Mutagenetix > Incidental Mutation

Incidental Mutation 'R9393:Bptf'

710693

Institutional Source

Beutler Lab

Gene Symbol

Bptf

Ensembl Gene

ENSMUSG00000040481

Gene Name

bromodomain PHD finger transcription factor

Synonyms

Falz, 9430093H17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9393 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106923907-107022953 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 106965134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1353 (D1353E)

Ref Sequence

ENSEMBL: ENSMUSP00000102374 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000057892
AA Change: D1238E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000052303
Gene: ENSMUSG00000040481
AA Change: D1238E

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: D1290E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000102373
Gene: ENSMUSG00000040481
AA Change: D1290E

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: D1353E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102374
Gene: ENSMUSG00000040481
AA Change: D1353E

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,616,270 (GRCm39)	S133G	possibly damaging	Het
Agps	A	G	2: 75,735,256 (GRCm39)	E567G	possibly damaging	Het
Ak9	T	C	10: 41,285,068 (GRCm39)	I1381T	unknown	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Arrb1	T	A	7: 99,238,891 (GRCm39)	C150S	probably damaging	Het
Asz1	T	C	6: 18,051,330 (GRCm39)	I450V	probably benign	Het
Atp10b	A	G	11: 43,063,608 (GRCm39)	N181S	probably damaging	Het
Cacna2d1	T	C	5: 16,140,013 (GRCm39)	M1T	probably null	Het
Ccdc106	T	A	7: 5,059,200 (GRCm39)	I6N	possibly damaging	Het
Celf6	A	T	9: 59,510,525 (GRCm39)	Q252L	probably benign	Het
Colgalt2	A	T	1: 152,360,598 (GRCm39)	K212*	probably null	Het
Cryba4	T	C	5: 112,394,632 (GRCm39)	S166G	probably benign	Het
Cyp2w1	A	G	5: 139,342,035 (GRCm39)	E123G	probably benign	Het
Cyp4a10	G	C	4: 115,382,566 (GRCm39)	K285N	probably damaging	Het
Cyth1	G	T	11: 118,074,710 (GRCm39)	T197K	probably benign	Het
Ddhd1	A	G	14: 45,894,685 (GRCm39)	W262R	probably damaging	Het
Dnah8	T	A	17: 30,872,361 (GRCm39)	V450D	possibly damaging	Het
Eml5	C	T	12: 98,842,433 (GRCm39)	V222I	probably benign	Het
Fbxw19	A	G	9: 109,324,873 (GRCm39)	S15P	probably damaging	Het
Fhip2b	G	A	14: 70,831,463 (GRCm39)	Q24*	probably null	Het
Fignl2	C	A	15: 100,951,466 (GRCm39)	R272L	unknown	Het
Gm10842	A	T	11: 105,037,885 (GRCm39)	D56V	unknown	Het
Gmps	T	A	3: 63,900,640 (GRCm39)	N305K	probably benign	Het
Gnai1	A	T	5: 18,565,055 (GRCm39)	L38Q		Het
Golim4	A	T	3: 75,785,464 (GRCm39)	D642E	probably benign	Het
Gp1ba	A	T	11: 70,531,293 (GRCm39)	Q353L	unknown	Het
Gpnmb	T	C	6: 49,024,996 (GRCm39)	S343P	possibly damaging	Het
Hexb	G	A	13: 97,313,336 (GRCm39)	R507*	probably null	Het
