Mutagenetix > Incidental Mutation

Incidental Mutation 'R4471:Msc'

329401

Institutional Source

Beutler Lab

Gene Symbol

Msc

Ensembl Gene

ENSMUSG00000025930

Gene Name

musculin

Synonyms

MyoR, bHLHa22

MMRRC Submission

041728-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R4471 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

14823570-14826216 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 14825902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 24 (P24R)

Ref Sequence

ENSEMBL: ENSMUSP00000027062 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027062] [ENSMUST00000190719]

AlphaFold

O88940

Predicted Effect

probably damaging
Transcript: ENSMUST00000027062
AA Change: P24R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027062
Gene: ENSMUSG00000025930
AA Change: P24R

Domain	Start	End	E-Value	Type
low complexity region	48	55	N/A	INTRINSIC
low complexity region	66	94	N/A	INTRINSIC
HLH	108	160	1.8e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000067599

SMART Domains

Protein: ENSMUSP00000063770
Gene: ENSMUSG00000054493

Domain	Start	End	E-Value	Type
low complexity region	15	23	N/A	INTRINSIC
low complexity region	106	124	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187401

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190471

Predicted Effect

probably benign
Transcript: ENSMUST00000190719

SMART Domains

Protein: ENSMUSP00000140741
Gene: ENSMUSG00000025930

Domain	Start	End	E-Value	Type
low complexity region	21	30	N/A	INTRINSIC

Meta Mutation Damage Score

0.0726

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcriptional repressor capable of binding an E-box element either as a homodimer or as a heterodimer with E2A in vitro. The encoded protein also forms heterodimers with E2A proteins in vivo. This protein is capable of inhibiting the transactivation capability of E47, an E2A protein, in mammalian cells. This gene is a downstream target of the B-cell receptor signal transduction pathway. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation are obtained at predicted Mendelian ratios and exhibit no obvious phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	A	G	3: 127,473,175 (GRCm39)	S943P	probably damaging	Het
Ankdd1a	T	C	9: 65,410,791 (GRCm39)	D398G	probably damaging	Het
Ankrd13b	T	A	11: 77,367,040 (GRCm39)	K49M	probably damaging	Het
Asah1	A	G	8: 41,796,761 (GRCm39)		probably null	Het
Cdc34b	A	G	11: 94,633,064 (GRCm39)	E88G	probably benign	Het
Cdh2	T	C	18: 16,907,533 (GRCm39)		probably null	Het
Ceacam1	T	A	7: 25,174,025 (GRCm39)	N210I	possibly damaging	Het
Celf3	A	G	3: 94,395,585 (GRCm39)		probably null	Het
Cfap20dc	A	G	14: 8,536,571 (GRCm38)	L212P	probably damaging	Het
Cmya5	A	T	13: 93,228,833 (GRCm39)	M2085K	probably benign	Het
Cpne6	G	A	14: 55,754,089 (GRCm39)	V469M	probably damaging	Het
Cyp2j12	A	G	4: 96,021,306 (GRCm39)	V100A	probably benign	Het
Dnajb4	A	T	3: 151,890,799 (GRCm39)	H333Q	probably benign	Het
Eif3f	T	C	7: 108,540,153 (GRCm39)	V316A	possibly damaging	Het
Eml1	T	C	12: 108,472,894 (GRCm39)		probably benign	Het
Ern1	C	A	11: 106,310,868 (GRCm39)	V302L	possibly damaging	Het
Fam110b	A	T	4: 5,799,092 (GRCm39)	H170L	probably benign	Het
Fn3krp	T	G	11: 121,317,499 (GRCm39)	D146E	probably benign	Het
Git1	A	G	11: 77,390,650 (GRCm39)	T129A	probably benign	Het
Glrp1	T	A	1: 88,431,196 (GRCm39)	Q58L	unknown	Het
Gpatch2	A	G	1: 186,965,337 (GRCm39)	E281G	probably damaging	Het
Hipk2	T	A	6: 38,713,857 (GRCm39)		probably benign	Het
Hydin	A	G	8: 111,313,764 (GRCm39)	N4214S	probably damaging	Het
Icam5	T	A	9: 20,946,802 (GRCm39)	C443*	probably null	Het
Impdh1	G	A	6: 29,204,631 (GRCm39)	Q307*	probably null	Het
Ivns1abp	C	T	1: 151,236,990 (GRCm39)	T447M	probably benign	Het
Lman1	A	T	18: 66,124,797 (GRCm39)		probably benign	Het
Mdn1	A	G	4: 32,668,860 (GRCm39)	E306G	probably benign	Het
Mtif2	T	C	11: 29,490,053 (GRCm39)		probably benign	Het
Mvp	C	T	7: 126,601,130 (GRCm39)	M1I	probably null	Het
Myh7	A	T	14: 55,229,311 (GRCm39)	Y162*	probably null	Het
Nemf	G	A	12: 69,361,216 (GRCm39)	H956Y	probably benign	Het
Nktr	T	C	9: 121,577,962 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 90,171,515 (GRCm39)	S276P	probably damaging	Het
Or8d1	T	C	9: 38,766,927 (GRCm39)	S190P	probably damaging	Het
Patj	A	G	4: 98,423,816 (GRCm39)	K621E	probably damaging	Het
Prss2	A	G	6: 41,499,780 (GRCm39)	I24V	probably damaging	Het
R3hcc1l	T	C	19: 42,571,259 (GRCm39)		probably benign	Het
Rest	T	C	5: 77,429,027 (GRCm39)	V482A	probably benign	Het
Rexo1	A	T	10: 80,378,492 (GRCm39)	S476T	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Slc16a3	T	C	11: 120,846,774 (GRCm39)		probably benign	Het
Slc5a4b	G	A	10: 75,894,725 (GRCm39)	Q594*	probably null	Het
Slk	T	G	19: 47,603,862 (GRCm39)	V202G	probably damaging	Het
Smarca2	T	A	19: 26,597,277 (GRCm39)	V53D	possibly damaging	Het
Snrnp200	T	A	2: 127,080,673 (GRCm39)	V2036E	probably benign	Het
Sox5	A	G	6: 143,790,491 (GRCm39)	M523T	possibly damaging	Het
Syt17	A	G	7: 118,036,040 (GRCm39)		probably null	Het
Taf2	T	C	15: 54,922,276 (GRCm39)	D337G	possibly damaging	Het
Tcstv2a	G	T	13: 120,725,579 (GRCm39)	R81L	probably benign	Het
Tecrl	A	G	5: 83,461,134 (GRCm39)	Y108H	probably benign	Het
Tln1	A	T	4: 43,551,018 (GRCm39)	F409L	probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Ttc23	G	A	7: 67,319,904 (GRCm39)	R187Q	probably benign	Het
Ttl	T	C	2: 128,923,977 (GRCm39)	V230A	probably benign	Het
Ube2u	G	A	4: 100,338,843 (GRCm39)	W36*	probably null	Het
Ube4a	A	T	9: 44,857,830 (GRCm39)		probably benign	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Unc45a	A	G	7: 79,982,728 (GRCm39)	I399T	possibly damaging	Het
Utp25	C	T	1: 192,812,445 (GRCm39)	R5Q	possibly damaging	Het
Wdr59	A	C	8: 112,193,419 (GRCm39)		probably null	Het
Zfp24	A	G	18: 24,151,172 (GRCm39)		probably benign	Het
Zfp777	A	T	6: 48,019,041 (GRCm39)	W342R	probably damaging	Het
Zfp979	A	T	4: 147,697,913 (GRCm39)	C265*	probably null	Het
Zzef1	T	A	11: 72,804,157 (GRCm39)	L2633Q	probably damaging	Het

Other mutations in Msc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2081:Msc	UTSW	1	14,825,941 (GRCm39)	missense	probably benign	0.24
R2094:Msc	UTSW	1	14,825,908 (GRCm39)	missense	probably benign	0.27
R2495:Msc	UTSW	1	14,825,473 (GRCm39)	missense	probably benign	0.14
R4409:Msc	UTSW	1	14,825,902 (GRCm39)	missense	probably damaging	0.97
R4470:Msc	UTSW	1	14,825,902 (GRCm39)	missense	probably damaging	0.97
R4654:Msc	UTSW	1	14,826,053 (GRCm39)	splice site	probably null
R5073:Msc	UTSW	1	14,824,537 (GRCm39)	missense	probably benign	0.02
R5385:Msc	UTSW	1	14,825,644 (GRCm39)	missense	probably damaging	1.00
R5399:Msc	UTSW	1	14,825,780 (GRCm39)	missense	probably benign	0.01
R6547:Msc	UTSW	1	14,825,969 (GRCm39)	missense	possibly damaging	0.95
R6799:Msc	UTSW	1	14,825,491 (GRCm39)	missense	probably damaging	0.99
R9342:Msc	UTSW	1	14,825,707 (GRCm39)	missense	probably benign	0.22
R9444:Msc	UTSW	1	14,825,714 (GRCm39)	missense	probably damaging	1.00
Z1176:Msc	UTSW	1	14,825,463 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGAAGGCTTTGCTCAGCAC -3'
(R):5'- AGTCAAGTTCAGCAGAGCCC -3'

Sequencing Primer
(F):5'- GCGACTGCTTGCACTCTG -3'
(R):5'- CTACAGGGTCAGCAGCAGATC -3'

Posted On

2015-07-21