Incidental Mutation 'R7566:Nlrp4a'
| ID |
585448 |
| 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 |
045628-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R7566 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
26134538-26175100 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to C
at 26148670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068767]
[ENSMUST00000119386]
[ENSMUST00000146907]
|
| AlphaFold |
Q8BU40 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000068767
|
| SMART Domains |
Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601
| 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 null
Transcript: ENSMUST00000119386
|
| SMART Domains |
Protein: ENSMUSP00000112441
Gene: ENSMUSG00000040601
| 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 null
Transcript: ENSMUST00000146907
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
T |
G |
1: 12,021,252 (GRCm39) |
S420R |
probably damaging |
Het |
| Acat2 |
C |
T |
17: 13,166,346 (GRCm39) |
D219N |
probably damaging |
Het |
| Anapc10 |
G |
A |
8: 80,446,308 (GRCm39) |
R46Q |
possibly damaging |
Het |
| Ankub1 |
G |
A |
3: 57,573,039 (GRCm39) |
R228* |
probably null |
Het |
| Arhgap21 |
T |
C |
2: 20,917,102 (GRCm39) |
N91S |
probably benign |
Het |
| Arhgap32 |
T |
A |
9: 32,162,018 (GRCm39) |
V323D |
probably benign |
Het |
| Bcas1 |
C |
T |
2: 170,212,369 (GRCm39) |
|
probably null |
Het |
| Cd109 |
C |
T |
9: 78,588,119 (GRCm39) |
P716S |
probably damaging |
Het |
| Chd4 |
C |
T |
6: 125,078,866 (GRCm39) |
P267L |
possibly damaging |
Het |
| Cpne7 |
G |
T |
8: 123,860,552 (GRCm39) |
V502F |
probably damaging |
Het |
| Cracd |
G |
A |
5: 77,014,122 (GRCm39) |
|
probably null |
Het |
| Dlgap4 |
C |
T |
2: 156,604,657 (GRCm39) |
A921V |
probably benign |
Het |
| Faap24 |
G |
T |
7: 35,092,465 (GRCm39) |
R151S |
probably benign |
Het |
| Fam98a |
A |
G |
17: 75,854,657 (GRCm39) |
S51P |
probably damaging |
Het |
| Fbxl8 |
A |
G |
8: 105,994,938 (GRCm39) |
D150G |
possibly damaging |
Het |
| Fut10 |
A |
G |
8: 31,749,950 (GRCm39) |
K412R |
probably benign |
Het |
| G0s2 |
T |
C |
1: 192,955,076 (GRCm39) |
S3G |
probably benign |
Het |
| Gm1527 |
T |
C |
3: 28,974,767 (GRCm39) |
Y527H |
probably benign |
Het |
| Gsdmc3 |
T |
C |
15: 63,733,510 (GRCm39) |
K227R |
possibly damaging |
Het |
| Gtf2ird2 |
A |
G |
5: 134,242,848 (GRCm39) |
Y354C |
probably damaging |
Het |
| Hmcn2 |
T |
A |
2: 31,344,869 (GRCm39) |
N4685K |
probably damaging |
Het |
| Itgad |
A |
T |
7: 127,791,279 (GRCm39) |
Y717F |
probably benign |
Het |
| Kcnh5 |
C |
T |
12: 75,161,166 (GRCm39) |
W247* |
probably null |
Het |
| Kcnt1 |
C |
A |
2: 25,806,048 (GRCm39) |
S1212R |
probably benign |
Het |
| Kirrel1 |
A |
G |
3: 86,995,791 (GRCm39) |
V381A |
probably damaging |
Het |
| Loxl1 |
T |
A |
9: 58,219,481 (GRCm39) |
Q230L |
probably damaging |
Het |
| Magi1 |
T |
C |
6: 93,655,308 (GRCm39) |
E1446G |
probably benign |
Het |
| Man1a |
A |
G |
10: 53,795,330 (GRCm39) |
V550A |
possibly damaging |
Het |
| Mgat4d |
T |
C |
8: 84,084,652 (GRCm39) |
S132P |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,549,925 (GRCm39) |
H5456L |
probably benign |
Het |
| Nhsl1 |
A |
G |
10: 18,391,867 (GRCm39) |
K207R |
probably damaging |
Het |
| Nr6a1 |
T |
C |
2: 38,621,085 (GRCm39) |
M407V |
possibly damaging |
Het |
| Or13c7b |
A |
G |
4: 43,820,711 (GRCm39) |
S217P |
probably damaging |
Het |
| Or2b2b |
T |
G |
13: 21,858,737 (GRCm39) |
I126L |
possibly damaging |
Het |
| Or2z2 |
G |
T |
11: 58,346,489 (GRCm39) |
F95L |
probably benign |
Het |
| Or6c206 |
T |
C |
10: 129,097,469 (GRCm39) |
I213T |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,881,626 (GRCm39) |
|
probably benign |
Het |
| Ovol3 |
G |
T |
7: 29,933,791 (GRCm39) |
F110L |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,549,821 (GRCm39) |
T724A |
probably benign |
Het |
| Phtf2 |
G |
T |
5: 20,970,799 (GRCm39) |
T653N |
probably damaging |
Het |
| Plch1 |
A |
T |
3: 63,688,663 (GRCm39) |
|
probably null |
Het |
| Prkce |
A |
T |
17: 86,800,757 (GRCm39) |
E391V |
probably benign |
Het |
| Prob1 |
A |
G |
18: 35,788,038 (GRCm39) |
V72A |
probably benign |
Het |
| Prrc2b |
C |
A |
2: 32,084,402 (GRCm39) |
P289Q |
probably benign |
Het |
| Ptbp3 |
A |
T |
4: 59,514,280 (GRCm39) |
N114K |
probably benign |
Het |
| Rho |
T |
A |
6: 115,909,135 (GRCm39) |
L57H |
probably damaging |
Het |
| Slc44a5 |
A |
C |
3: 153,975,626 (GRCm39) |
D679A |
probably damaging |
Het |
| Slit2 |
A |
T |
5: 48,407,239 (GRCm39) |
D898V |
probably damaging |
Het |
| Spag16 |
C |
T |
1: 69,909,487 (GRCm39) |
R195C |
probably damaging |
Het |
| Tmprss11a |
T |
G |
5: 86,591,993 (GRCm39) |
D60A |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,565,293 (GRCm39) |
R28311S |
probably damaging |
Het |
| Wfikkn1 |
T |
C |
17: 26,097,352 (GRCm39) |
D324G |
probably damaging |
Het |
| Zan |
A |
C |
5: 137,410,845 (GRCm39) |
|
probably null |
Het |
| Zfp945 |
A |
T |
17: 23,070,727 (GRCm39) |
C412S |
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 |
|
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'- TTGTTCTGGGCCAACAGATTAC -3'
(R):5'- GTGGCTTTGATTCAGTGCCC -3'
Sequencing Primer
(F):5'- GCTACTCATGGACAGTGGTAAATCC -3'
(R):5'- CAGTGCCCTTTGATTGGAAAAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation