Incidental Mutation 'IGL02501:Ildr1'
ID 296063
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ildr1
Ensembl Gene ENSMUSG00000022900
Gene Name immunoglobulin-like domain containing receptor 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02501
Quality Score
Status
Chromosome 16
Chromosomal Location 36693978-36726804 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36722350 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 371 (S371P)
Ref Sequence ENSEMBL: ENSMUSP00000087045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023617] [ENSMUST00000089618] [ENSMUST00000119464]
AlphaFold Q8CBR1
Predicted Effect probably benign
Transcript: ENSMUST00000023617
AA Change: S415P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000023617
Gene: ENSMUSG00000022900
AA Change: S415P

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 29 165 2.34e-4 SMART
Pfam:LSR 166 213 3e-27 PFAM
low complexity region 255 268 N/A INTRINSIC
low complexity region 424 472 N/A INTRINSIC
low complexity region 481 489 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000089618
AA Change: S371P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000087045
Gene: ENSMUSG00000022900
AA Change: S371P

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 29 165 2.34e-4 SMART
Pfam:LSR 166 214 2.8e-27 PFAM
low complexity region 380 428 N/A INTRINSIC
low complexity region 437 445 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119464
AA Change: S415P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000112539
Gene: ENSMUSG00000022900
AA Change: S415P

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 29 165 2.34e-4 SMART
Pfam:LSR 166 214 3e-27 PFAM
low complexity region 255 268 N/A INTRINSIC
low complexity region 424 472 N/A INTRINSIC
low complexity region 481 489 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153802
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous inactivation of this gene leads to progressive cochlear hair cell degeneration and profound deafness. Mice homozygous for a gene trap allele also exhibit impaired lipid-induced cholecystokinin secretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 A T 3: 37,083,340 I307F probably damaging Het
Adam15 G A 3: 89,340,462 A789V possibly damaging Het
Bspry A G 4: 62,496,435 T422A probably benign Het
Btnl6 T A 17: 34,515,674 D38V possibly damaging Het
Cd59b G A 2: 104,078,928 C18Y probably damaging Het
Clstn1 T G 4: 149,631,842 I255R probably damaging Het
Dpp10 A G 1: 123,686,270 L99P possibly damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Emc1 A T 4: 139,370,984 T759S probably benign Het
Fam126b C A 1: 58,540,191 R229L probably damaging Het
Fndc1 C T 17: 7,765,398 G1232E unknown Het
Gjb3 C T 4: 127,326,364 G125D probably damaging Het
Helb A G 10: 120,102,788 S594P possibly damaging Het
Kif1b T A 4: 149,214,976 R946W probably damaging Het
Lrp12 T C 15: 39,877,904 T472A probably damaging Het
Lyst A G 13: 13,711,645 D3031G probably benign Het
Med12l A T 3: 59,261,976 T1596S possibly damaging Het
Myom1 A C 17: 71,072,081 probably null Het
Nhlrc2 T A 19: 56,570,654 Y190* probably null Het
Nol4 A T 18: 22,823,341 N115K probably damaging Het
Nrg1 T A 8: 31,818,263 probably null Het
Olfr844 T A 9: 19,318,703 H56Q probably damaging Het
Oxld1 A C 11: 120,456,888 L161R probably damaging Het
Phex A G X: 157,186,275 S568P probably damaging Het
Pkd1 T G 17: 24,569,699 S810R probably benign Het
Plin2 G T 4: 86,664,486 C84* probably null Het
Ppfia3 A T 7: 45,354,938 probably benign Het
Ptpn14 A G 1: 189,850,390 N478S probably benign Het
Pygl A G 12: 70,191,134 M801T probably benign Het
Recql5 A G 11: 115,895,091 Y619H probably benign Het
Scn3a C A 2: 65,526,555 D182Y possibly damaging Het
Serpinb6e T C 13: 33,832,802 E316G possibly damaging Het
Shroom4 A G X: 6,583,944 E386G possibly damaging Het
Slc4a2 A G 5: 24,429,434 S24G probably benign Het
Slc4a4 A G 5: 89,129,649 I282V probably benign Het
Slc8b1 C T 5: 120,520,853 R148C probably damaging Het
Stag2 A G X: 42,271,325 probably benign Het
Styx T A 14: 45,372,465 H195Q probably benign Het
Sufu A G 19: 46,450,910 I190V probably benign Het
Svep1 A G 4: 58,145,341 probably benign Het
Tbc1d31 T C 15: 57,937,948 I293T probably benign Het
Timp4 T A 6: 115,246,483 I160F probably damaging Het
Tmem87a A T 2: 120,404,053 V3E probably damaging Het
Utp4 T A 8: 106,906,241 H285Q probably benign Het
Vrk1 T G 12: 106,062,653 S305A probably benign Het
Zfp329 G T 7: 12,811,179 H139Q possibly damaging Het
Other mutations in Ildr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02505:Ildr1 APN 16 36716164 missense probably damaging 1.00
R0295:Ildr1 UTSW 16 36709477 critical splice acceptor site probably null
R1649:Ildr1 UTSW 16 36708319 missense probably damaging 1.00
R1728:Ildr1 UTSW 16 36708336 missense possibly damaging 0.80
R1990:Ildr1 UTSW 16 36716206 missense probably damaging 0.99
R2020:Ildr1 UTSW 16 36725541 missense probably damaging 0.97
R2110:Ildr1 UTSW 16 36721979 missense probably damaging 1.00
R2111:Ildr1 UTSW 16 36721979 missense probably damaging 1.00
R4755:Ildr1 UTSW 16 36722021 missense probably benign 0.00
R4798:Ildr1 UTSW 16 36722555 missense possibly damaging 0.66
R4973:Ildr1 UTSW 16 36708298 missense probably benign 0.10
R5014:Ildr1 UTSW 16 36721559 missense probably damaging 0.98
R5426:Ildr1 UTSW 16 36709619 missense probably damaging 1.00
R5957:Ildr1 UTSW 16 36725534 makesense probably null
R7058:Ildr1 UTSW 16 36722368 missense probably benign 0.01
R7646:Ildr1 UTSW 16 36721919 missense possibly damaging 0.78
R8245:Ildr1 UTSW 16 36709521 missense probably damaging 1.00
R8392:Ildr1 UTSW 16 36722358 nonsense probably null
R8392:Ildr1 UTSW 16 36722359 missense probably damaging 1.00
R8748:Ildr1 UTSW 16 36722372 missense probably benign 0.18
R8791:Ildr1 UTSW 16 36708400 missense probably damaging 0.96
R8854:Ildr1 UTSW 16 36715548 missense probably damaging 1.00
R9108:Ildr1 UTSW 16 36715557 missense probably benign 0.13
R9252:Ildr1 UTSW 16 36716212 missense probably damaging 1.00
R9372:Ildr1 UTSW 16 36722359 missense probably damaging 1.00
R9434:Ildr1 UTSW 16 36709500 missense probably damaging 1.00
Posted On 2015-04-16