Mutagenetix > Incidental Mutation

Incidental Mutation 'R5094:Bicra'

387986

Institutional Source

Beutler Lab

Gene Symbol

Bicra

Ensembl Gene

ENSMUSG00000070808

Gene Name

BRD4 interacting chromatin remodeling complex associated protein

Synonyms

Gltscr1

MMRRC Submission

042683-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

R5094 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15704597-15781846 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15709296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1173 (S1173P)

Ref Sequence

ENSEMBL: ENSMUSP00000148012 (fasta)

Gene Model

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

AlphaFold

F8VPZ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000094821
AA Change: S1173P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092416
Gene: ENSMUSG00000070808
AA Change: S1173P

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: ENSMUST00000209251

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210035

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210713

Predicted Effect

probably damaging
Transcript: ENSMUST00000210781
AA Change: S1173P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.1192

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

91% (40/44)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	T	15: 81,946,883 (GRCm39)	G260V	possibly damaging	Het
Agap3	T	C	5: 24,656,319 (GRCm39)		probably benign	Het
C3	A	T	17: 57,532,033 (GRCm39)		probably null	Het
Cdh18	G	A	15: 22,714,625 (GRCm39)		probably benign	Het
Cep290	A	G	10: 100,402,892 (GRCm39)	K2274E	probably damaging	Het
Cfap54	T	C	10: 92,734,861 (GRCm39)		probably benign	Het
Chat	T	A	14: 32,130,896 (GRCm39)	I582F	probably damaging	Het
Chrnb4	T	C	9: 54,942,597 (GRCm39)	I226V	probably benign	Het
Dnajc2	T	C	5: 21,981,730 (GRCm39)	T139A	probably damaging	Het
Eml1	T	C	12: 108,502,570 (GRCm39)	F712S	probably benign	Het
Fgfr1	C	T	8: 26,060,181 (GRCm39)	S524L	probably damaging	Het
Gimap3	T	C	6: 48,742,306 (GRCm39)	E208G	probably damaging	Het
Gm12185	T	A	11: 48,798,375 (GRCm39)	D706V	probably benign	Het
Gucy1a2	T	A	9: 3,865,443 (GRCm39)	V639D	probably damaging	Het
Hivep2	T	C	10: 14,007,893 (GRCm39)	F1497S	probably benign	Het
Hunk	A	G	16: 90,293,554 (GRCm39)	D612G	probably benign	Het
Ifit3b	T	A	19: 34,589,948 (GRCm39)	S375T	possibly damaging	Het
Mucl1	A	G	15: 103,785,669 (GRCm39)	S13P	possibly damaging	Het
Or5w12	C	T	2: 87,502,174 (GRCm39)	C179Y	possibly damaging	Het
Or8k20	T	A	2: 86,106,384 (GRCm39)	Y149F	probably damaging	Het
Pah	T	A	10: 87,374,081 (GRCm39)	Y78*	probably null	Het
Pex13	A	G	11: 23,605,441 (GRCm39)	V263A	probably benign	Het
Pfdn2	T	A	1: 171,184,067 (GRCm39)		probably benign	Het
Phip	C	T	9: 82,753,897 (GRCm39)	V1616I	probably benign	Het
Pigg	A	G	5: 108,484,123 (GRCm39)	S457G	possibly damaging	Het
Ppp1r13b	A	G	12: 111,810,044 (GRCm39)	S97P	probably benign	Het
Slc22a6	T	C	19: 8,603,541 (GRCm39)	L535P	probably damaging	Het
Slc5a1	A	G	5: 33,315,624 (GRCm39)	T548A	probably damaging	Het
Smtnl2	T	A	11: 72,291,211 (GRCm39)	S346C	probably damaging	Het
Spata31d1a	A	G	13: 59,852,858 (GRCm39)		probably null	Het
Tlcd2	T	C	11: 75,360,640 (GRCm39)	S228P	probably benign	Het
Tmem135	A	G	7: 88,793,001 (GRCm39)	L411P	probably damaging	Het
Tnrc6c	T	C	11: 117,611,872 (GRCm39)	V170A	probably benign	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
R4816:Bicra	UTSW	7	15,722,831 (GRCm39)	missense	possibly damaging	0.53
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
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'- TGACTCTCTGGGTTGATAGAAAGG -3'
(R):5'- TCAGTATTCAGGCCACGGAG -3'

Sequencing Primer
(F):5'- CTCTGGGTTGATAGAAAGGACATATG -3'
(R):5'- CATTGCGTGCTTGCCCG -3'

Posted On

2016-06-06