Incidental Mutation 'IGL02274:Il17rd'
| ID |
287291 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Il17rd
|
| Ensembl Gene |
ENSMUSG00000040717 |
| Gene Name |
interleukin 17 receptor D |
| Synonyms |
2810004A10Rik, Sef-S, Sef |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02274
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
26760990-26829243 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26821867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 387
(Y387C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035336]
[ENSMUST00000225146]
[ENSMUST00000226105]
|
| AlphaFold |
Q8JZL1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035336
AA Change: Y531C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036076
Gene: ENSMUSG00000040717
AA Change: Y531C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
26 |
36 |
N/A |
INTRINSIC |
|
Pfam:IL17R_D_N
|
48 |
169 |
2.7e-68 |
PFAM |
|
Pfam:SEFIR
|
356 |
511 |
9.6e-56 |
PFAM |
|
low complexity region
|
667 |
684 |
N/A |
INTRINSIC |
|
low complexity region
|
688 |
705 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225146
AA Change: Y387C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225829
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226105
AA Change: Y387C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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 membrane protein belonging to the interleukin-17 receptor (IL-17R) protein family. The encoded protein is a component of the interleukin-17 receptor signaling complex, and the interaction between this protein and IL-17R does not require the interleukin. The gene product also affects fibroblast growth factor signaling, inhibiting or stimulating growth through MAPK/ERK signaling. Alternate splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and show no obvious phenotype. A subset of mice homozygous for a gene-trapped allele display cochlear nucleus defects and abnormal auditory brainstem responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef10 |
A |
G |
8: 14,997,205 (GRCm39) |
D48G |
probably damaging |
Het |
| Asnsd1 |
T |
C |
1: 53,386,734 (GRCm39) |
I298V |
probably benign |
Het |
| Cacna2d3 |
G |
T |
14: 28,678,827 (GRCm39) |
|
probably null |
Het |
| Cbs |
T |
C |
17: 31,844,922 (GRCm39) |
|
probably null |
Het |
| Ccm2 |
C |
A |
11: 6,540,808 (GRCm39) |
T216K |
probably damaging |
Het |
| Galc |
C |
T |
12: 98,220,473 (GRCm39) |
W131* |
probably null |
Het |
| Gemin5 |
T |
C |
11: 58,047,621 (GRCm39) |
R318G |
possibly damaging |
Het |
| Gsta3 |
T |
G |
1: 21,320,012 (GRCm39) |
V6G |
possibly damaging |
Het |
| Hdlbp |
A |
T |
1: 93,336,229 (GRCm39) |
|
probably null |
Het |
| Igkv13-55-1 |
T |
G |
6: 69,577,132 (GRCm39) |
|
noncoding transcript |
Het |
| Katnip |
A |
G |
7: 125,369,742 (GRCm39) |
|
probably null |
Het |
| Kmt2e |
C |
T |
5: 23,705,758 (GRCm39) |
T1344I |
probably benign |
Het |
| L3mbtl4 |
A |
C |
17: 69,071,579 (GRCm39) |
H502P |
probably benign |
Het |
| Lrig1 |
A |
T |
6: 94,640,919 (GRCm39) |
N95K |
possibly damaging |
Het |
| Neurl2 |
G |
T |
2: 164,675,012 (GRCm39) |
R117S |
probably damaging |
Het |
| Nos1 |
G |
A |
5: 118,035,845 (GRCm39) |
A449T |
probably damaging |
Het |
| Noxa1 |
A |
T |
2: 24,975,767 (GRCm39) |
V435E |
probably benign |
Het |
| Parp9 |
C |
T |
16: 35,768,317 (GRCm39) |
R166W |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,445,735 (GRCm39) |
I158T |
probably damaging |
Het |
| Pip5k1c |
T |
C |
10: 81,142,218 (GRCm39) |
Y143H |
probably damaging |
Het |
| Qrfpr |
A |
G |
3: 36,276,285 (GRCm39) |
V35A |
probably damaging |
Het |
| Rab3gap1 |
T |
G |
1: 127,866,817 (GRCm39) |
S881A |
probably benign |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Scai |
