Incidental Mutation 'IGL00800:Il7r'
| ID |
11456 |
| 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 # |
IGL00800
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
9505874-9530262 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 9525195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 56
(T56P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003981]
[ENSMUST00000228782]
|
| AlphaFold |
P16872 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003981
AA Change: T56P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000003981
Gene: ENSMUSG00000003882
AA Change: T56P
| 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 |
noncoding transcript
Transcript: ENSMUST00000228673
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228782
AA Change: T56P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| 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: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,854,613 (GRCm39) |
I926L |
probably benign |
Het |
| Adam6b |
T |
C |
12: 113,454,062 (GRCm39) |
V293A |
probably benign |
Het |
| Adamts14 |
T |
A |
10: 61,041,197 (GRCm39) |
T838S |
probably benign |
Het |
| Cdk13 |
A |
G |
13: 17,902,727 (GRCm39) |
V941A |
probably damaging |
Het |
| Cep128 |
T |
C |
12: 91,222,438 (GRCm39) |
K762E |
possibly damaging |
Het |
| Dysf |
A |
G |
6: 84,126,980 (GRCm39) |
N1366S |
probably damaging |
Het |
| Gfra4 |
A |
G |
2: 130,882,203 (GRCm39) |
S268P |
possibly damaging |
Het |
| Ipo13 |
C |
T |
4: 117,769,505 (GRCm39) |
D96N |
probably benign |
Het |
| Kl |
G |
A |
5: 150,904,233 (GRCm39) |
W328* |
probably null |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,326,526 (GRCm39) |
D2732E |
probably benign |
Het |
| Rpf2 |
G |
A |
10: 40,115,755 (GRCm39) |
Q75* |
probably null |
Het |
| Scd2 |
T |
C |
19: 44,286,569 (GRCm39) |
L133P |
probably damaging |
Het |
| Slc6a6 |
T |
A |
6: 91,718,151 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Il7r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL01406:Il7r
|
APN |
15 |
9,508,300 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2012-12-06 |
Incidental Mutation