Incidental Mutation 'R8911:Gm11595'
ID 678640
Institutional Source Beutler Lab
Gene Symbol Gm11595
Ensembl Gene ENSMUSG00000078668
Gene Name predicted gene 11595
Synonyms
MMRRC Submission 068764-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R8911 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 99662540-99663739 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99663564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 39 (C39R)
Ref Sequence ENSEMBL: ENSMUSP00000103064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107440]
AlphaFold B1AQA7
Predicted Effect unknown
Transcript: ENSMUST00000107440
AA Change: C39R
SMART Domains Protein: ENSMUSP00000103064
Gene: ENSMUSG00000078668
AA Change: C39R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (76/76)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,429,234 (GRCm39) I774F probably benign Het
3425401B19Rik A T 14: 32,383,626 (GRCm39) C780S possibly damaging Het
Abca12 T C 1: 71,380,690 (GRCm39) D306G probably benign Het
Adgrl2 T C 3: 148,558,163 (GRCm39) probably benign Het
Agt T C 8: 125,291,184 (GRCm39) Y41C probably benign Het
Alx3 G T 3: 107,511,603 (GRCm39) R204L probably damaging Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Bcl11a C T 11: 24,114,763 (GRCm39) P702L probably damaging Het
Bpifa2 A G 2: 153,851,090 (GRCm39) N17S probably benign Het
Cabcoco1 T C 10: 68,377,584 (GRCm39) D35G probably benign Het
Cd69 T C 6: 129,252,187 (GRCm39) K21R probably benign Het
Cdhr18 T C 14: 13,823,796 (GRCm38) probably null Het
Cntn4 T C 6: 106,330,743 (GRCm39) probably null Het
Cntnap5c A C 17: 58,506,043 (GRCm39) N689T probably damaging Het
Cog5 A G 12: 31,883,238 (GRCm39) Y389C probably damaging Het
Col5a1 T C 2: 27,887,630 (GRCm39) probably null Het
Coro1b G A 19: 4,200,803 (GRCm39) R245Q probably damaging Het
Csmd1 T C 8: 16,748,019 (GRCm39) D244G probably damaging Het
Ctcfl C T 2: 172,937,121 (GRCm39) probably null Het
Dpy19l4 G A 4: 11,317,078 (GRCm39) P40L possibly damaging Het
Dsg4 C A 18: 20,584,929 (GRCm39) Y214* probably null Het
Eapp A T 12: 54,739,440 (GRCm39) probably benign Het
Fmo6 T C 1: 162,748,114 (GRCm39) T317A possibly damaging Het
Golim4 T C 3: 75,813,703 (GRCm39) probably benign Het
Greb1 G A 12: 16,740,903 (GRCm39) S1393L possibly damaging Het
Guca1b A G 17: 47,700,044 (GRCm39) I73V probably benign Het
Hdac7 C T 15: 97,694,789 (GRCm39) V796I possibly damaging Het
Hectd1 A G 12: 51,795,616 (GRCm39) I2271T probably damaging Het
Heg1 T G 16: 33,558,627 (GRCm39) Y1066* probably null Het
Helz2 C A 2: 180,880,173 (GRCm39) K514N Het
Ice1 C T 13: 70,740,787 (GRCm39) R70Q Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Itgae A G 11: 73,004,447 (GRCm39) T245A probably damaging Het
Jhy G A 9: 40,822,453 (GRCm39) Q562* probably null Het
Khnyn A G 14: 56,124,735 (GRCm39) R330G probably benign Het
Lamc2 A T 1: 153,027,873 (GRCm39) C184S probably damaging Het
Lhx5 T A 5: 120,574,509 (GRCm39) L271* probably null Het
Magel2 G A 7: 62,029,537 (GRCm39) V814M unknown Het
Manf A G 9: 106,767,461 (GRCm39) I85T possibly damaging Het
Mgmt A G 7: 136,729,794 (GRCm39) T203A probably benign Het
Mmp9 C T 2: 164,794,568 (GRCm39) S520F possibly damaging Het
Myrip A G 9: 120,270,484 (GRCm39) E578G possibly damaging Het
Naaladl2 A G 3: 23,900,757 (GRCm39) M691T probably damaging Het
Ncln C T 10: 81,323,519 (GRCm39) V51I probably benign Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Or4c112 T C 2: 88,854,294 (GRCm39) N18D probably benign Het
Or4c117 T C 2: 88,955,608 (GRCm39) I156V probably benign Het
Pcdhga12 A T 18: 37,900,118 (GRCm39) M317L possibly damaging Het
Pcnt T G 10: 76,223,359 (GRCm39) K1941T probably damaging Het
Pde4dip A T 3: 97,650,917 (GRCm39) M896K probably benign Het
Pfkfb3 A T 2: 11,487,254 (GRCm39) probably null Het
Pik3cb A G 9: 98,946,201 (GRCm39) S542P probably benign Het
Pik3cg A G 12: 32,247,257 (GRCm39) V822A probably benign Het
Plcl2 G T 17: 50,915,141 (GRCm39) G717C probably damaging Het
Ptprs C T 17: 56,730,320 (GRCm39) A1185T probably benign Het
Ptpru T A 4: 131,503,560 (GRCm39) I1157F probably damaging Het
Rbbp6 A G 7: 122,591,268 (GRCm39) T457A possibly damaging Het
Rdh16f2 A G 10: 127,712,812 (GRCm39) E270G probably damaging Het
Rrp15 C T 1: 186,453,641 (GRCm39) E269K unknown Het
Sec23b T C 2: 144,401,316 (GRCm39) V59A probably benign Het
Slc22a21 A T 11: 53,846,809 (GRCm39) probably null Het
Sp5 C A 2: 70,306,962 (GRCm39) P216T probably benign Het
Synj1 A T 16: 90,775,622 (GRCm39) D385E probably damaging Het
Trim37 C T 11: 87,097,629 (GRCm39) S808F possibly damaging Het
Tsks A T 7: 44,592,694 (GRCm39) probably benign Het
Upf1 A T 8: 70,791,087 (GRCm39) S563T possibly damaging Het
Upf2 A G 2: 5,987,893 (GRCm39) D580G unknown Het
Usp14 A G 18: 9,996,194 (GRCm39) I462T probably damaging Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Vmn1r184 C G 7: 25,966,310 (GRCm39) Q19E possibly damaging Het
Vps50 C A 6: 3,516,710 (GRCm39) A64E probably benign Het
Zc3h11a T A 1: 133,566,339 (GRCm39) N211I probably damaging Het
Zfp518a A C 19: 40,901,870 (GRCm39) K600Q possibly damaging Het
Zfp729a A T 13: 67,768,061 (GRCm39) S723T probably benign Het
Zmynd12 A T 4: 119,294,286 (GRCm39) I88F probably damaging 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
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
R9632:Gm11595 UTSW 11 99,663,097 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACAGCAGCTAGAAATGCAGC -3'
(R):5'- ATGCTGCATGTGAGGACAGC -3'

Sequencing Primer
(F):5'- TGCAGCAAGAAGGCCTGC -3'
(R):5'- GGCAGGGAGACTCTCACTTC -3'
Posted On 2021-08-02