Incidental Mutation 'R3948:Irak3'
| ID |
307791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irak3
|
| Ensembl Gene |
ENSMUSG00000020227 |
| Gene Name |
interleukin-1 receptor-associated kinase 3 |
| Synonyms |
IRAK-M, 4833428C18Rik |
| MMRRC Submission |
040928-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.530)
|
| Stock # |
R3948 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
119977553-120038035 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120006278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 213
(M213L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020448
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020448]
[ENSMUST00000135106]
[ENSMUST00000145665]
|
| AlphaFold |
Q8K4B2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020448
AA Change: M213L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000020448
Gene: ENSMUSG00000020227
AA Change: M213L
| 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
AA Change: M213L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000123604
Gene: ENSMUSG00000020227
AA Change: M213L
| 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 |
noncoding transcript
Transcript: ENSMUST00000140237
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143100
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145665
AA Change: M121L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118038
Gene: ENSMUSG00000020227
AA Change: M121L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
86 |
364 |
8.4e-35 |
PFAM |
|
Pfam:Pkinase_Tyr
|
86 |
364 |
1.7e-34 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220425
|
| Meta Mutation Damage Score |
0.0628 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
100% (35/35) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat1 |
A |
G |
4: 49,447,477 (GRCm39) |
L368P |
possibly damaging |
Het |
| Adgrg4 |
C |
T |
X: 55,963,114 (GRCm39) |
T1561I |
probably benign |
Het |
| Ankrd50 |
A |
G |
3: 38,536,990 (GRCm39) |
L121S |
possibly damaging |
Het |
| Arfgef1 |
CAGAG |
CAG |
1: 10,212,811 (GRCm39) |
|
probably null |
Het |
| Avil |
A |
G |
10: 126,850,074 (GRCm39) |
S642G |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,705,650 (GRCm39) |
|
probably null |
Het |
| Dhx15 |
T |
C |
5: 52,318,922 (GRCm39) |
|
probably benign |
Het |
| Disc1 |
A |
G |
8: 125,814,874 (GRCm39) |
E246G |
probably damaging |
Het |
| Dyrk4 |
A |
G |
6: 126,862,268 (GRCm39) |
I408T |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,662,615 (GRCm39) |
|
probably benign |
Het |
| H2-T24 |
T |
C |
17: 36,328,264 (GRCm39) |
Y73C |
probably damaging |
Het |
| Hal |
T |
C |
10: 93,325,769 (GRCm39) |
I94T |
possibly damaging |
Het |
| Iqsec3 |
A |
T |
6: 121,364,783 (GRCm39) |
Y835* |
probably null |
Het |
| Kcnj2 |
A |
G |
11: 110,963,481 (GRCm39) |
D291G |
possibly damaging |
Het |
| Krtap13 |
A |
G |
16: 88,547,957 (GRCm39) |
L177P |
possibly damaging |
Het |
| Mios |
A |
G |
6: 8,215,496 (GRCm39) |
T231A |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Odr4 |
A |
T |
1: 150,264,308 (GRCm39) |
L67* |
probably null |
Het |
| Or4c122 |
A |
G |
2: 89,079,336 (GRCm39) |
F234S |
possibly damaging |
Het |
| Pramel30 |
A |
C |
4: 144,057,876 (GRCm39) |
Q161P |
probably benign |
Het |
| Ralgapa1 |
C |
A |
12: 55,745,552 (GRCm39) |
V1268F |
probably damaging |
Het |
| Rev1 |
A |
T |
1: 38,113,414 (GRCm39) |
M551K |
possibly damaging |
Het |
| Serpinb9c |
A |
C |
13: 33,334,077 (GRCm39) |
C322G |
probably benign |
Het |
| Slc28a3 |
C |
T |
13: 58,710,824 (GRCm39) |
|
probably null |
Het |
| Slc35e4 |
A |
T |
11: 3,862,970 (GRCm39) |
V73E |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,289,082 (GRCm39) |
D88G |
probably damaging |
Het |
| Trim5 |
G |
A |
7: 103,915,727 (GRCm39) |
Q273* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,867,910 (GRCm39) |
T1974M |
probably damaging |
Het |
| Wdr25 |
T |
A |
12: 108,993,208 (GRCm39) |
C475S |
probably benign |
Het |
| Zfp202 |
C |
A |
9: 40,119,721 (GRCm39) |
H175N |
probably benign |
Het |
| Zfp248 |
TTAAATTCAT |
TT |
6: 118,407,155 (GRCm39) |
|
probably null |
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 |
|
|
R1017:Irak3
|
UTSW |
10 |
119,978,789 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
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'- TGCACTTTAAGGAGAACACCAAAG -3'
(R):5'- TTCAGGGGAACGTTCTACTGAAG -3'
Sequencing Primer
(F):5'- CTTTAAGGAGAACACCAAAGCAGATG -3'
(R):5'- ACGTTCTACTGAAGAGTAATGGTTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation