Mutagenetix > Incidental Mutation

Incidental Mutation 'R0601:Bptf'

55433

Institutional Source

Beutler Lab

Gene Symbol

Bptf

Ensembl Gene

ENSMUSG00000040481

Gene Name

bromodomain PHD finger transcription factor

Synonyms

9430093H17Rik, Falz

MMRRC Submission

038790-MU

Accession Numbers

Genbank: NM_176850; MGI: 2444008

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0601 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

107033081-107132127 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107061692 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 2112 (T2112S)

Ref Sequence

ENSEMBL: ENSMUSP00000102373 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057892] [ENSMUST00000106762] [ENSMUST00000106763] [ENSMUST00000149486]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000057892
AA Change: T2060S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000052303
Gene: ENSMUSG00000040481
AA Change: T2060S

Domain	Start	End	E-Value	Type
low complexity region	12	44	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC
low complexity region	77	119	N/A	INTRINSIC
low complexity region	137	197	N/A	INTRINSIC
low complexity region	202	215	N/A	INTRINSIC
DDT	252	312	2.02e-23	SMART
Pfam:WHIM1	351	400	4.7e-8	PFAM
PHD	404	447	2.23e-11	SMART
coiled coil region	864	894	N/A	INTRINSIC
low complexity region	961	973	N/A	INTRINSIC
low complexity region	987	998	N/A	INTRINSIC
low complexity region	1062	1072	N/A	INTRINSIC
low complexity region	1086	1098	N/A	INTRINSIC
low complexity region	1225	1238	N/A	INTRINSIC
low complexity region	1251	1265	N/A	INTRINSIC
low complexity region	1491	1503	N/A	INTRINSIC
low complexity region	1594	1613	N/A	INTRINSIC
low complexity region	1636	1645	N/A	INTRINSIC
low complexity region	1665	1683	N/A	INTRINSIC
low complexity region	1818	1834	N/A	INTRINSIC
coiled coil region	1908	1936	N/A	INTRINSIC
low complexity region	1941	1957	N/A	INTRINSIC
low complexity region	2051	2061	N/A	INTRINSIC
low complexity region	2092	2107	N/A	INTRINSIC
low complexity region	2115	2128	N/A	INTRINSIC
low complexity region	2175	2197	N/A	INTRINSIC
low complexity region	2227	2252	N/A	INTRINSIC
low complexity region	2275	2312	N/A	INTRINSIC
low complexity region	2336	2355	N/A	INTRINSIC
low complexity region	2361	2378	N/A	INTRINSIC
low complexity region	2390	2420	N/A	INTRINSIC
low complexity region	2430	2463	N/A	INTRINSIC
coiled coil region	2489	2527	N/A	INTRINSIC
coiled coil region	2576	2604	N/A	INTRINSIC
low complexity region	2663	2700	N/A	INTRINSIC
low complexity region	2713	2736	N/A	INTRINSIC
PHD	2744	2791	5.32e-9	SMART
BROMO	2800	2908	5.5e-37	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106762
AA Change: T2112S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000102373
Gene: ENSMUSG00000040481
AA Change: T2112S

Domain	Start	End	E-Value	Type
low complexity region	12	44	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC
low complexity region	77	119	N/A	INTRINSIC
low complexity region	137	197	N/A	INTRINSIC
low complexity region	202	215	N/A	INTRINSIC
DDT	252	312	2.02e-23	SMART
Pfam:WHIM1	351	400	4.7e-8	PFAM
PHD	404	447	2.23e-11	SMART
internal_repeat_1	589	642	6.48e-5	PROSPERO
low complexity region	644	654	N/A	INTRINSIC
low complexity region	662	679	N/A	INTRINSIC
coiled coil region	926	956	N/A	INTRINSIC
low complexity region	1013	1025	N/A	INTRINSIC
low complexity region	1039	1050	N/A	INTRINSIC
low complexity region	1114	1124	N/A	INTRINSIC
low complexity region	1138	1150	N/A	INTRINSIC
low complexity region	1277	1290	N/A	INTRINSIC
low complexity region	1303	1317	N/A	INTRINSIC
internal_repeat_1	1387	1440	6.48e-5	PROSPERO
low complexity region	1543	1555	N/A	INTRINSIC
low complexity region	1646	1665	N/A	INTRINSIC
low complexity region	1688	1697	N/A	INTRINSIC
low complexity region	1717	1735	N/A	INTRINSIC
low complexity region	1870	1886	N/A	INTRINSIC
coiled coil region	1960	1988	N/A	INTRINSIC
low complexity region	1993	2009	N/A	INTRINSIC
low complexity region	2103	2113	N/A	INTRINSIC
low complexity region	2144	2159	N/A	INTRINSIC
low complexity region	2167	2180	N/A	INTRINSIC
low complexity region	2227	2249	N/A	INTRINSIC
low complexity region	2279	2304	N/A	INTRINSIC
low complexity region	2327	2364	N/A	INTRINSIC
low complexity region	2388	2407	N/A	INTRINSIC
low complexity region	2413	2430	N/A	INTRINSIC
low complexity region	2442	2472	N/A	INTRINSIC
low complexity region	2482	2515	N/A	INTRINSIC
coiled coil region	2541	2579	N/A	INTRINSIC
coiled coil region	2628	2656	N/A	INTRINSIC
low complexity region	2715	2752	N/A	INTRINSIC
low complexity region	2765	2788	N/A	INTRINSIC
PHD	2796	2843	5.32e-9	SMART
BROMO	2852	2960	5.5e-37	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106763
AA Change: T2175S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000102374
Gene: ENSMUSG00000040481
AA Change: T2175S

