Incidental Mutation 'R5639:Nlrp4a'
| ID |
440541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp4a
|
| Ensembl Gene |
ENSMUSG00000040601 |
| Gene Name |
NLR family, pyrin domain containing 4A |
| Synonyms |
Nalp-eta, E330028A19Rik, Nalp4a |
| MMRRC Submission |
043288-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R5639 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
26134538-26175100 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 26156455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 727
(A727T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068767]
[ENSMUST00000119386]
[ENSMUST00000146907]
|
| AlphaFold |
Q8BU40 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068767
AA Change: A727T
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601
AA Change: A727T
| 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 benign
Transcript: ENSMUST00000119386
AA Change: A727T
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000112441
Gene: ENSMUSG00000040601
AA Change: A727T
| 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 benign
Transcript: ENSMUST00000146907
AA Change: A727T
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
C |
8: 111,769,866 (GRCm39) |
Y322H |
probably benign |
Het |
| Aldh1a1 |
C |
A |
19: 20,600,786 (GRCm39) |
T201K |
probably damaging |
Het |
| Ankrd26 |
T |
C |
6: 118,516,685 (GRCm39) |
E493G |
possibly damaging |
Het |
| Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
| Bicc1 |
A |
T |
10: 70,776,350 (GRCm39) |
V701E |
probably damaging |
Het |
| Car11 |
T |
A |
7: 45,352,045 (GRCm39) |
|
probably null |
Het |
| Ccn1 |
A |
C |
3: 145,354,452 (GRCm39) |
V153G |
probably damaging |
Het |
| Celsr1 |
C |
G |
15: 85,914,968 (GRCm39) |
V1002L |
probably damaging |
Het |
| Clpx |
T |
A |
9: 65,237,112 (GRCm39) |
S597T |
probably benign |
Het |
| Cplx3 |
A |
T |
9: 57,519,149 (GRCm39) |
F266I |
probably benign |
Het |
| Dmpk |
A |
G |
7: 18,826,525 (GRCm39) |
M545V |
probably benign |
Het |
| Dnah7c |
C |
G |
1: 46,778,828 (GRCm39) |
D3139E |
probably benign |
Het |
| Drd5 |
T |
A |
5: 38,477,178 (GRCm39) |
V57D |
possibly damaging |
Het |
| Epc2 |
A |
G |
2: 49,341,903 (GRCm39) |
N29S |
possibly damaging |
Het |
| Ercc3 |
T |
C |
18: 32,398,767 (GRCm39) |
V682A |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,844,931 (GRCm39) |
K438E |
unknown |
Het |
| Farp1 |
T |
A |
14: 121,512,794 (GRCm39) |
I764N |
probably damaging |
Het |
| Flvcr2 |
A |
T |
12: 85,794,250 (GRCm39) |
I209F |
probably benign |
Het |
| Fndc3b |
C |
T |
3: 27,480,302 (GRCm39) |
V1065M |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gp6 |
C |
A |
7: 4,397,130 (GRCm39) |
D102Y |
probably damaging |
Het |
| Gpc5 |
T |
C |
14: 115,330,179 (GRCm39) |
L114P |
probably benign |
Het |
| Kcnq3 |
T |
A |
15: 65,869,599 (GRCm39) |
E613V |
probably damaging |
Het |
| Krt74 |
T |
G |
15: 101,665,195 (GRCm39) |
|
noncoding transcript |
Het |
| Lipe |
T |
C |
7: 25,082,750 (GRCm39) |
T801A |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,429,708 (GRCm39) |
V454A |
probably damaging |
Het |
| Lsm14a |
T |
C |
7: 34,052,935 (GRCm39) |
D338G |
probably damaging |
Het |
| Mctp1 |
T |
C |
13: 77,172,902 (GRCm39) |
|
silent |
Het |
| Nrgn |
T |
C |
9: 37,457,344 (GRCm39) |
S48G |
probably benign |
Het |
| Oga |
A |
G |
19: 45,765,438 (GRCm39) |
I123T |
probably damaging |
Het |
| Or10k2 |
T |
C |
8: 84,267,973 (GRCm39) |
S67P |
probably damaging |
Het |
| Or4a73 |
T |
C |
2: 89,421,069 (GRCm39) |
Y130C |
probably damaging |
Het |
| Or51f23 |
A |
G |
7: 102,453,200 (GRCm39) |
S172G |
probably benign |
Het |
| Pdia6 |
A |
G |
12: 17,328,594 (GRCm39) |
E183G |
probably benign |
Het |
| Pign |
T |
A |
1: 105,517,040 (GRCm39) |
I529F |
probably benign |
Het |
| Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
| Samm50 |
T |
G |
15: 84,098,329 (GRCm39) |
I456S |
probably benign |
Het |
| Sesn1 |
A |
G |
10: 41,687,267 (GRCm39) |
R84G |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Spag17 |
G |
T |
3: 99,963,482 (GRCm39) |
D1067Y |
probably damaging |
Het |
| Sptan1 |
C |
T |
2: 29,881,005 (GRCm39) |
Q425* |
probably null |
Het |
| Srrm4 |
T |
A |
5: 116,729,418 (GRCm39) |
I36F |
unknown |
Het |
| Tas1r2 |
A |
T |
4: 139,387,107 (GRCm39) |
S189C |
probably damaging |
Het |
| Tep1 |
A |
G |
14: 51,091,062 (GRCm39) |
V690A |
possibly damaging |
Het |
| Trmo |
T |
C |
4: 46,382,073 (GRCm39) |
K348R |
probably benign |
Het |
| Trmu |
T |
A |
15: 85,766,899 (GRCm39) |
M36K |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,179,959 (GRCm39) |
T3380A |
possibly damaging |
Het |
| Unc79 |
A |
C |
12: 103,137,831 (GRCm39) |
T2425P |
probably damaging |
Het |
| Vmn2r12 |
G |
A |
5: 109,240,666 (GRCm39) |
T149I |
probably benign |
Het |
| Vwa3a |
A |
C |
7: 120,389,366 (GRCm39) |
K68T |
probably damaging |
Het |
| Yif1a |
T |
C |
19: 5,138,778 (GRCm39) |
|
probably null |
Het |
| Zbtb44 |
A |
T |
9: 30,965,348 (GRCm39) |
T253S |
probably damaging |
Het |
| Zdhhc3 |
T |
C |
9: 122,929,410 (GRCm39) |
Y75C |
probably damaging |
Het |
| Zfp189 |
T |
A |
4: 49,530,153 (GRCm39) |
F419I |
probably benign |
Het |
| Zfp663 |
T |
C |
2: 165,194,929 (GRCm39) |
D430G |
probably benign |
Het |
| Zfp709 |
T |
G |
8: 72,643,835 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Nlrp4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00487:Nlrp4a
|
APN |
7 |
26,149,410 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL00972:Nlrp4a
|
APN |
7 |
26,156,473 (GRCm39) |
missense |
probably benign |
|
|
IGL01081:Nlrp4a
|
APN |
7 |
26,149,254 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01788:Nlrp4a
|
APN |
7 |
26,153,492 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02001:Nlrp4a
|
APN |
7 |
26,149,394 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02070:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02175:Nlrp4a
|
APN |
7 |
26,174,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02193:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02193:Nlrp4a
|
APN |
7 |
26,159,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02197:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02200:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02202:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02207:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02237:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02240:Nlrp4a
|
APN |
7 |
26,148,703 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02658:Nlrp4a
|
APN |
7 |
26,149,138 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02743:Nlrp4a
|
APN |
7 |
26,159,240 (GRCm39) |
splice site |
probably benign |
|
|
IGL02960:Nlrp4a
|
APN |
7 |
26,149,155 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03064:Nlrp4a
|
APN |
7 |
26,148,934 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL03276:Nlrp4a
|
APN |
7 |
26,163,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB002:Nlrp4a
|
UTSW |
7 |
26,150,011 (GRCm39) |
missense |
probably benign |
0.10 |
|
BB012:Nlrp4a
|
UTSW |
7 |
26,150,011 (GRCm39) |
missense |
probably benign |
0.10 |
|
D3080:Nlrp4a
|
UTSW |
7 |
26,143,766 (GRCm39) |
missense |
probably benign |
0.22 |
|
P0019:Nlrp4a
|
UTSW |
7 |
26,149,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0020:Nlrp4a
|
UTSW |
7 |
26,149,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Nlrp4a
|
UTSW |
7 |
26,161,941 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0240:Nlrp4a
|
UTSW |
7 |
26,161,941 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0372:Nlrp4a
|
UTSW |
7 |
26,148,657 (GRCm39) |
splice site |
probably benign |
|
|
R0466:Nlrp4a
|
UTSW |
7 |
26,162,045 (GRCm39) |
splice site |
probably benign |
|
|
R0544:Nlrp4a
|
UTSW |
7 |
26,156,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1006:Nlrp4a
|
UTSW |
7 |
26,152,892 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1072:Nlrp4a
|
UTSW |
7 |
26,143,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1432:Nlrp4a
|
UTSW |
7 |
26,163,622 (GRCm39) |
frame shift |
probably null |
|
|
R1655:Nlrp4a
|
UTSW |
7 |
26,149,076 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1696:Nlrp4a
|
UTSW |
7 |
26,149,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2041:Nlrp4a
|
UTSW |
7 |
26,149,611 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2091:Nlrp4a
|
UTSW |
7 |
26,149,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2163:Nlrp4a
|
UTSW |
7 |
26,152,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2174:Nlrp4a
|
UTSW |
7 |
26,148,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2319:Nlrp4a
|
UTSW |
7 |
26,149,319 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2358:Nlrp4a
|
UTSW |
7 |
26,163,623 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2680:Nlrp4a
|
UTSW |
7 |
26,148,655 (GRCm39) |
splice site |
probably null |
|
|
R3812:Nlrp4a
|
UTSW |
7 |
26,149,118 (GRCm39) |
missense |
probably benign |
|
|
R4114:Nlrp4a
|
UTSW |
7 |
26,149,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4664:Nlrp4a
|
UTSW |
7 |
26,148,943 (GRCm39) |
nonsense |
probably null |
|
|
R4676:Nlrp4a
|
UTSW |
7 |
26,149,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4708:Nlrp4a
|
UTSW |
7 |
26,163,533 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4728:Nlrp4a
|
UTSW |
7 |
26,174,515 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4815:Nlrp4a
|
UTSW |
7 |
26,150,233 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4831:Nlrp4a
|
UTSW |
7 |
26,149,844 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5007:Nlrp4a
|
UTSW |
7 |
26,161,905 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5253:Nlrp4a
|
UTSW |
7 |
26,149,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5262:Nlrp4a
|
UTSW |
7 |
26,159,236 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5441:Nlrp4a
|
UTSW |
7 |
26,153,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5641:Nlrp4a
|
UTSW |
7 |
26,149,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5771:Nlrp4a
|
UTSW |
7 |
26,152,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6312:Nlrp4a
|
UTSW |
7 |
26,148,821 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7131:Nlrp4a
|
UTSW |
7 |
26,149,258 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7149:Nlrp4a
|
UTSW |
7 |
26,149,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7348:Nlrp4a
|
UTSW |
7 |
26,143,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7384:Nlrp4a
|
UTSW |
7 |
26,148,963 (GRCm39) |
missense |
not run |
|
|
R7548:Nlrp4a
|
UTSW |
7 |
26,149,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7566:Nlrp4a
|
UTSW |
7 |
26,148,670 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7646:Nlrp4a
|
UTSW |
7 |
26,148,987 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7692:Nlrp4a
|
UTSW |
7 |
26,148,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7902:Nlrp4a
|
UTSW |
7 |
26,149,482 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7925:Nlrp4a
|
UTSW |
7 |
26,150,011 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7937:Nlrp4a
|
UTSW |
7 |
26,163,571 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7992:Nlrp4a
|
UTSW |
7 |
26,150,070 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8205:Nlrp4a
|
UTSW |
7 |
26,150,219 (GRCm39) |
missense |
probably benign |
|
|
R8477:Nlrp4a
|
UTSW |
7 |
26,159,219 (GRCm39) |
missense |
probably benign |
|
|
R8704:Nlrp4a
|
UTSW |
7 |
26,156,563 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8791:Nlrp4a
|
UTSW |
7 |
26,143,561 (GRCm39) |
splice site |
probably benign |
|
|
R9220:Nlrp4a
|
UTSW |
7 |
26,149,523 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9332:Nlrp4a
|
UTSW |
7 |
26,159,077 (GRCm39) |
missense |
probably damaging |
0.99 |
|
T0975:Nlrp4a
|
UTSW |
7 |
26,149,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Nlrp4a
|
UTSW |
7 |
26,143,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Nlrp4a
|
UTSW |
7 |
26,153,588 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATTCCATTTCAGCAAGCTTAAAC -3'
(R):5'- CACAGTCTCTACAGTGTACCCC -3'
Sequencing Primer
(F):5'- CATTGCTCAGAGGGTTATAAGCACC -3'
(R):5'- CCTCCCAAGGCTACTTACACTAAGTG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation