Incidental Mutation 'R6282:Gm11595'
ID 508009
Institutional Source Beutler Lab
Gene Symbol Gm11595
Ensembl Gene ENSMUSG00000078668
Gene Name predicted gene 11595
Synonyms
MMRRC Submission 044452-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R6282 (G1)
Quality Score 221.009
Status Validated
Chromosome 11
Chromosomal Location 99662540-99663739 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 99663381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 100 (R100C)
Ref Sequence ENSEMBL: ENSMUSP00000103064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107440]
AlphaFold B1AQA7
Predicted Effect unknown
Transcript: ENSMUST00000107440
AA Change: R100C
SMART Domains Protein: ENSMUSP00000103064
Gene: ENSMUSG00000078668
AA Change: R100C

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 47 7.5e-9 PFAM
Pfam:Keratin_B2_2 14 58 2.8e-13 PFAM
Pfam:Keratin_B2_2 29 73 1.2e-13 PFAM
Pfam:Keratin_B2_2 72 112 2.3e-12 PFAM
Pfam:Keratin_B2_2 107 152 4.6e-14 PFAM
Pfam:Keratin_B2_2 118 162 1.1e-13 PFAM
Pfam:Keratin_B2_2 143 187 3.5e-10 PFAM
Pfam:Keratin_B2_2 168 212 5.6e-13 PFAM
Pfam:Keratin_B2_2 178 222 2.4e-12 PFAM
Pfam:Keratin_B2_2 208 257 1.6e-11 PFAM
Pfam:Keratin_B2_2 223 267 4e-14 PFAM
Pfam:Keratin_B2_2 248 289 9e-9 PFAM
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 98% (45/46)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,690,781 (GRCm39) L185Q possibly damaging Het
Abca6 A T 11: 110,099,650 (GRCm39) C966S probably damaging Het
Atp13a4 A T 16: 29,252,822 (GRCm39) I708N probably benign Het
Axin1 C G 17: 26,362,011 (GRCm39) D118E probably damaging Het
Bace2 A T 16: 97,216,297 (GRCm39) I297F probably damaging Het
Ccdc30 T A 4: 119,181,214 (GRCm39) D649V probably damaging Het
Cd180 G A 13: 102,830,265 (GRCm39) A20T possibly damaging Het
Cdk18 T C 1: 132,047,758 (GRCm39) D112G probably damaging Het
Cuedc1 A G 11: 88,074,228 (GRCm39) N254S probably damaging Het
Dnah7a T C 1: 53,542,760 (GRCm39) H2470R probably damaging Het
Drap1 G A 19: 5,474,464 (GRCm39) probably null Het
Fbxo5 T A 10: 5,751,216 (GRCm39) K257M probably damaging Het
Gm12790 A G 4: 101,824,713 (GRCm39) V185A possibly damaging Het
Gm7361 A G 5: 26,465,411 (GRCm39) N136S probably benign Het
Il10ra C A 9: 45,171,703 (GRCm39) C255F probably damaging Het
Insyn2b A G 11: 34,352,819 (GRCm39) D287G possibly damaging Het
Itgam A T 7: 127,684,114 (GRCm39) T340S probably benign Het
Ktn1 A T 14: 47,901,428 (GRCm39) N62I probably damaging Het
Ldb2 A G 5: 44,690,007 (GRCm39) L204P probably damaging Het
Map2k4 T C 11: 65,597,842 (GRCm39) T90A possibly damaging Het
Mettl3 A T 14: 52,535,428 (GRCm39) D287E probably benign Het
Mier2 A G 10: 79,380,576 (GRCm39) F278S probably damaging Het
Mis18bp1 A G 12: 65,195,937 (GRCm39) M609T probably benign Het
Myo1d A T 11: 80,448,338 (GRCm39) V929D probably damaging Het
Naprt A T 15: 75,763,828 (GRCm39) M364K probably benign Het
Nod2 T A 8: 89,397,088 (GRCm39) C833S probably benign Het
Nrip3 C T 7: 109,362,686 (GRCm39) probably null Het
Ntsr2 A G 12: 16,708,426 (GRCm39) Y320C probably damaging Het
Or14j8 G A 17: 38,263,315 (GRCm39) S200F possibly damaging Het
Or4p7 C A 2: 88,221,877 (GRCm39) C95* probably null Het
Or51h1 G A 7: 102,308,854 (GRCm39) M275I probably benign Het
Osbpl3 A T 6: 50,325,063 (GRCm39) probably null Het
Pcdhb3 C T 18: 37,434,699 (GRCm39) R222C probably damaging Het
Pik3cd G T 4: 149,744,200 (GRCm39) R184S probably benign Het
Pramel32 T C 4: 88,548,291 (GRCm39) E38G probably damaging Het
Rad50 A T 11: 53,560,597 (GRCm39) probably null Het
Rad51ap2 A T 12: 11,507,560 (GRCm39) H494L probably benign Het
Rbm25 T C 12: 83,722,863 (GRCm39) M762T probably damaging Het
Sars1 G T 3: 108,335,590 (GRCm39) S338* probably null Het
Usp35 T C 7: 96,975,155 (GRCm39) E6G probably damaging Het
Vash2 T C 1: 190,692,422 (GRCm39) Y251C probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wdr20 T A 12: 110,763,443 (GRCm39) probably benign Het
Wfdc1 G A 8: 120,406,146 (GRCm39) C87Y probably damaging Het
Zfp985 T A 4: 147,667,805 (GRCm39) H224Q probably benign Het
Other mutations in Gm11595
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Gm11595 APN 11 99,662,868 (GRCm39) missense unknown
IGL00987:Gm11595 APN 11 99,663,365 (GRCm39) missense unknown
IGL01662:Gm11595 APN 11 99,663,498 (GRCm39) missense unknown
IGL01994:Gm11595 APN 11 99,663,027 (GRCm39) missense unknown
R0548:Gm11595 UTSW 11 99,662,967 (GRCm39) missense unknown
R1923:Gm11595 UTSW 11 99,663,365 (GRCm39) missense unknown
R2127:Gm11595 UTSW 11 99,663,327 (GRCm39) missense unknown
R2128:Gm11595 UTSW 11 99,663,327 (GRCm39) missense unknown
R3807:Gm11595 UTSW 11 99,663,380 (GRCm39) missense unknown
R4007:Gm11595 UTSW 11 99,662,861 (GRCm39) missense unknown
R5281:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R5283:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R5303:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R5305:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R5306:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R5307:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R5308:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R5561:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R5637:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R5639:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R5718:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R5719:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R5720:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R5721:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R5769:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R5770:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R5771:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R5791:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R5841:Gm11595 UTSW 11 99,663,143 (GRCm39) missense unknown
R6054:Gm11595 UTSW 11 99,663,474 (GRCm39) missense unknown
R6277:Gm11595 UTSW 11 99,663,510 (GRCm39) missense unknown
R6281:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R6310:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R6321:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R6322:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R6327:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R6337:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R6368:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R6369:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R6431:Gm11595 UTSW 11 99,663,600 (GRCm39) missense unknown
R6483:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R6485:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R6493:Gm11595 UTSW 11 99,663,381 (GRCm39) missense unknown
R6758:Gm11595 UTSW 11 99,663,367 (GRCm39) nonsense probably null
R6758:Gm11595 UTSW 11 99,663,366 (GRCm39) missense unknown
R7037:Gm11595 UTSW 11 99,663,474 (GRCm39) missense unknown
R8053:Gm11595 UTSW 11 99,662,954 (GRCm39) missense unknown
R8911:Gm11595 UTSW 11 99,663,564 (GRCm39) missense unknown
R9632:Gm11595 UTSW 11 99,663,097 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TAGAACTACCACAGCAGGGG -3'
(R):5'- ACCATGGTCAGTTCCTGTTGTG -3'

Sequencing Primer
(F):5'- CGACAGCAGCTGGAGATG -3'
(R):5'- TGCCAGACCACCTGCTGTAG -3'
Posted On 2018-03-15