Ifitm10	A	T	7: 141,924,704 (GRCm39)	V45D	probably damaging	Het
Khsrp	T	C	17: 57,330,350 (GRCm39)	Y585C	probably damaging	Het
Kif21a	A	T	15: 90,853,981 (GRCm39)	D795E	probably benign	Het
Klkb1	A	T	8: 45,729,392 (GRCm39)	V309E	probably benign	Het
Krtap9-1	C	A	11: 99,764,664 (GRCm39)	C133*	probably null	Het
Krtcap2	T	C	3: 89,153,578 (GRCm39)		probably benign	Het
Lilra5	T	C	7: 4,240,758 (GRCm39)	M1T	probably null	Het
Magi1	G	A	6: 93,659,890 (GRCm39)	T1019I	probably benign	Het
Mdn1	T	A	4: 32,713,825 (GRCm39)	H1967Q		Het
Mgat4f	A	G	1: 134,318,596 (GRCm39)	D456G	probably benign	Het
Mroh2b	A	T	15: 4,980,666 (GRCm39)	T1412S	probably benign	Het
Myh13	A	T	11: 67,242,894 (GRCm39)	M936L	probably benign	Het
Nalf2	C	T	X: 98,889,097 (GRCm39)	R321W	probably damaging	Het
Ncapd3	A	G	9: 26,962,682 (GRCm39)	T373A	possibly damaging	Het
Noc2l	T	C	4: 156,320,784 (GRCm39)		probably null	Het
Nrg4	C	T	9: 55,149,420 (GRCm39)	S59N	probably benign	Het
Nrip1	A	G	16: 76,091,353 (GRCm39)	V68A	probably benign	Het
Or11g24	T	C	14: 50,662,255 (GRCm39)	V93A	probably benign	Het
Or9k2	T	C	10: 129,999,016 (GRCm39)	T60A	probably benign	Het
Pcdhga6	G	T	18: 37,840,212 (GRCm39)		probably benign	Het
Phf20l1	A	G	15: 66,475,955 (GRCm39)	N196S	probably damaging	Het
Ppp4r4	T	A	12: 103,571,296 (GRCm39)	Y787*	probably null	Het
Psma8	G	A	18: 14,839,298 (GRCm39)	R4Q	probably null	Het
Reg4	A	G	3: 98,137,168 (GRCm39)	K46E	probably benign	Het
Rnf14	T	A	18: 38,442,680 (GRCm39)	M327K	possibly damaging	Het
Rtn1	A	T	12: 72,263,586 (GRCm39)	Y753*	probably null	Het
Slc26a11	A	G	11: 119,259,627 (GRCm39)	R275G	probably benign	Het
Stard9	A	G	2: 120,518,656 (GRCm39)	T527A	possibly damaging	Het
Stk26	C	T	X: 49,930,618 (GRCm39)		probably benign	Het
Tas1r1	C	T	4: 152,116,413 (GRCm39)	C407Y	probably damaging	Het
Tcstv1b	A	T	13: 120,634,958 (GRCm39)	Y80F	probably benign	Het
Tenm3	A	G	8: 49,127,559 (GRCm39)	S40P	probably damaging	Het
Tespa1	T	A	10: 130,183,066 (GRCm39)	S4T	probably damaging	Het
Tlr11	A	G	14: 50,599,547 (GRCm39)	N511S	probably benign	Het
Tmprss15	A	G	16: 78,754,211 (GRCm39)	I1014T	probably benign	Het
Tpte	T	A	8: 22,774,990 (GRCm39)	M20K	probably benign	Het
Ttn	A	G	2: 76,612,390 (GRCm39)	V17199A	possibly damaging	Het
Tubgcp3	A	G	8: 12,703,411 (GRCm39)	Y305H	probably damaging	Het
Ubr4	T	A	4: 139,212,613 (GRCm39)	V5081E	unknown	Het
Unkl	T	C	17: 25,448,392 (GRCm39)	S322P	probably damaging	Het
Uqcc6	A	G	10: 82,458,475 (GRCm39)	S59P	unknown	Het
Vav3	T	A	3: 109,485,682 (GRCm39)		probably null	Het
Vmn1r76	A	G	7: 11,664,765 (GRCm39)	S150P	probably benign	Het
Xpot	A	G	10: 121,445,600 (GRCm39)		probably null	Het
Xylt1	A	G	7: 117,242,906 (GRCm39)	I650V	probably benign	Het
Zan	C	A	5: 137,403,682 (GRCm39)	A3955S	unknown	Het

Other mutations in Bptf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00553:Bptf	APN	11	106,946,105 (GRCm39)	missense	possibly damaging	0.88
IGL00664:Bptf	APN	11	106,968,491 (GRCm39)	missense	possibly damaging	0.78
IGL00705:Bptf	APN	11	106,986,534 (GRCm39)	splice site	probably benign
IGL00796:Bptf	APN	11	106,945,376 (GRCm39)	missense	probably damaging	1.00
IGL00834:Bptf	APN	11	106,964,754 (GRCm39)	missense	possibly damaging	0.59
IGL01155:Bptf	APN	11	106,971,553 (GRCm39)	missense	probably damaging	1.00
IGL01314:Bptf	APN	11	106,945,679 (GRCm39)	missense	probably damaging	1.00
IGL01371:Bptf	APN	11	106,946,733 (GRCm39)	missense	probably benign	0.00
IGL01567:Bptf	APN	11	106,949,600 (GRCm39)	missense	probably damaging	1.00
IGL01794:Bptf	APN	11	106,944,047 (GRCm39)	critical splice donor site	probably null
IGL02108:Bptf	APN	11	106,965,814 (GRCm39)	missense	probably benign	0.45
IGL02367:Bptf	APN	11	106,964,178 (GRCm39)	missense	probably benign
IGL02437:Bptf	APN	11	106,965,521 (GRCm39)	missense	probably benign	0.00
IGL02589:Bptf	APN	11	107,002,357 (GRCm39)	missense	possibly damaging	0.92
IGL02897:Bptf	APN	11	106,937,947 (GRCm39)	missense	probably damaging	1.00
IGL02935:Bptf	APN	11	106,971,625 (GRCm39)	missense	probably damaging	1.00
IGL02954:Bptf	APN	11	106,945,575 (GRCm39)	missense	possibly damaging	0.89
IGL02982:Bptf	APN	11	106,967,500 (GRCm39)	missense	probably damaging	1.00
IGL03109:Bptf	APN	11	106,952,527 (GRCm39)	missense	possibly damaging	0.53
IGL03265:Bptf	APN	11	106,945,454 (GRCm39)	missense	probably benign	0.00
IGL03403:Bptf	APN	11	106,990,559 (GRCm39)	missense	possibly damaging	0.51
Anodyne	UTSW	11	106,934,457 (GRCm39)	critical splice donor site	probably null
Arroyo	UTSW	11	106,933,516 (GRCm39)	missense	probably benign	0.32
mojado	UTSW	11	106,935,466 (GRCm39)	missense	probably benign	0.03
IGL03097:Bptf	UTSW	11	106,968,506 (GRCm39)	missense	probably damaging	1.00
PIT4486001:Bptf	UTSW	11	106,945,614 (GRCm39)	missense	probably damaging	0.98
R0066:Bptf	UTSW	11	106,952,962 (GRCm39)	missense	possibly damaging	0.90
R0157:Bptf	UTSW	11	106,965,484 (GRCm39)	missense	possibly damaging	0.89
R0320:Bptf	UTSW	11	106,963,645 (GRCm39)	missense	probably damaging	1.00
R0328:Bptf	UTSW	11	106,937,953 (GRCm39)	missense	probably damaging	1.00
R0402:Bptf	UTSW	11	106,964,940 (GRCm39)	missense	probably damaging	1.00
R0482:Bptf	UTSW	11	106,972,088 (GRCm39)	missense	probably benign	0.13
R0574:Bptf	UTSW	11	106,967,353 (GRCm39)	missense	probably damaging	1.00
R0598:Bptf	UTSW	11	106,963,791 (GRCm39)	missense	probably damaging	0.99
R0599:Bptf	UTSW	11	106,959,208 (GRCm39)	missense	probably damaging	1.00
R0601:Bptf	UTSW	11	106,952,518 (GRCm39)	missense	probably benign	0.04
R0744:Bptf	UTSW	11	107,001,638 (GRCm39)	critical splice donor site	probably null
R0836:Bptf	UTSW	11	107,001,638 (GRCm39)	critical splice donor site	probably null
R0885:Bptf	UTSW	11	106,934,617 (GRCm39)	missense	probably damaging	1.00
R1070:Bptf	UTSW	11	106,945,881 (GRCm39)	missense	possibly damaging	0.92
R1252:Bptf	UTSW	11	106,964,077 (GRCm39)	missense	probably benign	0.00
R1370:Bptf	UTSW	11	106,937,920 (GRCm39)	missense	probably damaging	0.99
R1428:Bptf	UTSW	11	106,963,873 (GRCm39)	missense	probably damaging	0.99
R1467:Bptf	UTSW	11	106,945,881 (GRCm39)	missense	possibly damaging	0.92
R1467:Bptf	UTSW	11	106,945,881 (GRCm39)	missense	possibly damaging	0.92
R1742:Bptf	UTSW	11	107,001,777 (GRCm39)	missense	probably damaging	1.00
R1816:Bptf	UTSW	11	106,951,405 (GRCm39)	missense	probably damaging	1.00
R1858:Bptf	UTSW	11	106,964,127 (GRCm39)	missense	probably benign	0.00
R1989:Bptf	UTSW	11	106,965,652 (GRCm39)	missense	probably damaging	1.00
R2253:Bptf	UTSW	11	107,002,148 (GRCm39)	missense	probably damaging	1.00
R2392:Bptf	UTSW	11	106,963,573 (GRCm39)	missense	probably damaging	1.00
R2431:Bptf	UTSW	11	106,938,066 (GRCm39)	missense	possibly damaging	0.48
R3022:Bptf	UTSW	11	107,002,463 (GRCm39)	critical splice acceptor site	probably null
R3161:Bptf	UTSW	11	106,965,302 (GRCm39)	missense	probably damaging	1.00
R3686:Bptf	UTSW	11	106,965,024 (GRCm39)	missense	probably benign	0.25
R3687:Bptf	UTSW	11	106,965,024 (GRCm39)	missense	probably benign	0.25
R3688:Bptf	UTSW	11	106,965,024 (GRCm39)	missense	probably benign	0.25
R3787:Bptf	UTSW	11	106,964,653 (GRCm39)	missense	probably damaging	1.00
R3834:Bptf	UTSW	11	106,964,683 (GRCm39)	missense	probably benign	0.05
R3885:Bptf	UTSW	11	106,965,339 (GRCm39)	missense	probably damaging	0.97
R4090:Bptf	UTSW	11	106,972,349 (GRCm39)	missense	probably damaging	0.99
R4398:Bptf	UTSW	11	107,001,670 (GRCm39)	missense	probably damaging	1.00
R4437:Bptf	UTSW	11	106,965,300 (GRCm39)	missense	possibly damaging	0.59
R4514:Bptf	UTSW	11	106,968,518 (GRCm39)	missense	probably damaging	1.00
R4565:Bptf	UTSW	11	106,963,836 (GRCm39)	missense	probably damaging	1.00
R4715:Bptf	UTSW	11	106,938,007 (GRCm39)	missense	probably damaging	1.00
R4748:Bptf	UTSW	11	106,986,706 (GRCm39)	missense	probably damaging	0.96
R4764:Bptf	UTSW	11	106,934,520 (GRCm39)	missense	probably damaging	1.00
R4885:Bptf	UTSW	11	106,965,474 (GRCm39)	missense	probably benign	0.39
R4901:Bptf	UTSW	11	107,001,686 (GRCm39)	nonsense	probably null
R4995:Bptf	UTSW	11	106,945,391 (GRCm39)	missense	probably damaging	0.98
R5057:Bptf	UTSW	11	106,973,354 (GRCm39)	missense	probably damaging	0.98
R5120:Bptf	UTSW	11	106,964,211 (GRCm39)	missense	probably damaging	0.99
