Incidental Mutation 'R4401:Gm11937'
ID 326640
Institutional Source Beutler Lab
Gene Symbol Gm11937
Ensembl Gene ENSMUSG00000058725
Gene Name predicted gene 11937
Synonyms
MMRRC Submission 041132-MU
Accession Numbers
Essential gene? Not available question?
Stock # R4401 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 99500620-99501015 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 99500901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 39 (V39M)
Ref Sequence ENSEMBL: ENSMUSP00000075802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074926] [ENSMUST00000076478]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000074926
SMART Domains Protein: ENSMUSP00000074461
Gene: ENSMUSG00000060756

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 56 5.8e-4 PFAM
Pfam:Keratin_B2 1 72 2.6e-12 PFAM
Pfam:Keratin_B2_2 53 101 1.3e-5 PFAM
Pfam:Keratin_B2_2 92 131 6.1e-4 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000076478
AA Change: V39M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075802
Gene: ENSMUSG00000058725
AA Change: V39M

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 56 5.8e-4 PFAM
Pfam:Keratin_B2 1 72 2.6e-12 PFAM
Pfam:Keratin_B2_2 53 101 1.3e-5 PFAM
Pfam:Keratin_B2_2 92 131 6.1e-4 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,752,390 (GRCm39) I454V possibly damaging Het
Acvr2a A G 2: 48,789,714 (GRCm39) T486A probably benign Het
Ap3b1 C A 13: 94,554,607 (GRCm39) L248I probably damaging Het
Atad2b T A 12: 4,990,145 (GRCm39) C157S probably damaging Het
Cage1 T A 13: 38,207,078 (GRCm39) I256F probably damaging Het
Cct2 A G 10: 116,893,714 (GRCm39) I287T possibly damaging Het
Cntn4 A G 6: 106,466,625 (GRCm39) T176A possibly damaging Het
Cracd G A 5: 76,996,763 (GRCm39) V74I probably damaging Het
Cyp2c54 T C 19: 40,060,615 (GRCm39) N122S probably benign Het
Cytip T C 2: 58,023,947 (GRCm39) D291G probably benign Het
Eef1d C T 15: 75,774,769 (GRCm39) V213I probably benign Het
Fnbp4 A G 2: 90,577,102 (GRCm39) T145A possibly damaging Het
Fras1 C A 5: 96,790,479 (GRCm39) T951K probably damaging Het
Gm6712 C T 17: 17,538,366 (GRCm39) noncoding transcript Het
Hira A G 16: 18,744,470 (GRCm39) I352V probably damaging Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Lpcat2 T C 8: 93,599,683 (GRCm39) V217A possibly damaging Het
Mroh2a G T 1: 88,182,657 (GRCm39) R1195L possibly damaging Het
Or2a25 G T 6: 42,889,260 (GRCm39) E268* probably null Het
Or4k35 A G 2: 111,100,178 (GRCm39) F178S probably damaging Het
Or51f5 C T 7: 102,424,006 (GRCm39) R92* probably null Het
Pla2g1b T A 5: 115,608,947 (GRCm39) Y47* probably null Het
Rfng A T 11: 120,673,306 (GRCm39) V245E possibly damaging Het
Rpf2 A G 10: 40,112,124 (GRCm39) V104A possibly damaging Het
Rps6kc1 G T 1: 190,532,155 (GRCm39) H616N probably benign Het
Slc66a1 T C 4: 139,033,854 (GRCm39) I22V probably benign Het
Slc9b2 T C 3: 135,042,305 (GRCm39) V528A probably benign Het
Srgap1 T C 10: 121,640,826 (GRCm39) probably null Het
Trrap A G 5: 144,780,128 (GRCm39) T3240A possibly damaging Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Zfhx4 C A 3: 5,468,405 (GRCm39) Y2854* probably null Het
Zfp986 C T 4: 145,625,513 (GRCm39) R58C probably benign Het
Other mutations in Gm11937
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03273:Gm11937 APN 11 99,500,627 (GRCm39) unclassified probably benign
R1355:Gm11937 UTSW 11 99,500,733 (GRCm39) missense possibly damaging 0.94
R6736:Gm11937 UTSW 11 99,500,900 (GRCm39) missense probably damaging 0.97
R9495:Gm11937 UTSW 11 99,500,646 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TAATGTCAGTTGGCTCAGCAG -3'
(R):5'- GAGGAGACATCACACCTGAG -3'

Sequencing Primer
(F):5'- GCTCAGCAGCAGGTGTTG -3'
(R):5'- GAGGAGACATCACACCTGAGAACTC -3'
Posted On 2015-07-07