Incidental Mutation 'IGL02383:Il4ra'
| ID |
291451 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Il4ra
|
| Ensembl Gene |
ENSMUSG00000030748 |
| Gene Name |
interleukin 4 receptor, alpha |
| Synonyms |
IL-4 receptor alpha chain, CD124, Il4r |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL02383
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
125151443-125178646 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125170676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 196
(V196A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145824
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033004]
[ENSMUST00000205985]
[ENSMUST00000206217]
[ENSMUST00000206846]
|
| AlphaFold |
P16382 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033004
AA Change: V196A
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000033004
Gene: ENSMUSG00000030748
AA Change: V196A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IL4Ra_N
|
28 |
122 |
9.9e-39 |
PFAM |
|
FN3
|
124 |
211 |
3.14e0 |
SMART |
|
low complexity region
|
369 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
574 |
N/A |
INTRINSIC |
|
low complexity region
|
617 |
630 |
N/A |
INTRINSIC |
|
low complexity region
|
635 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
683 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205394
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205985
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206217
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206681
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206846
AA Change: V196A
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| 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 the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Polymorphisms in this gene are also associated with resistance to human immunodeficiency virus type-1 infection. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
PHENOTYPE: Nullizygous mice exhibit reduced T helper 2 cell response to N. brasiliensis infection. Homozygotes for a null allele also display severe susceptibility to S. mansoni infection, enhanced carcinogen-induced intestinal tumour initiation, and altered control of chronic Leishmania major infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530400C23Rik |
T |
C |
6: 133,269,205 (GRCm39) |
|
probably benign |
Het |
| Adap2 |
C |
A |
11: 80,051,015 (GRCm39) |
A115D |
probably damaging |
Het |
| Ankrd1 |
A |
G |
19: 36,097,165 (GRCm39) |
V6A |
probably benign |
Het |
| Apobr |
T |
A |
7: 126,185,779 (GRCm39) |
V430E |
probably benign |
Het |
| Arhgap28 |
A |
G |
17: 68,203,084 (GRCm39) |
V123A |
probably benign |
Het |
| Atp2b2 |
A |
G |
6: 113,790,903 (GRCm39) |
V167A |
probably damaging |
Het |
| B3galnt2 |
A |
T |
13: 14,171,618 (GRCm39) |
*505C |
probably null |
Het |
| Bcat2 |
T |
A |
7: 45,237,431 (GRCm39) |
L305Q |
probably damaging |
Het |
| Coa8 |
T |
A |
12: 111,690,847 (GRCm39) |
|
probably benign |
Het |
| Col9a1 |
T |
C |
1: 24,224,339 (GRCm39) |
S174P |
unknown |
Het |
| Ddx41 |
A |
T |
13: 55,680,170 (GRCm39) |
D418E |
probably benign |
Het |
| Defa40 |
A |
G |
8: 21,740,377 (GRCm39) |
D61G |
probably damaging |
Het |
| Exoc6 |
T |
C |
19: 37,566,922 (GRCm39) |
F240L |
probably benign |
Het |
| Fbln7 |
G |
A |
2: 128,737,477 (GRCm39) |
V431I |
probably benign |
Het |
| Gfral |
T |
A |
9: 76,104,374 (GRCm39) |
N213Y |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,706,562 (GRCm39) |
D22G |
probably benign |
Het |
| H2-M1 |
G |
A |
17: 36,981,141 (GRCm39) |
T298I |
unknown |
Het |
| Haus3 |
A |
T |
5: 34,323,580 (GRCm39) |
Y343* |
probably null |
Het |
| Hid1 |
T |
C |
11: 115,243,446 (GRCm39) |
E534G |
probably damaging |
Het |
| Itm2b |
C |
A |
14: 73,600,536 (GRCm39) |
E255* |
probably null |
Het |
| Kidins220 |
A |
T |
12: 25,047,332 (GRCm39) |
|
probably benign |
Het |
| Klhl22 |
T |
A |
16: 17,594,762 (GRCm39) |
F297Y |
possibly damaging |
Het |
| Krt9 |
T |
C |
11: 100,082,041 (GRCm39) |
E253G |
probably damaging |
Het |
| Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
| Map3k6 |
T |
A |
4: 132,973,932 (GRCm39) |
|
probably null |
Het |
| Med29 |
C |
A |
7: 28,086,448 (GRCm39) |
R120L |
possibly damaging |
Het |
| Napa |
C |
T |
7: 15,846,503 (GRCm39) |
|
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,961,624 (GRCm39) |
Y351N |
probably benign |
Het |
| Nphs1 |
C |
T |
7: 30,181,060 (GRCm39) |
|
probably benign |
Het |
| Or5b94 |
A |
G |
19: 12,651,899 (GRCm39) |
D110G |
probably benign |
Het |
| Prss16 |
T |
C |
13: 22,193,697 (GRCm39) |
I33V |
probably benign |
Het |
| Ripk1 |
A |
G |
13: 34,199,227 (GRCm39) |
Y193C |
probably damaging |
Het |
| Rph3a |
C |
T |
5: 121,102,002 (GRCm39) |
R78H |
probably damaging |
Het |
| Rrp9 |
T |
A |
9: 106,362,471 (GRCm39) |
I452N |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,737,607 (GRCm39) |
|
probably benign |
Het |
| Sec23a |
A |
G |
12: 59,048,813 (GRCm39) |
L103P |
probably damaging |
Het |
| Slc17a9 |
A |
C |
2: 180,377,674 (GRCm39) |
D190A |
probably benign |
Het |
| Slc44a4 |
G |
A |
17: 35,146,686 (GRCm39) |
V422I |
probably benign |
Het |
| Smc5 |
C |
T |
19: 23,191,996 (GRCm39) |
|
probably benign |
Het |
| Tax1bp1 |
C |
T |
6: 52,730,351 (GRCm39) |
S611F |
probably benign |
Het |
| Tmem38b |
G |
A |
4: 53,854,345 (GRCm39) |
M192I |
probably benign |
Het |
| Unc45a |
G |
T |
7: 79,989,410 (GRCm39) |
C34* |
probably null |
Het |
| Usp46 |
T |
A |
5: 74,190,014 (GRCm39) |
M6L |
probably benign |
Het |
| Uspl1 |
G |
A |
5: 149,150,212 (GRCm39) |
V471M |
probably damaging |
Het |
| Vmn1r35 |
T |
A |
6: 66,655,875 (GRCm39) |
Q265L |
probably damaging |
Het |
| Vmn1r35 |
G |
T |
6: 66,655,876 (GRCm39) |
Q265K |
probably damaging |
Het |
| Vmn1r50 |
A |
G |
6: 90,084,461 (GRCm39) |
I69V |
possibly damaging |
Het |
| Vps33b |
A |
G |
7: 79,935,082 (GRCm39) |
|
probably null |
Het |
| Xntrpc |
A |
C |
7: 101,742,802 (GRCm39) |
D604A |
probably damaging |
Het |
| Yeats4 |
T |
A |
10: 117,051,716 (GRCm39) |
R180S |
probably benign |
Het |
|
| Other mutations in Il4ra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00940:Il4ra
|
APN |
7 |
125,168,347 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01067:Il4ra
|
APN |
7 |
125,174,333 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01107:Il4ra
|
APN |
7 |
125,175,086 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02224:Il4ra
|
APN |
7 |
125,169,271 (GRCm39) |
splice site |
probably benign |
|
|
IGL02249:Il4ra
|
APN |
7 |
125,166,396 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02614:Il4ra
|
APN |
7 |
125,174,962 (GRCm39) |
nonsense |
probably null |
|
|
IGL02879:Il4ra
|
APN |
7 |
125,176,069 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Haile
|
UTSW |
7 |
125,173,889 (GRCm39) |
critical splice donor site |
probably null |
|
|
Lowe
|
UTSW |
7 |
125,166,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB006:Il4ra
|
UTSW |
7 |
125,174,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB016:Il4ra
|
UTSW |
7 |
125,174,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02991:Il4ra
|
UTSW |
7 |
125,174,833 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
PIT4418001:Il4ra
|
UTSW |
7 |
125,175,510 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0066:Il4ra
|
UTSW |
7 |
125,175,403 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0127:Il4ra
|
UTSW |
7 |
125,168,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0148:Il4ra
|
UTSW |
7 |
125,174,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Il4ra
|
UTSW |
7 |
125,174,371 (GRCm39) |
splice site |
probably benign |
|
|
R0239:Il4ra
|
UTSW |
7 |
125,174,371 (GRCm39) |
splice site |
probably benign |
|
|
R0884:Il4ra
|
UTSW |
7 |
125,173,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1102:Il4ra
|
UTSW |
7 |
125,173,889 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1622:Il4ra
|
UTSW |
7 |
125,169,225 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1773:Il4ra
|
UTSW |
7 |
125,166,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4510:Il4ra
|
UTSW |
7 |
125,175,280 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4511:Il4ra
|
UTSW |
7 |
125,175,280 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4612:Il4ra
|
UTSW |
7 |
125,175,255 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5865:Il4ra
|
UTSW |
7 |
125,174,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5996:Il4ra
|
UTSW |
7 |
125,166,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6057:Il4ra
|
UTSW |
7 |
125,170,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6246:Il4ra
|
UTSW |
7 |
125,175,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7218:Il4ra
|
UTSW |
7 |
125,174,950 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7624:Il4ra
|
UTSW |
7 |
125,168,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7904:Il4ra
|
UTSW |
7 |
125,164,845 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7929:Il4ra
|
UTSW |
7 |
125,174,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8360:Il4ra
|
UTSW |
7 |
125,169,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9573:Il4ra
|
UTSW |
7 |
125,169,158 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2015-04-16 |
Incidental Mutation