Incidental Mutation 'IGL02112:Liat1'
ID 280200
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Liat1
Ensembl Gene ENSMUSG00000053783
Gene Name ligand of ATE1
Synonyms 1700016K19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02112
Quality Score
Status
Chromosome 11
Chromosomal Location 75890738-75894395 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 75894214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 197 (C197F)
Ref Sequence ENSEMBL: ENSMUSP00000063358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066408]
AlphaFold Q810M6
Predicted Effect probably benign
Transcript: ENSMUST00000066408
AA Change: C197F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000063358
Gene: ENSMUSG00000053783
AA Change: C197F

DomainStartEndE-ValueType
low complexity region 2 31 N/A INTRINSIC
low complexity region 49 67 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T A 8: 44,104,175 (GRCm39) Y490F possibly damaging Het
Appbp2 A T 11: 85,092,446 (GRCm39) H271Q probably benign Het
Arhgap17 A T 7: 122,917,640 (GRCm39) D181E possibly damaging Het
Arhgap25 T A 6: 87,444,919 (GRCm39) Y286F possibly damaging Het
Atf2 T C 2: 73,649,381 (GRCm39) K352R probably damaging Het
Bdp1 G A 13: 100,174,308 (GRCm39) T2076I probably benign Het
C1s2 A G 6: 124,602,267 (GRCm39) V642A probably benign Het
Cldn18 T A 9: 99,580,128 (GRCm39) T170S probably benign Het
Cntnap5c T A 17: 58,620,853 (GRCm39) H977Q probably benign Het
Col15a1 T A 4: 47,253,985 (GRCm39) probably benign Het
Csmd1 A T 8: 16,131,719 (GRCm39) Y1669N probably benign Het
Csmd3 A C 15: 48,177,265 (GRCm39) S424R possibly damaging Het
Cyp4a31 A G 4: 115,428,180 (GRCm39) D306G probably damaging Het
E2f2 A G 4: 135,920,145 (GRCm39) T377A probably benign Het
Edil3 A G 13: 89,328,374 (GRCm39) D276G probably damaging Het
Ei24 A T 9: 36,693,638 (GRCm39) Y305N probably damaging Het
Erbin T C 13: 103,998,844 (GRCm39) N181D probably benign Het
Gli3 A G 13: 15,837,099 (GRCm39) Q494R probably damaging Het
Gm16519 T C 17: 71,236,291 (GRCm39) I80T probably damaging Het
Haus8 T A 8: 71,708,205 (GRCm39) E163V probably damaging Het
Hephl1 G T 9: 14,993,111 (GRCm39) probably benign Het
Hnrnph3 A G 10: 62,852,184 (GRCm39) probably null Het
Mast2 A T 4: 116,176,961 (GRCm39) C437S probably damaging Het
Mef2a A C 7: 66,914,620 (GRCm39) S91R probably damaging Het
Mfge8 A T 7: 78,793,088 (GRCm39) V126D probably benign Het
Nrdc A G 4: 108,884,629 (GRCm39) probably benign Het
Or7d10 T A 9: 19,831,821 (GRCm39) N105K possibly damaging Het
Panx2 A G 15: 88,953,772 (GRCm39) T576A probably benign Het
Per3 T C 4: 151,113,640 (GRCm39) Y306C probably benign Het
Ppm1h G A 10: 122,638,305 (GRCm39) G192R possibly damaging Het
Prss22 T C 17: 24,212,945 (GRCm39) E264G probably damaging Het
Rasa3 A G 8: 13,635,042 (GRCm39) probably benign Het
Rpl7a-ps8 C A 7: 19,687,985 (GRCm39) probably benign Het
Rundc1 A G 11: 101,324,425 (GRCm39) D377G probably benign Het
Sh3bp1 T C 15: 78,790,084 (GRCm39) probably null Het
Sobp A G 10: 42,897,873 (GRCm39) S571P probably benign Het
Styxl2 C A 1: 165,927,240 (GRCm39) E791* probably null Het
Syce1 C A 7: 140,359,545 (GRCm39) M114I probably benign Het
Tdrd6 G A 17: 43,940,242 (GRCm39) R269W probably damaging Het
Tmprss13 T C 9: 45,250,702 (GRCm39) S408P probably damaging Het
Tonsl T C 15: 76,517,602 (GRCm39) T706A probably benign Het
Tpcn2 A G 7: 144,810,529 (GRCm39) S603P probably benign Het
Trmt12 A T 15: 58,744,665 (GRCm39) Q21L probably damaging Het
Vmn1r68 C T 7: 10,261,787 (GRCm39) G104S probably damaging Het
Vmn2r82 T C 10: 79,231,833 (GRCm39) W611R probably benign Het
Vmn2r90 C A 17: 17,932,465 (GRCm39) T124K probably damaging Het
Vmn2r99 A G 17: 19,600,494 (GRCm39) E506G probably null Het
Other mutations in Liat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Liat1 APN 11 75,894,192 (GRCm39) missense probably benign 0.00
IGL01089:Liat1 APN 11 75,894,163 (GRCm39) missense possibly damaging 0.82
IGL02152:Liat1 APN 11 75,894,051 (GRCm39) missense probably benign 0.27
IGL02189:Liat1 APN 11 75,891,056 (GRCm39) missense probably damaging 1.00
R0025:Liat1 UTSW 11 75,890,941 (GRCm39) small deletion probably benign
R1562:Liat1 UTSW 11 75,894,024 (GRCm39) missense probably damaging 0.99
R2068:Liat1 UTSW 11 75,891,077 (GRCm39) missense possibly damaging 0.48
R5027:Liat1 UTSW 11 75,891,047 (GRCm39) missense probably damaging 1.00
R5663:Liat1 UTSW 11 75,891,047 (GRCm39) missense probably damaging 1.00
R6242:Liat1 UTSW 11 75,890,981 (GRCm39) missense probably damaging 0.99
R7381:Liat1 UTSW 11 75,893,833 (GRCm39) missense probably damaging 1.00
R9092:Liat1 UTSW 11 75,893,887 (GRCm39) missense possibly damaging 0.48
Posted On 2015-04-16