Incidental Mutation 'R1017:Irak3'
| ID |
96466 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irak3
|
| Ensembl Gene |
ENSMUSG00000020227 |
| Gene Name |
interleukin-1 receptor-associated kinase 3 |
| Synonyms |
IRAK-M, 4833428C18Rik |
| MMRRC Submission |
039121-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.530)
|
| Stock # |
R1017 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
119977553-120038035 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119978789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 554
(E554G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020448
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020448]
[ENSMUST00000135106]
[ENSMUST00000145665]
|
| AlphaFold |
Q8K4B2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020448
AA Change: E554G
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020448
Gene: ENSMUSG00000020227
AA Change: E554G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Death
|
26 |
106 |
1.3e-15 |
PFAM |
|
Pfam:Pkinase
|
178 |
456 |
8.4e-37 |
PFAM |
|
Pfam:Pkinase_Tyr
|
178 |
456 |
2e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135106
|
| SMART Domains |
Protein: ENSMUSP00000123604
Gene: ENSMUSG00000020227
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Death
|
26 |
106 |
2.2e-16 |
PFAM |
|
Pfam:Pkinase_Tyr
|
178 |
301 |
3.1e-15 |
PFAM |
|
Pfam:Pkinase
|
178 |
302 |
4.9e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000145665
AA Change: E462G
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000118038
Gene: ENSMUSG00000020227
AA Change: E462G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
86 |
364 |
8.4e-35 |
PFAM |
|
Pfam:Pkinase_Tyr
|
86 |
364 |
1.7e-34 |
PFAM |
|
| Meta Mutation Damage Score |
0.0704 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.8%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the interleukin-1 receptor-associated kinase protein family. Members of this family are essential components of the Toll/IL-R immune signal transduction pathways. This protein is primarily expressed in monocytes and macrophages and functions as a negative regulator of Toll-like receptor signaling. Mutations in this gene are associated with a susceptibility to asthma. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormal inflammatory responses to bacterial infections and loose bone mass with age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
C |
T |
6: 125,038,223 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,987,907 (GRCm39) |
I3064F |
probably damaging |
Het |
| Arhgef10l |
C |
A |
4: 140,242,617 (GRCm39) |
R884L |
probably damaging |
Het |
| Baiap2l2 |
A |
G |
15: 79,145,443 (GRCm39) |
F317L |
probably benign |
Het |
| Brinp2 |
A |
T |
1: 158,077,021 (GRCm39) |
I358N |
probably damaging |
Het |
| Ccin |
A |
G |
4: 43,985,222 (GRCm39) |
D543G |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,167,572 (GRCm39) |
D1806V |
probably damaging |
Het |
| Cdh6 |
C |
T |
15: 13,051,562 (GRCm39) |
R357Q |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,293,797 (GRCm39) |
M64V |
possibly damaging |
Het |
| Ctnnb1 |
T |
A |
9: 120,779,794 (GRCm39) |
F74I |
probably damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,272,307 (GRCm39) |
I302N |
probably damaging |
Het |
| Dnase1l2 |
C |
T |
17: 24,661,446 (GRCm39) |
A56T |
probably benign |
Het |
| Dscam |
T |
A |
16: 96,634,633 (GRCm39) |
D190V |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,891,398 (GRCm39) |
|
probably null |
Het |
| Fscb |
T |
A |
12: 64,520,242 (GRCm39) |
D408V |
probably benign |
Het |
| Gm10306 |
A |
G |
4: 94,444,957 (GRCm39) |
|
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,765,803 (GRCm39) |
M409K |
probably benign |
Het |
| Gsx2 |
T |
C |
5: 75,237,923 (GRCm39) |
S292P |
probably damaging |
Het |
| Hira |
T |
A |
16: 18,718,097 (GRCm39) |
|
probably null |
Het |
| Hoxa3 |
G |
T |
6: 52,149,386 (GRCm39) |
|
probably null |
Het |
| Itgb3bp |
A |
G |
4: 99,657,724 (GRCm39) |
|
probably benign |
Het |
| Kifc3 |
C |
T |
8: 95,832,413 (GRCm39) |
D379N |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,837,213 (GRCm39) |
V1032A |
probably damaging |
Het |
| Lmln |
T |
G |
16: 32,908,546 (GRCm39) |
I324R |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,005,501 (GRCm39) |
S1547P |
possibly damaging |
Het |
| Mdga1 |
T |
A |
17: 30,069,522 (GRCm39) |
T175S |
probably damaging |
Het |
| Mrps6 |
T |
A |
16: 91,855,346 (GRCm39) |
L8* |
probably null |
Het |
| Mtmr11 |
A |
C |
3: 96,071,794 (GRCm39) |
T203P |
probably damaging |
Het |
| Nat8f7 |
T |
C |
6: 85,684,552 (GRCm39) |
D96G |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,889,179 (GRCm39) |
E7531G |
unknown |
Het |
| Or2k2 |
A |
T |
4: 58,785,115 (GRCm39) |
S202R |
probably damaging |
Het |
| Or8k25 |
A |
T |
2: 86,243,855 (GRCm39) |
D180E |
probably damaging |
Het |
| Or8k27 |
A |
T |
2: 86,275,772 (GRCm39) |
L185I |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,380,063 (GRCm39) |
Y69C |
probably damaging |
Het |
| Polrmt |
C |
T |
10: 79,579,343 (GRCm39) |
W136* |
probably null |
Het |
| Raver1 |
T |
C |
9: 20,990,886 (GRCm39) |
|
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rsl1d1 |
T |
C |
16: 11,021,116 (GRCm39) |
K2E |
probably benign |
Het |
| Sik3 |
C |
T |
9: 46,107,107 (GRCm39) |
T417I |
probably benign |
Het |
| Spdl1 |
T |
C |
11: 34,710,117 (GRCm39) |
K388R |
possibly damaging |
Het |
| Tulp1 |
T |
C |
17: 28,583,277 (GRCm39) |
R88G |
probably damaging |
Het |
| Vldlr |
A |
C |
19: 27,218,733 (GRCm39) |
Y528S |
probably damaging |
Het |
| Zdhhc14 |
T |
A |
17: 5,543,924 (GRCm39) |
L68H |
probably damaging |
Het |
| Zfp605 |
C |
T |
5: 110,275,860 (GRCm39) |
T326I |
probably benign |
Het |
|
| Other mutations in Irak3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Irak3
|
APN |
10 |
120,013,972 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01015:Irak3
|
APN |
10 |
119,978,695 (GRCm39) |
nonsense |
probably null |
|
|
IGL01530:Irak3
|
APN |
10 |
119,978,699 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01641:Irak3
|
APN |
10 |
120,012,252 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL01730:Irak3
|
APN |
10 |
120,014,005 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02054:Irak3
|
APN |
10 |
120,012,164 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02938:Irak3
|
APN |
10 |
120,018,429 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02954:Irak3
|
APN |
10 |
120,012,147 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02992:Irak3
|
APN |
10 |
120,018,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03376:Irak3
|
APN |
10 |
119,982,541 (GRCm39) |
splice site |
probably benign |
|
|
iracema
|
UTSW |
10 |
119,981,687 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0031:Irak3
|
UTSW |
10 |
120,012,225 (GRCm39) |
nonsense |
probably null |
|
|
R0734:Irak3
|
UTSW |
10 |
119,981,542 (GRCm39) |
splice site |
probably benign |
|
|
R1025:Irak3
|
UTSW |
10 |
120,012,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1486:Irak3
|
UTSW |
10 |
119,978,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1538:Irak3
|
UTSW |
10 |
120,001,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1596:Irak3
|
UTSW |
10 |
120,018,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1689:Irak3
|
UTSW |
10 |
119,982,457 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2133:Irak3
|
UTSW |
10 |
120,001,082 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3609:Irak3
|
UTSW |
10 |
119,981,582 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3947:Irak3
|
UTSW |
10 |
120,006,278 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3948:Irak3
|
UTSW |
10 |
120,006,278 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4510:Irak3
|
UTSW |
10 |
119,981,813 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4511:Irak3
|
UTSW |
10 |
119,981,813 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4885:Irak3
|
UTSW |
10 |
120,018,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5007:Irak3
|
UTSW |
10 |
119,982,334 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5180:Irak3
|
UTSW |
10 |
119,981,687 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5704:Irak3
|
UTSW |
10 |
119,981,594 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5715:Irak3
|
UTSW |
10 |
119,978,641 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6020:Irak3
|
UTSW |
10 |
119,979,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6916:Irak3
|
UTSW |
10 |
120,037,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7182:Irak3
|
UTSW |
10 |
120,002,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7707:Irak3
|
UTSW |
10 |
119,982,489 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7787:Irak3
|
UTSW |
10 |
120,012,256 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8087:Irak3
|
UTSW |
10 |
120,018,440 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8673:Irak3
|
UTSW |
10 |
119,982,493 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
X0023:Irak3
|
UTSW |
10 |
119,979,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCTCAGTGCCTTCAGTGACG -3'
(R):5'- AGCACCCAGCCTAGCTTGTATTTTG -3'
Sequencing Primer
(F):5'- GCCTTCAGTGACGTTTGC -3'
(R):5'- GTCCCAAGTATTCCAGTAGAAGATG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation