Mutagenetix > Incidental Mutation

Incidental Mutation 'R4995:Bptf'

385200

Institutional Source

Beutler Lab

Gene Symbol

Bptf

Ensembl Gene

ENSMUSG00000040481

Gene Name

bromodomain PHD finger transcription factor

Synonyms

Falz, 9430093H17Rik

MMRRC Submission

042589-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4995 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106923907-107022953 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106945391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 2501 (Q2501R)

Ref Sequence

ENSEMBL: ENSMUSP00000052303 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000057892
AA Change: Q2501R

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

SMART Domains

Protein: ENSMUSP00000052303
Gene: ENSMUSG00000040481
AA Change: Q2501R

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: Q2553R

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

SMART Domains

Protein: ENSMUSP00000102373
Gene: ENSMUSG00000040481
AA Change: Q2553R

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: Q2616R

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

SMART Domains

Protein: ENSMUSP00000102374
Gene: ENSMUSG00000040481
AA Change: Q2616R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000133317

SMART Domains

Protein: ENSMUSP00000118875
Gene: ENSMUSG00000040481

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

Meta Mutation Damage Score

0.1623

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

99% (86/87)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	G	A	2: 19,498,995 (GRCm39)	Q333*	probably null	Het
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Acvrl1	G	A	15: 101,033,741 (GRCm39)	R141H	probably benign	Het
Adprm	A	G	11: 66,932,436 (GRCm39)	F158L	possibly damaging	Het
Aldoart2	C	T	12: 55,613,038 (GRCm39)	T321M	probably benign	Het
Ap3m2	A	G	8: 23,293,792 (GRCm39)	V86A	probably benign	Het
Arhgef19	T	A	4: 140,974,826 (GRCm39)		probably null	Het
Bcl2l12	T	G	7: 44,643,615 (GRCm39)		probably null	Het
C230029F24Rik	A	T	1: 49,377,295 (GRCm39)		noncoding transcript	Het
C7	C	T	15: 5,079,074 (GRCm39)	G78D	probably damaging	Het
Caly	T	C	7: 139,650,538 (GRCm39)	T135A	probably benign	Het
Cbl	A	G	9: 44,065,108 (GRCm39)	M740T	possibly damaging	Het
Cbx4	A	G	11: 118,972,037 (GRCm39)	V446A	probably benign	Het
Celsr1	C	A	15: 85,822,112 (GRCm39)	R1735L	probably damaging	Het
Cep250	A	G	2: 155,830,236 (GRCm39)	D135G	probably damaging	Het
Cgn	T	C	3: 94,687,246 (GRCm39)	T19A	probably damaging	Het
Chic2	A	T	5: 75,204,865 (GRCm39)	V32D	probably damaging	Het
Cntln	A	G	4: 84,968,120 (GRCm39)	K780E	probably benign	Het
Col8a2	A	T	4: 126,204,581 (GRCm39)	D197V	probably damaging	Het
Crot	A	T	5: 9,024,000 (GRCm39)	V372E	probably damaging	Het
Cyb561d2	C	T	9: 107,418,747 (GRCm39)	V26M	probably damaging	Het
Ddx5	G	A	11: 106,676,062 (GRCm39)	T237I	probably damaging	Het
Dmxl2	G	T	9: 54,408,725 (GRCm39)		probably benign	Het
Dock8	T	A	19: 25,135,747 (GRCm39)	S1188R	probably benign	Het
Ehbp1	T	A	11: 22,051,073 (GRCm39)	H493L	probably damaging	Het
Eif5b	T	A	1: 38,090,792 (GRCm39)	*1217K	probably null	Het
Eprs1	A	G	1: 185,142,336 (GRCm39)		probably benign	Het
Etfdh	T	C	3: 79,513,095 (GRCm39)	D376G	probably benign	Het
Fam186a	T	C	15: 99,842,980 (GRCm39)	Q1088R	probably benign	Het
Fbxw16	G	T	9: 109,270,318 (GRCm39)	T141N	probably damaging	Het
