Mutagenetix > Incidental Mutation

Incidental Mutation 'R6560:Bicra'

522008

Institutional Source

Beutler Lab

Gene Symbol

Bicra

Ensembl Gene

ENSMUSG00000070808

Gene Name

BRD4 interacting chromatin remodeling complex associated protein

Synonyms

Gltscr1

MMRRC Submission

044684-MU

Accession Numbers

Essential gene?

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

Stock #

R6560 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15704597-15781846 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15723119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 133 (T133A)

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: T133A

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

SMART Domains

Protein: ENSMUSP00000092416
Gene: ENSMUSG00000070808
AA Change: T133A

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: T133A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,843,230 (GRCm39)	L1235Q	probably damaging	Het
Acin1	T	C	14: 54,916,290 (GRCm39)	T174A	probably benign	Het
Adamtsl1	G	A	4: 86,255,130 (GRCm39)	R733H	probably damaging	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Arsk	A	T	13: 76,223,105 (GRCm39)	I164N	probably benign	Het
Bbs5	T	A	2: 69,487,300 (GRCm39)	N194K	probably damaging	Het
Card6	G	A	15: 5,128,367 (GRCm39)	P1010S	probably damaging	Het
Ccdc18	T	A	5: 108,339,790 (GRCm39)	N778K	probably benign	Het
Cept1	T	C	3: 106,412,594 (GRCm39)	I240V	possibly damaging	Het
Crip3	A	G	17: 46,741,962 (GRCm39)	R150G	probably damaging	Het
Cyp2c50	A	G	19: 40,085,299 (GRCm39)	T320A	probably benign	Het
Dio2	G	C	12: 90,696,607 (GRCm39)	S127*	probably null	Het
Dnai3	T	C	3: 145,801,161 (GRCm39)	E99G	possibly damaging	Het
Dscam	T	C	16: 96,626,935 (GRCm39)	S325G	probably benign	Het
Exosc4	A	G	15: 76,211,813 (GRCm39)	I41V	probably benign	Het
Glb1l3	C	T	9: 26,739,720 (GRCm39)		probably null	Het
Gm10801	C	CGTG	2: 98,494,152 (GRCm39)		probably null	Het
Gm3072	T	A	14: 41,345,510 (GRCm39)	D89V	unknown	Het
Gosr2	T	C	11: 103,577,508 (GRCm39)	H79R	probably damaging	Het
Has2	T	A	15: 56,531,660 (GRCm39)	T352S	probably damaging	Het
Insig1	T	A	5: 28,276,531 (GRCm39)	C32*	probably null	Het
Klf9	A	G	19: 23,119,314 (GRCm39)	S66G	probably damaging	Het
Mfn1	T	C	3: 32,623,665 (GRCm39)	I263T	probably damaging	Het
Myl2	G	A	5: 122,240,834 (GRCm39)	G38R	probably null	Het
Negr1	A	G	3: 157,018,494 (GRCm39)	T332A	probably benign	Het
Neo1	A	G	9: 58,787,884 (GRCm39)	S1417P	possibly damaging	Het
Or52ab4	T	C	7: 102,987,945 (GRCm39)	F228S	probably benign	Het
Or7e168	G	A	9: 19,720,412 (GRCm39)	S266N	probably benign	Het
Pcgf3	C	A	5: 108,621,768 (GRCm39)	H35Q	probably damaging	Het
Plppr5	A	G	3: 117,465,639 (GRCm39)	I297V	probably benign	Het
Plxna4	C	T	6: 32,192,613 (GRCm39)	V783M	probably damaging	Het
Prx	A	T	7: 27,214,746 (GRCm39)	Q85H	probably damaging	Het
Tex14	T	G	11: 87,388,688 (GRCm39)	M305R	possibly damaging	Het
Ythdc1	T	C	5: 86,964,467 (GRCm39)	V92A	probably benign	Het
Zfp619	G	A	7: 39,186,954 (GRCm39)	E995K	probably damaging	Het
Zfp90	A	G	8: 107,142,379 (GRCm39)	R4G	probably 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
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
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
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'- TGAAGGGTCACATTGCCCAG -3'
(R):5'- TGGACCTGGACTTCCTAGAAG -3'

Sequencing Primer
(F):5'- ACGCTCAAGGCCTTGTTGAC -3'
(R):5'- CCTGGACTTCCTAGAAGATGATATC -3'

Posted On

2018-06-06