Mutagenetix > Incidental Mutation

Incidental Mutation 'R4816:Bicra'

369795

Institutional Source

Beutler Lab

Gene Symbol

Bicra

Ensembl Gene

ENSMUSG00000070808

Gene Name

BRD4 interacting chromatin remodeling complex associated protein

Synonyms

Gltscr1

MMRRC Submission

042434-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R4816 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

15704597-15781846 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15722831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 229 (T229A)

Ref Sequence

ENSEMBL: ENSMUSP00000148012 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094821] [ENSMUST00000210781]

AlphaFold

F8VPZ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094821
AA Change: T229A

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

SMART Domains

Protein: ENSMUSP00000092416
Gene: ENSMUSG00000070808
AA Change: T229A

Domain	Start	End	E-Value	Type
low complexity region	86	96	N/A	INTRINSIC
low complexity region	140	155	N/A	INTRINSIC
internal_repeat_1	156	298	1.03e-6	PROSPERO
low complexity region	308	323	N/A	INTRINSIC
low complexity region	427	443	N/A	INTRINSIC
internal_repeat_1	479	614	1.03e-6	PROSPERO
low complexity region	619	638	N/A	INTRINSIC
low complexity region	642	676	N/A	INTRINSIC
low complexity region	719	732	N/A	INTRINSIC
low complexity region	756	782	N/A	INTRINSIC
low complexity region	790	819	N/A	INTRINSIC
low complexity region	827	843	N/A	INTRINSIC
low complexity region	852	906	N/A	INTRINSIC
low complexity region	940	950	N/A	INTRINSIC
low complexity region	987	1006	N/A	INTRINSIC
Pfam:GLTSCR1	1094	1202	4.6e-43	PFAM
low complexity region	1232	1251	N/A	INTRINSIC
low complexity region	1275	1294	N/A	INTRINSIC
low complexity region	1349	1371	N/A	INTRINSIC
low complexity region	1460	1473	N/A	INTRINSIC
low complexity region	1535	1555	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210035

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210713

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210781
AA Change: T229A

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

Meta Mutation Damage Score

0.1035

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (113/116)

Allele List at MGI

Other mutations in this stock

Total: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	A	7: 45,754,131 (GRCm39)	A1562S	probably benign	Het
Adam30	C	A	3: 98,070,061 (GRCm39)	D631E	possibly damaging	Het
Adgrv1	T	C	13: 81,676,793 (GRCm39)	T2013A	probably damaging	Het
Ark2n	A	T	18: 77,740,995 (GRCm39)		probably null	Het
Baiap3	T	A	17: 25,466,269 (GRCm39)		probably benign	Het
C1qbp	A	G	11: 70,873,190 (GRCm39)		probably benign	Het
C2cd3	C	A	7: 100,040,226 (GRCm39)	T265K	probably benign	Het
Cacna1s	T	A	1: 136,043,007 (GRCm39)	I1331K	possibly damaging	Het
Cdadc1	AGACGGA	AGA	14: 59,806,440 (GRCm39)		probably null	Het
Cdcp2	A	G	4: 106,963,969 (GRCm39)	Y273C	probably damaging	Het
Cdh23	A	C	10: 60,244,856 (GRCm39)	V1013G	possibly damaging	Het
Celf3	T	A	3: 94,386,529 (GRCm39)	I39N	probably damaging	Het
Cep152	A	C	2: 125,405,674 (GRCm39)	S1619R	probably damaging	Het
Cfap36	A	G	11: 29,195,108 (GRCm39)	I42T	probably damaging	Het
Cfap61	G	T	2: 145,985,020 (GRCm39)	V955L	probably damaging	Het
Cit	G	A	5: 116,046,750 (GRCm39)	D388N	probably damaging	Het
Clca3a2	T	C	3: 144,516,613 (GRCm39)	M328V	probably benign	Het
Cntn4	A	T	6: 106,527,458 (GRCm39)	I447L	probably benign	Het
Csmd3	T	C	15: 47,721,330 (GRCm39)	T1538A	possibly damaging	Het
Cstf1	A	G	2: 172,214,905 (GRCm39)	K9E	probably damaging	Het
Dip2c	T	A	13: 9,625,186 (GRCm39)	M560K	probably benign	Het
Dsg1a	A	T	18: 20,466,779 (GRCm39)	T550S	probably benign	Het
Dtnb	A	G	12: 3,799,505 (GRCm39)	E460G	probably damaging	Het
Dus1l	GAGGTAAG	GAG	11: 120,680,584 (GRCm39)		probably benign	Het
Efl1	T	A	7: 82,320,927 (GRCm39)	V120E	probably damaging	Het
Fbxl13	T	C	5: 21,689,001 (GRCm39)	Y769C	probably benign	Het
Fcho2	T	C	13: 98,942,874 (GRCm39)	Y22C	probably damaging	Het
Flacc1	G	A	1: 58,709,567 (GRCm39)	A196V	probably benign	Het
Gbp3	T	C	3: 142,273,335 (GRCm39)	V294A	probably damaging	Het
Gls	A	G	1: 52,239,104 (GRCm39)		probably benign	Het
Gm15130	A	T	2: 110,965,714 (GRCm39)		probably benign	Het
Gm6185	A	T	1: 161,040,728 (GRCm39)		noncoding transcript	Het
Gpr171	T	A	3: 59,005,517 (GRCm39)	H86L	probably damaging	Het
Gpr179	T	C	11: 97,230,074 (GRCm39)	T694A	probably damaging	Het
H2-Aa	A	T	17: 34,502,794 (GRCm39)	V124E	probably damaging	Het
H2bc13	A	G	13: 21,900,135 (GRCm39)	M60T	probably benign	Het
H2-M5	A	G	17: 37,300,309 (GRCm39)		probably benign	Het
Igf2r	A	T	17: 12,902,984 (GRCm39)	N2355K	probably damaging	Het
Il9r	A	C	11: 32,142,654 (GRCm39)	S295A	possibly damaging	Het
Ipo9	T	C	1: 135,334,288 (GRCm39)	T313A	probably benign	Het
Kalrn	C	T	16: 34,334,389 (GRCm39)		probably benign	Het
Lama3	G	A	18: 12,610,661 (GRCm39)	V1175M	possibly damaging	Het
Lhpp	T	A	7: 132,272,104 (GRCm39)	C242*	probably null	Het
Lipe	A	G	7: 25,079,568 (GRCm39)	S1013P	probably damaging	Het
Lrrc25	C	T	8: 71,070,726 (GRCm39)	T169I	probably benign	Het
Lrrc39	T	C	3: 116,362,515 (GRCm39)		probably null	Het
Lrrd1	T	A	5: 3,901,126 (GRCm39)	L477*	probably null	Het
Lrriq4	A	G	3: 30,714,196 (GRCm39)	I515V	possibly damaging	Het
Magel2	A	G	7: 62,030,840 (GRCm39)	Y1248C	unknown	Het
Maml1	G	T	11: 50,149,162 (GRCm39)	N859K	possibly damaging	Het
Mdm1	A	T	10: 117,982,782 (GRCm39)	H139L	possibly damaging	Het
Mef2d	C	T	3: 88,075,397 (GRCm39)	P420S	possibly damaging	Het
Mgat4b	A	G	11: 50,101,848 (GRCm39)	K38E	probably benign	Het