Domain	Start	End	E-Value	Type
low complexity region	12	44	N/A	INTRINSIC
low complexity region	49	62	N/A	INTRINSIC
low complexity region	77	119	N/A	INTRINSIC
low complexity region	137	197	N/A	INTRINSIC
low complexity region	202	215	N/A	INTRINSIC
DDT	252	312	2.02e-23	SMART
Pfam:WHIM1	351	400	4.9e-8	PFAM
PHD	404	447	2.23e-11	SMART
low complexity region	624	639	N/A	INTRINSIC
low complexity region	707	717	N/A	INTRINSIC
low complexity region	725	742	N/A	INTRINSIC
coiled coil region	989	1019	N/A	INTRINSIC
low complexity region	1076	1088	N/A	INTRINSIC
low complexity region	1102	1113	N/A	INTRINSIC
low complexity region	1177	1187	N/A	INTRINSIC
low complexity region	1201	1213	N/A	INTRINSIC
low complexity region	1340	1353	N/A	INTRINSIC
low complexity region	1366	1380	N/A	INTRINSIC
low complexity region	1606	1618	N/A	INTRINSIC
low complexity region	1709	1728	N/A	INTRINSIC
low complexity region	1751	1760	N/A	INTRINSIC
low complexity region	1780	1798	N/A	INTRINSIC
low complexity region	1933	1949	N/A	INTRINSIC
coiled coil region	2023	2051	N/A	INTRINSIC
low complexity region	2056	2072	N/A	INTRINSIC
low complexity region	2166	2176	N/A	INTRINSIC
low complexity region	2207	2222	N/A	INTRINSIC
low complexity region	2230	2243	N/A	INTRINSIC
low complexity region	2290	2312	N/A	INTRINSIC
low complexity region	2342	2367	N/A	INTRINSIC
low complexity region	2390	2427	N/A	INTRINSIC
low complexity region	2451	2470	N/A	INTRINSIC
low complexity region	2476	2493	N/A	INTRINSIC
low complexity region	2505	2535	N/A	INTRINSIC
low complexity region	2545	2578	N/A	INTRINSIC
coiled coil region	2604	2642	N/A	INTRINSIC
coiled coil region	2691	2719	N/A	INTRINSIC
low complexity region	2778	2815	N/A	INTRINSIC
low complexity region	2828	2851	N/A	INTRINSIC
PHD	2859	2906	5.32e-9	SMART
BROMO	2915	3023	5.5e-37	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149486
AA Change: T276S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122575
Gene: ENSMUSG00000040481
AA Change: T276S

Domain	Start	End	E-Value	Type
coiled coil region	70	98	N/A	INTRINSIC
low complexity region	103	119	N/A	INTRINSIC
low complexity region	171	188	N/A	INTRINSIC
low complexity region	267	277	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.2%

Validation Efficiency

98% (119/122)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis with embryonic growth arrest around early gastrulation and a greatly reduced ectoplacental cone. [provided by MGI curators]

Allele List at MGI

All alleles(58) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(56)

