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 |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02501
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
36514340-36547166 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36542712 bp (GRCm39)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad1 |
A |
T |
3: 37,137,489 (GRCm39) |
I307F |
probably damaging |
Het |
| Adam15 |
G |
A |
3: 89,247,769 (GRCm39) |
A789V |
possibly damaging |
Het |
| Bspry |
A |
G |
4: 62,414,672 (GRCm39) |
T422A |
probably benign |
Het |
| Btnl6 |
T |
A |
17: 34,734,648 (GRCm39) |
D38V |
possibly damaging |
Het |
| Cd59b |
G |
A |
2: 103,909,273 (GRCm39) |
C18Y |
probably damaging |
Het |
| Clstn1 |
T |
G |
4: 149,716,299 (GRCm39) |
I255R |
probably damaging |
Het |
| Dpp10 |
A |
G |
1: 123,613,999 (GRCm39) |
L99P |
possibly damaging |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Emc1 |
A |
T |
4: 139,098,295 (GRCm39) |
T759S |
probably benign |
Het |
| Fndc1 |
C |
T |
17: 7,984,230 (GRCm39) |
G1232E |
unknown |
Het |
| Gjb3 |
C |
T |
4: 127,220,157 (GRCm39) |
G125D |
probably damaging |
Het |
| Helb |
A |
G |
10: 119,938,693 (GRCm39) |
S594P |
possibly damaging |
Het |
| Hycc2 |
C |
A |
1: 58,579,350 (GRCm39) |
R229L |
probably damaging |
Het |
| Kif1b |
T |
A |
4: 149,299,433 (GRCm39) |
R946W |
probably damaging |
Het |
| Lrp12 |
T |
C |
15: 39,741,300 (GRCm39) |
T472A |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,886,230 (GRCm39) |
D3031G |
probably benign |
Het |
| Med12l |
A |
T |
3: 59,169,397 (GRCm39) |
T1596S |
possibly damaging |
Het |
| Myom1 |
A |
C |
17: 71,379,076 (GRCm39) |
|
probably null |
Het |
| Nhlrc2 |
T |
A |
19: 56,559,086 (GRCm39) |
Y190* |
probably null |
Het |
| Nol4 |
A |
T |
18: 22,956,398 (GRCm39) |
N115K |
probably damaging |
Het |
| Nrg1 |
T |
A |
8: 32,308,291 (GRCm39) |
|
probably null |
Het |
| Or7g26 |
T |
A |
9: 19,229,999 (GRCm39) |
H56Q |
probably damaging |
Het |
| Oxld1 |
A |
C |
11: 120,347,714 (GRCm39) |
L161R |
probably damaging |
Het |
| Phex |
A |
G |
X: 155,969,271 (GRCm39) |
S568P |
probably damaging |
Het |
| Pkd1 |
T |
G |
17: 24,788,673 (GRCm39) |
S810R |
probably benign |
Het |
| Plin2 |
G |
T |
4: 86,582,723 (GRCm39) |
C84* |
probably null |
Het |
| Ppfia3 |
A |
T |
7: 45,004,362 (GRCm39) |
|
probably benign |
Het |
| Ptpn14 |
A |
G |
1: 189,582,587 (GRCm39) |
N478S |
probably benign |
Het |
| Pygl |
A |
G |
12: 70,237,908 (GRCm39) |
M801T |
probably benign |
Het |
| Recql5 |
A |
G |
11: 115,785,917 (GRCm39) |
Y619H |
probably benign |
Het |
| Scn3a |
C |
A |
2: 65,356,899 (GRCm39) |
D182Y |
possibly damaging |
Het |
| Serpinb6e |
T |
C |
13: 34,016,785 (GRCm39) |
E316G |
possibly damaging |
Het |
| Shroom4 |
A |
G |
X: 6,495,998 (GRCm39) |
E386G |
possibly damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,634,432 (GRCm39) |
S24G |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,277,508 (GRCm39) |
I282V |
probably benign |
Het |
| Slc8b1 |
C |
T |
5: 120,658,918 (GRCm39) |
R148C |
probably damaging |
Het |
| Stag2 |
A |
G |
X: 41,360,202 (GRCm39) |
|
probably benign |
Het |
| Styx |
T |
A |
14: 45,609,922 (GRCm39) |
H195Q |
probably benign |
Het |
| Sufu |
A |
G |
19: 46,439,349 (GRCm39) |
I190V |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,145,341 (GRCm39) |
|
probably benign |
Het |
| Tbc1d31 |
T |
C |
15: 57,801,344 (GRCm39) |
I293T |
probably benign |
Het |
| Timp4 |
T |
A |
6: 115,223,444 (GRCm39) |
I160F |
probably damaging |
Het |
| Tmem87a |
A |
T |
2: 120,234,534 (GRCm39) |
V3E |
probably damaging |
Het |
| Utp4 |
T |
A |
8: 107,632,873 (GRCm39) |
H285Q |
probably benign |
Het |
| Vrk1 |
T |
G |
12: 106,028,912 (GRCm39) |
S305A |
probably benign |
Het |
| Zfp329 |
G |
T |
7: 12,545,106 (GRCm39) |
H139Q |
possibly damaging |
Het |
|
| Other mutations in Ildr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02505:Ildr1
|
APN |
16 |
36,536,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0295:Ildr1
|
UTSW |
16 |
36,529,839 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1649:Ildr1
|
UTSW |
16 |
36,528,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Ildr1
|
UTSW |
16 |
36,528,698 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1990:Ildr1
|
UTSW |
16 |
36,536,568 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2020:Ildr1
|
UTSW |
16 |
36,545,903 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2110:Ildr1
|
UTSW |
16 |
36,542,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2111:Ildr1
|
UTSW |
16 |
36,542,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4755:Ildr1
|
UTSW |
16 |
36,542,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4798:Ildr1
|
UTSW |
16 |
36,542,917 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4973:Ildr1
|
UTSW |
16 |
36,528,660 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5014:Ildr1
|
UTSW |
16 |
36,541,921 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5426:Ildr1
|
UTSW |
16 |
36,529,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5957:Ildr1
|
UTSW |
16 |
36,545,896 (GRCm39) |
makesense |
probably null |
|
|
R7058:Ildr1
|
UTSW |
16 |
36,542,730 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7646:Ildr1
|
UTSW |
16 |
36,542,281 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8245:Ildr1
|
UTSW |
16 |
36,529,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8392:Ildr1
|
UTSW |
16 |
36,542,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8392:Ildr1
|
UTSW |
16 |
36,542,720 (GRCm39) |
nonsense |
probably null |
|
|
R8748:Ildr1
|
UTSW |
16 |
36,542,734 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8791:Ildr1
|
UTSW |
16 |
36,528,762 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8854:Ildr1
|
UTSW |
16 |
36,535,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9108:Ildr1
|
UTSW |
16 |
36,535,919 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9252:Ildr1
|
UTSW |
16 |
36,536,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9372:Ildr1
|
UTSW |
16 |
36,542,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9434:Ildr1
|
UTSW |
16 |
36,529,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9642:Ildr1
|
UTSW |
16 |
36,536,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9681:Ildr1
|
UTSW |
16 |
36,528,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9707:Ildr1
|
UTSW |
16 |
36,529,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9777:Ildr1
|
UTSW |
16 |
36,528,659 (GRCm39) |
missense |
probably benign |
0.28 |
|
| Posted On |
2015-04-16 |
Incidental Mutation