Incidental Mutation 'R7992:Nlrp4a'
| ID |
651808 |
| 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 |
046033-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R7992 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
26134538-26175100 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26150070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 559
(D559V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068767]
[ENSMUST00000119386]
[ENSMUST00000146907]
|
| AlphaFold |
Q8BU40 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068767
AA Change: D559V
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601
AA Change: D559V
| 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: D559V
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112441
Gene: ENSMUSG00000040601
AA Change: D559V
| 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 |
possibly damaging
Transcript: ENSMUST00000146907
AA Change: D559V
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
A |
G |
15: 11,310,904 (GRCm39) |
T1054A |
probably benign |
Het |
| Ankfn1 |
A |
C |
11: 89,413,859 (GRCm39) |
I172S |
probably benign |
Het |
| Ano3 |
T |
C |
2: 110,605,367 (GRCm39) |
T280A |
possibly damaging |
Het |
| Arhgef37 |
T |
A |
18: 61,638,827 (GRCm39) |
E307D |
probably benign |
Het |
| Bptf |
C |
T |
11: 107,001,709 (GRCm39) |
V468I |
probably benign |
Het |
| Ces1b |
A |
G |
8: 93,786,987 (GRCm39) |
V464A |
probably benign |
Het |
| Cmc2 |
A |
T |
8: 117,616,446 (GRCm39) |
L93* |
probably null |
Het |
| Ddx60 |
A |
G |
8: 62,407,569 (GRCm39) |
D360G |
probably benign |
Het |
| Dock6 |
C |
T |
9: 21,744,135 (GRCm39) |
|
probably null |
Het |
| Erp44 |
A |
G |
4: 48,218,136 (GRCm39) |
F178L |
possibly damaging |
Het |
| Fam47e |
T |
C |
5: 92,722,541 (GRCm39) |
V79A |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,542,165 (GRCm39) |
S770P |
probably damaging |
Het |
| Fcgr1 |
A |
G |
3: 96,191,897 (GRCm39) |
F304L |
probably benign |
Het |
| Fkbp15 |
T |
C |
4: 62,230,538 (GRCm39) |
E725G |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,638,825 (GRCm39) |
I1971V |
probably benign |
Het |
| Gdf6 |
A |
G |
4: 9,844,652 (GRCm39) |
S59G |
probably benign |
Het |
| Gm5773 |
T |
A |
3: 93,680,373 (GRCm39) |
I15N |
possibly damaging |
Het |
| Hesx1 |
T |
C |
14: 26,723,379 (GRCm39) |
S70P |
probably benign |
Het |
| Htr5a |
T |
C |
5: 28,055,995 (GRCm39) |
S329P |
probably damaging |
Het |
| Htt |
T |
C |
5: 34,987,225 (GRCm39) |
|
probably null |
Het |
| Iba57 |
T |
A |
11: 59,052,288 (GRCm39) |
M118L |
unknown |
Het |
| Ifi35 |
C |
T |
11: 101,348,307 (GRCm39) |
Q112* |
probably null |
Het |
| Il12rb1 |
G |
T |
8: 71,265,233 (GRCm39) |
R183L |
possibly damaging |
Het |
| Il12rb2 |
A |
T |
6: 67,328,311 (GRCm39) |
Y306* |
probably null |
Het |
| Ints1 |
C |
G |
5: 139,742,282 (GRCm39) |
D1722H |
probably damaging |
Het |
| Ipp |
T |
G |
4: 116,381,453 (GRCm39) |
D317E |
probably damaging |
Het |
| Kif26a |
A |
G |
12: 112,142,481 (GRCm39) |
