Mutagenetix > Incidental Mutation

Incidental Mutation 'R4715:Bptf'

353971

Institutional Source

Beutler Lab

Gene Symbol

Bptf

Ensembl Gene

ENSMUSG00000040481

Gene Name

bromodomain PHD finger transcription factor

Synonyms

9430093H17Rik, Falz

MMRRC Submission

041982-MU

Accession Numbers

Genbank: NM_176850; MGI: 2444008

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4715 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107033081-107132127 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 107047181 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 2695 (H2695N)

Ref Sequence

ENSEMBL: ENSMUSP00000052303 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057892] [ENSMUST00000106762] [ENSMUST00000106763] [ENSMUST00000133317] [ENSMUST00000208369]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000057892
AA Change: H2695N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000052303
Gene: ENSMUSG00000040481
AA Change: H2695N

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: H2747N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000102373
Gene: ENSMUSG00000040481
AA Change: H2747N

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

possibly damaging
Transcript: ENSMUST00000106763
AA Change: H2810N

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102374
Gene: ENSMUSG00000040481
AA Change: H2810N

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

possibly damaging
Transcript: ENSMUST00000133317
AA Change: H89N

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118875
Gene: ENSMUSG00000040481
AA Change: H89N

Domain	Start	End	E-Value	Type
low complexity region	57	94	N/A	INTRINSIC
low complexity region	107	130	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138443

