Incidental Mutation 'IGL01406:Il7r'
| ID |
79798 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Il7r
|
| Ensembl Gene |
ENSMUSG00000003882 |
| Gene Name |
interleukin 7 receptor |
| Synonyms |
IL-7 receptor alpha chain, CD127, IL-7Ralpha |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL01406
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
9505874-9530262 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 9508300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 341
(R341*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003981
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003981]
[ENSMUST00000228782]
|
| AlphaFold |
P16872 |
| PDB Structure |
Cytokine receptor complex - Crystal form 1A [X-RAY DIFFRACTION]
Cytokine receptor complex - Crystal form 1B [X-RAY DIFFRACTION]
Cytokine receptor complex - Crystal form 2 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000003981
AA Change: R341*
|
| SMART Domains |
Protein: ENSMUSP00000003981
Gene: ENSMUSG00000003882
AA Change: R341*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
|
FN3
|
129 |
216 |
1.09e1 |
SMART |
|
transmembrane domain
|
241 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
413 |
422 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227234
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228782
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Interleukin-7 is a glycoptorein involved in the regulation of lymphopoiesis. Response of cells to IL7 is dependent on the presence of the interleukin 7 receptor (IL7R); the active receptor is a alpha/gamma chain heterodimer. The gamma(c) chain, which also associates with the interleukin-2 receptor, serves primarily to activate signal transduction by the IL7R complex, while the alpha chain of IL7R determines specific signaling events through its association with cytoplasmic signaling molecules. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutations cause arrested T and B cell differentiation and severely reduced thymus and spleen cellularity. Mice homozygous for a knock-in allele show partial rescue of T cell numbers during late thymus development, and impaired CD8 T cell memory and CD4 T cell primary responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
G |
A |
5: 8,180,212 (GRCm39) |
Q558* |
probably null |
Het |
| Adam29 |
A |
T |
8: 56,324,874 (GRCm39) |
Y527N |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,351,046 (GRCm39) |
*3067W |
probably null |
Het |
| B3galt2 |
A |
T |
1: 143,522,844 (GRCm39) |
I327L |
possibly damaging |
Het |
| Cadm2 |
C |
A |
16: 66,612,192 (GRCm39) |
|
probably null |
Het |
| Cd6 |
G |
T |
19: 10,768,501 (GRCm39) |
A496E |
possibly damaging |
Het |
| Cdh16 |
A |
T |
8: 105,345,044 (GRCm39) |
I415N |
possibly damaging |
Het |
| Ces1b |
T |
C |
8: 93,798,622 (GRCm39) |
N188S |
probably damaging |
Het |
| Col4a1 |
T |
C |
8: 11,268,898 (GRCm39) |
D980G |
probably damaging |
Het |
| Dmgdh |
G |
A |
13: 93,823,539 (GRCm39) |
|
probably benign |
Het |
| Emb |
A |
T |
13: 117,405,466 (GRCm39) |
D296V |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,243,374 (GRCm39) |
S917P |
probably damaging |
Het |
| Fmnl1 |
T |
C |
11: 103,085,516 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,433,317 (GRCm39) |
Y2669C |
probably damaging |
Het |
| Gm3115 |
T |
A |
14: 4,087,137 (GRCm38) |
|
probably benign |
Het |
| Hnf1b |
C |
T |
11: 83,779,950 (GRCm39) |
P402S |
probably benign |
Het |
| Krt75 |
T |
C |
15: 101,476,460 (GRCm39) |
Y435C |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Musk |
T |
C |
4: 58,367,539 (GRCm39) |
Y578H |
probably damaging |
Het |
| Naa20 |
A |
G |
2: 145,757,726 (GRCm39) |
|
probably null |
Het |
| Ncoa7 |
T |
C |
10: 30,566,836 (GRCm39) |
D565G |
probably damaging |
Het |
| Pgap1 |
C |
T |
1: 54,572,573 (GRCm39) |
|
probably null |
Het |
| Plekha5 |
G |
A |
6: 140,518,676 (GRCm39) |
R172H |
probably damaging |
Het |
| Snx17 |
A |
G |
5: 31,353,338 (GRCm39) |
Y77C |
probably damaging |
Het |
| Spdye4b |
C |
T |
5: 143,188,166 (GRCm39) |
P220S |
probably benign |
Het |
| Tbx18 |
T |
A |
9: 87,595,596 (GRCm39) |
D326V |
probably damaging |
Het |
| Tlr12 |
A |
T |
4: 128,510,132 (GRCm39) |
L706* |
probably null |
Het |
| Tnfrsf21 |
T |
A |
17: 43,348,837 (GRCm39) |
C150S |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,042,352 (GRCm39) |
D1187G |
possibly damaging |
Het |
| Trav5-1 |
T |
C |
14: 52,860,444 (GRCm39) |
L83P |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,812,500 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Il7r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00800:Il7r
|
APN |
15 |
9,525,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01016:Il7r
|
APN |
15 |
9,510,294 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01094:Il7r
|
APN |
15 |
9,508,085 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02135:Il7r
|
APN |
15 |
9,508,092 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02642:Il7r
|
APN |
15 |
9,513,133 (GRCm39) |
splice site |
probably benign |
|
|
happy
|
UTSW |
15 |
9,508,273 (GRCm39) |
missense |
probably benign |
|
|
R0278:Il7r
|
UTSW |
15 |
9,516,423 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0322:Il7r
|
UTSW |
15 |
9,510,301 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1075:Il7r
|
UTSW |
15 |
9,516,543 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4364:Il7r
|
UTSW |
15 |
9,513,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4451:Il7r
|
UTSW |
15 |
9,513,034 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5527:Il7r
|
UTSW |
15 |
9,513,010 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5575:Il7r
|
UTSW |
15 |
9,508,273 (GRCm39) |
missense |
probably benign |
|
|
R6949:Il7r
|
UTSW |
15 |
9,508,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7479:Il7r
|
UTSW |
15 |
9,513,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7533:Il7r
|
UTSW |
15 |
9,508,047 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7682:Il7r
|
UTSW |
15 |
9,513,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8394:Il7r
|
UTSW |
15 |
9,516,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8467:Il7r
|
UTSW |
15 |
9,512,973 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9092:Il7r
|
UTSW |
15 |
9,510,270 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Il7r
|
UTSW |
15 |
9,510,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Il7r
|
UTSW |
15 |
9,508,143 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2013-11-05 |
Incidental Mutation