Incidental Mutation 'R4409:Msc'
ID 327781
Institutional Source Beutler Lab
Gene Symbol Msc
Ensembl Gene ENSMUSG00000025930
Gene Name musculin
Synonyms MyoR, bHLHa22
MMRRC Submission 041691-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.235) question?
Stock # R4409 (G1)
Quality Score 225
Status Not validated
Chromosome 1
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

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A T 4: 144,447,872 (GRCm39) S35T possibly damaging Het
Abcb5 A C 12: 118,836,657 (GRCm39) L1085V probably damaging Het
Adgrf5 T C 17: 43,752,738 (GRCm39) V560A probably damaging Het
Ambp C A 4: 63,070,884 (GRCm39) S65I probably damaging Het
Ash1l A G 3: 88,914,506 (GRCm39) D1712G probably damaging Het
Capn7 T C 14: 31,077,296 (GRCm39) L338P probably damaging Het
Car2 T A 3: 14,960,162 (GRCm39) S105T probably damaging Het
Casr A G 16: 36,320,703 (GRCm39) C482R probably benign Het
Ccdc18 C T 5: 108,368,708 (GRCm39) Q1277* probably null Het
Clca3a1 A G 3: 144,711,788 (GRCm39) F736L probably damaging Het
Col6a1 T C 10: 76,557,334 (GRCm39) H206R probably benign Het
Crybg1 C T 10: 43,874,754 (GRCm39) A785T possibly damaging Het
Cyp2c68 T A 19: 39,727,896 (GRCm39) E85D probably damaging Het
Dnah9 T C 11: 65,976,303 (GRCm39) S1249G possibly damaging Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Fbxw24 A T 9: 109,437,256 (GRCm39) D210E probably damaging Het
Fcgr1 T C 3: 96,191,893 (GRCm39) Y305C probably benign Het
Gm10226 G T 17: 21,910,876 (GRCm39) C37F possibly damaging Het
Greb1l A G 18: 10,503,182 (GRCm39) Y411C possibly damaging Het
Grin1 T C 2: 25,200,451 (GRCm39) N224D possibly damaging Het
H2-T5 T A 17: 36,476,742 (GRCm39) H244L possibly damaging Het
Ighmbp2 C T 19: 3,321,536 (GRCm39) V408I probably benign Het
Il1rap G A 16: 26,531,015 (GRCm39) probably null Het
Iqcg A G 16: 32,865,888 (GRCm39) probably null Het
Klhdc3 C T 17: 46,987,944 (GRCm39) G249E probably damaging Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Macrod2 T G 2: 140,260,777 (GRCm39) H68Q possibly damaging Het
Morn4 T C 19: 42,066,986 (GRCm39) T2A possibly damaging Het
Msh5 T C 17: 35,258,226 (GRCm39) D300G probably damaging Het
Myo10 A G 15: 25,807,955 (GRCm39) Y1859C probably damaging Het
Nacc1 A G 8: 85,399,673 (GRCm39) *515Q probably null Het
Or1ad6 T A 11: 50,860,223 (GRCm39) I126N probably damaging Het
Or4n5 T A 14: 50,133,230 (GRCm39) T10S probably benign Het
Or5g29 T C 2: 85,421,274 (GRCm39) L130S probably damaging Het
Oxgr1 C T 14: 120,259,572 (GRCm39) V212M possibly damaging Het
P3h2 G C 16: 25,924,040 (GRCm39) R132G possibly damaging Het
Pcdha9 T A 18: 37,132,198 (GRCm39) H422Q probably benign Het
Pcdhga12 A G 18: 37,901,138 (GRCm39) T657A probably damaging Het
Pcx A G 19: 4,660,031 (GRCm39) K442R possibly damaging Het
Pkd2 T C 5: 104,614,750 (GRCm39) silent Het
Plg T G 17: 12,609,150 (GRCm39) C152G probably damaging Het
Plk4 A G 3: 40,760,984 (GRCm39) E438G probably damaging Het
Ryr3 A G 2: 112,560,653 (GRCm39) L3016P probably damaging Het
Sdccag8 T G 1: 176,695,932 (GRCm39) probably null Het
Slc24a1 A T 9: 64,855,506 (GRCm39) M467K probably benign Het
Sorl1 T G 9: 41,946,744 (GRCm39) I856L probably damaging Het
Spag7 T C 11: 70,555,688 (GRCm39) D83G probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmprss11b T C 5: 86,812,137 (GRCm39) N170S probably benign Het
Tnfrsf1b G A 4: 144,950,855 (GRCm39) Q253* probably null Het
Trim12a G A 7: 103,956,201 (GRCm39) A113V probably benign Het
Ttn A G 2: 76,727,987 (GRCm39) probably benign Het
Vmn1r213 A C 13: 23,195,593 (GRCm39) probably benign Het
Vmn1r54 C A 6: 90,246,864 (GRCm39) Y259* probably null Het
Vmn1r55 A G 7: 5,150,075 (GRCm39) V116A probably benign Het
Vmn2r120 T C 17: 57,816,477 (GRCm39) N626S probably damaging Het
Vmn2r58 A G 7: 41,522,051 (GRCm39) F15S possibly damaging Het
Vmn2r73 A T 7: 85,520,768 (GRCm39) V400E probably damaging Het
Zbtb39 A G 10: 127,578,696 (GRCm39) I423M possibly damaging Het
Zfp352 A G 4: 90,113,401 (GRCm39) N514D probably benign Het
Zfp451 A T 1: 33,816,494 (GRCm39) H485Q 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
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'- AGTCTGGAGAAGGCTTTGC -3'
(R):5'- TACAGGGTCAGCAGCAGATC -3'

Sequencing Primer
(F):5'- AGAAGGCTTTGCTCAGCAC -3'
(R):5'- AAGCCCTGGTCTCTGGTC -3'
Posted On 2015-07-07