R5320:Bptf	UTSW	11	106,972,193 (GRCm39)	nonsense	probably null
R5329:Bptf	UTSW	11	106,964,121 (GRCm39)	missense	probably benign	0.06
R5418:Bptf	UTSW	11	107,002,120 (GRCm39)	missense	probably damaging	1.00
R5461:Bptf	UTSW	11	106,952,590 (GRCm39)	missense	probably damaging	1.00
R5664:Bptf	UTSW	11	106,964,525 (GRCm39)	missense	probably benign	0.01
R5718:Bptf	UTSW	11	107,002,260 (GRCm39)	missense	probably damaging	1.00
R5774:Bptf	UTSW	11	107,001,963 (GRCm39)	missense	probably damaging	1.00
R5851:Bptf	UTSW	11	107,001,688 (GRCm39)	missense	probably damaging	1.00
R5930:Bptf	UTSW	11	106,964,022 (GRCm39)	missense	probably damaging	1.00
R5949:Bptf	UTSW	11	107,001,915 (GRCm39)	missense	probably damaging	0.99
R5975:Bptf	UTSW	11	106,926,690 (GRCm39)	utr 3 prime	probably benign
R6027:Bptf	UTSW	11	106,965,771 (GRCm39)	missense	probably damaging	1.00
R6128:Bptf	UTSW	11	106,965,516 (GRCm39)	missense	possibly damaging	0.87
R6337:Bptf	UTSW	11	106,949,605 (GRCm39)	missense	possibly damaging	0.89
R6407:Bptf	UTSW	11	107,001,952 (GRCm39)	missense	probably damaging	1.00
R6470:Bptf	UTSW	11	106,963,593 (GRCm39)	missense	probably damaging	1.00
R6487:Bptf	UTSW	11	106,968,552 (GRCm39)	missense	probably damaging	0.99
R6501:Bptf	UTSW	11	106,968,509 (GRCm39)	missense	probably null	1.00
R6755:Bptf	UTSW	11	106,938,082 (GRCm39)	missense	probably benign	0.27
R6861:Bptf	UTSW	11	106,953,391 (GRCm39)	missense	probably damaging	1.00
R6866:Bptf	UTSW	11	106,964,406 (GRCm39)	missense	probably damaging	1.00
R6879:Bptf	UTSW	11	106,933,516 (GRCm39)	missense	probably benign	0.32
R6927:Bptf	UTSW	11	106,945,421 (GRCm39)	missense	probably damaging	1.00
R6944:Bptf	UTSW	11	106,971,649 (GRCm39)	missense	probably damaging	1.00
R7082:Bptf	UTSW	11	106,977,573 (GRCm39)	missense	probably benign	0.00
R7136:Bptf	UTSW	11	106,990,541 (GRCm39)	missense	probably damaging	1.00
R7162:Bptf	UTSW	11	106,934,457 (GRCm39)	critical splice donor site	probably null
R7171:Bptf	UTSW	11	107,022,233 (GRCm39)	missense	unknown
R7193:Bptf	UTSW	11	106,945,635 (GRCm39)	nonsense	probably null
R7210:Bptf	UTSW	11	106,945,290 (GRCm39)	nonsense	probably null
R7221:Bptf	UTSW	11	106,945,658 (GRCm39)	missense	probably damaging	1.00
R7316:Bptf	UTSW	11	107,001,740 (GRCm39)	nonsense	probably null
R7316:Bptf	UTSW	11	106,963,935 (GRCm39)	missense	probably damaging	1.00
R7422:Bptf	UTSW	11	106,951,384 (GRCm39)	missense	probably damaging	1.00
R7454:Bptf	UTSW	11	106,935,466 (GRCm39)	missense	probably benign	0.03
R7657:Bptf	UTSW	11	106,965,555 (GRCm39)	missense	probably damaging	1.00
R7718:Bptf	UTSW	11	106,972,282 (GRCm39)	missense	possibly damaging	0.65
R7827:Bptf	UTSW	11	106,938,013 (GRCm39)	missense	probably benign	0.01