Other mutations in this stock

Total: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	G	14: 35,810,189 (GRCm38)	D143A	probably damaging	Het
Abca9	C	T	11: 110,117,058 (GRCm38)		probably null	Het
Abcc5	A	G	16: 20,404,559 (GRCm38)		probably benign	Het
Ablim3	T	A	18: 61,849,370 (GRCm38)	D168V	probably benign	Het
Acsl3	C	T	1: 78,696,179 (GRCm38)	S352F	probably damaging	Het
Adgrl4	A	T	3: 151,498,429 (GRCm38)		probably benign	Het
Arhgap29	A	G	3: 121,991,110 (GRCm38)	K229E	probably damaging	Het
Atad3a	A	T	4: 155,747,407 (GRCm38)	V470D	probably damaging	Het
Atp8b1	A	G	18: 64,571,653 (GRCm38)		probably null	Het
Bcl2	G	A	1: 106,712,562 (GRCm38)	R107C	probably damaging	Het
Bpifa5	A	G	2: 154,164,255 (GRCm38)	N121S	possibly damaging	Het
Bpifb4	G	A	2: 153,947,283 (GRCm38)		probably benign	Het
Btnl4	T	C	17: 34,469,311 (GRCm38)	K498E	probably benign	Het
Calhm2	A	G	19: 47,141,030 (GRCm38)		probably null	Het
Capn3	A	T	2: 120,502,596 (GRCm38)		probably null	Het
Caps2	T	C	10: 112,195,790 (GRCm38)	F265L	possibly damaging	Het
Casp3	G	T	8: 46,636,227 (GRCm38)	C170F	probably benign	Het
Ccdc39	T	C	3: 33,819,839 (GRCm38)	R615G	probably damaging	Het
Cd177	A	G	7: 24,752,313 (GRCm38)	I426T	probably benign	Het
Cfap53	G	A	18: 74,300,150 (GRCm38)	R102H	possibly damaging	Het
Cfhr3	G	A	1: 139,593,885 (GRCm38)		noncoding transcript	Het
Col7a1	T	C	9: 108,980,584 (GRCm38)		probably benign	Het
Cplx3	T	C	9: 57,606,074 (GRCm38)	E24G	possibly damaging	Het
D11Wsu47e	T	A	11: 113,687,886 (GRCm38)	S36T	probably benign	Het
Dhx30	A	G	9: 110,086,714 (GRCm38)		probably null	Het
Dnah8	T	A	17: 30,708,358 (GRCm38)	N1329K	probably benign	Het
Dnajc11	C	G	4: 151,969,936 (GRCm38)	R200G	probably damaging	Het
Dok3	A	T	13: 55,524,263 (GRCm38)	F201I	probably benign	Het
Dpf2	A	T	19: 5,902,212 (GRCm38)	H303Q	probably damaging	Het
Dtnb	A	G	12: 3,735,039 (GRCm38)		probably benign	Het
Elk3	T	C	10: 93,265,481 (GRCm38)	E136G	probably damaging	Het
Ephb1	T	C	9: 102,195,130 (GRCm38)	D150G	probably damaging	Het
Erbb3	A	G	10: 128,577,012 (GRCm38)	S570P	probably benign	Het
F2	A	T	2: 91,633,311 (GRCm38)		probably null	Het
Fanca	A	T	8: 123,308,513 (GRCm38)	M231K	probably damaging	Het
Fbxo34	T	C	14: 47,530,257 (GRCm38)	V358A	probably benign	Het
Foxp1	C	T	6: 98,930,122 (GRCm38)	E666K	probably damaging	Het
Fto	A	G	8: 91,401,802 (GRCm38)		probably null	Het
Gbp2	C	T	3: 142,630,758 (GRCm38)	R290C	possibly damaging	Het
Grik2	T	G	10: 49,422,597 (GRCm38)	S343R	probably damaging	Het
Heatr5b	A	T	17: 78,768,545 (GRCm38)	M1448K	probably benign	Het
Hmgn3	A	T	9: 83,146,429 (GRCm38)		probably null	Het
Htt	T	C	5: 34,846,003 (GRCm38)	V1274A	probably benign	Het
Kcnh8	A	G	17: 52,894,005 (GRCm38)	D489G	probably damaging	Het
Kcnip3	A	T	2: 127,458,397 (GRCm38)		probably benign	Het
Kdm5a	A	G	6: 120,402,671 (GRCm38)	T647A	possibly damaging	Het
Krt72	T	C	15: 101,786,056 (GRCm38)	R135G	probably damaging	Het
Larp7	T	A	3: 127,544,209 (GRCm38)	K400N	probably damaging	Het
Lifr	T	C	15: 7,169,272 (GRCm38)		probably null	Het
Lima1	G	A	15: 99,780,472 (GRCm38)	P696L	probably damaging	Het
Lrrc8e	T	G	8: 4,235,239 (GRCm38)		probably null	Het
Map1a	A	G	2: 121,298,602 (GRCm38)	R116G	probably damaging	Het
Map3k13	A	G	16: 21,905,249 (GRCm38)	E327G	possibly damaging	Het
Med13	A	G	11: 86,345,962 (GRCm38)	V123A	possibly damaging	Het
Megf8	A	C	7: 25,328,540 (GRCm38)	H205P	probably benign	Het
Met	G	A	6: 17,555,632 (GRCm38)		probably null	Het
Mfsd14b	A	C	13: 65,087,150 (GRCm38)	V71G	possibly damaging	Het
Mpl	T	A	4: 118,443,536 (GRCm38)	T599S	probably benign	Het
Myh15	A	T	16: 49,061,581 (GRCm38)	D62V	probably damaging	Het
Myo5a	A	G	9: 75,174,015 (GRCm38)	T961A	probably benign	Het
Myrfl	A	G	10: 116,776,760 (GRCm38)	Y895H	probably damaging	Het
Nap1l1	T	C	10: 111,490,363 (GRCm38)		probably benign	Het
Ncapd3	T	A	9: 27,041,507 (GRCm38)	Y111N	probably benign	Het
Nlrc3	A	G	16: 3,948,249 (GRCm38)		probably benign	Het
Nsun2	G	T	13: 69,633,242 (GRCm38)	V657L	probably benign	Het
Olfr1026	A	T	2: 85,923,378 (GRCm38)	I37F	probably benign	Het
Olfr1247	T	A	2: 89,609,220 (GRCm38)	N294I	probably benign	Het
Olfr142	T	C	2: 90,252,934 (GRCm38)	D18G	probably benign	Het
Olfr1511	C	A	14: 52,389,826 (GRCm38)	G316*	probably null	Het
Olfr195	G	A	16: 59,149,754 (GRCm38)	M301I	probably benign	Het
Olfr596	T	C	7: 103,310,164 (GRCm38)	S148P	probably damaging	Het
Olfr646	A	T	7: 104,107,142 (GRCm38)	I288F	possibly damaging	Het
Olfr780	T	A	10: 129,322,016 (GRCm38)	M131K	possibly damaging	Het
Osbpl3	A	T	6: 50,299,403 (GRCm38)	V795D	probably benign	Het
Osbpl5	T	C	7: 143,709,549 (GRCm38)	D155G	probably damaging	Het
Parm1	G	A	5: 91,594,264 (GRCm38)	V164I	probably benign	Het
Pgd	A	T	4: 149,156,810 (GRCm38)		probably benign	Het
Pkp1	G	A	1: 135,878,182 (GRCm38)	R593W	probably damaging	Het
Polr2l	A	T	7: 141,473,342 (GRCm38)	V53E	probably damaging	Het