Fgf11	G	A	11: 69,689,585 (GRCm39)	H138Y	probably damaging	Het
Htra3	T	C	5: 35,828,418 (GRCm39)	E154G	probably damaging	Het
Hydin	T	A	8: 111,296,274 (GRCm39)	V3601D	probably damaging	Het
Jup	G	T	11: 100,270,367 (GRCm39)	S380*	probably null	Het
Klrg1	T	A	6: 122,255,234 (GRCm39)	D66V	probably benign	Het
Llgl1	C	T	11: 60,600,550 (GRCm39)	A633V	probably benign	Het
Lmln	T	A	16: 32,894,467 (GRCm39)	Y203*	probably null	Het
Lrrc58	T	G	16: 37,697,418 (GRCm39)	C165G	probably benign	Het
Lss	T	C	10: 76,383,371 (GRCm39)	V557A	probably benign	Het
Mast4	T	C	13: 103,042,262 (GRCm39)		probably benign	Het
Med13l	C	A	5: 118,869,014 (GRCm39)	P754Q	possibly damaging	Het
Mga	C	T	2: 119,763,063 (GRCm39)	R1240*	probably null	Het
Mgat5b	T	A	11: 116,865,025 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,610,209 (GRCm39)	D1572G	probably damaging	Het
Muc4	T	A	16: 32,754,214 (GRCm38)	S1363T	probably benign	Het
Muc4	T	A	16: 32,575,332 (GRCm39)	S1306T	probably benign	Het
Myo18b	A	G	5: 112,908,258 (GRCm39)	V2005A	probably damaging	Het
Myo1e	G	A	9: 70,260,554 (GRCm39)	D571N	probably benign	Het
Mypn	T	C	10: 62,955,747 (GRCm39)		probably null	Het
Ndufb10	T	C	17: 24,941,731 (GRCm39)		probably null	Het
Nelfb	G	T	2: 25,096,208 (GRCm39)	D300E	probably benign	Het
Nicol1	G	A	5: 34,142,270 (GRCm39)	R79H	probably damaging	Het
Odad2	G	A	18: 7,223,663 (GRCm39)	T460M	probably damaging	Het
Or2y1d	T	A	11: 49,321,482 (GRCm39)	Y60N	probably damaging	Het
Or4e5	A	T	14: 52,727,988 (GRCm39)	C61*	probably null	Het
Or52n2c	T	A	7: 104,574,942 (GRCm39)	T10S	probably benign	Het
Or52z15	T	A	7: 103,332,574 (GRCm39)	D206E	probably damaging	Het
Pcdha11	C	T	18: 37,144,080 (GRCm39)	T57M	probably benign	Het
Pkp1	A	T	1: 135,808,593 (GRCm39)	I458N	possibly damaging	Het
Prr12	T	A	7: 44,700,653 (GRCm39)		probably benign	Het
Prrc2c	A	T	1: 162,532,879 (GRCm39)		probably benign	Het
Psd4	T	C	2: 24,287,259 (GRCm39)	F397S	probably benign	Het
Pygm	T	C	19: 6,448,169 (GRCm39)	I737T	probably damaging	Het
Rfx1	T	A	8: 84,806,743 (GRCm39)		probably null	Het
Rsl1	A	G	13: 67,330,313 (GRCm39)	T254A	possibly damaging	Het
Sh3rf3	A	G	10: 58,922,646 (GRCm39)	Q574R	probably benign	Het
Spire1	T	C	18: 67,685,849 (GRCm39)		probably null	Het
St6galnac4	G	A	2: 32,484,075 (GRCm39)	G91D	probably damaging	Het
Sytl2	T	C	7: 90,031,465 (GRCm39)		probably benign	Het
Tbpl2	T	A	2: 23,983,872 (GRCm39)	K188N	possibly damaging	Het
Tenm3	A	T	8: 48,682,172 (GRCm39)	M2486K	possibly damaging	Het
Tgoln1	A	C	6: 72,593,123 (GRCm39)	V119G	possibly damaging	Het
Tpgs1	A	T	10: 79,505,325 (GRCm39)	N28Y	probably benign	Het
U2surp	A	C	9: 95,344,847 (GRCm39)		probably benign	Het
Vmn2r103	A	G	17: 19,993,773 (GRCm39)	H50R	probably benign	Het
Vmn2r19	A	G	6: 123,306,869 (GRCm39)	N459S	probably benign	Het
Vmn2r72	T	C	7: 85,387,693 (GRCm39)	S624G	probably damaging	Het
Vps13c	A	G	9: 67,826,603 (GRCm39)	T1415A	probably benign	Het
Vwa5b1	G	A	4: 138,336,154 (GRCm39)	P147S	probably damaging	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
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
R9393:Bptf	UTSW	11	106,965,134 (GRCm39)	missense	probably benign	0.00
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'- AAGCAGTGTTTCCGCTCTTC -3'
(R):5'- CAGCAAGTCCAGGTTCTCTC -3'

Sequencing Primer
(F):5'- AGTGACTCTCTCTCATTCAGGAAAC -3'
(R):5'- TCTCAGATCCAGTCGCAGGTTG -3'

Posted On

2016-05-10