Incidental Mutation 'IGL00907:Kir3dl1'
ID29572
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kir3dl1
Ensembl Gene ENSMUSG00000031424
Gene Namekiller cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
SynonymsKirl1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL00907
Quality Score
Status
ChromosomeX
Chromosomal Location136517999-136534309 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 136525162 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 95 (C95Y)
Ref Sequence ENSEMBL: ENSMUSP00000108729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113104] [ENSMUST00000113105] [ENSMUST00000113108]
Predicted Effect probably benign
Transcript: ENSMUST00000113104
SMART Domains Protein: ENSMUSP00000108728
Gene: ENSMUSG00000031424

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IG 34 125 1.03e0 SMART
IG_like 137 222 1.28e2 SMART
low complexity region 245 260 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113105
AA Change: C95Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108729
Gene: ENSMUSG00000031424
AA Change: C95Y

DomainStartEndE-ValueType
IG 34 116 7.7e-5 SMART
IG 127 218 1.03e0 SMART
IG_like 230 315 1.28e2 SMART
transmembrane domain 337 359 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113108
SMART Domains Protein: ENSMUSP00000108732
Gene: ENSMUSG00000057439

DomainStartEndE-ValueType
IG 34 116 1.25e-4 SMART
IG 127 218 4.04e0 SMART
IG_like 230 315 1.06e2 SMART
transmembrane domain 338 360 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armt1 A G 10: 4,454,051 F379V possibly damaging Het
Atp8b1 T C 18: 64,561,705 D502G possibly damaging Het
Brwd3 A G X: 108,784,246 probably benign Het
Ccdc171 T A 4: 83,864,249 H1259Q probably damaging Het
Chd7 T C 4: 8,840,435 I1401T probably damaging Het
Csf1 T C 3: 107,750,346 N76S probably damaging Het
Dld A G 12: 31,332,330 probably benign Het
Eif5 T A 12: 111,540,555 I141N probably damaging Het
Etl4 G A 2: 20,766,478 G674D possibly damaging Het
Fam234a G A 17: 26,213,526 R550W probably damaging Het
Hipk2 A G 6: 38,818,273 S347P probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hsd17b2 A T 8: 117,734,694 I157L probably benign Het
Ibtk A G 9: 85,690,331 S1269P possibly damaging Het
Igsf3 T C 3: 101,427,448 probably benign Het
Kin G A 2: 10,080,704 R25H probably damaging Het
Kin T C 2: 10,080,706 W26R probably damaging Het
Lamc2 A G 1: 153,144,651 V383A probably benign Het
Mael A G 1: 166,204,849 Y314H probably damaging Het
Npat T C 9: 53,563,290 V794A possibly damaging Het
Nr4a2 T A 2: 57,109,217 I340F probably damaging Het
Olfr1195 A G 2: 88,683,294 V146A probably benign Het
Olfr477 A T 7: 107,990,890 D175V probably damaging Het
Olfr836 T A 9: 19,121,232 D89E possibly damaging Het
Pdcd11 T C 19: 47,107,564 V641A probably benign Het
Phf24 C T 4: 42,938,667 T264I probably benign Het
Sars2 G T 7: 28,753,423 probably benign Het
Scn1a A C 2: 66,327,797 S411A probably damaging Het
Srsf5 T C 12: 80,947,834 V112A probably damaging Het
Susd2 T C 10: 75,640,931 N206S probably benign Het
Thrap3 C T 4: 126,165,578 G892S probably benign Het
Ttc32 T A 12: 9,034,953 Y58N probably damaging Het
Other mutations in Kir3dl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01137:Kir3dl1 APN X 136526611 missense probably damaging 1.00
R0626:Kir3dl1 UTSW X 136533845 splice site probably null
R2265:Kir3dl1 UTSW X 136525035 missense probably benign
R2268:Kir3dl1 UTSW X 136525035 missense probably benign
R5725:Kir3dl1 UTSW X 136526482 missense probably damaging 0.96
R5739:Kir3dl1 UTSW X 136526482 missense probably damaging 0.96
R5741:Kir3dl1 UTSW X 136526482 missense probably damaging 0.96
Posted On2013-04-17