Mutagenetix > Incidental Mutation

Incidental Mutation 'R2495:Msc'

250907

Institutional Source

Beutler Lab

Gene Symbol

Msc

Ensembl Gene

ENSMUSG00000025930

Gene Name

musculin

Synonyms

MyoR, bHLHa22

MMRRC Submission

040409-MU

Accession Numbers

Essential gene?

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

Stock #

R2495 (G1)

Quality Score

204

Status

Validated

Chromosome

Chromosomal Location

14823570-14826216 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 14825473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 167 (Y167S)

Ref Sequence

ENSEMBL: ENSMUSP00000027062 (fasta)

Gene Model

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

AlphaFold

O88940

Predicted Effect

probably benign
Transcript: ENSMUST00000027062
AA Change: Y167S

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000027062
Gene: ENSMUSG00000025930
AA Change: Y167S

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

silent
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

0.1588

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (63/64)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	C	3: 36,536,109 (GRCm39)	F125S	unknown	Het
Abhd17c	C	T	7: 83,759,884 (GRCm39)	W290*	probably null	Het
Acsl5	A	T	19: 55,282,031 (GRCm39)	K536*	probably null	Het
Adamts14	A	T	10: 61,034,749 (GRCm39)		probably null	Het
Agbl3	A	G	6: 34,823,699 (GRCm39)	H788R	probably damaging	Het
Agrp	T	C	8: 106,293,408 (GRCm39)	N126D	possibly damaging	Het
Ambn	T	C	5: 88,615,663 (GRCm39)	I349T	probably benign	Het
Ank1	T	C	8: 23,622,280 (GRCm39)	W1610R	probably damaging	Het
Aox3	T	C	1: 58,227,567 (GRCm39)	L1224P	probably damaging	Het
Arhgef28	A	T	13: 98,165,881 (GRCm39)		probably benign	Het
Bcl11b	G	A	12: 107,881,706 (GRCm39)	H798Y	possibly damaging	Het
Capn11	T	A	17: 45,949,689 (GRCm39)	M426L	probably damaging	Het
Cep95	A	G	11: 106,700,108 (GRCm39)	K290E	possibly damaging	Het
Cic	A	G	7: 24,991,201 (GRCm39)		probably benign	Het
Cnbd1	A	T	4: 18,860,579 (GRCm39)	M389K	probably damaging	Het
Cnksr1	A	T	4: 133,959,473 (GRCm39)	L387Q	probably benign	Het
Cntrob	G	T	11: 69,213,749 (GRCm39)	P14T	probably damaging	Het
Crmp1	G	A	5: 37,403,441 (GRCm39)		probably null	Het
Dido1	A	G	2: 180,331,181 (GRCm39)	V89A	probably benign	Het
Dnah7a	T	A	1: 53,645,040 (GRCm39)	I999F	probably damaging	Het
Dsp	T	A	13: 38,377,453 (GRCm39)	L1746Q	possibly damaging	Het
Dst	T	C	1: 34,238,454 (GRCm39)	S3897P	probably damaging	Het
Fbxo10	A	G	4: 45,040,545 (GRCm39)	F887L	probably benign	Het
Gm21961	T	A	15: 64,886,722 (GRCm39)	H11L	unknown	Het
Gm4559	A	T	7: 141,827,557 (GRCm39)	C182S	unknown	Het
Golga3	T	A	5: 110,355,462 (GRCm39)	S939T	probably damaging	Het
Got2	A	G	8: 96,614,918 (GRCm39)	S6P	possibly damaging	Het
Gpatch8	A	T	11: 102,369,307 (GRCm39)	H1410Q	probably damaging	Het
Gpx5	T	A	13: 21,475,610 (GRCm39)	T39S	probably benign	Het
Grin2b	T	C	6: 135,710,180 (GRCm39)	Y1122C	probably damaging	Het
Gsn	A	C	2: 35,193,205 (GRCm39)	N538T	probably damaging	Het
Helz2	A	G	2: 180,874,705 (GRCm39)	S1930P	probably damaging	Het
Krt6b	A	T	15: 101,586,757 (GRCm39)	F286Y	probably damaging	Het
Lrriq1	G	A	10: 103,038,242 (GRCm39)	R854C	probably damaging	Het
Mipol1	A	T	12: 57,507,776 (GRCm39)		probably benign	Het
Mmp19	A	G	10: 128,626,819 (GRCm39)		probably benign	Het
Mycbp2	T	G	14: 103,437,554 (GRCm39)	K2103Q	probably damaging	Het
Myh11	C	A	16: 14,023,421 (GRCm39)	D1586Y	probably damaging	Het
Nol6	A	T	4: 41,118,427 (GRCm39)	D791E	probably damaging	Het
Pcm1	A	G	8: 41,746,616 (GRCm39)	T1272A	probably benign	Het
Phgdh	A	G	3: 98,247,105 (GRCm39)	L15P	probably damaging	Het
Ptprk	A	T	10: 28,351,074 (GRCm39)		probably benign	Het
Ralgapa2	G	T	2: 146,203,320 (GRCm39)	D1091E	possibly damaging	Het
Rbbp8nl	C	A	2: 179,920,895 (GRCm39)	K496N	probably null	Het
Rbm26	T	C	14: 105,388,748 (GRCm39)		probably benign	Het
Rfx6	A	C	10: 51,602,771 (GRCm39)		probably benign	Het
Rras	G	A	7: 44,667,488 (GRCm39)	G17R	probably damaging	Het
Shisa6	G	A	11: 66,108,459 (GRCm39)	P473S	probably damaging	Het
Slc9a3	A	G	13: 74,306,822 (GRCm39)	K316E	probably damaging	Het
Slco1a7	C	A	6: 141,711,503 (GRCm39)	M69I	probably benign	Het
Spata31d1a	A	G	13: 59,849,807 (GRCm39)	S774P	possibly damaging	Het
Spsb4	T	C	9: 96,877,840 (GRCm39)	Y161C	probably damaging	Het
Taf3	G	T	2: 9,957,644 (GRCm39)	N174K	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Trnt1	T	A	6: 106,750,330 (GRCm39)	V78E	possibly damaging	Het
Ubox5	A	T	2: 130,441,441 (GRCm39)	C415*	probably null	Het
Ucn2	C	T	9: 108,815,477 (GRCm39)	P80S	possibly damaging	Het
Vmn2r10	G	A	5: 109,143,961 (GRCm39)	T663I	probably damaging	Het
Wdfy1	A	T	1: 79,685,222 (GRCm39)	F337L	probably null	Het
Zfp287	A	T	11: 62,605,459 (GRCm39)	C483S	probably damaging	Het
Zyg11b	A	G	4: 108,101,921 (GRCm39)		probably null	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
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
R4471: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'- CTTGCCTTGATTCGGAGGTCAC -3'
(R):5'- CCAGCGACATTTCTTCTGCG -3'

Sequencing Primer
(F):5'- TTCGGAGGTCACTGAACCAGATTC -3'
(R):5'- CGCAGAGTGCAAGCAGTC -3'

Posted On

2014-12-04