Incidental Mutation 'R4470:Msc'
ID 329349
Institutional Source Beutler Lab
Gene Symbol Msc
Ensembl Gene ENSMUSG00000025930
Gene Name musculin
Synonyms MyoR, bHLHa22
MMRRC Submission 041727-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.235) question?
Stock # R4470 (G1)
Quality Score 161
Status 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: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 100% (56/56)
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
Adamts1 A C 16: 85,595,404 (GRCm39) V258G possibly damaging Het
Adcy1 A G 11: 7,094,804 (GRCm39) T577A probably benign Het
Adgb T C 10: 10,274,695 (GRCm39) N728S probably benign Het
Alpk1 A G 3: 127,473,175 (GRCm39) S943P probably damaging Het
Ankdd1a T C 9: 65,410,791 (GRCm39) D398G probably damaging Het
Asah1 A G 8: 41,796,761 (GRCm39) probably null Het
Atp13a1 T C 8: 70,251,329 (GRCm39) S495P probably damaging Het
Camta2 T C 11: 70,571,766 (GRCm39) D510G probably damaging Het
Cdh8 T A 8: 100,143,321 (GRCm39) probably benign Het
Cul9 C T 17: 46,849,262 (GRCm39) A628T probably benign Het
Ddx19a A G 8: 111,703,111 (GRCm39) V442A probably benign Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dnah7c T A 1: 46,787,795 (GRCm39) S3283T possibly damaging Het
Fmo9 T A 1: 166,507,799 (GRCm39) I19F probably damaging Het
Gmeb2 A T 2: 180,906,938 (GRCm39) probably null Het
H2-K2 G A 17: 34,219,035 (GRCm39) R23C probably benign Het
Icam5 T A 9: 20,946,802 (GRCm39) C443* probably null Het
Il16 A G 7: 83,300,046 (GRCm39) probably benign Het
Kcnj3 A T 2: 55,327,877 (GRCm39) H222L probably damaging Het
Lama4 T A 10: 38,956,492 (GRCm39) Y1138* probably null Het
Lpin3 A G 2: 160,737,354 (GRCm39) T134A probably benign Het
Man1b1 C G 2: 25,222,867 (GRCm39) probably benign Het
Mylk A G 16: 34,732,522 (GRCm39) K601E probably benign Het
Myzap A G 9: 71,499,563 (GRCm39) probably benign Het
Ncor2 A T 5: 125,179,705 (GRCm39) probably null Het
Nrxn3 T C 12: 90,171,515 (GRCm39) S276P probably damaging Het
Or1j16 T C 2: 36,530,233 (GRCm39) F61L probably damaging Het
Or4c114 T C 2: 88,905,382 (GRCm39) N18D probably benign Het
Or4d6 T C 19: 12,086,547 (GRCm39) probably null Het
Or51b4 G A 7: 103,530,956 (GRCm39) P165S probably benign Het
Or6c202 G A 10: 128,996,383 (GRCm39) L157F probably benign Het
Or8c13 A G 9: 38,091,666 (GRCm39) M151T probably damaging Het
Or8d1 T C 9: 38,766,927 (GRCm39) S190P probably damaging Het
Pramel5 T C 4: 143,997,915 (GRCm39) K443E possibly damaging Het
Rock2 C T 12: 17,021,276 (GRCm39) Q1019* probably null Het
Rps18-ps3 T A 8: 107,989,762 (GRCm39) noncoding transcript Het
Sis T C 3: 72,835,492 (GRCm39) probably null Het
Slc22a21 T A 11: 53,846,839 (GRCm39) I345F probably benign Het
Sox5 A G 6: 143,790,491 (GRCm39) M523T possibly damaging Het
Taf1c T C 8: 120,326,361 (GRCm39) K526R probably benign Het
Taf2 T C 15: 54,922,276 (GRCm39) D337G possibly damaging Het
Tbx4 A G 11: 85,802,948 (GRCm39) I275V probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmem9 A G 1: 135,955,234 (GRCm39) T123A probably benign Het
Trim69 A G 2: 122,009,080 (GRCm39) Y380C probably damaging Het
Vldlr G T 19: 27,212,219 (GRCm39) V78L probably damaging Het
Vmn1r68 A T 7: 10,261,275 (GRCm39) N274K probably benign Het
Vmn2r104 G T 17: 20,262,503 (GRCm39) S209Y probably damaging Het
Vmn2r108 T A 17: 20,682,990 (GRCm39) N738I probably damaging Het
Wnt3 A G 11: 103,703,450 (GRCm39) D311G probably damaging Het
Yme1l1 T C 2: 23,076,344 (GRCm39) probably null Het
Zcchc14 C T 8: 122,378,498 (GRCm39) probably benign Het
Zfp148 T C 16: 33,316,602 (GRCm39) Y383H probably damaging Het
Zfp41 A G 15: 75,490,368 (GRCm39) R107G 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
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 2015-07-21