Incidental Mutation 'R5283:Gm11595'
ID 402890
Institutional Source Beutler Lab
Gene Symbol Gm11595
Ensembl Gene ENSMUSG00000078668
Gene Name predicted gene 11595
Synonyms
MMRRC Submission 042868-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R5283 (G1)
Quality Score 225
Status Not 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: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp C T 1: 74,323,165 (GRCm39) E53K possibly damaging Het
Amotl1 T C 9: 14,469,780 (GRCm39) E651G probably damaging Het
Ankrd11 A C 8: 123,610,921 (GRCm39) V2655G probably damaging Het
Apbb1ip G A 2: 22,757,683 (GRCm39) V434M probably benign Het
Atp5pd T C 11: 115,306,611 (GRCm39) Y150C probably damaging Het
Ccdc13 T A 9: 121,637,254 (GRCm39) D75V probably damaging Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Crh T C 3: 19,748,171 (GRCm39) H157R probably damaging Het
Cstdc6 T C 16: 36,142,205 (GRCm39) D57G probably damaging Het
Dpp4 G A 2: 62,190,680 (GRCm39) T392I probably damaging Het
Ehd3 G T 17: 74,127,498 (GRCm39) A144S probably benign Het
Fnip2 A T 3: 79,373,015 (GRCm39) I1021N probably damaging Het
Fus T A 7: 127,584,719 (GRCm39) probably benign Het
Glo1 T C 17: 30,819,047 (GRCm39) T92A probably benign Het
Gm15130 A C 2: 110,965,754 (GRCm39) M165R unknown Het
Gon4l T C 3: 88,794,897 (GRCm39) L700P probably damaging Het
Grm1 C A 10: 10,608,936 (GRCm39) D566Y possibly damaging Het
Guca1b T C 17: 47,702,195 (GRCm39) probably benign Het
Has3 A G 8: 107,600,747 (GRCm39) M70V probably damaging Het
Hydin G T 8: 111,178,612 (GRCm39) C1069F possibly damaging Het
Ints1 A C 5: 139,750,137 (GRCm39) L920R probably damaging Het
Kdm2a T C 19: 4,381,297 (GRCm39) I54V probably benign Het
Kpna2 G A 11: 106,881,658 (GRCm39) T324I probably damaging Het
Lrr1 T C 12: 69,221,428 (GRCm39) L190S probably damaging Het
Lrrc49 A T 9: 60,594,461 (GRCm39) H16Q probably benign Het
Mab21l4 C T 1: 93,087,575 (GRCm39) D93N probably benign Het
Mapkap1 A G 2: 34,334,360 (GRCm39) E147G probably damaging Het
Mrpl2 C T 17: 46,959,992 (GRCm39) R219W possibly damaging Het
Muc21 A G 17: 35,932,224 (GRCm39) probably benign Het
Ndc80 A G 17: 71,828,130 (GRCm39) S66P probably benign Het
Notch1 A G 2: 26,358,638 (GRCm39) Y1398H probably damaging Het
Olfml2b C T 1: 170,508,758 (GRCm39) R539* probably null Het
Or6b9 T A 7: 106,555,955 (GRCm39) T63S probably benign Het
Pde7a T C 3: 19,314,420 (GRCm39) T59A probably damaging Het
Plekhg1 G A 10: 3,906,654 (GRCm39) V524I probably benign Het
Plin4 T A 17: 56,413,777 (GRCm39) M283L probably benign Het
Prp2 C T 6: 132,577,606 (GRCm39) P298S unknown Het
Rap1gap2 G A 11: 74,286,651 (GRCm39) R550C probably damaging Het
Reln G A 5: 22,216,161 (GRCm39) T1008I probably damaging Het
Rffl T C 11: 82,703,615 (GRCm39) K103E probably damaging Het
Rmnd5b A T 11: 51,517,887 (GRCm39) F156I probably damaging Het
Rtn4ip1 T C 10: 43,778,461 (GRCm39) I68T probably damaging Het
Samhd1 T C 2: 156,951,412 (GRCm39) I442V possibly damaging Het
Slc12a4 A T 8: 106,677,326 (GRCm39) probably null Het
Slc35b1 G T 11: 95,275,814 (GRCm39) probably benign Het
Ssh1 A G 5: 114,088,606 (GRCm39) V354A probably damaging Het
Stk33 T C 7: 108,935,334 (GRCm39) K153E possibly damaging Het
Stk4 C T 2: 163,952,199 (GRCm39) R19* probably null Het
Tas2r136 A T 6: 132,754,374 (GRCm39) I251N probably damaging Het
Tbr1 A T 2: 61,635,244 (GRCm39) T65S probably benign Het
Tkt C T 14: 30,282,575 (GRCm39) S124F probably damaging Het
Tll1 T C 8: 64,555,000 (GRCm39) I228V possibly damaging Het
Tmem236 A G 2: 14,179,644 (GRCm39) I82V probably benign Het
Vmn2r110 T C 17: 20,800,899 (GRCm39) Q511R probably benign Het
Vmn2r98 T C 17: 19,300,981 (GRCm39) M661T probably benign Het
Vps13a T A 19: 16,655,334 (GRCm39) K1898I probably damaging Het
Zc3h12a T C 4: 125,020,558 (GRCm39) E95G 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
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
R6282: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 2016-07-22