Ppp4c	G	T	7: 126,787,288 (GRCm38)	T29K	probably benign	Het
Ppp4r4	T	A	12: 103,600,520 (GRCm38)		probably benign	Het
Ptprd	A	G	4: 76,100,474 (GRCm38)	S688P	probably benign	Het
Rab3b	A	T	4: 108,890,389 (GRCm38)	I28F	probably damaging	Het
Rnase4	T	C	14: 51,105,095 (GRCm38)	L92P	probably benign	Het
Rnpc3	T	C	3: 113,620,106 (GRCm38)	E229G	probably benign	Het
Rtraf	A	T	14: 19,816,206 (GRCm38)	D147E	possibly damaging	Het
Rttn	G	A	18: 89,042,966 (GRCm38)	G1086D	probably benign	Het
Ryr2	A	G	13: 11,705,633 (GRCm38)		probably null	Het
Sft2d2	T	C	1: 165,183,861 (GRCm38)	I126V	probably benign	Het
Skap1	G	T	11: 96,723,410 (GRCm38)		probably benign	Het
Slc14a2	A	T	18: 78,157,179 (GRCm38)	L753*	probably null	Het
Slc25a5	G	A	X: 36,795,755 (GRCm38)	A9T	probably benign	Het
Slc30a5	T	C	13: 100,814,770 (GRCm38)		probably benign	Het
Slc5a4b	A	C	10: 76,064,036 (GRCm38)	I456S	possibly damaging	Het
Slc9a4	A	T	1: 40,603,070 (GRCm38)	S400C	probably damaging	Het
Slx1b	T	A	7: 126,692,640 (GRCm38)	H84L	probably damaging	Het
Sptbn1	T	C	11: 30,150,008 (GRCm38)	Y190C	probably damaging	Het
Stk32b	T	C	5: 37,531,566 (GRCm38)	Q138R	probably damaging	Het
Syt6	C	A	3: 103,620,890 (GRCm38)	D308E	probably damaging	Het
Sytl2	G	A	7: 90,395,166 (GRCm38)	D572N	probably damaging	Het
Taok2	A	T	7: 126,879,433 (GRCm38)	L109Q	probably damaging	Het
Tbl1xr1	T	C	3: 22,179,319 (GRCm38)		probably benign	Het
Tlk1	A	G	2: 70,714,158 (GRCm38)	I711T	probably benign	Het
Trf	A	G	9: 103,222,933 (GRCm38)		probably null	Het
Trpc2	A	G	7: 102,084,365 (GRCm38)	T548A	possibly damaging	Het
Ttbk2	A	T	2: 120,825,296 (GRCm38)	I29N	possibly damaging	Het
Tti1	A	T	2: 157,993,372 (GRCm38)	C989S	probably damaging	Het
Txndc8	A	G	4: 58,000,256 (GRCm38)	Y108H	probably benign	Het
Ugt2b1	A	T	5: 86,917,680 (GRCm38)	V500D	possibly damaging	Het
Vmn1r34	A	G	6: 66,637,664 (GRCm38)	I30T	possibly damaging	Het
Vmn2r115	A	G	17: 23,360,100 (GRCm38)	K849R	probably null	Het
Vmn2r76	T	A	7: 86,226,115 (GRCm38)		probably null	Het
Vps13c	T	A	9: 67,927,472 (GRCm38)	S1694R	probably benign	Het
Wdfy3	G	T	5: 101,836,172 (GRCm38)	P3509T	probably benign	Het
Wdr59	GGGTGGTG	GGGTG	8: 111,480,540 (GRCm38)		probably benign	Het
Wdr60	T	C	12: 116,255,935 (GRCm38)	D129G	possibly damaging	Het
Wnt8b	T	A	19: 44,493,667 (GRCm38)	W40R	probably benign	Het
Xrra1	A	G	7: 99,910,968 (GRCm38)	I384V	possibly damaging	Het
Zfp11	A	T	5: 129,657,907 (GRCm38)	H163Q	probably damaging	Het