R7844:Bptf	UTSW	11	106,964,887 (GRCm39)	missense	probably damaging	0.97
R7992:Bptf	UTSW	11	107,001,709 (GRCm39)	missense	probably benign	0.00
R8001:Bptf	UTSW	11	106,938,166 (GRCm39)	nonsense	probably null
R8037:Bptf	UTSW	11	106,946,776 (GRCm39)	missense	probably damaging	1.00
R8122:Bptf	UTSW	11	106,927,417 (GRCm39)	critical splice acceptor site	probably null
R8235:Bptf	UTSW	11	106,967,458 (GRCm39)	missense	probably benign	0.04
R8308:Bptf	UTSW	11	106,943,815 (GRCm39)	missense	probably damaging	0.99
R8409:Bptf	UTSW	11	106,953,495 (GRCm39)	missense	probably damaging	1.00
R8464:Bptf	UTSW	11	107,022,168 (GRCm39)	missense	probably benign	0.01
R8477:Bptf	UTSW	11	106,943,679 (GRCm39)	missense	probably damaging	0.98
R8482:Bptf	UTSW	11	106,934,524 (GRCm39)	missense	probably benign	0.19
R8515:Bptf	UTSW	11	106,946,064 (GRCm39)	missense	possibly damaging	0.85
R8519:Bptf	UTSW	11	106,952,590 (GRCm39)	missense	probably damaging	1.00
R8708:Bptf	UTSW	11	106,964,140 (GRCm39)	missense	probably damaging	1.00
R8708:Bptf	UTSW	11	106,964,139 (GRCm39)	missense	probably damaging	0.99
R8722:Bptf	UTSW	11	107,022,295 (GRCm39)	missense	unknown
R8732:Bptf	UTSW	11	106,931,206 (GRCm39)	missense	probably damaging	1.00
R8783:Bptf	UTSW	11	107,022,357 (GRCm39)	missense	unknown
R8828:Bptf	UTSW	11	106,945,836 (GRCm39)	missense	probably damaging	0.98
R9004:Bptf	UTSW	11	106,945,713 (GRCm39)	missense	probably damaging	1.00
R9010:Bptf	UTSW	11	106,964,576 (GRCm39)	missense	probably damaging	1.00
R9035:Bptf	UTSW	11	106,963,842 (GRCm39)	missense	probably damaging	1.00
R9083:Bptf	UTSW	11	106,959,176 (GRCm39)	missense	probably damaging	1.00
R9211:Bptf	UTSW	11	106,946,124 (GRCm39)	missense	probably damaging	1.00
R9345:Bptf	UTSW	11	106,971,588 (GRCm39)	missense	possibly damaging	0.77
R9451:Bptf	UTSW	11	106,935,411 (GRCm39)	missense	probably damaging	1.00
R9561:Bptf	UTSW	11	106,964,954 (GRCm39)	nonsense	probably null
R9632:Bptf	UTSW	11	106,952,545 (GRCm39)	missense	probably damaging	1.00
R9648:Bptf	UTSW	11	106,943,720 (GRCm39)	missense	probably damaging	0.99
R9650:Bptf	UTSW	11	106,935,412 (GRCm39)	missense	probably benign	0.15
R9658:Bptf	UTSW	11	107,002,170 (GRCm39)	missense	probably damaging	1.00
R9775:Bptf	UTSW	11	106,934,502 (GRCm39)	missense	probably benign	0.04
R9776:Bptf	UTSW	11	106,969,396 (GRCm39)	missense	probably damaging	1.00
Z1088:Bptf	UTSW	11	106,965,408 (GRCm39)	missense	probably benign	0.00
Z1176:Bptf	UTSW	11	106,949,510 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCAGCACTGTCCCGAATAC -3'
(R):5'- TCTCCATTCAGAGTCCAGGG -3'

Sequencing Primer
(F):5'- GTGCTACTATATTCAGAGTCACCAC -3'
(R):5'- TTCAGAGTCCAGGGCCAAACTG -3'

Posted On

2022-04-18