Incidental Mutation 'IGL01629:Gm45213'
ID 92860
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm45213
Ensembl Gene ENSMUSG00000108793
Gene Name predicted gene 45213
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL01629
Quality Score
Status
Chromosome 7
Chromosomal Location 65693350-65712019 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65711962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 58 (D58G)
Ref Sequence ENSEMBL: ENSMUSP00000032723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032723] [ENSMUST00000153609]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032723
AA Change: D58G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032723
Gene: ENSMUSG00000030512
AA Change: D58G

DomainStartEndE-ValueType
Blast:LRR 63 86 1e-6 BLAST
LRRcap 128 146 2.63e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123157
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138271
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139082
Predicted Effect probably benign
Transcript: ENSMUST00000153609
AA Change: D58G

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000117947
Gene: ENSMUSG00000030512
AA Change: D58G

DomainStartEndE-ValueType
Blast:LRR 63 86 3e-6 BLAST
LRRcap 128 146 2.63e-3 SMART
Predicted Effect unknown
Transcript: ENSMUST00000206065
AA Change: D82G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206150
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206409
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206166
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra2 G A 8: 27,608,761 (GRCm39) A540T possibly damaging Het
Adm2 T A 15: 89,207,605 (GRCm39) probably null Het
Alox12 G A 11: 70,133,660 (GRCm39) P555S probably damaging Het
Alpk2 A G 18: 65,433,113 (GRCm39) S1798P probably damaging Het
Amfr T A 8: 94,714,136 (GRCm39) probably null Het
Arhgef18 T A 8: 3,431,942 (GRCm39) C168S possibly damaging Het
Atxn7l3 A T 11: 102,183,320 (GRCm39) probably benign Het
Ccdc191 A G 16: 43,779,663 (GRCm39) K707E possibly damaging Het
Cdc5l G T 17: 45,724,116 (GRCm39) D391E probably benign Het
Cmtm2b T C 8: 105,056,420 (GRCm39) S110P possibly damaging Het
Cyp2j8 T C 4: 96,387,840 (GRCm39) D207G probably damaging Het
Ddhd2 A G 8: 26,225,855 (GRCm39) F501L possibly damaging Het
Dnaaf6rt T A 1: 31,262,014 (GRCm39) probably null Het
Dnah1 C T 14: 31,014,277 (GRCm39) V1823M probably damaging Het
Gjb4 T C 4: 127,245,419 (GRCm39) D174G possibly damaging Het
Hes1 C T 16: 29,884,976 (GRCm39) probably benign Het
Krt33b T A 11: 99,920,386 (GRCm39) Q89L probably benign Het
Llcfc1 C A 6: 41,661,459 (GRCm39) S3Y possibly damaging Het
Ltf A G 9: 110,864,874 (GRCm39) N569S probably damaging Het
Mknk1 T A 4: 115,732,731 (GRCm39) W320R probably damaging Het
Mrgprx3-ps T A 7: 46,959,353 (GRCm39) K213* probably null Het
Mslnl T G 17: 25,963,749 (GRCm39) V388G possibly damaging Het
Nfkb1 T C 3: 135,307,228 (GRCm39) I566V probably benign Het
Npy1r G A 8: 67,156,873 (GRCm39) V98I probably benign Het
Phf1 G T 17: 27,153,247 (GRCm39) A22S probably benign Het
Plcg1 T G 2: 160,599,930 (GRCm39) F897V possibly damaging Het
Ric1 A T 19: 29,581,381 (GRCm39) E1367D probably benign Het
Slc24a3 T C 2: 145,482,130 (GRCm39) probably benign Het
Sorl1 A G 9: 41,968,565 (GRCm39) probably null Het
Speer4a2 C T 5: 26,290,700 (GRCm39) S157N probably damaging Het
Spink5 T C 18: 44,129,677 (GRCm39) probably benign Het
Syne2 A G 12: 76,051,377 (GRCm39) I4036V possibly damaging Het
Taok1 A T 11: 77,429,030 (GRCm39) M890K possibly damaging Het
Tenm2 A T 11: 36,755,711 (GRCm39) Y96N probably damaging Het
Ttll10 T A 4: 156,131,351 (GRCm39) T233S probably benign Het
Vps39 G T 2: 120,154,079 (GRCm39) L628M probably benign Het
Zfp563 G A 17: 33,323,600 (GRCm39) R105H probably damaging Het
Posted On 2013-12-09