Incidental Mutation 'R0830:Irak1'
| ID |
77512 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irak1
|
| Ensembl Gene |
ENSMUSG00000031392 |
| Gene Name |
interleukin-1 receptor-associated kinase 1 |
| Synonyms |
Il1rak, IRAK-1, Plpk, mPLK |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0830 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
X |
| Chromosomal Location |
73057520-73067524 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73060189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 679
(D679G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110000
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033769]
[ENSMUST00000068286]
[ENSMUST00000101458]
[ENSMUST00000114352]
[ENSMUST00000114353]
[ENSMUST00000114354]
[ENSMUST00000114360]
[ENSMUST00000128436]
[ENSMUST00000126583]
|
| AlphaFold |
Q62406 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033769
AA Change: D719G
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000033769
Gene: ENSMUSG00000031392
AA Change: D719G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:Death
|
28 |
103 |
3e-14 |
PFAM |
|
low complexity region
|
104 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
189 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
213 |
518 |
5.5e-36 |
PFAM |
|
Pfam:Pkinase
|
213 |
522 |
4.2e-40 |
PFAM |
|
low complexity region
|
607 |
616 |
N/A |
INTRINSIC |
|
low complexity region
|
680 |
694 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068286
AA Change: D679G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000064448
Gene: ENSMUSG00000031392
AA Change: D679G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:Death
|
28 |
103 |
4.4e-13 |
PFAM |
|
low complexity region
|
104 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
188 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
212 |
518 |
5.1e-41 |
PFAM |
|
Pfam:Pkinase_Tyr
|
212 |
518 |
6.3e-37 |
PFAM |
|
low complexity region
|
567 |
576 |
N/A |
INTRINSIC |
|
low complexity region
|
640 |
654 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101458
AA Change: D652G
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099001
Gene: ENSMUSG00000031392
AA Change: D652G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:Death
|
28 |
103 |
4.1e-13 |
PFAM |
|
low complexity region
|
104 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
188 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
212 |
516 |
1.3e-40 |
PFAM |
|
Pfam:Pkinase_Tyr
|
212 |
517 |
1.9e-36 |
PFAM |
|
low complexity region
|
540 |
549 |
N/A |
INTRINSIC |
|
low complexity region
|
613 |
627 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114352
AA Change: D679G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109992
Gene: ENSMUSG00000031392
AA Change: D679G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:Death
|
28 |
103 |
4.4e-13 |
PFAM |
|
low complexity region
|
104 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
188 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
212 |
518 |
5.1e-41 |
PFAM |
|
Pfam:Pkinase_Tyr
|
212 |
518 |
6.3e-37 |
PFAM |
|
low complexity region
|
567 |
576 |
N/A |
INTRINSIC |
|
low complexity region
|
640 |
654 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114353
AA Change: D600G
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109993
Gene: ENSMUSG00000031392
AA Change: D600G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:Death
|
28 |
103 |
1e-10 |
PFAM |
|
low complexity region
|
104 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
188 |
N/A |
INTRINSIC |
|
S_TKc
|
212 |
537 |
6.6e-15 |
SMART |
|
low complexity region
|
561 |
575 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114354
AA Change: D680G
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109994
Gene: ENSMUSG00000031392
AA Change: D680G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:Death
|
28 |
103 |
1.5e-12 |
PFAM |
|
low complexity region
|
104 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
189 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
213 |
519 |
6e-41 |
PFAM |
|
Pfam:Pkinase_Tyr
|
213 |
519 |
7.4e-37 |
PFAM |
|
low complexity region
|
568 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
641 |
655 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114360
AA Change: D679G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110000
Gene: ENSMUSG00000031392
AA Change: D679G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Pfam:Death
|
28 |
103 |
4.4e-13 |
PFAM |
|
low complexity region
|
104 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
188 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
212 |
518 |
5.1e-41 |
PFAM |
|
Pfam:Pkinase_Tyr
|
212 |
518 |
6.3e-37 |
PFAM |
|
low complexity region
|
567 |
576 |
N/A |
INTRINSIC |
|
low complexity region
|
640 |
654 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000128436
AA Change: I132V
|
| SMART Domains |
Protein: ENSMUSP00000118570
Gene: ENSMUSG00000031392
AA Change: I132V
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qpca_
|
63 |
93 |
3e-3 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000138397
AA Change: D245G
|
| SMART Domains |
Protein: ENSMUSP00000121016
Gene: ENSMUSG00000031392
AA Change: D245G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
145 |
9.7e-18 |
PFAM |
|
Pfam:Pkinase_Tyr
|
2 |
125 |
2.5e-13 |
PFAM |
|
low complexity region
|
207 |
221 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149871
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140130
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148706
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132144
|
| SMART Domains |
Protein: ENSMUSP00000117042
Gene: ENSMUSG00000031392
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
53 |
N/A |
INTRINSIC |
|
SCOP:d1b6cb_
|
60 |
109 |
2e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148317
|
| SMART Domains |
Protein: ENSMUSP00000122519
Gene: ENSMUSG00000031392
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ir3a_
|
32 |
98 |
1e-6 |
SMART |
|
low complexity region
|
123 |
132 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126583
|
| SMART Domains |
Protein: ENSMUSP00000115508
Gene: ENSMUSG00000031392
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
261 |
1.7e-29 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
261 |
3.2e-31 |
PFAM |
|
low complexity region
|
310 |
319 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.0%
- 20x: 90.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the interleukin-1 receptor-associated kinase 1, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. This gene is partially responsible for IL1-induced upregulation of the transcription factor NF-kappa B. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. Cytokine production and response to endotoxin are attenuated however. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
C |
T |
1: 183,765,624 (GRCm39) |
R145H |
probably damaging |
Het |
| Adam26a |
C |
T |
8: 44,021,439 (GRCm39) |
V684I |
probably benign |
Het |
| Alk |
T |
C |
17: 72,910,195 (GRCm39) |
I170M |
probably benign |
Het |
| Apc2 |
T |
C |
10: 80,151,239 (GRCm39) |
Y2069H |
probably damaging |
Het |
| Aspm |
A |
G |
1: 139,401,992 (GRCm39) |
T1219A |
probably damaging |
Het |
| Bnip1 |
T |
C |
17: 27,008,679 (GRCm39) |
S94P |
probably benign |
Het |
| Cftr |
A |
G |
6: 18,270,224 (GRCm39) |
I805V |
probably benign |
Het |
| Col25a1 |
T |
A |
3: 130,378,375 (GRCm39) |
D609E |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,276,669 (GRCm39) |
V2771E |
unknown |
Het |
| Cyp2g1 |
A |
G |
7: 26,514,216 (GRCm39) |
K274R |
probably benign |
Het |
| D5Ertd579e |
G |
A |
5: 36,771,101 (GRCm39) |
T1098I |
probably damaging |
Het |
| Ddx39a |
T |
A |
8: 84,446,452 (GRCm39) |
C74S |
possibly damaging |
Het |
| E2f3 |
C |
T |
13: 30,169,543 (GRCm39) |
A37T |
probably benign |
Het |
| Emilin2 |
A |
G |
17: 71,580,815 (GRCm39) |
M637T |
probably benign |
Het |
| Exosc7 |
T |
C |
9: 122,948,358 (GRCm39) |
L93P |
probably benign |
Het |
| F2 |
T |
C |
2: 91,460,545 (GRCm39) |
E316G |
probably benign |
Het |
| Fat4 |
A |
C |
3: 39,053,258 (GRCm39) |
Q4084P |
probably benign |
Het |
| Flywch1 |
T |
C |
17: 23,981,344 (GRCm39) |
K160E |
probably benign |
Het |
| Foxi2 |
A |
G |
7: 135,013,459 (GRCm39) |
T230A |
probably benign |
Het |
| Fthl17a |
A |
G |
X: 84,313,679 (GRCm39) |
N154S |
possibly damaging |
Het |
| Hykk |
G |
A |
9: 54,844,601 (GRCm39) |
R222Q |
probably damaging |
Het |
| Il18rap |
T |
A |
1: 40,582,150 (GRCm39) |
V357E |
probably damaging |
Het |
| Ing4 |
A |
G |
6: 125,020,923 (GRCm39) |
E15G |
probably damaging |
Het |
| Itga1 |
T |
C |
13: 115,143,568 (GRCm39) |
E321G |
probably benign |
Het |
| Nudt1 |
T |
A |
5: 140,321,076 (GRCm39) |
|
probably null |
Het |
| Nup58 |
A |
G |
14: 60,480,931 (GRCm39) |
F138S |
probably damaging |
Het |
| Or10al6 |
A |
T |
17: 38,082,804 (GRCm39) |
M87L |
probably damaging |
Het |
| Or2a5 |
G |
T |
6: 42,873,532 (GRCm39) |
W49L |
probably benign |
Het |
| Pllp |
T |
C |
8: 95,406,103 (GRCm39) |
Y60C |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,887,267 (GRCm39) |
V37A |
probably damaging |
Het |
| Poglut3 |
T |
G |
9: 53,302,011 (GRCm39) |
L32R |
probably damaging |
Het |
| Psme4 |
A |
G |
11: 30,757,797 (GRCm39) |
H310R |
possibly damaging |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Sash1 |
C |
T |
10: 8,605,673 (GRCm39) |
V906M |
probably benign |
Het |
| Scn1a |
A |
T |
2: 66,130,128 (GRCm39) |
I1212K |
probably damaging |
Het |
| Stbd1 |
A |
T |
5: 92,752,989 (GRCm39) |
S160C |
probably benign |
Het |
| Tex29 |
T |
C |
8: 11,904,157 (GRCm39) |
V99A |
probably benign |
Het |
| Tg |
A |
T |
15: 66,596,993 (GRCm39) |
N79I |
probably damaging |
Het |
| Tie1 |
T |
C |
4: 118,339,860 (GRCm39) |
D389G |
probably damaging |
Het |
| Vmn1r178 |
A |
G |
7: 23,593,452 (GRCm39) |
T167A |
possibly damaging |
Het |
| Xkr4 |
C |
T |
1: 3,740,968 (GRCm39) |
G202S |
possibly damaging |
Het |
|
| Other mutations in Irak1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R2114:Irak1
|
UTSW |
X |
73,066,218 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2115:Irak1
|
UTSW |
X |
73,066,218 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2117:Irak1
|
UTSW |
X |
73,066,218 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2202:Irak1
|
UTSW |
X |
73,060,744 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2205:Irak1
|
UTSW |
X |
73,060,744 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4679:Irak1
|
UTSW |
X |
73,065,995 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTATGCCTGTATGCCCTGGAGCTG -3'
(R):5'- TCTGGAGGCTAGAGTGTCACTCAAG -3'
Sequencing Primer
(F):5'- TATCCACAGGTACCTGGGAA -3'
(R):5'- CATCCCTGCTGTCATCAGAA -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation