Incidental Mutation 'IGL03334:Il27ra'
| ID |
416974 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Il27ra
|
| Ensembl Gene |
ENSMUSG00000005465 |
| Gene Name |
interleukin 27 receptor, alpha |
| Synonyms |
IL-27R, WSX-1, Tccr |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
IGL03334
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
84030294-84042589 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84031122 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 594
(V594A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005601]
[ENSMUST00000055077]
|
| AlphaFold |
O70394 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005601
AA Change: V594A
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000005601
Gene: ENSMUSG00000005465
AA Change: V594A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Blast:FN3
|
31 |
101 |
2e-6 |
BLAST |
|
FN3
|
123 |
210 |
3.85e-3 |
SMART |
|
FN3
|
314 |
396 |
3.78e0 |
SMART |
|
Blast:FN3
|
411 |
492 |
4e-36 |
BLAST |
|
low complexity region
|
516 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
584 |
596 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055077
|
| SMART Domains |
Protein: ENSMUSP00000051396
Gene: ENSMUSG00000047986
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
19 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
81 |
N/A |
INTRINSIC |
|
coiled coil region
|
90 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
277 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
349 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
416 |
N/A |
INTRINSIC |
|
low complexity region
|
635 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
707 |
720 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142367
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154171
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210245
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In mice, CD4+ helper T-cells differentiate into type 1 (Th1) cells, which are critical for cell-mediated immunity, predominantly under the influence of IL12. Also, IL4 influences their differentiation into type 2 (Th2) cells, which are critical for most antibody responses. Mice deficient in these cytokines, their receptors, or associated transcription factors have impaired, but are not absent of, Th1 or Th2 immune responses. This gene encodes a protein which is similar to the mouse T-cell cytokine receptor Tccr at the amino acid level, and is predicted to be a glycosylated transmembrane protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: T helper 1 response and responses to parasitic and bacterial infection are altered in homozygous mutant mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,947,475 (GRCm38) |
F762L |
probably benign |
Het |
| A430078G23Rik |
A |
T |
8: 3,388,023 (GRCm38) |
I286F |
probably benign |
Het |
| Angpt1 |
T |
A |
15: 42,496,412 (GRCm38) |
E208V |
possibly damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,274,000 (GRCm38) |
S562P |
possibly damaging |
Het |
| Asb6 |
T |
C |
2: 30,824,484 (GRCm38) |
T205A |
probably benign |
Het |
| B4galnt4 |
G |
A |
7: 141,067,441 (GRCm38) |
|
probably null |
Het |
| Clca4a |
A |
T |
3: 144,953,866 (GRCm38) |
M743K |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,448,821 (GRCm38) |
|
probably benign |
Het |
| Col27a1 |
A |
T |
4: 63,314,722 (GRCm38) |
Y359F |
probably damaging |
Het |
| Dhcr7 |
T |
A |
7: 143,840,497 (GRCm38) |
V125D |
possibly damaging |
Het |
| Ercc3 |
T |
C |
18: 32,240,837 (GRCm38) |
|
probably null |
Het |
| Fnbp1l |
A |
G |
3: 122,557,949 (GRCm38) |
V315A |
probably benign |
Het |
| Gm17174 |
T |
A |
14: 51,591,963 (GRCm38) |
R48* |
probably null |
Het |
| Golga4 |
C |
T |
9: 118,537,233 (GRCm38) |
|
probably benign |
Het |
| Grin1 |
C |
T |
2: 25,298,393 (GRCm38) |
|
probably null |
Het |
| Ifi203 |
T |
A |
1: 173,937,835 (GRCm38) |
K58* |
probably null |
Het |
| Ighv2-9-1 |
A |
G |
12: 113,769,923 (GRCm38) |
S93P |
probably benign |
Het |
| Krr1 |
T |
G |
10: 111,980,054 (GRCm38) |
S275R |
probably benign |
Het |
| Lars |
T |
C |
18: 42,221,506 (GRCm38) |
D792G |
probably benign |
Het |
| Myo1f |
G |
A |
17: 33,598,194 (GRCm38) |
R737H |
probably damaging |
