Incidental Mutation 'R1655:Nlrp4a'
| ID |
189025 |
| 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 |
039691-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R1655 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
26134538-26175100 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26149076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 228
(I228F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068767]
[ENSMUST00000119386]
[ENSMUST00000146907]
|
| AlphaFold |
Q8BU40 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068767
AA Change: I228F
PolyPhen 2
Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601
AA Change: I228F
| 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 |
possibly damaging
Transcript: ENSMUST00000119386
AA Change: I228F
PolyPhen 2
Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112441
Gene: ENSMUSG00000040601
AA Change: I228F
| 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 |
noncoding transcript
Transcript: ENSMUST00000146534
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146907
AA Change: I228F
PolyPhen 2
Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730061H03Rik |
A |
T |
14: 55,797,790 (GRCm39) |
|
probably benign |
Het |
| Abca1 |
C |
T |
4: 53,050,964 (GRCm39) |
A1582T |
probably benign |
Het |
| Acot8 |
A |
T |
2: 164,645,028 (GRCm39) |
S52T |
probably benign |
Het |
| Atcay |
C |
T |
10: 81,049,231 (GRCm39) |
V124M |
probably damaging |
Het |
| Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,222,436 (GRCm39) |
Y1180* |
probably null |
Het |
| Clptm1 |
T |
A |
7: 19,379,792 (GRCm39) |
H148L |
probably benign |
Het |
| Clstn3 |
A |
G |
6: 124,414,386 (GRCm39) |
L743P |
probably damaging |
Het |
| Crtc3 |
A |
T |
7: 80,248,524 (GRCm39) |
M313K |
possibly damaging |
Het |
| Csgalnact1 |
T |
A |
8: 68,826,341 (GRCm39) |
I326F |
possibly damaging |
Het |
| Dennd6b |
G |
T |
15: 89,080,543 (GRCm39) |
T19K |
unknown |
Het |
| Disp1 |
A |
T |
1: 182,868,568 (GRCm39) |
I1284N |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,364,680 (GRCm39) |
Y1992H |
probably damaging |
Het |
| Dnah6 |
C |
T |
6: 73,182,715 (GRCm39) |
V205I |
possibly damaging |
Het |
| Dst |
G |
T |
1: 34,321,657 (GRCm39) |
G4391* |
probably null |
Het |
| Dytn |
A |
G |
1: 63,700,357 (GRCm39) |
S258P |
probably damaging |
Het |
| Emilin3 |
T |
A |
2: 160,752,786 (GRCm39) |
|
probably null |
Het |
| Ermn |
C |
T |
2: 57,942,596 (GRCm39) |
V45I |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,011,467 (GRCm39) |
V2189A |
probably damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 27,846,535 (GRCm39) |
N1076Y |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,392,214 (GRCm39) |
I934T |
probably damaging |
Het |
| Gbp9 |
T |
A |
5: 105,229,558 (GRCm39) |
Q472L |
possibly damaging |
Het |
| Gimap5 |
G |
T |
6: 48,730,110 (GRCm39) |
E227* |
probably null |
Het |
| Gsdmc |
C |
T |
15: 63,651,892 (GRCm39) |
V240M |
probably benign |
Het |
| H2-Q4 |
G |
T |
17: 35,601,881 (GRCm39) |
V248F |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,875,940 (GRCm39) |
E1518G |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,506,084 (GRCm39) |
V3814A |
probably benign |
Het |
| Hoatz |
A |
T |
9: 50,994,921 (GRCm39) |
I136N |
probably damaging |
Het |
| Ifna7 |
A |
G |
4: 88,734,897 (GRCm39) |
T145A |
probably benign |
Het |
| Itgam |
T |
A |
7: 127,714,335 (GRCm39) |
M947K |
probably benign |
Het |
| Itpr2 |
T |
G |
6: 146,277,646 (GRCm39) |
N608H |
probably damaging |
Het |
| Klra2 |
T |
A |
6: 131,197,174 (GRCm39) |
N242I |
probably damaging |
Het |
| Lonrf2 |
A |
T |
1: 38,850,905 (GRCm39) |
L219Q |
probably damaging |
Het |
| Ly6c2 |
T |
C |
15: 74,980,412 (GRCm39) |
I126V |
probably benign |
Het |
| Mr1 |
G |
A |
1: 155,008,201 (GRCm39) |
T258M |
probably benign |
Het |
| Mrps35 |
T |
G |
6: 146,961,726 (GRCm39) |
D200E |
possibly damaging |
Het |
| Nbeal2 |
A |
C |
9: 110,461,940 (GRCm39) |
S1506A |
probably damaging |
Het |
| Ncoa7 |
T |
C |
10: 30,574,241 (GRCm39) |
|
probably null |
Het |
| Or13p5 |
A |
G |
4: 118,592,196 (GRCm39) |
S157G |
probably benign |
Het |
| Or5c1 |
A |
G |
2: 37,221,951 (GRCm39) |
Y64C |
probably damaging |
Het |
| Or5p59 |
A |
T |
7: 107,702,671 (GRCm39) |
I52F |
probably damaging |
Het |
| Or8k3 |
A |
G |
2: 86,058,424 (GRCm39) |
V297A |
possibly damaging |
Het |
| Paxx |
T |
C |
2: 25,350,328 (GRCm39) |
E93G |
probably damaging |
Het |
| Per2 |
C |
A |
1: 91,376,490 (GRCm39) |
G128W |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,223,561 (GRCm39) |
I796T |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,654,353 (GRCm39) |
S235P |
probably damaging |
Het |
| Pole |
T |
A |
5: 110,483,788 (GRCm39) |
F259Y |
probably damaging |
Het |
| Pus7 |
T |
A |
5: 23,952,798 (GRCm39) |
K512* |
probably null |
Het |
| Ralyl |
A |
T |
3: 14,172,296 (GRCm39) |
Y55F |
probably damaging |
Het |
| Rgs14 |
T |
A |
13: 55,531,347 (GRCm39) |
M451K |
probably benign |
Het |
| Rhag |
T |
C |
17: 41,142,487 (GRCm39) |
F231L |
probably damaging |
Het |
| Ric8a |
T |
C |
7: 140,440,808 (GRCm39) |
C94R |
probably benign |
Het |
| Rictor |
T |
A |
15: 6,801,693 (GRCm39) |
D460E |
probably benign |
Het |
| Rpn1 |
T |
C |
6: 88,077,926 (GRCm39) |
V454A |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,429,231 (GRCm39) |
D427G |
probably benign |
Het |
| Scai |
A |
T |
2: 38,970,129 (GRCm39) |
V545D |
possibly damaging |
Het |
| Serpinb3a |
A |
G |
1: 106,973,942 (GRCm39) |
V323A |
probably damaging |
Het |
| Slc13a5 |
C |
A |
11: 72,148,204 (GRCm39) |
C277F |
probably benign |
Het |
| Slc15a1 |
A |
T |
14: 121,703,311 (GRCm39) |
Y557N |
probably benign |
Het |
| Slc34a2 |
T |
C |
5: 53,226,761 (GRCm39) |
V628A |
probably benign |
Het |
| Slc8a2 |
G |
T |
7: 15,875,060 (GRCm39) |
G436V |
probably damaging |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Supt5 |
T |
C |
7: 28,029,449 (GRCm39) |
I103V |
probably benign |
Het |
| Tdrd1 |
T |
A |
19: 56,831,648 (GRCm39) |
Y346* |
probably null |
Het |
| Tg |
T |
G |
15: 66,700,417 (GRCm39) |
|
probably null |
Het |
| Top1 |
T |
A |
2: 160,545,616 (GRCm39) |
|
probably null |
Het |
| Trmt12 |
T |
C |
15: 58,745,076 (GRCm39) |
L158P |
probably damaging |
Het |
| Tssk4 |
A |
G |
14: 55,889,152 (GRCm39) |
N226S |
probably damaging |
Het |
| Unc80 |
G |
T |
1: 66,711,915 (GRCm39) |
V2746F |
possibly damaging |
Het |
| Usp34 |
T |
A |
11: 23,325,051 (GRCm39) |
V999E |
probably benign |
Het |
| Virma |
T |
C |
4: 11,494,786 (GRCm39) |
V29A |
probably damaging |
Het |
| Zfp40 |
A |
T |
17: 23,396,240 (GRCm39) |
Y48N |
probably benign |
Het |
| Zfp609 |
A |
G |
9: 65,610,836 (GRCm39) |
V709A |
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 |
|
|
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 |
|
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'- TGGATAGAAAGCCCAGTGTTTCTGC -3'
(R):5'- GGGACCTGACATACAGTGAACAGC -3'
Sequencing Primer
(F):5'- CCCAGTGTTTCTGCACAAATTC -3'
(R):5'- ACTGAAGGCTTCATGGGC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation