Incidental Mutation 'IGL01016:Il7r'
| ID |
54000 |
| 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 # |
IGL01016
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
9505874-9530262 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 9510294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 253
(V253E)
|
| 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: V253E
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000003981
Gene: ENSMUSG00000003882
AA Change: V253E
| 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 damaging
Transcript: ENSMUST00000228782
AA Change: V253E
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdh20 |
G |
A |
1: 110,036,686 (GRCm39) |
|
probably null |
Het |
| Dennd1c |
T |
C |
17: 57,373,839 (GRCm39) |
I575V |
probably damaging |
Het |
| Focad |
G |
A |
4: 88,310,252 (GRCm39) |
V1394I |
possibly damaging |
Het |
| Gldc |
G |
A |
19: 30,110,893 (GRCm39) |
S570F |
possibly damaging |
Het |
| Gm12695 |
T |
A |
4: 96,646,184 (GRCm39) |
Y286F |
probably benign |
Het |
| Grid1 |
C |
T |
14: 34,544,596 (GRCm39) |
Q56* |
probably null |
Het |
| Iqgap3 |
T |
C |
3: 88,014,867 (GRCm39) |
L861P |
probably damaging |
Het |
| Kcnc3 |
C |
T |
7: 44,244,810 (GRCm39) |
R367W |
probably damaging |
Het |
| Lipt1 |
T |
C |
1: 37,914,264 (GRCm39) |
Y107H |
probably damaging |
Het |
| Mep1a |
T |
C |
17: 43,789,975 (GRCm39) |
E445G |
probably benign |
Het |
| Mpo |
A |
G |
11: 87,688,436 (GRCm39) |
|
probably null |
Het |
| Nme5 |
T |
C |
18: 34,711,712 (GRCm39) |
|
probably null |
Het |
| Or52n2 |
A |
T |
7: 104,542,243 (GRCm39) |
N197K |
probably damaging |
Het |
| Or8b54 |
T |
A |
9: 38,686,737 (GRCm39) |
F62Y |
probably damaging |
Het |
| Or8s8 |
T |
A |
15: 98,354,186 (GRCm39) |
|
probably benign |
Het |
| Papolg |
A |
T |
11: 23,835,570 (GRCm39) |
N83K |
possibly damaging |
Het |
| Picalm |
A |
T |
7: 89,810,526 (GRCm39) |
D111V |
probably damaging |
Het |
| Ppargc1a |
T |
A |
5: 51,655,373 (GRCm39) |
|
probably null |
Het |
| Rnh1 |
G |
T |
7: 140,744,409 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1 |
T |
C |
14: 52,383,293 (GRCm39) |
Y576H |
probably damaging |
Het |
| Sobp |
T |
A |
10: 42,898,874 (GRCm39) |
Y237F |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,140,711 (GRCm39) |
Y637H |
probably damaging |
Het |
| St18 |
G |
T |
1: 6,914,547 (GRCm39) |
G797V |
probably damaging |
Het |
| Tbx20 |
T |
C |
9: 24,661,617 (GRCm39) |
D293G |
probably damaging |
Het |
| Tcl1b1 |
A |
T |
12: 105,130,663 (GRCm39) |
R49* |
probably null |
Het |
| Tnfsf13b |
A |
G |
8: 10,081,612 (GRCm39) |
Q258R |
probably damaging |
Het |
| Vmn1r223 |
A |
T |
13: 23,434,237 (GRCm39) |
Y277F |
probably damaging |
Het |
| Wdr62 |
T |
C |
7: 29,953,676 (GRCm39) |
T146A |
probably benign |
Het |
| Zfp236 |
G |
A |
18: 82,686,815 (GRCm39) |
A241V |
probably benign |
Het |
| Zfp318 |
T |
C |
17: 46,711,003 (GRCm39) |
S909P |
probably damaging |
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 |
|
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 |
2013-06-28 |
Incidental Mutation