Incidental Mutation 'R6547:Msc'
ID 521234
Institutional Source Beutler Lab
Gene Symbol Msc
Ensembl Gene ENSMUSG00000025930
Gene Name musculin
Synonyms MyoR, bHLHa22
MMRRC Submission 044672-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.235) question?
Stock # R6547 (G1)
Quality Score 99.0078
Status Validated
Chromosome 1
Chromosomal Location 14823570-14826216 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 14825969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 2 (S2A)
Ref Sequence ENSEMBL: ENSMUSP00000027062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027062] [ENSMUST00000190719]
AlphaFold O88940
Predicted Effect possibly damaging
Transcript: ENSMUST00000027062
AA Change: S2A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027062
Gene: ENSMUSG00000025930
AA Change: S2A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 21 30 N/A INTRINSIC
Meta Mutation Damage Score 0.0726 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.4%
Validation Efficiency 98% (53/54)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A T 2: 68,490,251 (GRCm39) probably benign Het
Abca13 T A 11: 9,224,757 (GRCm39) V490E probably benign Het
Abca2 G T 2: 25,323,350 (GRCm39) G106V possibly damaging Het
Ablim3 T C 18: 61,957,000 (GRCm39) T276A probably benign Het
Anxa7 A G 14: 20,519,461 (GRCm39) V119A probably benign Het
Arl9 A G 5: 77,158,257 (GRCm39) probably null Het
Atm T C 9: 53,351,457 (GRCm39) Y2964C probably damaging Het
Bbs9 T C 9: 22,425,365 (GRCm39) Y140H probably benign Het
Calcr A T 6: 3,717,177 (GRCm39) D94E probably damaging Het
Celsr3 T A 9: 108,706,327 (GRCm39) Y937N probably damaging Het
Cemip2 A T 19: 21,822,195 (GRCm39) T1197S probably benign Het
Clca3a1 C T 3: 144,442,708 (GRCm39) A779T probably damaging Het
Clec9a T A 6: 129,393,339 (GRCm39) V94D probably benign Het
Colec12 G T 18: 9,840,351 (GRCm39) L57F probably damaging Het
Fa2h T C 8: 112,074,652 (GRCm39) Y317C probably damaging Het
Flnc A G 6: 29,448,607 (GRCm39) T1282A probably damaging Het
Gm10801 AAGT AAGTAGT 2: 98,494,148 (GRCm39) probably null Het
Hcn2 G T 10: 79,552,986 (GRCm39) V162L probably benign Het
Hycc1 T C 5: 24,170,098 (GRCm39) N417S probably benign Het
Kbtbd11 T A 8: 15,077,641 (GRCm39) V80E possibly damaging Het
Lama4 A G 10: 38,949,652 (GRCm39) D915G probably damaging Het
Limch1 A T 5: 67,186,117 (GRCm39) E806V probably damaging Het
Mppe1 T C 18: 67,362,059 (GRCm39) I169V probably benign Het
Nploc4 A G 11: 120,319,348 (GRCm39) probably null Het
Nr3c2 A T 8: 77,635,438 (GRCm39) I180F possibly damaging Het
Nrap G T 19: 56,339,998 (GRCm39) H840N probably benign Het
Or8a1 T A 9: 37,641,791 (GRCm39) M163L probably benign Het
Pate13 T A 9: 35,819,781 (GRCm39) M15K probably null Het
Pdlim1 G A 19: 40,211,564 (GRCm39) T243I probably damaging Het
Pfkl T A 10: 77,831,188 (GRCm39) M318L probably benign Het
Rap1gds1 C A 3: 138,661,099 (GRCm39) R426L probably damaging Het
Ric1 A G 19: 29,572,226 (GRCm39) N674D probably damaging Het
Rp1 G A 1: 4,240,528 (GRCm39) T875I unknown Het
Rtn1 G T 12: 72,355,535 (GRCm39) S137Y possibly damaging Het
Scn2a A G 2: 65,546,241 (GRCm39) I935V probably benign Het
Serpina1a C T 12: 103,822,180 (GRCm39) V251M probably damaging Het
Slc19a3 A G 1: 83,000,621 (GRCm39) V132A probably damaging Het
Slc26a6 T A 9: 108,737,981 (GRCm39) probably null Het
Slc2a5 T A 4: 150,220,076 (GRCm39) V164D possibly damaging Het
Slc4a1 T A 11: 102,247,561 (GRCm39) T441S probably damaging Het
Stk33 T C 7: 108,920,042 (GRCm39) I366V possibly damaging Het
Syt14 G T 1: 192,584,177 (GRCm39) H696N possibly damaging Het
Tcaim T A 9: 122,643,531 (GRCm39) V77D probably benign Het
Tefm T G 11: 80,031,210 (GRCm39) probably null Het
Tekt3 T A 11: 62,961,304 (GRCm39) S158T possibly damaging Het
Tspan11 T A 6: 127,926,766 (GRCm39) M238K possibly damaging Het
Unc5c A T 3: 141,495,780 (GRCm39) T476S probably benign Het
Usp9y A T Y: 1,444,612 (GRCm39) L109Q probably damaging Homo
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vps13c C A 9: 67,880,647 (GRCm39) Q3495K probably damaging Het
Zbtb10 G A 3: 9,316,763 (GRCm39) A192T probably benign Het
Zfp316 A T 5: 143,239,952 (GRCm39) V689D probably damaging Het
Zswim1 A G 2: 164,666,716 (GRCm39) probably benign Het
Zswim5 T C 4: 116,844,100 (GRCm39) L1046P probably damaging Het
Other mutations in Msc
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TCTGGAGAAGGCTTTGCTC -3'
(R):5'- TACAGGGTCAGCAGCAGATC -3'

Sequencing Primer
(F):5'- AGAAGGCTTTGCTCAGCAC -3'
(R):5'- AGATCGCGCCCACTCCAG -3'
Posted On 2018-06-06