Other mutations in Bptf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00553:Bptf	APN	11	107,055,279 (GRCm38)	missense	possibly damaging	0.88
IGL00664:Bptf	APN	11	107,077,665 (GRCm38)	missense	possibly damaging	0.78
IGL00705:Bptf	APN	11	107,095,708 (GRCm38)	splice site	probably benign
IGL00796:Bptf	APN	11	107,054,550 (GRCm38)	missense	probably damaging	1.00
IGL00834:Bptf	APN	11	107,073,928 (GRCm38)	missense	possibly damaging	0.59
IGL01155:Bptf	APN	11	107,080,727 (GRCm38)	missense	probably damaging	1.00
IGL01314:Bptf	APN	11	107,054,853 (GRCm38)	missense	probably damaging	1.00
IGL01371:Bptf	APN	11	107,055,907 (GRCm38)	missense	probably benign	0.00
IGL01567:Bptf	APN	11	107,058,774 (GRCm38)	missense	probably damaging	1.00
IGL01794:Bptf	APN	11	107,053,221 (GRCm38)	critical splice donor site	probably null
IGL02108:Bptf	APN	11	107,074,988 (GRCm38)	missense	probably benign	0.45
IGL02367:Bptf	APN	11	107,073,352 (GRCm38)	missense	probably benign
IGL02437:Bptf	APN	11	107,074,695 (GRCm38)	missense	probably benign	0.00
IGL02589:Bptf	APN	11	107,111,531 (GRCm38)	missense	possibly damaging	0.92
IGL02897:Bptf	APN	11	107,047,121 (GRCm38)	missense	probably damaging	1.00
IGL02935:Bptf	APN	11	107,080,799 (GRCm38)	missense	probably damaging	1.00
IGL02954:Bptf	APN	11	107,054,749 (GRCm38)	missense	possibly damaging	0.89
IGL02982:Bptf	APN	11	107,076,674 (GRCm38)	missense	probably damaging	1.00
IGL03109:Bptf	APN	11	107,061,701 (GRCm38)	missense	possibly damaging	0.53
IGL03265:Bptf	APN	11	107,054,628 (GRCm38)	missense	probably benign	0.00
IGL03403:Bptf	APN	11	107,099,733 (GRCm38)	missense	possibly damaging	0.51
Anodyne	UTSW	11	107,043,631 (GRCm38)	critical splice donor site	probably null
Arroyo	UTSW	11	107,042,690 (GRCm38)	missense	probably benign	0.32
mojado	UTSW	11	107,044,640 (GRCm38)	missense	probably benign	0.03
IGL03097:Bptf	UTSW	11	107,077,680 (GRCm38)	missense	probably damaging	1.00
PIT4486001:Bptf	UTSW	11	107,054,788 (GRCm38)	missense	probably damaging	0.98
R0066:Bptf	UTSW	11	107,062,136 (GRCm38)	missense	possibly damaging	0.90
R0157:Bptf	UTSW	11	107,074,658 (GRCm38)	missense	possibly damaging	0.89
R0320:Bptf	UTSW	11	107,072,819 (GRCm38)	missense	probably damaging	1.00
R0328:Bptf	UTSW	11	107,047,127 (GRCm38)	missense	probably damaging	1.00
R0402:Bptf	UTSW	11	107,074,114 (GRCm38)	missense	probably damaging	1.00
R0482:Bptf	UTSW	11	107,081,262 (GRCm38)	missense	probably benign	0.13
R0574:Bptf	UTSW	11	107,076,527 (GRCm38)	missense	probably damaging	1.00
R0598:Bptf	UTSW	11	107,072,965 (GRCm38)	missense	probably damaging	0.99
R0599:Bptf	UTSW	11	107,068,382 (GRCm38)	missense	probably damaging	1.00
R0744:Bptf	UTSW	11	107,110,812 (GRCm38)	critical splice donor site	probably null
R0836:Bptf	UTSW	11	107,110,812 (GRCm38)	critical splice donor site	probably null
R0885:Bptf	UTSW	11	107,043,791 (GRCm38)	missense	probably damaging	1.00
R1070:Bptf	UTSW	11	107,055,055 (GRCm38)	missense	possibly damaging	0.92
R1252:Bptf	UTSW	11	107,073,251 (GRCm38)	missense	probably benign	0.00
R1370:Bptf	UTSW	11	107,047,094 (GRCm38)	missense	probably damaging	0.99
R1428:Bptf	UTSW	11	107,073,047 (GRCm38)	missense	probably damaging	0.99
R1467:Bptf	UTSW	11	107,055,055 (GRCm38)	missense	possibly damaging	0.92
R1467:Bptf	UTSW	11	107,055,055 (GRCm38)	missense	possibly damaging	0.92
R1742:Bptf	UTSW	11	107,110,951 (GRCm38)	missense	probably damaging	1.00
R1816:Bptf	UTSW	11	107,060,579 (GRCm38)	missense	probably damaging	1.00
R1858:Bptf	UTSW	11	107,073,301 (GRCm38)	missense	probably benign	0.00
R1989:Bptf	UTSW	11	107,074,826 (GRCm38)	missense	probably damaging	1.00
