Incidental Mutation 'IGL01155:Gm1043'
ID51219
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm1043
Ensembl Gene ENSMUSG00000070823
Gene Namepredicted gene 1043
SynonymsLOC381634
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #IGL01155
Quality Score
Status
Chromosome5
Chromosomal Location37185897-37193023 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 37187089 bp
ZygosityHeterozygous
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]
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 V124I probably damaging Het
Adgrl3 T A 5: 81,560,893 I409N probably benign Het
Akap13 A G 7: 75,569,936 D29G probably damaging Het
Ap4e1 C A 2: 127,043,445 T322K probably damaging Het
Arfgef1 G A 1: 10,198,982 probably benign Het
Asic5 A G 3: 82,008,588 T282A probably benign Het
Bptf T C 11: 107,080,727 T985A probably damaging Het
Btnl9 A G 11: 49,175,691 F349L probably damaging Het
Bves T A 10: 45,353,859 I253K probably damaging Het
Cars T A 7: 143,569,849 Y455F probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cuedc2 C A 19: 46,332,649 V15F probably damaging Het
Defa22 T A 8: 21,163,037 probably null Het
Fat1 G A 8: 45,023,949 A2011T probably damaging Het
Fyb2 C T 4: 104,999,386 T533I probably benign Het
Ice1 A T 13: 70,604,082 V1295E possibly damaging Het
Il12b T A 11: 44,404,088 S18T probably benign Het
Iqcg A G 16: 33,040,875 V157A probably damaging Het
Itgax T A 7: 128,145,035 M937K probably benign Het
Large1 T C 8: 73,131,989 S84G probably benign Het
Lrp1b T C 2: 41,770,935 T54A probably benign Het
Mfn1 A G 3: 32,542,836 M148V probably damaging Het
Mobp C A 9: 120,168,234 T73K probably benign Het
Ms4a3 T C 19: 11,629,655 probably benign Het
Muc5ac C T 7: 141,806,943 probably benign Het
Mzt2 A C 16: 15,862,410 S104A possibly damaging Het
Naa16 T A 14: 79,384,715 K27N probably damaging Het
Nos1 T A 5: 117,945,926 I1267N probably damaging Het
Olfr16 T A 1: 172,956,924 I43N probably benign Het
Rara A G 11: 98,968,184 E153G possibly damaging Het
Scn2a T G 2: 65,717,748 S66A probably damaging Het
Slc6a1 A T 6: 114,314,465 probably null Het
Sorbs3 A G 14: 70,199,341 V136A probably damaging Het
Spink5 T A 18: 43,981,147 H143Q probably benign Het
Susd2 G A 10: 75,640,892 T99I possibly damaging Het
T C T 17: 8,441,745 probably null Het
Tac2 G A 10: 127,726,134 probably null Het
Tfap4 G T 16: 4,547,359 P180T probably damaging Het
Trap1 G A 16: 4,043,978 Q641* probably null Het
Unc119 A G 11: 78,348,609 N252S probably damaging Het
Other mutations in Gm1043
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0138:Gm1043 UTSW 5 37192973 intron probably benign
R0724:Gm1043 UTSW 5 37187229 missense probably damaging 1.00
R3917:Gm1043 UTSW 5 37192941 intron probably benign
R5069:Gm1043 UTSW 5 37187236 missense probably damaging 1.00
R5996:Gm1043 UTSW 5 37159824 utr 3 prime probably benign
R6030:Gm1043 UTSW 5 37154608 utr 3 prime probably benign
R6030:Gm1043 UTSW 5 37154608 utr 3 prime probably benign
R6260:Gm1043 UTSW 5 37174472 missense probably benign 0.04
R6643:Gm1043 UTSW 5 37173551 missense probably benign 0.33
Posted On2013-06-21