Incidental Mutation 'IGL03118:Il17rd'
ID |
409891 |
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 # |
IGL03118
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
26760990-26829243 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to G
at 26815352 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153140
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035336]
[ENSMUST00000035336]
[ENSMUST00000223942]
[ENSMUST00000225146]
[ENSMUST00000225146]
[ENSMUST00000226105]
[ENSMUST00000226105]
|
AlphaFold |
Q8JZL1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000035336
|
SMART Domains |
Protein: ENSMUSP00000036076 Gene: ENSMUSG00000040717
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 null
Transcript: ENSMUST00000035336
|
SMART Domains |
Protein: ENSMUSP00000036076 Gene: ENSMUSG00000040717
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 benign
Transcript: ENSMUST00000223942
|
Predicted Effect |
probably null
Transcript: ENSMUST00000225146
|
Predicted Effect |
probably null
Transcript: ENSMUST00000225146
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225829
|
Predicted Effect |
probably null
Transcript: ENSMUST00000226105
|
Predicted Effect |
probably null
Transcript: ENSMUST00000226105
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
G |
A |
17: 24,619,424 (GRCm39) |
G921S |
probably benign |
Het |
Abca8b |
T |
C |
11: 109,838,007 (GRCm39) |
T1082A |
possibly damaging |
Het |
B9d2 |
T |
C |
7: 25,380,901 (GRCm39) |
|
probably null |
Het |
Bfsp1 |
T |
C |
2: 143,669,253 (GRCm39) |
E442G |
possibly damaging |
Het |
Bpifb5 |
C |
T |
2: 154,078,673 (GRCm39) |
|
probably benign |
Het |
Ccl1 |
A |
G |
11: 82,068,896 (GRCm39) |
I47T |
probably damaging |
Het |
Cln3 |
T |
C |
7: 126,174,569 (GRCm39) |
I285V |
probably null |
Het |
Cyp4a12b |
G |
T |
4: 115,290,173 (GRCm39) |
R242I |
possibly damaging |
Het |
Dcc |
T |
C |
18: 71,553,344 (GRCm39) |
T771A |
probably benign |
Het |
Erbb4 |
T |
C |
1: 68,081,878 (GRCm39) |
D1052G |
probably benign |
Het |
Fcnb |
T |
C |
2: 27,966,630 (GRCm39) |
N301S |
probably benign |
Het |
Gm28043 |
A |
C |
17: 29,853,705 (GRCm39) |
E403A |
probably damaging |
Het |
Gria4 |
A |
G |
9: 4,793,804 (GRCm39) |
|
probably benign |
Het |
Ighv5-12 |
T |
A |
12: 113,666,198 (GRCm39) |
M1L |
probably benign |
Het |
Kcnn3 |
T |
A |
3: 89,574,468 (GRCm39) |
L660Q |
probably damaging |
Het |
Lcor |
C |
T |
19: 41,546,808 (GRCm39) |
P131S |
probably damaging |
Het |
Leng1 |
T |
C |
7: 3,668,409 (GRCm39) |
N13S |
probably damaging |
Het |
Loxhd1 |
T |
C |
18: 77,468,160 (GRCm39) |
V827A |
probably damaging |
Het |
Mapk13 |
A |
G |
17: 28,996,709 (GRCm39) |
Y208C |
probably benign |
Het |
Mybpc3 |
T |
C |
2: 90,954,848 (GRCm39) |
V453A |
probably damaging |
Het |
Odam |
T |
C |
5: 88,033,613 (GRCm39) |
S15P |
unknown |
Het |
Or11l3 |
A |
T |
11: 58,516,269 (GRCm39) |
V201D |
probably damaging |
Het |
Or8d1 |
A |
T |
9: 38,766,526 (GRCm39) |
H56L |
probably damaging |
Het |
Pcdhb19 |
T |
C |
18: 37,632,618 (GRCm39) |
|
probably benign |
Het |
Per2 |
G |
T |
1: 91,372,341 (GRCm39) |
Y244* |
probably null |
Het |
Pik3ca |
A |
T |
3: 32,514,084 (GRCm39) |
I857F |
probably damaging |
Het |
Pold1 |
T |
A |
7: 44,188,824 (GRCm39) |
I447F |
probably benign |
Het |
Ppm1f |
T |
A |
16: 16,731,942 (GRCm39) |
W131R |
probably null |
Het |
Ppp2r2c |
A |
G |
5: 37,083,660 (GRCm39) |
Y67C |
probably damaging |
Het |
Psmb10 |
A |
T |
8: 106,663,532 (GRCm39) |
H155Q |
probably damaging |
Het |
Ptbp3 |
G |
A |
4: 59,501,470 (GRCm39) |
A149V |
probably benign |
Het |
Pygb |
T |
A |
2: 150,662,731 (GRCm39) |
V566E |
probably benign |
Het |
Rictor |
G |
A |
15: 6,788,999 (GRCm39) |
R205Q |
possibly damaging |
Het |
Ryr1 |
T |
A |
7: 28,715,211 (GRCm39) |
R4638W |
unknown |
Het |
Semp2l2a |
C |
T |
8: 13,888,096 (GRCm39) |
|
probably benign |
Het |
Septin3 |
G |
A |
15: 82,168,715 (GRCm39) |
|
probably null |
Het |
Serpina3b |
A |
T |
12: 104,097,313 (GRCm39) |
D198V |
probably benign |
Het |
Slc27a6 |
C |
A |
18: 58,689,815 (GRCm39) |
H94N |
probably benign |
Het |
Taf2 |
C |
T |
15: 54,915,559 (GRCm39) |
V456M |
probably damaging |
Het |
Tbpl2 |
T |
C |
2: 23,977,301 (GRCm39) |
E238G |
probably benign |
Het |
Ttn |
C |
T |
2: 76,584,551 (GRCm39) |
V20440I |
possibly damaging |
Het |
Zfp638 |
T |
A |
6: 83,912,000 (GRCm39) |
|
probably benign |
Het |
Zfp865 |
T |
C |
7: 5,037,644 (GRCm39) |
|
probably benign |
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 |
IGL02274:Il17rd
|
APN |
14 |
26,821,867 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02732:Il17rd
|
APN |
14 |
26,809,376 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2016-08-02 |