T912A |
probably benign |
Het |
| Klhdc7a |
A |
G |
4: 139,693,045 (GRCm39) |
V634A |
probably damaging |
Het |
| Klhl40 |
C |
A |
9: 121,607,748 (GRCm39) |
P303T |
probably damaging |
Het |
| Krt13 |
T |
C |
11: 100,008,478 (GRCm39) |
T420A |
unknown |
Het |
| Lpcat2 |
T |
C |
8: 93,582,186 (GRCm39) |
F35S |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,289,753 (GRCm39) |
V5470A |
probably damaging |
Het |
| Mta2 |
T |
C |
19: 8,925,151 (GRCm39) |
|
probably null |
Het |
| Muc16 |
G |
T |
9: 18,567,725 (GRCm39) |
T1598K |
unknown |
Het |
| Nckap5 |
A |
T |
1: 125,954,547 (GRCm39) |
N668K |
probably damaging |
Het |
| Npat |
T |
C |
9: 53,474,167 (GRCm39) |
L653P |
probably benign |
Het |
| Oog1 |
G |
A |
12: 87,655,252 (GRCm39) |
V467I |
possibly damaging |
Het |
| Or4c15b |
A |
G |
2: 89,113,082 (GRCm39) |
S132P |
probably benign |
Het |
| Or4f56 |
C |
T |
2: 111,703,280 (GRCm39) |
A307T |
probably benign |
Het |
| Pdzph1 |
T |
A |
17: 59,186,105 (GRCm39) |
M1229L |
possibly damaging |
Het |
| Piwil4 |
T |
A |
9: 14,614,445 (GRCm39) |
Q106L |
|
Het |
| Plekha5 |
C |
A |
6: 140,472,267 (GRCm39) |
R65S |
probably damaging |
Het |
| Ptger4 |
T |
C |
15: 5,264,381 (GRCm39) |
Y425C |
probably damaging |
Het |
| Pus7 |
A |
G |
5: 23,951,465 (GRCm39) |
M534T |
possibly damaging |
Het |
| Rtkn2 |
C |
T |
10: 67,875,923 (GRCm39) |
P411S |
probably damaging |
Het |
| Scand1 |
G |
A |
2: 156,154,232 (GRCm39) |
P13S |
unknown |
Het |
| Scaper |
T |
C |
9: 55,765,438 (GRCm39) |
H550R |
probably benign |
Het |
| Senp5 |
T |
A |
16: 31,796,514 (GRCm39) |
K617I |
probably damaging |
Het |
| Shq1 |
A |
G |
6: 100,613,972 (GRCm39) |
L282P |
probably damaging |
Het |
| Slc12a6 |
T |
A |
2: 112,166,256 (GRCm39) |
C227S |
probably damaging |
Het |
| Slc5a9 |
T |
A |
4: 111,747,729 (GRCm39) |
T284S |
probably benign |
Het |
| Stat2 |
T |
A |
10: 128,120,831 (GRCm39) |
F579L |
probably damaging |
Het |
| Tes |
G |
T |
6: 17,096,242 (GRCm39) |
A77S |
possibly damaging |
Het |
| Themis |
A |
T |
10: 28,637,342 (GRCm39) |
T149S |
probably benign |
Het |
| Tmprss6 |
C |
T |
15: 78,326,664 (GRCm39) |
R653H |
probably benign |
Het |
| Trmt6 |
G |
A |
2: 132,652,959 (GRCm39) |
L107F |
probably damaging |
Het |
| Trpm6 |
T |
C |
19: 18,792,714 (GRCm39) |
C713R |
probably damaging |
Het |
| Trpm7 |
T |
C |
2: 126,667,454 (GRCm39) |
I820V |
probably benign |
Het |
| Usp45 |
G |
A |
4: 21,824,543 (GRCm39) |
A432T |
probably benign |
Het |
| Xab2 |
A |
T |
8: 3,668,622 (GRCm39) |
V82E |
possibly damaging |
Het |
| Zfp938 |
T |
A |
10: 82,061,777 (GRCm39) |
Y281F |
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 |
|
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 |
|
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'- CCCTAGCCAGGAGGTTAAAAGTATAG -3'
(R):5'- GCTGTGTTCTTGAGCTCCAC -3'
Sequencing Primer
(F):5'- CAAAGTACAGTGGATTTTCTTTGGC -3'
(R):5'- GAGCTCCACTCAGGACATTCTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation