Mutagenetix > Incidental Mutation

Incidental Mutation 'R8477:Bptf'

657323

Institutional Source

Beutler Lab

Gene Symbol

Bptf

Ensembl Gene

ENSMUSG00000040481

Gene Name

bromodomain PHD finger transcription factor

Synonyms

9430093H17Rik, Falz

MMRRC Submission

067921-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8477 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107033081-107132127 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107052853 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 2671 (Q2671L)

Ref Sequence

ENSEMBL: ENSMUSP00000102373 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000057892
AA Change: Q2619L

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000052303
Gene: ENSMUSG00000040481
AA Change: Q2619L

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 damaging
Transcript: ENSMUST00000106762
AA Change: Q2671L

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102373
Gene: ENSMUSG00000040481
AA Change: Q2671L

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: Q2734L

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102374
Gene: ENSMUSG00000040481
AA Change: Q2734L

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: Q13L

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

SMART Domains

Protein: ENSMUSP00000118875
Gene: ENSMUSG00000040481
AA Change: Q13L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (60/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 79,088,340 (GRCm38)	S94L	probably benign	Het
Ackr1	C	T	1: 173,332,188 (GRCm38)	G255R	probably damaging	Het
Aldh1l2	G	A	10: 83,501,921 (GRCm38)	T560I	probably damaging	Het
Arhgef25	A	T	10: 127,184,397 (GRCm38)	F384I	probably damaging	Het
Ccdc159	A	G	9: 21,932,927 (GRCm38)	E95G	probably damaging	Het
Cenpf	A	T	1: 189,653,188 (GRCm38)	H2298Q	probably benign	Het
Chn2	G	T	6: 54,269,482 (GRCm38)		probably null	Het
Csnk1g1	T	C	9: 66,002,273 (GRCm38)	L224P	probably damaging	Het
Cyp2c54	T	A	19: 40,070,264 (GRCm38)	K241N	probably benign	Het
Cyp2c55	G	T	19: 39,011,041 (GRCm38)	V64L	probably damaging	Het
Dlgap1	A	C	17: 70,516,972 (GRCm38)	Q317H	probably damaging	Het
Dnaja3	A	G	16: 4,687,348 (GRCm38)	D108G	probably null	Het
Dpagt1	G	T	9: 44,332,093 (GRCm38)		probably null	Het
Dzip1	T	C	14: 118,901,546 (GRCm38)	R424G	possibly damaging	Het
E330014E10Rik	A	C	5: 95,801,708 (GRCm38)	M105L	probably benign	Het
Ero1lb	A	G	13: 12,601,783 (GRCm38)	K367R	probably benign	Het
Evi2	T	C	11: 79,516,065 (GRCm38)	Y228C	probably benign	Het
Exosc10	A	T	4: 148,565,390 (GRCm38)	I426L	possibly damaging	Het
Fam208b	A	G	13: 3,575,079 (GRCm38)	F1624L	probably benign	Het
Gba2	C	T	4: 43,569,944 (GRCm38)	R423Q	probably damaging	Het
Gm19965	A	C	1: 116,803,124 (GRCm38)		probably benign	Het
Gm4070	T	C	7: 105,898,926 (GRCm38)	K1640E	possibly damaging	Het
Gpr165	C	A	X: 96,714,017 (GRCm38)	D7E	probably benign	Het
Hc	A	T	2: 34,989,170 (GRCm38)	C1557S	probably damaging	Het
Hfm1	C	T	5: 106,881,818 (GRCm38)	S799N	probably benign	Het
Hibadh	A	T	6: 52,640,200 (GRCm38)	W17R	probably benign	Het
Hivep1	A	T	13: 42,184,220 (GRCm38)	T2592S	probably benign	Het
Ighv8-5	G	A	12: 115,067,580 (GRCm38)	T113I	probably benign	Het
Il2rb	A	T	15: 78,485,806 (GRCm38)	V211D	probably damaging	Het
Itgal	A	G	7: 127,300,933 (GRCm38)	Y121C	probably damaging	Het
Kirrel	T	C	3: 87,084,831 (GRCm38)	T597A	possibly damaging	Het
Lats1	A	G	10: 7,705,515 (GRCm38)	E688G	probably damaging	Het
Lbr	C	T	1: 181,816,974 (GRCm38)	A589T	possibly damaging	Het
Limch1	G	A	5: 66,974,565 (GRCm38)	V133I	probably benign	Het
Mast2	C	T	4: 116,307,210 (GRCm38)	A1670T	probably benign	Het
Mtcl1	A	T	17: 66,377,947 (GRCm38)	L949Q	probably benign	Het
Nlrp4a	T	C	7: 26,459,794 (GRCm38)	V833A	probably benign	Het
Olfr358	T	C	2: 37,005,048 (GRCm38)	T189A	probably benign	Het
Olfr945	A	T	9: 39,257,803 (GRCm38)	Y290N	probably damaging	Het
Osgep	C	A	14: 50,917,877 (GRCm38)	A75S	probably damaging	Het
Pank1	C	A	19: 34,878,655 (GRCm38)	R141L	probably benign	Het
Pcdhb20	T	A	18: 37,505,254 (GRCm38)	S278T	probably benign	Het
Pcdhgb8	C	A	18: 37,763,312 (GRCm38)	F478L	probably benign	Het
Peg10	C	CTCT	6: 4,756,453 (GRCm38)		probably benign	Het
Polr2a	G	A	11: 69,735,486 (GRCm38)	P1613S	probably benign	Het
Prom2	A	C	2: 127,539,204 (GRCm38)	S251A	probably benign	Het
R3hdm2	A	G	10: 127,484,160 (GRCm38)	H546R	probably damaging	Het
Reck	G	T	4: 43,891,011 (GRCm38)	V50L	probably benign	Het
Rerg	T	C	6: 137,056,186 (GRCm38)	T164A	probably benign	Het
Rho	T	A	6: 115,935,385 (GRCm38)		probably null	Het
Ric1	A	G	19: 29,597,783 (GRCm38)	T959A	probably damaging	Het
Slc28a3	T	A	13: 58,576,795 (GRCm38)	N215I	possibly damaging	Het
Slc2a5	G	A	4: 150,125,662 (GRCm38)	V35I	probably benign	Het
Srpk2	A	T	5: 23,513,988 (GRCm38)	S610T	probably benign	Het
Tmem147	T	A	7: 30,728,231 (GRCm38)	M86L	probably benign	Het
Trhde	A	G	10: 114,800,717 (GRCm38)	V195A	probably benign	Het
Trio	T	C	15: 27,773,952 (GRCm38)	S112G	possibly damaging	Het
U2af2	T	C	7: 5,075,694 (GRCm38)	V424A	probably benign	Het
Vmn2r27	T	C	6: 124,224,241 (GRCm38)	I252M	probably benign	Het
Wasf2	A	G	4: 133,185,101 (GRCm38)	E88G	unknown	Het
Zfp37	A	G	4: 62,192,003 (GRCm38)	C275R	probably damaging	Het
Zfp532	A	T	18: 65,624,066 (GRCm38)	I357F	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
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
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
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'- AAAGACCTGCCATGCACGTC -3'
(R):5'- CAGATGGTGCCTTGCTTGTC -3'

Sequencing Primer
(F):5'- GCCATGCACGTCCTTCC -3'
(R):5'- ACGGCGTCACAGAGCTTG -3'

Posted On

2021-01-18