R2253:Bptf	UTSW	11	107,111,322 (GRCm38)	missense	probably damaging	1.00
R2392:Bptf	UTSW	11	107,072,747 (GRCm38)	missense	probably damaging	1.00
R2431:Bptf	UTSW	11	107,047,240 (GRCm38)	missense	possibly damaging	0.48
R3022:Bptf	UTSW	11	107,111,637 (GRCm38)	critical splice acceptor site	probably null
R3161:Bptf	UTSW	11	107,074,476 (GRCm38)	missense	probably damaging	1.00
R3686:Bptf	UTSW	11	107,074,198 (GRCm38)	missense	probably benign	0.25
R3687:Bptf	UTSW	11	107,074,198 (GRCm38)	missense	probably benign	0.25
R3688:Bptf	UTSW	11	107,074,198 (GRCm38)	missense	probably benign	0.25
R3787:Bptf	UTSW	11	107,073,827 (GRCm38)	missense	probably damaging	1.00
R3834:Bptf	UTSW	11	107,073,857 (GRCm38)	missense	probably benign	0.05
R3885:Bptf	UTSW	11	107,074,513 (GRCm38)	missense	probably damaging	0.97
R4090:Bptf	UTSW	11	107,081,523 (GRCm38)	missense	probably damaging	0.99
R4398:Bptf	UTSW	11	107,110,844 (GRCm38)	missense	probably damaging	1.00
R4437:Bptf	UTSW	11	107,074,474 (GRCm38)	missense	possibly damaging	0.59
R4514:Bptf	UTSW	11	107,077,692 (GRCm38)	missense	probably damaging	1.00
R4565:Bptf	UTSW	11	107,073,010 (GRCm38)	missense	probably damaging	1.00
R4715:Bptf	UTSW	11	107,047,181 (GRCm38)	missense	probably damaging	1.00
R4748:Bptf	UTSW	11	107,095,880 (GRCm38)	missense	probably damaging	0.96
R4764:Bptf	UTSW	11	107,043,694 (GRCm38)	missense	probably damaging	1.00
R4885:Bptf	UTSW	11	107,074,648 (GRCm38)	missense	probably benign	0.39
R4901:Bptf	UTSW	11	107,110,860 (GRCm38)	nonsense	probably null
R4995:Bptf	UTSW	11	107,054,565 (GRCm38)	missense	probably damaging	0.98
R5057:Bptf	UTSW	11	107,082,528 (GRCm38)	missense	probably damaging	0.98
R5120:Bptf	UTSW	11	107,073,385 (GRCm38)	missense	probably damaging	0.99
R5320:Bptf	UTSW	11	107,081,367 (GRCm38)	nonsense	probably null
R5329:Bptf	UTSW	11	107,073,295 (GRCm38)	missense	probably benign	0.06
R5418:Bptf	UTSW	11	107,111,294 (GRCm38)	missense	probably damaging	1.00
R5461:Bptf	UTSW	11	107,061,764 (GRCm38)	missense	probably damaging	1.00
R5664:Bptf	UTSW	11	107,073,699 (GRCm38)	missense	probably benign	0.01
R5718:Bptf	UTSW	11	107,111,434 (GRCm38)	missense	probably damaging	1.00
R5774:Bptf	UTSW	11	107,111,137 (GRCm38)	missense	probably damaging	1.00
R5851:Bptf	UTSW	11	107,110,862 (GRCm38)	missense	probably damaging	1.00
R5930:Bptf	UTSW	11	107,073,196 (GRCm38)	missense	probably damaging	1.00
R5949:Bptf	UTSW	11	107,111,089 (GRCm38)	missense	probably damaging	0.99
R5975:Bptf	UTSW	11	107,035,864 (GRCm38)	utr 3 prime	probably benign
R6027:Bptf	UTSW	11	107,074,945 (GRCm38)	missense	probably damaging	1.00
R6128:Bptf	UTSW	11	107,074,690 (GRCm38)	missense	possibly damaging	0.87
R6337:Bptf	UTSW	11	107,058,779 (GRCm38)	missense	possibly damaging	0.89
R6407:Bptf	UTSW	11	107,111,126 (GRCm38)	missense	probably damaging	1.00
R6470:Bptf	UTSW	11	107,072,767 (GRCm38)	missense	probably damaging	1.00
R6487:Bptf	UTSW	11	107,077,726 (GRCm38)	missense	probably damaging	0.99
R6501:Bptf	UTSW	11	107,077,683 (GRCm38)	missense	probably null	1.00
R6755:Bptf	UTSW	11	107,047,256 (GRCm38)	missense	probably benign	0.27
R6861:Bptf	UTSW	11	107,062,565 (GRCm38)	missense	probably damaging	1.00
R6866:Bptf	UTSW	11	107,073,580 (GRCm38)	missense	probably damaging	1.00
R6879:Bptf	UTSW	11	107,042,690 (GRCm38)	missense	probably benign	0.32
R6927:Bptf	UTSW	11	107,054,595 (GRCm38)	missense	probably damaging	1.00
R6944:Bptf	UTSW	11	107,080,823 (GRCm38)	missense	probably damaging	1.00
R7082:Bptf	UTSW	11	107,086,747 (GRCm38)	missense	probably benign	0.00
R7136:Bptf	UTSW	11	107,099,715 (GRCm38)	missense	probably damaging	1.00
R7162:Bptf	UTSW	11	107,043,631 (GRCm38)	critical splice donor site	probably null
R7171:Bptf	UTSW	11	107,131,407 (GRCm38)	missense	unknown
R7193:Bptf	UTSW	11	107,054,809 (GRCm38)	nonsense	probably null
R7210:Bptf	UTSW	11	107,054,464 (GRCm38)	nonsense	probably null
R7221:Bptf	UTSW	11	107,054,832 (GRCm38)	missense	probably damaging	1.00
R7316:Bptf	UTSW	11	107,110,914 (GRCm38)	nonsense	probably null
R7316:Bptf	UTSW	11	107,073,109 (GRCm38)	missense	probably damaging	1.00
R7422:Bptf	UTSW	11	107,060,558 (GRCm38)	missense	probably damaging	1.00
R7454:Bptf	UTSW	11	107,044,640 (GRCm38)	missense	probably benign	0.03
R7657:Bptf	UTSW	11	107,074,729 (GRCm38)	missense	probably damaging	1.00
R7718:Bptf	UTSW	11	107,081,456 (GRCm38)	missense	possibly damaging	0.65
R7827:Bptf	UTSW	11	107,047,187 (GRCm38)	missense	probably benign	0.01
R7844:Bptf	UTSW	11	107,074,061 (GRCm38)	missense	probably damaging	0.97
R7992:Bptf	UTSW	11	107,110,883 (GRCm38)	missense	probably benign	0.00
R8001:Bptf	UTSW	11	107,047,340 (GRCm38)	nonsense	probably null
R8037:Bptf	UTSW	11	107,055,950 (GRCm38)	missense	probably damaging	1.00
R8122:Bptf	UTSW	11	107,036,591 (GRCm38)	critical splice acceptor site	probably null
R8235:Bptf	UTSW	11	107,076,632 (GRCm38)	missense	probably benign	0.04
R8308:Bptf	UTSW	11	107,052,989 (GRCm38)	missense	probably damaging	0.99
R8409:Bptf	UTSW	11	107,062,669 (GRCm38)	missense	probably damaging	1.00
R8464:Bptf	UTSW	11	107,131,342 (GRCm38)	missense	probably benign	0.01
R8477:Bptf	UTSW	11	107,052,853 (GRCm38)	missense	probably damaging	0.98
R8482:Bptf	UTSW	11	107,043,698 (GRCm38)	missense	probably benign	0.19
R8515:Bptf	UTSW	11	107,055,238 (GRCm38)	missense	possibly damaging	0.85
R8519:Bptf	UTSW	11	107,061,764 (GRCm38)	missense	probably damaging	1.00
R8708:Bptf	UTSW	11	107,073,314 (GRCm38)	missense	probably damaging	1.00
R8708:Bptf	UTSW	11	107,073,313 (GRCm38)	missense	probably damaging	0.99
R8722:Bptf	UTSW	11	107,131,469 (GRCm38)	missense	unknown
R8732:Bptf	UTSW	11	107,040,380 (GRCm38)	missense	probably damaging	1.00
R8783:Bptf	UTSW	11	107,131,531 (GRCm38)	missense	unknown
R8828:Bptf	UTSW	11	107,055,010 (GRCm38)	missense	probably damaging	0.98
R9004:Bptf	UTSW	11	107,054,887 (GRCm38)	missense	probably damaging	1.00
R9010:Bptf	UTSW	11	107,073,750 (GRCm38)	missense	probably damaging	1.00
R9035:Bptf	UTSW	11	107,073,016 (GRCm38)	missense	probably damaging	1.00
R9083:Bptf	UTSW	11	107,068,350 (GRCm38)	missense	probably damaging	1.00
R9211:Bptf	UTSW	11	107,055,298 (GRCm38)	missense	probably damaging	1.00
R9345:Bptf	UTSW	11	107,080,762 (GRCm38)	missense	possibly damaging	0.77
R9393:Bptf	UTSW	11	107,074,308 (GRCm38)	missense	probably benign	0.00
R9451:Bptf	UTSW	11	107,044,585 (GRCm38)	missense	probably damaging	1.00
R9561:Bptf	UTSW	11	107,074,128 (GRCm38)	nonsense	probably null
R9632:Bptf	UTSW	11	107,061,719 (GRCm38)	missense	probably damaging	1.00
R9648:Bptf	UTSW	11	107,052,894 (GRCm38)	missense	probably damaging	0.99
R9650:Bptf	UTSW	11	107,044,586 (GRCm38)	missense	probably benign	0.15
R9658:Bptf	UTSW	11	107,111,344 (GRCm38)	missense	probably damaging	1.00
R9775:Bptf	UTSW	11	107,043,676 (GRCm38)	missense	probably benign	0.04
R9776:Bptf	UTSW	11	107,078,570 (GRCm38)	missense	probably damaging	1.00
Z1088:Bptf	UTSW	11	107,074,582 (GRCm38)	missense	probably benign	0.00
Z1176:Bptf	UTSW	11	107,058,684 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGTTACCAAGTGCAGCACATTCC -3'
(R):5'- TAAGGCATGGTCCAGGTACAGCAG -3'

Sequencing Primer
(F):5'- acccctttaatcccagcac -3'
(R):5'- CCAGGTACAGCAGAAGGTCC -3'

Posted On

2013-07-11