Incidental Mutation 'R4728:Nlrp4a'
| ID |
358601 |
| 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 |
042020-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R4728 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
26134538-26175100 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26174515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 967
(V967A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068767]
[ENSMUST00000119386]
|
| AlphaFold |
Q8BU40 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068767
AA Change: V967A
PolyPhen 2
Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601
AA Change: V967A
| 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: V967A
PolyPhen 2
Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112441
Gene: ENSMUSG00000040601
AA Change: V967A
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
94% (73/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bicc1 |
C |
T |
10: 70,771,661 (GRCm39) |
|
probably null |
Het |
| Bpifc |
T |
A |
10: 85,827,063 (GRCm39) |
H162L |
possibly damaging |
Het |
| Ccdc163 |
C |
T |
4: 116,566,209 (GRCm39) |
|
probably benign |
Het |
| Cldn12 |
A |
G |
5: 5,558,385 (GRCm39) |
F14S |
probably damaging |
Het |
| Cyth4 |
G |
A |
15: 78,486,913 (GRCm39) |
G14R |
probably benign |
Het |
| Ddhd2 |
C |
T |
8: 26,242,294 (GRCm39) |
V194I |
probably damaging |
Het |
| Ddx23 |
A |
T |
15: 98,548,106 (GRCm39) |
V433E |
probably damaging |
Het |
| Defb34 |
A |
G |
8: 19,176,434 (GRCm39) |
N42D |
possibly damaging |
Het |
| Dennd6a |
A |
G |
14: 26,348,575 (GRCm39) |
E313G |
probably null |
Het |
| Dhx30 |
A |
G |
9: 109,916,718 (GRCm39) |
F570S |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,658,589 (GRCm39) |
E864G |
probably damaging |
Het |
| Eps8 |
G |
A |
6: 137,486,160 (GRCm39) |
Q451* |
probably null |
Het |
| Fmo9 |
A |
T |
1: 166,490,880 (GRCm39) |
Y533N |
possibly damaging |
Het |
| Fut8 |
T |
A |
12: 77,521,973 (GRCm39) |
D537E |
probably damaging |
Het |
| Gm5407 |
T |
C |
16: 49,117,283 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9916 |
A |
G |
3: 118,228,690 (GRCm39) |
|
noncoding transcript |
Het |
| Grm5 |
T |
A |
7: 87,624,496 (GRCm39) |
F354L |
probably damaging |
Het |
| Hira |
C |
T |
16: 18,741,654 (GRCm39) |
A353V |
probably damaging |
Het |
| Ifna4 |
C |
A |
4: 88,760,519 (GRCm39) |
T141K |
probably benign |
Het |
| Igf1r |
T |
C |
7: 67,839,372 (GRCm39) |
L628P |
probably damaging |
Het |
| Kcnh5 |
A |
T |
12: 75,054,555 (GRCm39) |
I463N |
probably damaging |
Het |
| Kcnh8 |
C |
A |
17: 53,032,898 (GRCm39) |
Q62K |
probably damaging |
Het |
| Kif3c |
A |
T |
12: 3,415,873 (GRCm39) |
|
probably benign |
Het |
| Kmo |
A |
G |
1: 175,484,329 (GRCm39) |
D353G |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,399,606 (GRCm39) |
T2301A |
probably damaging |
Het |
| Lrrc7 |
GAAGTTGTTTGGAGATTCTTATCTTA |
GA |
3: 158,024,045 (GRCm39) |
|
probably benign |
Het |
| Map3k9 |
C |
T |
12: 81,769,147 (GRCm39) |
R967Q |
probably damaging |
Het |
| Mcm8 |
A |
G |
2: 132,674,774 (GRCm39) |
H414R |
probably damaging |
Het |
| Mier1 |
A |
G |
4: 102,997,402 (GRCm39) |
E145G |
probably damaging |
Het |
| Mlc1 |
A |
T |
15: 88,862,234 (GRCm39) |
|
probably null |
Het |
| Napb |
T |
C |
2: 148,551,245 (GRCm39) |
D96G |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,338,740 (GRCm39) |
S193R |
probably damaging |
Het |
| Nlrp4e |
T |
A |
7: 23,020,989 (GRCm39) |
I492K |
probably benign |
Het |
| Notch4 |
A |
G |
17: 34,789,179 (GRCm39) |
T497A |
probably benign |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Ogdh |
T |
A |
11: 6,292,549 (GRCm39) |
Y417N |
probably damaging |
Het |
| Or5w19 |
T |
C |
2: 87,698,779 (GRCm39) |
V148A |
probably benign |
Het |
| Ovol1 |
A |
T |
19: 5,603,690 (GRCm39) |
Y70* |
probably null |
Het |
| P2ry1 |
A |
G |
3: 60,911,641 (GRCm39) |
Y260C |
probably damaging |
Het |
| Pcx |
G |
T |
19: 4,653,124 (GRCm39) |
R263L |
probably damaging |
Het |
| Pla2g4f |
T |
A |
2: 120,131,402 (GRCm39) |
T774S |
probably benign |
Het |
| Prdm15 |
T |
G |
16: 97,622,986 (GRCm39) |
K289Q |
probably benign |
Het |
| Prl7c1 |
A |
T |
13: 27,960,268 (GRCm39) |
H91Q |
probably benign |
Het |
| Prmt5 |
C |
T |
14: 54,745,364 (GRCm39) |
R601H |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,120,637 (GRCm39) |
D2192E |
probably damaging |
Het |
| Ptdss2 |
A |
G |
7: 140,734,372 (GRCm39) |
I299V |
probably benign |
Het |
| Rbm28 |
A |
G |
6: 29,143,591 (GRCm39) |
V354A |
probably damaging |
Het |
| Rps6kb1 |
G |
C |
11: 86,435,484 (GRCm39) |
|
probably null |
Het |
| Sema3f |
A |
G |
9: 107,582,639 (GRCm39) |
S35P |
probably benign |
Het |
| Serpina3n |
A |
T |
12: 104,375,422 (GRCm39) |
T165S |
probably benign |
Het |
| Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
| Sh2d4b |
T |
A |
14: 40,564,389 (GRCm39) |
R267* |
probably null |
Het |
| Slc5a12 |
A |
T |
2: 110,474,769 (GRCm39) |
K554* |
probably null |
Het |
| Snrnp200 |
T |
C |
2: 127,059,334 (GRCm39) |
L409P |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,069,798 (GRCm39) |
V981E |
possibly damaging |
Het |
| Spon2 |
T |
A |
5: 33,374,682 (GRCm39) |
R41S |
probably benign |
Het |
| Sptb |
A |
T |
12: 76,630,153 (GRCm39) |
M2279K |
probably benign |
Het |
| Srcap |
T |
G |
7: 127,140,096 (GRCm39) |
|
probably null |
Het |
| Tctn3 |
A |
G |
19: 40,594,186 (GRCm39) |
V409A |
probably damaging |
Het |
| Tg |
A |
C |
15: 66,554,676 (GRCm39) |
Q697P |
probably damaging |
Het |
| Tmem181a |
A |
G |
17: 6,340,874 (GRCm39) |
D141G |
probably benign |
Het |
| Tmem82 |
A |
G |
4: 141,341,963 (GRCm39) |
S334P |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,151,190 (GRCm39) |
Y1875C |
probably damaging |
Het |
| Vmn1r63 |
C |
A |
7: 5,806,362 (GRCm39) |
R90L |
probably damaging |
Het |
| Zfp330 |
A |
C |
8: 83,497,475 (GRCm39) |
Y56D |
probably 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 |
|
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 |
|
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'- TCAAGGTCTCCTGAATGTGGC -3'
(R):5'- GCCACATCTATCTTGCAAGAC -3'
Sequencing Primer
(F):5'- TCAAAGGGTCCAGTGACTGACTTC -3'
(R):5'- GCCACATCTATCTTGCAAGACACATC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation