Incidental Mutation 'R7548:Nlrp4a'
| ID |
584313 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp4a
|
| Ensembl Gene |
ENSMUSG00000040601 |
| Gene Name |
NLR family, pyrin domain containing 4A |
| Synonyms |
E330028A19Rik, Nalp-eta, Nalp4a |
| MMRRC Submission |
045619-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R7548 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
26435113-26476142 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 26450179 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 404
(E404K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068767]
[ENSMUST00000119386]
[ENSMUST00000146907]
|
| AlphaFold |
Q8BU40 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068767
AA Change: E404K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601
AA Change: E404K
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
89 |
6.48e-34 |
SMART |
|
Pfam:NACHT
|
148 |
317 |
4.9e-37 |
PFAM |
|
Blast:LRR
|
634 |
661 |
4e-6 |
BLAST |
|
low complexity region
|
666 |
677 |
N/A |
INTRINSIC |
|
LRR
|
689 |
716 |
5.96e0 |
SMART |
|
LRR
|
718 |
745 |
1.99e1 |
SMART |
|
LRR
|
746 |
772 |
1.02e0 |
SMART |
|
LRR
|
774 |
801 |
4.66e1 |
SMART |
|
LRR
|
802 |
829 |
1.18e-2 |
SMART |
|
LRR
|
831 |
858 |
2.2e-2 |
SMART |
|
LRR
|
859 |
886 |
5.59e-4 |
SMART |
|
LRR
|
888 |
915 |
9.41e0 |
SMART |
|
LRR
|
916 |
943 |
8.94e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119386
AA Change: E404K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112441
Gene: ENSMUSG00000040601
AA Change: E404K
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
89 |
6.48e-34 |
SMART |
|
Pfam:NACHT
|
148 |
317 |
1.3e-37 |
PFAM |
|
Blast:LRR
|
634 |
661 |
4e-6 |
BLAST |
|
low complexity region
|
666 |
677 |
N/A |
INTRINSIC |
|
LRR
|
689 |
716 |
5.96e0 |
SMART |
|
LRR
|
718 |
745 |
1.99e1 |
SMART |
|
LRR
|
746 |
772 |
1.02e0 |
SMART |
|
LRR
|
774 |
801 |
4.66e1 |
SMART |
|
LRR
|
802 |
829 |
1.18e-2 |
SMART |
|
LRR
|
831 |
858 |
2.2e-2 |
SMART |
|
LRR
|
859 |
886 |
5.59e-4 |
SMART |
|
LRR
|
888 |
915 |
9.41e0 |
SMART |
|
LRR
|
916 |
943 |
8.94e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146907
AA Change: E404K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
G |
A |
5: 114,877,998 (GRCm38) |
S146N |
possibly damaging |
Het |
| Acr |
T |
C |
15: 89,574,393 (GRCm38) |
S426P |
possibly damaging |
Het |
| Arhgap8 |
C |
A |
15: 84,757,058 (GRCm38) |
P175Q |
possibly damaging |
Het |
| Arl6ip1 |
A |
T |
7: 118,126,510 (GRCm38) |
I59N |
probably damaging |
Het |
| Atp2b4 |
A |
T |
1: 133,701,641 (GRCm38) |
*81K |
probably null |
Het |
| Atp8a1 |
T |
A |
5: 67,815,728 (GRCm38) |
R26* |
probably null |
Het |
| Atp8b4 |
T |
A |
2: 126,389,342 (GRCm38) |
Q453L |
probably benign |
Het |
| B4galt4 |
A |
G |
16: 38,754,066 (GRCm38) |
E134G |
probably damaging |
Het |
| Bcl9 |
G |
A |
3: 97,205,893 (GRCm38) |
T1082I |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,709,826 (GRCm38) |
F617L |
probably benign |
Het |
| Ccdc15 |
T |
C |
9: 37,277,427 (GRCm38) |
N800S |
probably benign |
Het |
| Cd300ld |
T |
C |
11: 114,987,422 (GRCm38) |
D88G |
probably benign |
Het |
| Ceacam2 |
A |
T |
7: 25,530,533 (GRCm38) |
V216E |
probably benign |
Het |
| Cecr2 |
T |
A |
6: 120,761,714 (GRCm38) |
M356K |
|
Het |
| Cenpm |
T |
C |
15: 82,244,679 (GRCm38) |
M1V |
probably null |
Het |
| Ces2e |
A |
G |
8: 104,931,906 (GRCm38) |
E401G |
probably benign |
Het |
| Cib3 |
C |
A |
8: 72,207,197 (GRCm38) |
L65F |
probably damaging |
Het |
| Clip4 |
C |
G |
17: 71,789,968 (GRCm38) |
T29R |
probably benign |
Het |
| Cnot7 |
A |
G |
8: 40,500,833 (GRCm38) |
I131T |
probably damaging |
Het |
| Cntn5 |
A |
T |
9: 9,673,410 (GRCm38) |
|
probably null |
Het |
| Col11a1 |
A |
C |
3: 114,123,760 (GRCm38) |
H732P |
unknown |
Het |
| Coq4 |
A |
T |
2: 29,795,408 (GRCm38) |
T145S |
possibly damaging |
Het |
| Cwf19l1 |
T |
C |
19: 44,110,550 (GRCm38) |
D527G |
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,986,925 (GRCm38) |
I303V |
probably damaging |
Het |
| Dab2 |
C |
T |
15: 6,429,918 (GRCm38) |
T437I |
possibly damaging |
Het |
| Dlc1 |
A |
G |
8: 36,584,655 (GRCm38) |
S190P |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 73,027,440 (GRCm38) |
L3847F |
probably damaging |
Het |
| Dnmbp |
T |
C |
19: 43,889,399 (GRCm38) |
E411G |
probably benign |
Het |
| Dpp8 |
T |
C |
9: 65,037,235 (GRCm38) |
Y95H |
probably damaging |
Het |
| Emb |
T |
A |
13: 117,272,054 (GRCm38) |
D310E |
possibly damaging |
Het |
| Eml4 |
C |
A |
17: 83,425,337 (GRCm38) |
Q140K |
probably benign |
Het |
| Epb41l3 |
T |
C |
17: 69,210,276 (GRCm38) |
S100P |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,981,114 (GRCm38) |
T2972S |
probably benign |
Het |
| Fignl2 |
T |
C |
15: 101,053,198 (GRCm38) |
E401G |
unknown |
Het |
| Fryl |
T |
A |
5: 73,191,762 (GRCm38) |
D19V |
unknown |
Het |
| Gck |
C |
T |
11: 5,902,040 (GRCm38) |
G16R |
|
Het |
| Gm3371 |
T |
C |
14: 44,410,688 (GRCm38) |
M1V |
probably null |
Het |
| Hlcs |
T |
A |
16: 94,133,017 (GRCm38) |
K661* |
probably null |
Het |
| Il17re |
C |
G |
6: 113,466,387 (GRCm38) |
P363A |
probably damaging |
Het |
| Kif24 |
C |
T |
4: 41,423,601 (GRCm38) |
E217K |
possibly damaging |
Het |
| Klhdc7b |
T |
C |
15: 89,388,704 (GRCm38) |
I605T |
probably damaging |
Het |
| Krt31 |
T |
C |
11: 100,049,520 (GRCm38) |
T170A |
probably damaging |
Het |
| Lgals3bp |
T |
C |
11: 118,396,843 (GRCm38) |
D126G |
probably benign |
Het |
| Lig1 |
T |
A |
7: 13,301,418 (GRCm38) |
F601Y |
possibly damaging |
Het |
| Lrp6 |
A |
G |
6: 134,507,508 (GRCm38) |
I384T |
probably damaging |
Het |
| Mfap5 |
A |
T |
6: 122,526,034 (GRCm38) |
T102S |
probably benign |
Het |
| Mfsd6 |
A |
G |
1: 52,663,287 (GRCm38) |
F600S |
possibly damaging |
Het |
| Nme3 |
T |
C |
17: 24,896,548 (GRCm38) |
L12P |
probably damaging |
Het |
| Nxpe5 |
A |
T |
5: 138,251,231 (GRCm38) |
T428S |
probably benign |
Het |
| Olfr1228 |
T |
C |
2: 89,249,086 (GRCm38) |
T191A |
probably benign |
Het |
| Olfr385 |
G |
A |
11: 73,588,976 (GRCm38) |
T254I |
possibly damaging |
Het |
| Psmc6 |
T |
C |
14: 45,334,918 (GRCm38) |
Y110H |
probably benign |
Het |
| Pthlh |
T |
A |
6: 147,257,155 (GRCm38) |
R102S |
possibly damaging |
Het |
| Ric8b |
G |
T |
10: 84,947,872 (GRCm38) |
S198I |
probably damaging |
Het |
| Rrp7a |
C |
A |
15: 83,117,670 (GRCm38) |
R212S |
possibly damaging |
Het |
| Rubcnl |
T |
C |
14: 75,042,352 (GRCm38) |
Y392H |
probably benign |
Het |
| Sag |
G |
A |
1: 87,844,916 (GRCm38) |
V369I |
probably benign |
Het |
| Sar1b |
A |
G |
11: 51,789,267 (GRCm38) |
E140G |
probably benign |
Het |
| Sema3d |
T |
A |
5: 12,577,816 (GRCm38) |
M658K |
unknown |
Het |
| Skor2 |
C |
T |
18: 76,860,905 (GRCm38) |
S774F |
possibly damaging |
Het |
| Slc1a6 |
G |
T |
10: 78,814,431 (GRCm38) |
R501L |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,716,654 (GRCm38) |
M539V |
probably benign |
Het |
| Spocd1 |
T |
C |
4: 129,929,809 (GRCm38) |
L133P |
|
Het |
| Sptlc1 |
A |
T |
13: 53,367,932 (GRCm38) |
N96K |
possibly damaging |
Het |
| Stox1 |
A |
T |
10: 62,666,167 (GRCm38) |
S205T |
probably damaging |
Het |
| Tec |
T |
C |
5: 72,760,350 (GRCm38) |
M509V |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,222,418 (GRCm38) |
|
probably benign |
Het |
| Ttc34 |
T |
A |
4: 154,856,359 (GRCm38) |
L499Q |
probably damaging |
Het |
| Uqcc1 |
A |
G |
2: 155,909,389 (GRCm38) |
C120R |
probably damaging |
Het |
| Usp39 |
C |
T |
6: 72,345,013 (GRCm38) |
S46N |
possibly damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,994,724 (GRCm38) |
E220G |
probably benign |
Het |
| Zfp287 |
A |
T |
11: 62,713,875 (GRCm38) |
C735* |
probably null |
Het |
|
| Other mutations in Nlrp4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00487:Nlrp4a
|
APN |
7 |
26,449,985 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
IGL00972:Nlrp4a
|
APN |
7 |
26,457,048 (GRCm38) |
missense |
probably benign |
|
|
IGL01081:Nlrp4a
|
APN |
7 |
26,449,829 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01788:Nlrp4a
|
APN |
7 |
26,454,067 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL02001:Nlrp4a
|
APN |
7 |
26,449,969 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02070:Nlrp4a
|
APN |
7 |
26,449,278 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02175:Nlrp4a
|
APN |
7 |
26,475,097 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02193:Nlrp4a
|
APN |
7 |
26,449,278 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02193:Nlrp4a
|
APN |
7 |
26,459,692 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02197:Nlrp4a
|
APN |
7 |
26,449,278 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02200:Nlrp4a
|
APN |
7 |
26,449,278 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02202:Nlrp4a
|
APN |
7 |
26,449,278 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02207:Nlrp4a
|
APN |
7 |
26,449,278 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02237:Nlrp4a
|
APN |
7 |
26,449,278 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02240:Nlrp4a
|
APN |
7 |
26,449,278 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02658:Nlrp4a
|
APN |
7 |
26,449,713 (GRCm38) |
missense |
probably benign |
0.43 |
|
IGL02743:Nlrp4a
|
APN |
7 |
26,459,815 (GRCm38) |
splice site |
probably benign |
|
|
IGL02960:Nlrp4a
|
APN |
7 |
26,449,730 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL03064:Nlrp4a
|
APN |
7 |
26,449,509 (GRCm38) |
missense |
probably benign |
0.23 |
|
IGL03276:Nlrp4a
|
APN |
7 |
26,464,190 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB002:Nlrp4a
|
UTSW |
7 |
26,450,586 (GRCm38) |
missense |
probably benign |
0.10 |
|
BB012:Nlrp4a
|
UTSW |
7 |
26,450,586 (GRCm38) |
missense |
probably benign |
0.10 |
|
D3080:Nlrp4a
|
UTSW |
7 |
26,444,341 (GRCm38) |
missense |
probably benign |
0.22 |
|
P0019:Nlrp4a
|
UTSW |
7 |
26,449,637 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0020:Nlrp4a
|
UTSW |
7 |
26,450,372 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0240:Nlrp4a
|
UTSW |
7 |
26,462,516 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0240:Nlrp4a
|
UTSW |
7 |
26,462,516 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0372:Nlrp4a
|
UTSW |
7 |
26,449,232 (GRCm38) |
splice site |
probably benign |
|
|
R0466:Nlrp4a
|
UTSW |
7 |
26,462,620 (GRCm38) |
splice site |
probably benign |
|
|
R0544:Nlrp4a
|
UTSW |
7 |
26,457,130 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1006:Nlrp4a
|
UTSW |
7 |
26,453,467 (GRCm38) |
missense |
probably benign |
0.30 |
|
R1072:Nlrp4a
|
UTSW |
7 |
26,444,435 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1432:Nlrp4a
|
UTSW |
7 |
26,464,197 (GRCm38) |
frame shift |
probably null |
|
|
R1655:Nlrp4a
|
UTSW |
7 |
26,449,651 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R1696:Nlrp4a
|
UTSW |
7 |
26,450,534 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2041:Nlrp4a
|
UTSW |
7 |
26,450,186 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2091:Nlrp4a
|
UTSW |
7 |
26,450,153 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2163:Nlrp4a
|
UTSW |
7 |
26,453,397 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2174:Nlrp4a
|
UTSW |
7 |
26,449,424 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2319:Nlrp4a
|
UTSW |
7 |
26,449,894 (GRCm38) |
missense |
probably benign |
0.10 |
|
R2358:Nlrp4a
|
UTSW |
7 |
26,464,198 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2680:Nlrp4a
|
UTSW |
7 |
26,449,230 (GRCm38) |
splice site |
probably null |
|
|
R3812:Nlrp4a
|
UTSW |
7 |
26,449,693 (GRCm38) |
missense |
probably benign |
|
|
R4114:Nlrp4a
|
UTSW |
7 |
26,449,940 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4664:Nlrp4a
|
UTSW |
7 |
26,449,518 (GRCm38) |
nonsense |
probably null |
|
|
R4676:Nlrp4a
|
UTSW |
7 |
26,450,229 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4708:Nlrp4a
|
UTSW |
7 |
26,464,108 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4728:Nlrp4a
|
UTSW |
7 |
26,475,090 (GRCm38) |
missense |
probably benign |
0.24 |
|
R4815:Nlrp4a
|
UTSW |
7 |
26,450,808 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4831:Nlrp4a
|
UTSW |
7 |
26,450,419 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5007:Nlrp4a
|
UTSW |
7 |
26,462,480 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5253:Nlrp4a
|
UTSW |
7 |
26,450,492 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5262:Nlrp4a
|
UTSW |
7 |
26,459,811 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5441:Nlrp4a
|
UTSW |
7 |
26,454,153 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5639:Nlrp4a
|
UTSW |
7 |
26,457,030 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5641:Nlrp4a
|
UTSW |
7 |
26,450,164 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5771:Nlrp4a
|
UTSW |
7 |
26,453,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6312:Nlrp4a
|
UTSW |
7 |
26,449,396 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7131:Nlrp4a
|
UTSW |
7 |
26,449,833 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7149:Nlrp4a
|
UTSW |
7 |
26,450,438 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7348:Nlrp4a
|
UTSW |
7 |
26,444,273 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7384:Nlrp4a
|
UTSW |
7 |
26,449,538 (GRCm38) |
missense |
not run |
|
|
R7566:Nlrp4a
|
UTSW |
7 |
26,449,245 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7646:Nlrp4a
|
UTSW |
7 |
26,449,562 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7692:Nlrp4a
|
UTSW |
7 |
26,449,265 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7902:Nlrp4a
|
UTSW |
7 |
26,450,057 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R7925:Nlrp4a
|
UTSW |
7 |
26,450,586 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7937:Nlrp4a
|
UTSW |
7 |
26,464,146 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7992:Nlrp4a
|
UTSW |
7 |
26,450,645 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R8205:Nlrp4a
|
UTSW |
7 |
26,450,794 (GRCm38) |
missense |
probably benign |
|
|
R8477:Nlrp4a
|
UTSW |
7 |
26,459,794 (GRCm38) |
missense |
probably benign |
|
|
R8704:Nlrp4a
|
UTSW |
7 |
26,457,138 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8791:Nlrp4a
|
UTSW |
7 |
26,444,136 (GRCm38) |
splice site |
probably benign |
|
|
R9220:Nlrp4a
|
UTSW |
7 |
26,450,098 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9332:Nlrp4a
|
UTSW |
7 |
26,459,652 (GRCm38) |
missense |
probably damaging |
0.99 |
|
T0975:Nlrp4a
|
UTSW |
7 |
26,449,637 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0022:Nlrp4a
|
UTSW |
7 |
26,444,342 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1088:Nlrp4a
|
UTSW |
7 |
26,454,163 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAAATGAGCAGCTGTTCACTG -3'
(R):5'- AAGATAGCTGCACAGACCTC -3'
Sequencing Primer
(F):5'- AATGAGCAGCTGTTCACTGTATGTC -3'
(R):5'- CCTCCTGAACAGATGGATGG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation