Incidental Mutation 'IGL01975:Gm10272'
ID182623
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm10272
Ensembl Gene ENSMUSG00000069584
Gene Namepredicted gene 10272
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #IGL01975
Quality Score
Status
Chromosome10
Chromosomal Location77706626-77706975 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 77706774 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 50 (C50Y)
Ref Sequence ENSEMBL: ENSMUSP00000090025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075421] [ENSMUST00000092366] [ENSMUST00000092371]
Predicted Effect probably benign
Transcript: ENSMUST00000075421
SMART Domains Protein: ENSMUSP00000074876
Gene: ENSMUSG00000094012

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 53 2.6e-8 PFAM
Pfam:Keratin_B2_2 29 74 9.2e-10 PFAM
low complexity region 92 105 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092366
SMART Domains Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581

DomainStartEndE-ValueType
Blast:TSPN 1 71 8e-40 BLAST
SCOP:d1c4ra_ 2 67 2e-7 SMART
low complexity region 190 200 N/A INTRINSIC
Pfam:EPTP 208 255 2.6e-22 PFAM
Pfam:EPTP 260 307 1.4e-21 PFAM
Pfam:EPTP 312 359 8.9e-14 PFAM
Pfam:EPTP 362 417 6.2e-13 PFAM
Pfam:EPTP 422 469 1.3e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000092371
AA Change: C50Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000090025
Gene: ENSMUSG00000069584
AA Change: C50Y

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 53 1.8e-7 PFAM
Pfam:Keratin_B2_2 40 83 3.7e-7 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 C T 5: 8,167,396 C133Y probably damaging Het
Akap3 G T 6: 126,874,000 S827I probably damaging Het
Arhgap20 C T 9: 51,849,797 Q947* probably null Het
Csf2rb2 A G 15: 78,288,886 I258T probably benign Het
Egln2 T C 7: 27,160,320 I323V possibly damaging Het
Erlin1 C A 19: 44,036,931 G348V probably damaging Het
Fbxo38 C T 18: 62,515,413 A685T probably damaging Het
Gm11559 G T 11: 99,864,856 Q110H unknown Het
Gpr75 T C 11: 30,891,835 S247P probably benign Het
Grid1 A T 14: 35,323,426 M409L probably benign Het
Herc3 A C 6: 58,916,576 D941A possibly damaging Het
Ilf3 T A 9: 21,392,379 S166T probably benign Het
Kcnu1 A C 8: 25,934,497 E273D probably benign Het
Kdm8 A G 7: 125,452,357 S41G probably benign Het
Ldlr G A 9: 21,733,697 V174I probably benign Het
Lpar5 T C 6: 125,081,787 L157P probably damaging Het
Mcrs1 A G 15: 99,243,678 probably null Het
Ndst3 T A 3: 123,601,514 Y489F possibly damaging Het
Olfr822 A G 10: 130,075,270 I287V probably damaging Het
Palmd A T 3: 116,923,634 S405T probably benign Het
Ptger1 T C 8: 83,669,520 probably benign Het
Rbp3 A T 14: 33,958,645 K1068M probably damaging Het
Rimbp2 T C 5: 128,797,648 D293G probably benign Het
Rnf20 T A 4: 49,654,473 D843E probably benign Het
Rxfp1 A G 3: 79,660,078 S322P possibly damaging Het
Slc22a8 T A 19: 8,605,411 I152N probably damaging Het
Slc6a21 T A 7: 45,287,851 D268E probably benign Het
Sstr1 A G 12: 58,213,626 N345S probably benign Het
Stx17 T C 4: 48,180,670 S172P probably damaging Het
Syne1 A G 10: 5,068,908 probably benign Het
Tpte A G 8: 22,349,337 T467A probably damaging Het
Trappc12 A G 12: 28,692,492 probably null Het
Trav13-2 A T 14: 53,635,366 T100S possibly damaging Het
Trip12 A G 1: 84,814,813 probably benign Het
Wdr36 A G 18: 32,852,488 H486R probably damaging Het
Zswim5 T C 4: 116,965,692 I453T probably benign Het
Other mutations in Gm10272
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03176:Gm10272 APN 10 77706633 missense probably null
R0635:Gm10272 UTSW 10 77706701 intron probably benign
R4209:Gm10272 UTSW 10 77706831 missense possibly damaging 0.95
R7540:Gm10272 UTSW 10 77706626 start codon destroyed unknown
R7887:Gm10272 UTSW 10 77706945 missense probably benign 0.06
Posted On2014-05-07