Mtmr4	T	C	11: 87,494,923 (GRCm39)	V405A	probably damaging	Het
Naip5	G	A	13: 100,356,195 (GRCm39)	T1140M	probably benign	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	A	13: 100,356,189 (GRCm39)	S1142F	probably benign	Het
Nfe2l3	T	C	6: 51,433,604 (GRCm39)	S239P	probably damaging	Het
Nlrp3	A	G	11: 59,439,127 (GRCm39)	I235V	probably benign	Het
Nyap2	T	A	1: 81,219,028 (GRCm39)	L318Q	probably damaging	Het
Nynrin	G	A	14: 56,109,458 (GRCm39)	V1522M	probably damaging	Het
Oog3	A	G	4: 143,885,731 (GRCm39)	L289P	probably damaging	Het
Or52n20	C	T	7: 104,319,942 (GRCm39)	P11L	probably benign	Het
Or5b107	A	G	19: 13,142,488 (GRCm39)	I37V	probably benign	Het
Or6c69b	T	C	10: 129,627,308 (GRCm39)	D50G	probably damaging	Het
Or8b12b	T	A	9: 37,684,726 (GRCm39)	M257K	possibly damaging	Het
Or9g20	A	T	2: 85,630,391 (GRCm39)	N74K	probably benign	Het
Pax6	T	C	2: 105,514,129 (GRCm39)		probably benign	Het
Pbrm1	G	A	14: 30,832,405 (GRCm39)	R1441K	probably benign	Het
Pcdha9	C	T	18: 37,132,511 (GRCm39)	R527W	probably damaging	Het
Pcdhb17	T	C	18: 37,620,450 (GRCm39)	S747P	probably benign	Het
Pcnx3	A	C	19: 5,738,023 (GRCm39)		probably null	Het
Pds5a	A	T	5: 65,808,632 (GRCm39)	V413E	probably damaging	Het
Phpt1	G	T	2: 25,464,332 (GRCm39)		probably benign	Het
Phykpl	A	G	11: 51,483,780 (GRCm39)	E220G	probably benign	Het
Pias2	T	C	18: 77,193,587 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,269,639 (GRCm39)	I3302L	probably damaging	Het
Poli	A	G	18: 70,655,822 (GRCm39)	L241P	probably damaging	Het
Ppm1h	T	A	10: 122,515,284 (GRCm39)	I65N	possibly damaging	Het
Ptpn14	T	C	1: 189,588,997 (GRCm39)	L954P	probably damaging	Het
Pxk	T	G	14: 8,136,893 (GRCm38)	M138R	probably damaging	Het
Rasl11b	G	T	5: 74,359,058 (GRCm39)	D188Y	probably damaging	Het
Rtraf	A	G	14: 19,872,644 (GRCm39)	F59S	probably benign	Het
Sanbr	A	C	11: 23,565,243 (GRCm39)	I248S	possibly damaging	Het
Serpinb5	G	T	1: 106,800,069 (GRCm39)	L86F	probably damaging	Het
Setdb2	G	A	14: 59,651,095 (GRCm39)	T412I	probably benign	Het
Shank2	C	A	7: 143,606,043 (GRCm39)	N75K	probably damaging	Het
Shank3	T	A	15: 89,427,318 (GRCm39)	I791N	probably damaging	Het
Slc25a13	T	A	6: 6,114,274 (GRCm39)	M213L	possibly damaging	Het
Slc25a21	T	C	12: 56,760,623 (GRCm39)	Y298C	probably damaging	Het
Slc34a2	A	G	5: 53,226,362 (GRCm39)	N495S	probably damaging	Het
Smc2	A	G	4: 52,451,231 (GRCm39)	T292A	probably benign	Het
Spag9	T	C	11: 93,939,425 (GRCm39)		probably benign	Het
Tas2r113	C	T	6: 132,870,745 (GRCm39)	P258S	probably benign	Het
Tbkbp1	T	C	11: 97,029,567 (GRCm39)	S530G	probably benign	Het
Tenm2	A	G	11: 35,918,117 (GRCm39)	V1881A	probably damaging	Het
Tm9sf1	C	T	14: 55,878,606 (GRCm39)	R262Q	possibly damaging	Het
Tmcc3	G	T	10: 94,414,646 (GRCm39)	G147V	possibly damaging	Het
Trim38	A	T	13: 23,972,264 (GRCm39)	E195V	probably damaging	Het
Try5	T	C	6: 41,290,349 (GRCm39)	Y45C	probably benign	Het
Umad1	A	C	6: 8,457,462 (GRCm39)		probably benign	Het
Vmn2r105	T	C	17: 20,428,953 (GRCm39)	I708V	probably benign	Het
Zc3h12d	A	T	10: 7,743,711 (GRCm39)	S494C	probably damaging	Het
Zeb2	A	G	2: 44,887,780 (GRCm39)	S382P	probably damaging	Het
Zfc3h1	A	G	10: 115,251,599 (GRCm39)	S1304G	probably benign	Het
Zfp287	G	T	11: 62,605,074 (GRCm39)	T611K	probably damaging	Het
Zfp534	G	A	4: 147,758,743 (GRCm39)	T642I	possibly damaging	Het

Other mutations in Bicra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Bicra	APN	7	15,730,502 (GRCm39)	missense	possibly damaging	0.70
IGL01521:Bicra	APN	7	15,723,113 (GRCm39)	missense	probably benign	0.18
IGL01690:Bicra	APN	7	15,721,678 (GRCm39)	missense	probably benign	0.09
IGL01721:Bicra	APN	7	15,722,624 (GRCm39)	missense	probably benign
IGL01994:Bicra	APN	7	15,706,741 (GRCm39)	missense	possibly damaging	0.46
IGL02084:Bicra	APN	7	15,721,663 (GRCm39)	missense	probably benign	0.09
IGL02312:Bicra	APN	7	15,727,066 (GRCm39)	missense	possibly damaging	0.85
IGL02686:Bicra	APN	7	15,721,840 (GRCm39)	missense	probably benign	0.02
IGL02727:Bicra	APN	7	15,713,390 (GRCm39)	missense	possibly damaging	0.95
IGL03031:Bicra	APN	7	15,709,726 (GRCm39)	missense	probably benign	0.16
R0003:Bicra	UTSW	7	15,705,812 (GRCm39)	missense	probably benign
R0025:Bicra	UTSW	7	15,721,436 (GRCm39)	missense	possibly damaging	0.53
R0241:Bicra	UTSW	7	15,709,070 (GRCm39)	missense	probably damaging	1.00
R0241:Bicra	UTSW	7	15,709,070 (GRCm39)	missense	probably damaging	1.00
R0417:Bicra	UTSW	7	15,706,247 (GRCm39)	missense	probably damaging	1.00
R0437:Bicra	UTSW	7	15,722,687 (GRCm39)	missense	possibly damaging	0.73
R0547:Bicra	UTSW	7	15,706,173 (GRCm39)	missense	probably damaging	1.00
R0688:Bicra	UTSW	7	15,723,247 (GRCm39)	missense	probably damaging	1.00
R0855:Bicra	UTSW	7	15,705,929 (GRCm39)	missense	probably damaging	1.00
R1448:Bicra	UTSW	7	15,722,284 (GRCm39)	missense	possibly damaging	0.86
R1637:Bicra	UTSW	7	15,706,614 (GRCm39)	missense	probably benign	0.19
R1899:Bicra	UTSW	7	15,721,676 (GRCm39)	missense	possibly damaging	0.53
R2035:Bicra	UTSW	7	15,730,338 (GRCm39)	missense	possibly damaging	0.53
R2247:Bicra	UTSW	7	15,723,159 (GRCm39)	missense	probably benign	0.33
R2471:Bicra	UTSW	7	15,706,257 (GRCm39)	missense	probably benign	0.04
R2484:Bicra	UTSW	7	15,722,605 (GRCm39)	missense	possibly damaging	0.96
R3437:Bicra	UTSW	7	15,723,223 (GRCm39)	missense	possibly damaging	0.85
R3551:Bicra	UTSW	7	15,713,658 (GRCm39)	missense	probably benign	0.33
R4901:Bicra	UTSW	7	15,721,526 (GRCm39)	missense	possibly damaging	0.53
R5035:Bicra	UTSW	7	15,713,349 (GRCm39)	missense	possibly damaging	0.90
R5078:Bicra	UTSW	7	15,709,382 (GRCm39)	missense	probably damaging	1.00
R5094:Bicra	UTSW	7	15,709,296 (GRCm39)	missense	probably damaging	1.00
R5195:Bicra	UTSW	7	15,713,878 (GRCm39)	missense	possibly damaging	0.93
R5496:Bicra	UTSW	7	15,721,766 (GRCm39)	missense	probably benign	0.33
R5780:Bicra	UTSW	7	15,713,679 (GRCm39)	missense	possibly damaging	0.96
R6541:Bicra	UTSW	7	15,713,054 (GRCm39)	missense	probably benign	0.00
R6560:Bicra	UTSW	7	15,723,119 (GRCm39)	missense	possibly damaging	0.53
R6575:Bicra	UTSW	7	15,713,056 (GRCm39)	missense	probably benign	0.25
R6854:Bicra	UTSW	7	15,722,687 (GRCm39)	missense	probably benign	0.18
R6967:Bicra	UTSW	7	15,706,130 (GRCm39)	missense	probably damaging	0.97
R7283:Bicra	UTSW	7	15,706,425 (GRCm39)	missense	probably damaging	1.00
R7454:Bicra	UTSW	7	15,706,059 (GRCm39)	missense	probably benign	0.30
R7462:Bicra	UTSW	7	15,713,060 (GRCm39)	missense	possibly damaging	0.84
R7488:Bicra	UTSW	7	15,723,367 (GRCm39)	critical splice acceptor site	probably null
R7506:Bicra	UTSW	7	15,722,138 (GRCm39)	missense	possibly damaging	0.96
R7534:Bicra	UTSW	7	15,705,860 (GRCm39)	missense	probably damaging	0.98
R7915:Bicra	UTSW	7	15,722,447 (GRCm39)	missense	probably benign
R8063:Bicra	UTSW	7	15,712,969 (GRCm39)	missense	probably benign
R8147:Bicra	UTSW	7	15,722,395 (GRCm39)	missense	possibly damaging	0.93
R8699:Bicra	UTSW	7	15,723,113 (GRCm39)	missense	probably benign	0.18
R8784:Bicra	UTSW	7	15,705,875 (GRCm39)	missense	probably damaging	1.00
R8859:Bicra	UTSW	7	15,721,737 (GRCm39)	missense	possibly damaging	0.73
R8971:Bicra	UTSW	7	15,721,481 (GRCm39)	missense	probably benign	0.08
R9487:Bicra	UTSW	7	15,705,717 (GRCm39)	missense	probably damaging	0.99
R9614:Bicra	UTSW	7	15,705,880 (GRCm39)	missense	probably damaging	1.00
R9721:Bicra	UTSW	7	15,713,101 (GRCm39)	missense	probably damaging	1.00
R9777:Bicra	UTSW	7	15,705,987 (GRCm39)	missense	probably benign	0.09
X0064:Bicra	UTSW	7	15,709,700 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACACCGAGTTCCCGTTGAG -3'
(R):5'- CTTCAGGAGGCCAACATCAC -3'

Sequencing Primer
(F):5'- CACTGCGGCTGGAAGATTTTTC -3'
(R):5'- TACAGCCCGCTGACAATGG -3'

Posted On

2016-02-04