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147816

Predicted Effect

probably benign
Transcript: ENSMUST00000208369
AA Change: H55N

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

92% (86/93)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	C	19: 43,816,882 (GRCm38)	E725A	possibly damaging	Het
Abcc5	G	T	16: 20,398,876 (GRCm38)	L362I	probably damaging	Het
Ammecr1l	C	T	18: 31,774,653 (GRCm38)	R179*	probably null	Het
Arap2	G	T	5: 62,749,094 (GRCm38)	T194K	probably benign	Het
Atf2	C	A	2: 73,823,300 (GRCm38)	V282F	probably damaging	Het
Atp1a1	T	C	3: 101,591,806 (GRCm38)	E159G	possibly damaging	Het
B4galt2	T	C	4: 117,877,179 (GRCm38)	S258G	possibly damaging	Het
Casq2	T	C	3: 102,110,244 (GRCm38)	V80A	probably benign	Het
Ccdc130	A	G	8: 84,263,874 (GRCm38)	I43T	probably damaging	Het
Cdc42ep3	G	A	17: 79,335,458 (GRCm38)	A11V	probably benign	Het
Cdh4	A	T	2: 179,780,467 (GRCm38)	H128L	probably benign	Het
Cdk5rap1	C	A	2: 154,361,835 (GRCm38)	*191L	probably null	Het
Cfdp1	G	A	8: 111,830,891 (GRCm38)	T206I	probably benign	Het
Cgn	C	A	3: 94,779,438 (GRCm38)	G185W	probably damaging	Het
Clpx	A	C	9: 65,312,114 (GRCm38)	R231S	possibly damaging	Het
Copg1	T	A	6: 87,912,286 (GRCm38)	L870*	probably null	Het
Cyp4a10	A	T	4: 115,525,338 (GRCm38)	D275V	probably benign	Het
Dip2a	T	C	10: 76,296,406 (GRCm38)	T504A	probably benign	Het
Dmxl2	A	C	9: 54,446,405 (GRCm38)		probably null	Het
Dnaaf5	A	T	5: 139,178,000 (GRCm38)	I671F	probably damaging	Het
Dnah14	A	G	1: 181,757,223 (GRCm38)	D3173G	probably damaging	Het
Dock2	T	C	11: 34,294,118 (GRCm38)	Y1074C	probably damaging	Het
Dthd1	A	C	5: 62,888,187 (GRCm38)	M765L	probably benign	Het
E2f3	A	C	13: 29,911,275 (GRCm38)	C220W	probably damaging	Het
Elf3	C	T	1: 135,257,752 (GRCm38)	S8N	probably damaging	Het
F2rl1	A	T	13: 95,513,267 (GRCm38)	V369E	probably damaging	Het
Fam214a	T	A	9: 75,012,968 (GRCm38)	W799R	probably damaging	Het
Fpr-rs7	C	T	17: 20,113,428 (GRCm38)	G267R	probably benign	Het
Ggact	A	T	14: 122,891,635 (GRCm38)	L56Q	possibly damaging	Het
Gm10698	A	T	9: 33,728,488 (GRCm38)		noncoding transcript	Het
Gm5546	T	C	3: 104,366,508 (GRCm38)		noncoding transcript	Het
Gm8267	A	G	14: 44,717,835 (GRCm38)	V243A	probably benign	Het
Gtf2h1	A	G	7: 46,815,412 (GRCm38)	T424A	possibly damaging	Het
Gucy1b2	A	G	14: 62,423,017 (GRCm38)	V140A	possibly damaging	Het
Htatip2	T	C	7: 49,770,844 (GRCm38)	L146P	probably damaging	Het
Htr1b	T	C	9: 81,631,510 (GRCm38)	D348G	possibly damaging	Het
Ifi205	T	C	1: 174,028,321 (GRCm38)	I48V	possibly damaging	Het
Igkv18-36	C	T	6: 69,992,591 (GRCm38)	R72K	probably damaging	Het
Kcnk7	T	C	19: 5,706,253 (GRCm38)	L169P	probably damaging	Het
Klf17	T	C	4: 117,760,536 (GRCm38)	D208G	probably benign	Het
Ltn1	A	G	16: 87,418,494 (GRCm38)	F418L	probably damaging	Het
Map4k4	G	A	1: 40,019,564 (GRCm38)	V1040I	probably damaging	Het
Mark1	A	G	1: 184,912,132 (GRCm38)	V445A	probably benign	Het
Med11	T	C	11: 70,453,196 (GRCm38)	I114T	probably benign	Het
Moxd2	A	G	6: 40,887,247 (GRCm38)	V83A	probably damaging	Het
Mrpl33	A	G	5: 31,616,358 (GRCm38)		probably benign	Het
Mrps27	A	G	13: 99,414,815 (GRCm38)		probably null	Het
Nop58	T	C	1: 59,696,026 (GRCm38)	V75A	probably benign	Het
Olfr1290	A	C	2: 111,489,744 (GRCm38)	M138R	probably benign	Het
Olfr1339	T	C	4: 118,734,655 (GRCm38)	L42P	probably damaging	Het
Olfr136	A	C	17: 38,335,840 (GRCm38)	I228L	possibly damaging	Het
Olfr325	A	G	11: 58,581,429 (GRCm38)	D195G	probably damaging	Het
Olfr832	A	G	9: 18,945,446 (GRCm38)	H266R	probably benign	Het
Olfr844	C	A	9: 19,319,147 (GRCm38)	F210L	probably benign	Het
Pdzd2	G	T	15: 12,419,516 (GRCm38)	N263K	possibly damaging	Het
Podnl1	C	A	8: 84,126,061 (GRCm38)		probably benign	Het
Prkd3	G	T	17: 78,951,937 (GRCm38)	H864N	possibly damaging	Het
Ptprd	T	C	4: 76,107,333 (GRCm38)	T543A	probably benign	Het
Pum2	T	A	12: 8,747,272 (GRCm38)	I788N	probably damaging	Het
Ralgapa1	T	A	12: 55,693,458 (GRCm38)	N1328I	probably damaging	Het
Rhoc	T	C	3: 104,794,039 (GRCm38)	L193P	probably damaging	Het
Rif1	T	C	2: 52,073,139 (GRCm38)		probably benign	Het
Rspo2	A	T	15: 43,075,904 (GRCm38)	C163*	probably null	Het
Sco1	A	G	11: 67,056,599 (GRCm38)	Y204C	probably damaging	Het
Shc2	T	C	10: 79,622,379 (GRCm38)	K490R	probably benign	Het
Siglec1	T	C	2: 131,074,436 (GRCm38)	D1198G	probably damaging	Het
Slc25a18	T	C	6: 120,786,090 (GRCm38)	V31A	probably damaging	Het
Smpd5	A	T	15: 76,295,693 (GRCm38)	I112L	probably benign	Het
Synpr	CT	C	14: 13,285,198 (GRCm38)		probably null	Het
Tdrd9	T	G	12: 112,041,689 (GRCm38)	S988A	probably benign	Het
Tiam2	T	A	17: 3,454,168 (GRCm38)	F982I	probably damaging	Het
Tmc3	G	A	7: 83,622,396 (GRCm38)	V919I	probably benign	Het
Tmem200c	A	T	17: 68,840,470 (GRCm38)	D16V	probably damaging	Het
Tmem37	A	T	1: 120,068,205 (GRCm38)	D47E	probably damaging	Het
Top3a	T	A	11: 60,742,997 (GRCm38)	R733*	probably null	Het
Treh	T	C	9: 44,683,318 (GRCm38)	V8A	probably benign	Het
Trim17	A	C	11: 58,968,450 (GRCm38)		probably benign	Het
Ubash3b	T	C	9: 41,016,600 (GRCm38)	K471E	probably damaging	Het
Usp8	T	A	2: 126,729,222 (GRCm38)	L144Q	possibly damaging	Het
Wnk2	T	A	13: 49,147,232 (GRCm38)	M1L	unknown	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
R0601:Bptf	UTSW	11	107,061,692 (GRCm38)	missense	probably benign	0.04
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
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'- CTTGGACTCATCGTACGGTGTC -3'
(R):5'- AAGTTGCCCCATCCTGTAAC -3'

Sequencing Primer
(F):5'- ACTCATCGTACGGTGTCTTGCAG -3'
(R):5'- TGTCTTCAATTGACCACAGGAAGAG -3'

Posted On

2015-10-21