Het |
| Nebl |
T |
A |
2: 17,413,711 (GRCm38) |
H292L |
probably damaging |
Het |
| Nell1 |
C |
A |
7: 50,062,611 (GRCm38) |
|
probably null |
Het |
| Nktr |
T |
C |
9: 121,748,176 (GRCm38) |
F412L |
probably benign |
Het |
| Nlrp3 |
T |
A |
11: 59,549,016 (GRCm38) |
I473N |
probably damaging |
Het |
| Olfr338 |
T |
C |
2: 36,377,051 (GRCm38) |
Y92H |
possibly damaging |
Het |
| Phf3 |
A |
G |
1: 30,805,729 (GRCm38) |
V1383A |
probably damaging |
Het |
| Prss48 |
T |
C |
3: 85,997,318 (GRCm38) |
E191G |
probably damaging |
Het |
| Psg25 |
T |
A |
7: 18,529,774 (GRCm38) |
L41F |
probably benign |
Het |
| Sema3b |
A |
G |
9: 107,604,077 (GRCm38) |
L78P |
probably damaging |
Het |
| Spen |
G |
T |
4: 141,469,969 (GRCm38) |
N3496K |
probably damaging |
Het |
| Tbk1 |
A |
T |
10: 121,584,199 (GRCm38) |
H28Q |
possibly damaging |
Het |
| Trpv3 |
T |
A |
11: 73,281,665 (GRCm38) |
|
probably benign |
Het |
| Vmn1r218 |
T |
C |
13: 23,136,618 (GRCm38) |
L45P |
probably damaging |
Het |
| Vmn2r35 |
T |
A |
7: 7,786,494 (GRCm38) |
Y748F |
probably damaging |
Het |
| Vps18 |
C |
T |
2: 119,297,482 (GRCm38) |
R929W |
probably damaging |
Het |
| Xpnpep1 |
T |
C |
19: 53,010,146 (GRCm38) |
K224E |
probably damaging |
Het |
| Zbed5 |
T |
A |
5: 129,902,355 (GRCm38) |
F382I |
possibly damaging |
Het |
|
| Other mutations in Il27ra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02873:Il27ra
|
APN |
8 |
84,031,535 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03096:Il27ra
|
APN |
8 |
84,031,532 (GRCm38) |
missense |
probably damaging |
1.00 |
|
angel
|
UTSW |
8 |
84,032,144 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
Gabriel
|
UTSW |
8 |
84,033,985 (GRCm38) |
missense |
probably damaging |
0.97 |
|
Hanger
|
UTSW |
8 |
84,041,091 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
herald
|
UTSW |
8 |
84,033,949 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0133:Il27ra
|
UTSW |
8 |
84,033,942 (GRCm38) |
unclassified |
probably benign |
|
|
R0526:Il27ra
|
UTSW |
8 |
84,039,499 (GRCm38) |
missense |
probably benign |
0.37 |
|
R2914:Il27ra
|
UTSW |
8 |
84,031,613 (GRCm38) |
unclassified |
probably benign |
|
|
R3001:Il27ra
|
UTSW |
8 |
84,032,031 (GRCm38) |
nonsense |
probably null |
|
|
R3002:Il27ra
|
UTSW |
8 |
84,032,031 (GRCm38) |
nonsense |
probably null |
|
|
R3003:Il27ra
|
UTSW |
8 |
84,032,031 (GRCm38) |
nonsense |
probably null |
|
|
R3851:Il27ra
|
UTSW |
8 |
84,040,688 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3978:Il27ra
|
UTSW |
8 |
84,040,684 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4589:Il27ra
|
UTSW |
8 |
84,036,409 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4997:Il27ra
|
UTSW |
8 |
84,039,527 (GRCm38) |
nonsense |
probably null |
|
|
R5133:Il27ra
|
UTSW |
8 |
84,034,059 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R5955:Il27ra
|
UTSW |
8 |
84,040,822 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6153:Il27ra
|
UTSW |
8 |
84,032,144 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6489:Il27ra
|
UTSW |
8 |
84,031,550 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7465:Il27ra
|
UTSW |
8 |
84,039,612 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7828:Il27ra
|
UTSW |
8 |
84,031,558 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7890:Il27ra
|
UTSW |
8 |
84,033,985 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8051:Il27ra
|
UTSW |
8 |
84,033,949 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8137:Il27ra
|
UTSW |
8 |
84,041,091 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R8335:Il27ra
|
UTSW |
8 |
84,039,501 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8473:Il27ra
|
UTSW |
8 |
84,042,106 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8755:Il27ra
|
UTSW |
8 |
84,039,359 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8963:Il27ra
|
UTSW |
8 |
84,041,082 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0013:Il27ra
|
UTSW |
8 |
84,042,159 (GRCm38) |
missense |
probably benign |
0.21 |
|
Z1176:Il27ra
|
UTSW |
8 |
84,040,990 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Il27ra
|
UTSW |
8 |
84,040,975 (GRCm38) |
frame shift |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation