Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02589:Bptf'

299659

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bptf

Ensembl Gene

ENSMUSG00000040481

Gene Name

bromodomain PHD finger transcription factor

Synonyms

9430093H17Rik, Falz

Accession Numbers

Genbank: NM_176850; MGI: 2444008

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02589

Quality Score

Status

Chromosome

Chromosomal Location

107033081-107132127 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107111531 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 252 (N252D)

Ref Sequence

ENSEMBL: ENSMUSP00000102374 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057892
AA Change: N252D

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000052303
Gene: ENSMUSG00000040481
AA Change: N252D

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

possibly damaging
Transcript: ENSMUST00000106762
AA Change: N252D

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102373
Gene: ENSMUSG00000040481
AA Change: N252D

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: N252D

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102374
Gene: ENSMUSG00000040481
AA Change: N252D

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

Coding Region Coverage

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410015M20Rik	T	C	17: 56,608,856 (GRCm38)	E66G	probably benign	Het
5430403G16Rik	T	A	5: 109,678,520 (GRCm38)	H62L	possibly damaging	Het
A2ml1	T	G	6: 128,581,500 (GRCm38)	I5L	probably benign	Het
Ang6	A	G	14: 44,001,962 (GRCm38)	I103T	possibly damaging	Het
Arhgdib	A	G	6: 136,933,578 (GRCm38)		probably benign	Het
Atp13a2	C	T	4: 141,006,411 (GRCm38)	T1037M	probably damaging	Het
Capn2	T	C	1: 182,484,348 (GRCm38)	Y387C	probably damaging	Het
Cdc27	T	G	11: 104,505,644 (GRCm38)	D817A	probably benign	Het
Cdc45	C	T	16: 18,798,729 (GRCm38)	M200I	probably benign	Het
Cntnap3	T	G	13: 64,792,430 (GRCm38)	I318L	probably benign	Het
Cog6	A	T	3: 53,007,270 (GRCm38)	L255Q	probably damaging	Het
Ect2l	T	A	10: 18,140,594 (GRCm38)		probably benign	Het
Ercc5	T	C	1: 44,164,049 (GRCm38)	V282A	probably damaging	Het
Fras1	A	G	5: 96,769,513 (GRCm38)	D3464G	probably damaging	Het
Gabrg1	A	T	5: 70,842,152 (GRCm38)	L18*	probably null	Het
Ggcx	T	C	6: 72,429,148 (GRCm38)	Y586H	probably damaging	Het
Gm5796	A	T	14: 4,033,828 (GRCm38)	K24*	probably null	Het
Gnb4	C	T	3: 32,589,849 (GRCm38)	V187M	probably damaging	Het
Gpt2	C	T	8: 85,516,166 (GRCm38)	Q276*	probably null	Het
Idnk	G	T	13: 58,163,425 (GRCm38)		probably benign	Het
Igkv3-9	A	G	6: 70,588,699 (GRCm38)	D94G	possibly damaging	Het
Ipo8	C	A	6: 148,809,907 (GRCm38)	L294F	probably damaging	Het
Itgad	A	T	7: 128,181,711 (GRCm38)	D157V	probably damaging	Het
Kcnab3	A	T	11: 69,332,102 (GRCm38)	I392L	probably benign	Het
Kdm3b	A	G	18: 34,812,418 (GRCm38)	S761G	possibly damaging	Het
Kif21a	G	A	15: 90,985,286 (GRCm38)	T454M	probably damaging	Het
Lta4h	A	G	10: 93,474,931 (GRCm38)	N441S	probably benign	Het
Man2a1	A	G	17: 64,679,778 (GRCm38)	E595G	probably benign	Het
Mvd	T	C	8: 122,438,034 (GRCm38)		probably benign	Het
Notch2	A	G	3: 98,104,347 (GRCm38)		probably null	Het
Phf20l1	G	T	15: 66,615,632 (GRCm38)		probably benign	Het
Rdm1	A	G	11: 101,628,005 (GRCm38)	S13G	possibly damaging	Het
Rnf123	G	A	9: 108,068,302 (GRCm38)	R390*	probably null	Het
Scn4a	G	T	11: 106,328,132 (GRCm38)	D953E	probably benign	Het
Sh2b1	A	G	7: 126,469,268 (GRCm38)	I457T	probably benign	Het
Srrm1	G	A	4: 135,325,104 (GRCm38)	P658L	unknown	Het
Tagap	C	A	17: 7,933,672 (GRCm38)	T563K	possibly damaging	Het
Ugt1a7c	T	C	1: 88,095,638 (GRCm38)	I173T	probably benign	Het
Unc79	C	T	12: 103,173,496 (GRCm38)	A2370V	probably damaging	Het
Vmn2r102	T	A	17: 19,681,218 (GRCm38)	C536S	probably damaging	Het
Vmn2r53	G	A	7: 12,581,945 (GRCm38)	T649I	possibly damaging	Het
Whrn	G	A	4: 63,418,097 (GRCm38)	Q301*	probably null	Het
Zfp518a	G	A	19: 40,914,617 (GRCm38)	G997R	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
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
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

Posted On

2015-04-16