Incidental Mutation 'R2081:Msc'
ID 229453
Institutional Source Beutler Lab
Gene Symbol Msc
Ensembl Gene ENSMUSG00000025930
Gene Name musculin
Synonyms MyoR, bHLHa22
MMRRC Submission 040086-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.235) question?
Stock # R2081 (G1)
Quality Score 220
Status Not validated
Chromosome 1
Chromosomal Location 14823570-14826216 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14825941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 11 (D11G)
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: D11G

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000027062
Gene: ENSMUSG00000025930
AA Change: D11G

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,211,085 (GRCm39) T28A possibly damaging Het
Actl11 G A 9: 107,807,396 (GRCm39) G573D probably benign Het
Adam39 T A 8: 41,279,879 (GRCm39) *757K probably null Het
Agpat4 T C 17: 12,370,771 (GRCm39) I38T possibly damaging Het
Ap3d1 A C 10: 80,568,770 (GRCm39) I36S probably damaging Het
Arhgap45 T C 10: 79,863,508 (GRCm39) F784L probably damaging Het
Atg5lrt T C 10: 95,972,601 (GRCm39) I46T possibly damaging Het
Atp10b T A 11: 43,092,955 (GRCm39) I430N probably damaging Het
Atrip T A 9: 108,901,807 (GRCm39) probably null Het
C2cd4b G T 9: 67,667,859 (GRCm39) R285L probably damaging Het
Camta1 T C 4: 151,228,699 (GRCm39) E711G probably benign Het
Clcn6 T C 4: 148,095,525 (GRCm39) Y685C probably damaging Het
Col18a1 T A 10: 76,890,019 (GRCm39) D1447V probably damaging Het
Crispld1 T A 1: 17,832,403 (GRCm39) V463D probably damaging Het
Crybg2 T G 4: 133,816,131 (GRCm39) F1612V possibly damaging Het
Dclk1 T C 3: 55,429,346 (GRCm39) probably null Het
Ddx46 G T 13: 55,821,829 (GRCm39) V834L probably benign Het
Dnah10 A G 5: 124,852,045 (GRCm39) D1734G possibly damaging Het
Dpep1 T C 8: 123,926,117 (GRCm39) V152A probably damaging Het
Ect2l T C 10: 18,041,275 (GRCm39) E301G probably damaging Het
Elf3 C T 1: 135,184,814 (GRCm39) C124Y probably benign Het
Eno2 A G 6: 124,740,088 (GRCm39) V316A probably damaging Het
Erap1 A G 13: 74,823,426 (GRCm39) E820G possibly damaging Het
Evpl A T 11: 116,125,092 (GRCm39) H123Q probably damaging Het
Fat2 T A 11: 55,200,503 (GRCm39) Y857F possibly damaging Het
Fbrsl1 T A 5: 110,519,491 (GRCm39) probably null Het
Fbxw7 A G 3: 84,881,820 (GRCm39) D432G probably damaging Het
Flt1 A T 5: 147,576,232 (GRCm39) L592Q probably damaging Het
Gm14496 T A 2: 181,642,272 (GRCm39) C648S probably damaging Het
Gm5150 A T 3: 16,045,109 (GRCm39) S39T probably benign Het
Gse1 C A 8: 121,293,219 (GRCm39) P177Q probably damaging Het
Heatr4 G A 12: 84,027,096 (GRCm39) R54W probably damaging Het
Hpgd C A 8: 56,760,677 (GRCm39) Q125K probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Mast2 A T 4: 116,187,671 (GRCm39) probably null Het
Mfsd11 A G 11: 116,752,381 (GRCm39) T177A possibly damaging Het
Mlx T C 11: 100,978,257 (GRCm39) S36P probably benign Het
Mlxipl T A 5: 135,142,492 (GRCm39) V102D probably damaging Het
Mms22l T C 4: 24,536,150 (GRCm39) Y540H probably damaging Het
Muc4 C G 16: 32,574,020 (GRCm39) S699R probably benign Het
Nckap1l T C 15: 103,405,881 (GRCm39) S1106P probably damaging Het
Obscn T C 11: 58,925,008 (GRCm39) E5703G possibly damaging Het
Or2ag1 A G 7: 106,313,405 (GRCm39) M161T probably benign Het
Pabpn1 A G 14: 55,133,115 (GRCm39) K38E probably damaging Het
Padi3 A T 4: 140,526,290 (GRCm39) L141Q probably damaging Het
Pakap G A 4: 57,855,927 (GRCm39) E419K possibly damaging Het
Pde3b A G 7: 114,122,657 (GRCm39) N742D probably benign Het
Pex1 T A 5: 3,674,132 (GRCm39) probably null Het
Pkd2 T C 5: 104,608,077 (GRCm39) V192A probably benign Het
Ppp6r2 T A 15: 89,166,332 (GRCm39) M750K probably benign Het
Prdm15 A T 16: 97,604,980 (GRCm39) Y783* probably null Het
Prox2 T A 12: 85,141,782 (GRCm39) Q140H probably damaging Het
Psg27 A T 7: 18,290,883 (GRCm39) I440K probably damaging Het
Pzp A G 6: 128,496,383 (GRCm39) M283T probably benign Het
Sec23a G A 12: 59,045,067 (GRCm39) Q192* probably null Het
Sh2b1 A G 7: 126,071,862 (GRCm39) S108P possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tkfc G A 19: 10,574,742 (GRCm39) A166V probably damaging Het
Tomm70a T C 16: 56,961,121 (GRCm39) V358A probably damaging Het
Trim47 A G 11: 115,997,239 (GRCm39) F505S probably damaging Het
Tti2 T C 8: 31,641,337 (GRCm39) F154L possibly damaging Het
Ubap2l C T 3: 89,946,271 (GRCm39) G111D possibly damaging Het
Usp9y A T Y: 1,381,277 (GRCm39) I848N possibly damaging Het
Veph1 T C 3: 65,968,523 (GRCm39) Y740C probably damaging Het
Vmn2r114 T A 17: 23,510,083 (GRCm39) H799L possibly damaging Het
Wdr31 T A 4: 62,374,180 (GRCm39) M270L probably benign Het
Zfp26 A G 9: 20,347,913 (GRCm39) S884P probably benign Het
Zswim6 T A 13: 107,909,930 (GRCm39) noncoding transcript Het
Other mutations in Msc
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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'- GTCTGGAGAAGGCTTTGCTC -3'
(R):5'- TACAGGGTCAGCAGCAGATC -3'

Sequencing Primer
(F):5'- AGAAGGCTTTGCTCAGCAC -3'
(R):5'- TCACAGGGGAGCCTCAGTG -3'
Posted On 2014-09-17