Incidental Mutation 'IGL02228:Gm13119'
ID 285381
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm13119
Ensembl Gene ENSMUSG00000070619
Gene Name predicted gene 13119
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02228
Quality Score
Status
Chromosome 4
Chromosomal Location 144357942-144364419 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 144362661 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 183 (K183R)
Ref Sequence ENSEMBL: ENSMUSP00000092103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094526]
AlphaFold B1ARV5
Predicted Effect probably damaging
Transcript: ENSMUST00000094526
AA Change: K183R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092103
Gene: ENSMUSG00000070619
AA Change: K183R

DomainStartEndE-ValueType
SCOP:d1a4ya_ 210 414 3e-10 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot1 T C 12: 84,016,964 V282A probably benign Het
Acsm5 A G 7: 119,531,866 D169G probably damaging Het
Adam8 C T 7: 139,988,806 probably null Het
Agpat1 T C 17: 34,610,562 F37L possibly damaging Het
Asah2 A T 19: 32,016,714 D410E probably benign Het
Atg2a T A 19: 6,246,800 V378D probably benign Het
Atp1a4 T C 1: 172,254,885 Y130C possibly damaging Het
B020004J07Rik T C 4: 101,836,858 Y276C probably benign Het
Bnc2 T C 4: 84,293,076 H419R possibly damaging Het
Capza3 A G 6: 140,041,915 D80G probably benign Het
Col6a4 C T 9: 106,068,078 D946N probably benign Het
Crat T C 2: 30,413,182 H31R probably damaging Het
Dsc2 A G 18: 20,043,733 V419A probably damaging Het
Ebf1 T C 11: 44,972,912 V363A probably damaging Het
Lcp2 T C 11: 34,047,424 F24S probably damaging Het
Lgmn G A 12: 102,395,714 T376I probably benign Het
Lrrc8d C T 5: 105,811,864 L47F probably benign Het
Mier1 T A 4: 103,131,062 M44K possibly damaging Het
Ogfod1 C A 8: 94,062,987 Q439K probably benign Het
Olfr303 A C 7: 86,395,078 I140S possibly damaging Het
Pcgf6 A C 19: 47,047,982 F216C probably damaging Het
Pcnt C T 10: 76,389,474 R1732K probably benign Het
Rbbp4 A T 4: 129,317,750 H370Q probably damaging Het
Reln A G 5: 21,904,731 V3127A probably damaging Het
Rttn T A 18: 89,042,231 V1019E probably damaging Het
Serpina9 C T 12: 104,008,600 R98Q probably benign Het
Slc16a7 C A 10: 125,230,798 G324V probably damaging Het
Slc22a3 A G 17: 12,459,810 L209P probably damaging Het
Tet1 T A 10: 62,813,734 T1695S probably damaging Het
Tulp3 G A 6: 128,334,485 T74M probably damaging Het
Ube3a A G 7: 59,288,396 probably benign Het
Ufl1 A T 4: 25,281,686 S23T probably benign Het
Unc80 A G 1: 66,608,428 E1509G possibly damaging Het
Wnk2 A T 13: 49,056,940 I1801N probably damaging Het
Other mutations in Gm13119
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Gm13119 APN 4 144362530 missense possibly damaging 0.91
IGL00485:Gm13119 APN 4 144363442 missense probably damaging 0.99
IGL01025:Gm13119 APN 4 144363377 missense probably damaging 1.00
IGL01102:Gm13119 APN 4 144363625 missense probably benign 0.08
IGL01631:Gm13119 APN 4 144362445 missense probably benign 0.12
IGL02708:Gm13119 APN 4 144363413 missense probably damaging 1.00
IGL02827:Gm13119 APN 4 144363761 missense probably damaging 1.00
IGL03398:Gm13119 APN 4 144363491 missense probably damaging 1.00
R0403:Gm13119 UTSW 4 144362646 missense probably benign 0.00
R0627:Gm13119 UTSW 4 144362846 missense probably benign 0.03
R0632:Gm13119 UTSW 4 144363782 missense probably damaging 1.00
R1783:Gm13119 UTSW 4 144361725 missense probably benign 0.01
R1895:Gm13119 UTSW 4 144361865 missense probably benign 0.11
R1946:Gm13119 UTSW 4 144361865 missense probably benign 0.11
R2263:Gm13119 UTSW 4 144363541 missense probably benign 0.00
R2389:Gm13119 UTSW 4 144363413 missense probably damaging 1.00
R2435:Gm13119 UTSW 4 144362903 missense possibly damaging 0.75
R3013:Gm13119 UTSW 4 144362455 missense probably damaging 0.98
R3021:Gm13119 UTSW 4 144361799 missense probably damaging 0.99
R3106:Gm13119 UTSW 4 144361676 missense probably benign 0.04
R5237:Gm13119 UTSW 4 144362471 nonsense probably null
R5411:Gm13119 UTSW 4 144361637 start codon destroyed probably null 1.00
R5532:Gm13119 UTSW 4 144363491 missense probably damaging 1.00
R6229:Gm13119 UTSW 4 144363629 missense probably benign 0.03
R6277:Gm13119 UTSW 4 144363653 missense probably damaging 1.00
R6625:Gm13119 UTSW 4 144363799 missense probably damaging 1.00
R6717:Gm13119 UTSW 4 144362657 missense probably benign 0.00
R7103:Gm13119 UTSW 4 144363727 missense probably benign 0.00
R7207:Gm13119 UTSW 4 144361903 missense probably benign 0.08
R8934:Gm13119 UTSW 4 144363775 missense possibly damaging 0.54
R9325:Gm13119 UTSW 4 144362523 missense probably benign
R9411:Gm13119 UTSW 4 144363427 missense probably benign 0.00
Z1177:Gm13119 UTSW 4 144362973 missense possibly damaging 0.89
Posted On 2015-04-16