Incidental Mutation 'IGL01155:Gm1043'
ID 51219
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm1043
Ensembl Gene ENSMUSG00000070823
Gene Name predicted gene 1043
Synonyms LOC381634
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL01155
Quality Score
Status
Chromosome 5
Chromosomal Location 37185897-37193023 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37187089 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 182 (L182P)
Ref Sequence ENSEMBL: ENSMUSP00000147140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000207866] [ENSMUST00000208827] [ENSMUST00000232332]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000094840
SMART Domains Protein: ENSMUSP00000092436
Gene: ENSMUSG00000070823

DomainStartEndE-ValueType
Pfam:DUF4527 3 135 4.5e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202110
Predicted Effect unknown
Transcript: ENSMUST00000207619
AA Change: L165P
Predicted Effect probably damaging
Transcript: ENSMUST00000207866
AA Change: L1291P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000208827
AA Change: L182P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000232332
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 (GRCm38) V124I probably damaging Het
Adgrl3 T A 5: 81,560,893 (GRCm38) I409N probably benign Het
Akap13 A G 7: 75,569,936 (GRCm38) D29G probably damaging Het
Ap4e1 C A 2: 127,043,445 (GRCm38) T322K probably damaging Het
Arfgef1 G A 1: 10,198,982 (GRCm38) probably benign Het
Asic5 A G 3: 82,008,588 (GRCm38) T282A probably benign Het
Bptf T C 11: 107,080,727 (GRCm38) T985A probably damaging Het
Btnl9 A G 11: 49,175,691 (GRCm38) F349L probably damaging Het
Bves T A 10: 45,353,859 (GRCm38) I253K probably damaging Het
Cars T A 7: 143,569,849 (GRCm38) Y455F probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm38) S162N probably damaging Het
Cuedc2 C A 19: 46,332,649 (GRCm38) V15F probably damaging Het
Defa22 T A 8: 21,163,037 (GRCm38) probably null Het
Fat1 G A 8: 45,023,949 (GRCm38) A2011T probably damaging Het
Fyb2 C T 4: 104,999,386 (GRCm38) T533I probably benign Het
Ice1 A T 13: 70,604,082 (GRCm38) V1295E possibly damaging Het
Il12b T A 11: 44,404,088 (GRCm38) S18T probably benign Het
Iqcg A G 16: 33,040,875 (GRCm38) V157A probably damaging Het
Itgax T A 7: 128,145,035 (GRCm38) M937K probably benign Het
Large1 T C 8: 73,131,989 (GRCm38) S84G probably benign Het
Lrp1b T C 2: 41,770,935 (GRCm38) T54A probably benign Het
Mfn1 A G 3: 32,542,836 (GRCm38) M148V probably damaging Het
Mobp C A 9: 120,168,234 (GRCm38) T73K probably benign Het
Ms4a3 T C 19: 11,629,655 (GRCm38) probably benign Het
Muc5ac C T 7: 141,806,943 (GRCm38) probably benign Het
Mzt2 A C 16: 15,862,410 (GRCm38) S104A possibly damaging Het
Naa16 T A 14: 79,384,715 (GRCm38) K27N probably damaging Het
Nos1 T A 5: 117,945,926 (GRCm38) I1267N probably damaging Het
Olfr16 T A 1: 172,956,924 (GRCm38) I43N probably benign Het
Rara A G 11: 98,968,184 (GRCm38) E153G possibly damaging Het
Scn2a T G 2: 65,717,748 (GRCm38) S66A probably damaging Het
Slc6a1 A T 6: 114,314,465 (GRCm38) probably null Het
Sorbs3 A G 14: 70,199,341 (GRCm38) V136A probably damaging Het
Spink5 T A 18: 43,981,147 (GRCm38) H143Q probably benign Het
Susd2 G A 10: 75,640,892 (GRCm38) T99I possibly damaging Het
T C T 17: 8,441,745 (GRCm38) probably null Het
Tac2 G A 10: 127,726,134 (GRCm38) probably null Het
Tfap4 G T 16: 4,547,359 (GRCm38) P180T probably damaging Het
Trap1 G A 16: 4,043,978 (GRCm38) Q641* probably null Het
Unc119 A G 11: 78,348,609 (GRCm38) N252S probably damaging Het
Other mutations in Gm1043
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0138:Gm1043 UTSW 5 37,192,973 (GRCm38) intron probably benign
R0724:Gm1043 UTSW 5 37,187,229 (GRCm38) missense probably damaging 1.00
R3917:Gm1043 UTSW 5 37,192,941 (GRCm38) intron probably benign
R5069:Gm1043 UTSW 5 37,187,236 (GRCm38) missense probably damaging 1.00
R5996:Gm1043 UTSW 5 37,159,824 (GRCm38) utr 3 prime probably benign
R6030:Gm1043 UTSW 5 37,154,608 (GRCm38) utr 3 prime probably benign
R6030:Gm1043 UTSW 5 37,154,608 (GRCm38) utr 3 prime probably benign
R6260:Gm1043 UTSW 5 37,174,472 (GRCm38) missense probably benign 0.04
R6643:Gm1043 UTSW 5 37,173,551 (GRCm38) missense probably benign 0.33
Posted On 2013-06-21