G |
A |
2: 38,992,329 (GRCm39) |
|
probably benign |
Het |
| Skic2 |
T |
A |
17: 35,064,839 (GRCm39) |
I418F |
probably damaging |
Het |
| Tenm4 |
A |
C |
7: 96,503,941 (GRCm39) |
H1300P |
probably damaging |
Het |
| Tmppe |
A |
G |
9: 114,234,499 (GRCm39) |
H266R |
probably benign |
Het |
| Wdr11 |
A |
T |
7: 129,232,896 (GRCm39) |
|
probably null |
Het |
| Xirp2 |
A |
G |
2: 67,338,995 (GRCm39) |
E412G |
probably benign |
Het |
| Zan |
A |
G |
5: 137,419,429 (GRCm39) |
V2910A |
unknown |
Het |
|
| Other mutations in Il17rd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01349:Il17rd
|
APN |
14 |
26,817,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02732:Il17rd
|
APN |
14 |
26,809,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03118:Il17rd
|
APN |
14 |
26,815,352 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03175:Il17rd
|
APN |
14 |
26,821,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Il17rd
|
UTSW |
14 |
26,804,637 (GRCm39) |
utr 5 prime |
probably benign |
|
|
FR4449:Il17rd
|
UTSW |
14 |
26,804,635 (GRCm39) |
utr 5 prime |
probably benign |
|
|
FR4737:Il17rd
|
UTSW |
14 |
26,804,637 (GRCm39) |
utr 5 prime |
probably benign |
|
|
FR4976:Il17rd
|
UTSW |
14 |
26,804,634 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0063:Il17rd
|
UTSW |
14 |
26,804,691 (GRCm39) |
nonsense |
probably null |
|
|
R0063:Il17rd
|
UTSW |
14 |
26,804,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0076:Il17rd
|
UTSW |
14 |
26,816,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Il17rd
|
UTSW |
14 |
26,813,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1540:Il17rd
|
UTSW |
14 |
26,821,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1760:Il17rd
|
UTSW |
14 |
26,813,763 (GRCm39) |
nonsense |
probably null |
|
|
R2192:Il17rd
|
UTSW |
14 |
26,816,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2886:Il17rd
|
UTSW |
14 |
26,821,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3688:Il17rd
|
UTSW |
14 |
26,761,105 (GRCm39) |
missense |
probably null |
0.14 |
|
R4534:Il17rd
|
UTSW |
14 |
26,818,019 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5042:Il17rd
|
UTSW |
14 |
26,817,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5410:Il17rd
|
UTSW |
14 |
26,817,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5528:Il17rd
|
UTSW |
14 |
26,810,024 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5829:Il17rd
|
UTSW |
14 |
26,814,042 (GRCm39) |
splice site |
probably null |
|
|
R5919:Il17rd
|
UTSW |
14 |
26,818,001 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6305:Il17rd
|
UTSW |
14 |
26,817,899 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6739:Il17rd
|
UTSW |
14 |
26,821,488 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6829:Il17rd
|
UTSW |
14 |
26,809,379 (GRCm39) |
nonsense |
probably null |
|
|
R7301:Il17rd
|
UTSW |
14 |
26,798,348 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7336:Il17rd
|
UTSW |
14 |
26,809,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7521:Il17rd
|
UTSW |
14 |
26,816,823 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7649:Il17rd
|
UTSW |
14 |
26,761,167 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7741:Il17rd
|
UTSW |
14 |
26,822,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7814:Il17rd
|
UTSW |
14 |
26,822,074 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8363:Il17rd
|
UTSW |
14 |
26,813,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8545:Il17rd
|
UTSW |
14 |
26,813,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8889:Il17rd
|
UTSW |
14 |
26,821,930 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1177:Il17rd
|
UTSW |
14 |
26,822,218 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2015-04-16 |
Incidental Mutation