Incidental Mutation 'R2358:Nlrp4a'
| ID |
247010 |
| 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 |
040340-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R2358 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
26134538-26175100 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26163623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 930
(D930G)
|
| 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: D930G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601
AA Change: D930G
| 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: D930G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000112441
Gene: ENSMUSG00000040601
AA Change: D930G
| 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: D930G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.3285 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
CGG |
CG |
5: 124,215,368 (GRCm39) |
|
probably null |
Het |
| Aif1l |
T |
A |
2: 31,859,763 (GRCm39) |
F94L |
probably damaging |
Het |
| Ankzf1 |
C |
T |
1: 75,171,895 (GRCm39) |
H209Y |
probably damaging |
Het |
| Ate1 |
A |
T |
7: 130,117,895 (GRCm39) |
M30K |
probably damaging |
Het |
| Cd27 |
A |
G |
6: 125,210,281 (GRCm39) |
Y189H |
probably damaging |
Het |
| Cela1 |
A |
G |
15: 100,579,109 (GRCm39) |
I183T |
probably benign |
Het |
| Copg2 |
A |
T |
6: 30,803,168 (GRCm39) |
L259* |
probably null |
Het |
| Dennd2b |
A |
T |
7: 109,155,653 (GRCm39) |
S366T |
probably benign |
Het |
| Efcab7 |
T |
A |
4: 99,719,823 (GRCm39) |
|
probably benign |
Het |
| Fcrl5 |
A |
G |
3: 87,353,726 (GRCm39) |
E357G |
probably damaging |
Het |
| Fzr1 |
C |
T |
10: 81,203,474 (GRCm39) |
|
probably null |
Het |
| Il12rb2 |
C |
T |
6: 67,275,179 (GRCm39) |
A649T |
probably damaging |
Het |
| Itfg1 |
C |
A |
8: 86,464,758 (GRCm39) |
V438F |
probably damaging |
Het |
| Jaml |
A |
C |
9: 45,012,361 (GRCm39) |
I283L |
possibly damaging |
Het |
| Kif28 |
A |
T |
1: 179,537,024 (GRCm39) |
H486Q |
probably damaging |
Het |
| Lrch4 |
A |
G |
5: 137,636,810 (GRCm39) |
|
probably benign |
Het |
| Lrfn2 |
A |
G |
17: 49,378,188 (GRCm39) |
E423G |
possibly damaging |
Het |
| Lrp4 |
T |
A |
2: 91,332,299 (GRCm39) |
N1665K |
probably benign |
Het |
| Mrpl32 |
A |
T |
13: 14,785,165 (GRCm39) |
V157E |
probably damaging |
Het |
| Mta3 |
A |
G |
17: 84,070,417 (GRCm39) |
I193V |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,162,018 (GRCm39) |
V984I |
possibly damaging |
Het |
| Nedd4l |
G |
A |
18: 65,342,790 (GRCm39) |
V909I |
possibly damaging |
Het |
| Or10al5 |
T |
A |
17: 38,063,271 (GRCm39) |
C175* |
probably null |
Het |
| Or5d47 |
A |
T |
2: 87,804,066 (GRCm39) |
N314K |
probably benign |
Het |
| Or7a35 |
T |
C |
10: 78,854,022 (GRCm39) |
F289L |
probably damaging |
Het |
| Ovch2 |
A |
T |
7: 107,394,122 (GRCm39) |
H110Q |
probably damaging |
Het |
| Pcnx3 |
G |
A |
19: 5,733,367 (GRCm39) |
Q155* |
probably null |
Het |
| Pcnx3 |
C |
G |
19: 5,733,368 (GRCm39) |
L1F |
probably null |
Het |
| Pi4k2a |
G |
A |
19: 42,079,131 (GRCm39) |
R64Q |
probably damaging |
Het |
| Ptpn12 |
G |
A |
5: 21,203,690 (GRCm39) |
P363S |
probably damaging |
Het |
| Rbm27 |
T |
C |
18: 42,425,177 (GRCm39) |
|
probably benign |
Het |
| Ripor3 |
A |
G |
2: 167,825,785 (GRCm39) |
|
probably benign |
Het |
| Rpl13-ps3 |
A |
G |
14: 59,131,265 (GRCm39) |
|
noncoding transcript |
Het |
| Sap18b |
G |
A |
8: 96,552,191 (GRCm39) |
R67H |
probably benign |
Het |
| Sdhb |
T |
C |
4: 140,700,311 (GRCm39) |
V137A |
probably damaging |
Het |
| Shmt2 |
T |
C |
10: 127,353,897 (GRCm39) |
T459A |
probably benign |
Het |
| Siglecg |
A |
G |
7: 43,058,846 (GRCm39) |
S200G |
possibly damaging |
Het |
| Slc6a15 |
T |
G |
10: 103,252,646 (GRCm39) |
I603S |
probably benign |
Het |
| Smtn |
A |
T |
11: 3,482,865 (GRCm39) |
|
probably null |
Het |
| Spata31d1a |
G |
A |
13: 59,851,702 (GRCm39) |
S142L |
probably benign |
Het |
| Spopfm2 |
G |
A |
3: 94,082,854 (GRCm39) |
A319V |
possibly damaging |
Het |
| Spopfm2 |
C |
A |
3: 94,082,855 (GRCm39) |
A319S |
possibly damaging |
Het |
| Spopl |
C |
T |
2: 23,427,392 (GRCm39) |
R221Q |
probably damaging |
Het |
| Strip1 |
A |
G |
3: 107,523,135 (GRCm39) |
V633A |
probably benign |
Het |
| Sun2 |
A |
G |
15: 79,612,114 (GRCm39) |
S522P |
possibly damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Terb2 |
T |
A |
2: 122,028,913 (GRCm39) |
C157S |
probably benign |
Het |
| Themis |
T |
A |
10: 28,739,376 (GRCm39) |
N615K |
possibly damaging |
Het |
| Tlnrd1 |
A |
T |
7: 83,531,488 (GRCm39) |
D314E |
probably benign |
Het |
| Vmn1r205 |
T |
A |
13: 22,776,566 (GRCm39) |
T179S |
probably benign |
Het |
| Vsig10l |
G |
A |
7: 43,118,185 (GRCm39) |
R689H |
probably benign |
Het |
| Wt1 |
G |
A |
2: 104,993,773 (GRCm39) |
|
probably benign |
Het |
| Zfp423 |
G |
T |
8: 88,507,179 (GRCm39) |
A1034D |
possibly damaging |
Het |
| Zfy2 |
T |
C |
Y: 2,107,272 (GRCm39) |
E454G |
possibly damaging |
Het |
| Zyg11a |
G |
T |
4: 108,053,343 (GRCm39) |
Q440K |
possibly damaging |
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 |
|
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 |
|
R5639:Nlrp4a
|
UTSW |
7 |
26,156,455 (GRCm39) |
missense |
probably benign |
0.02 |
|
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'- TGGACACTGGGCTTTTAAGAG -3'
(R):5'- TGTCAAGCCCTCTATGGACTG -3'
Sequencing Primer
(F):5'- GCTTTTAAGAGCCTGTCCTCAAAGG -3'
(R):5'- GTCAAGCCCTCTATGGACTGAACTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation