Incidental Mutation 'R0372:Nlrp4a'
| ID |
30539 |
| 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 |
038578-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R0372 (G1)
|
| Quality Score |
203 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
26134538-26175100 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 26148657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068767]
[ENSMUST00000119386]
[ENSMUST00000146907]
|
| AlphaFold |
Q8BU40 |
| Predicted Effect |
probably benign
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 benign
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 |
noncoding transcript
Transcript: ENSMUST00000146534
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146907
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 88.6%
|
| Validation Efficiency |
97% (70/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
T |
A |
14: 64,210,931 (GRCm39) |
Q99L |
probably damaging |
Het |
| Abca2 |
A |
G |
2: 25,327,365 (GRCm39) |
Y641C |
probably damaging |
Het |
| Abhd10 |
A |
G |
16: 45,557,254 (GRCm39) |
|
probably null |
Het |
| Acan |
G |
T |
7: 78,750,349 (GRCm39) |
A1707S |
probably benign |
Het |
| Ankrd61 |
T |
A |
5: 143,827,993 (GRCm39) |
R284S |
probably benign |
Het |
| Ap3d1 |
T |
C |
10: 80,559,401 (GRCm39) |
K258E |
probably damaging |
Het |
| Arl6ip6 |
T |
G |
2: 53,092,933 (GRCm39) |
F153V |
probably damaging |
Het |
| Atp2c2 |
C |
A |
8: 120,484,180 (GRCm39) |
F930L |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,703,309 (GRCm39) |
|
probably null |
Het |
| Axin2 |
A |
G |
11: 108,814,159 (GRCm39) |
S16G |
probably damaging |
Het |
| Axin2 |
T |
A |
11: 108,814,936 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
A |
T |
3: 36,656,981 (GRCm39) |
D282E |
probably benign |
Het |
| Ccny |
A |
T |
18: 9,345,201 (GRCm39) |
V191D |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,725,957 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
T |
A |
17: 17,607,552 (GRCm39) |
C367S |
probably benign |
Het |
| Cnnm4 |
G |
A |
1: 36,537,091 (GRCm39) |
V472M |
probably damaging |
Het |
| Cpb2 |
T |
A |
14: 75,479,817 (GRCm39) |
I8N |
probably benign |
Het |
| Dusp11 |
A |
G |
6: 85,935,712 (GRCm39) |
|
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,756,629 (GRCm39) |
|
probably null |
Het |
| Gbf1 |
C |
T |
19: 46,274,143 (GRCm39) |
P1726S |
probably benign |
Het |
| Hal |
A |
G |
10: 93,343,415 (GRCm39) |
|
probably benign |
Het |
| Hlcs |
T |
C |
16: 93,939,766 (GRCm39) |
I671V |
possibly damaging |
Het |
| Ifnab |
A |
G |
4: 88,609,071 (GRCm39) |
S132P |
probably benign |
Het |
| Ing5 |
T |
C |
1: 93,740,142 (GRCm39) |
I70T |
probably damaging |
Het |
| Ints1 |
T |
C |
5: 139,758,193 (GRCm39) |
N228S |
probably damaging |
Het |
| Itgb6 |
T |
A |
2: 60,458,185 (GRCm39) |
I523F |
probably benign |
Het |
| Kat2b |
T |
C |
17: 53,945,565 (GRCm39) |
F328S |
possibly damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,316,950 (GRCm39) |
I34F |
possibly damaging |
Het |
| Klhl11 |
A |
T |
11: 100,354,348 (GRCm39) |
I491N |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,155,489 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
G |
T |
10: 127,428,005 (GRCm39) |
P523T |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,620,810 (GRCm39) |
D3556V |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,365,387 (GRCm39) |
H262L |
probably benign |
Het |
| Lrrc27 |
T |
A |
7: 138,806,103 (GRCm39) |
I256K |
probably benign |
Het |
| Lrrc47 |
G |
A |
4: 154,104,089 (GRCm39) |
R523K |
probably benign |
Het |
| Lrrc71 |
A |
T |
3: 87,653,084 (GRCm39) |
S111T |
probably benign |
Het |
| Map3k7cl |
T |
C |
16: 87,378,100 (GRCm39) |
V72A |
probably damaging |
Het |
| Mphosph10 |
G |
T |
7: 64,038,603 (GRCm39) |
|
probably benign |
Het |
| Nsd2 |
A |
T |
5: 34,048,895 (GRCm39) |
M1140L |
probably damaging |
Het |
| Nt5dc3 |
T |
C |
10: 86,661,155 (GRCm39) |
M440T |
possibly damaging |
Het |
| Oog4 |
A |
T |
4: 143,164,259 (GRCm39) |
L424Q |
probably damaging |
Het |
| Or5h17 |
T |
C |
16: 58,820,450 (GRCm39) |
V134A |
probably benign |
Het |
| Orc5 |
A |
T |
5: 22,738,782 (GRCm39) |
Y160N |
possibly damaging |
Het |
| Papola |
T |
C |
12: 105,785,097 (GRCm39) |
F410L |
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,333,932 (GRCm39) |
E82G |
probably damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,706,439 (GRCm39) |
Y287C |
probably damaging |
Het |
| Pld1 |
T |
A |
3: 28,142,787 (GRCm39) |
|
probably null |
Het |
| Plekha8 |
G |
A |
6: 54,593,743 (GRCm39) |
|
probably null |
Het |
| Ppbp |
C |
T |
5: 90,917,202 (GRCm39) |
T93M |
possibly damaging |
Het |
| Prpsap2 |
A |
G |
11: 61,631,826 (GRCm39) |
I177T |
possibly damaging |
Het |
| Rab3gap2 |
C |
T |
1: 184,994,891 (GRCm39) |
T810M |
possibly damaging |
Het |
| Rassf9 |
A |
G |
10: 102,381,872 (GRCm39) |
N418S |
possibly damaging |
Het |
| Rnf20 |
C |
G |
4: 49,650,176 (GRCm39) |
R582G |
possibly damaging |
Het |
| Serpine2 |
T |
C |
1: 79,799,147 (GRCm39) |
I36V |
probably damaging |
Het |
| Sf3b2 |
C |
T |
19: 5,324,852 (GRCm39) |
D845N |
probably damaging |
Het |
| Slc24a2 |
A |
T |
4: 87,145,529 (GRCm39) |
V175E |
probably damaging |
Het |
| Sned1 |
T |
C |
1: 93,213,673 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spg11 |
GCC |
G |
2: 121,889,928 (GRCm39) |
|
probably null |
Het |
| Tecrl |
C |
T |
5: 83,442,506 (GRCm39) |
C189Y |
probably damaging |
Het |
| Tert |
A |
G |
13: 73,797,110 (GRCm39) |
D1116G |
probably damaging |
Het |
| Thnsl2 |
T |
C |
6: 71,116,774 (GRCm39) |
Y126C |
probably damaging |
Het |
| Tll2 |
T |
C |
19: 41,171,752 (GRCm39) |
|
probably null |
Het |
| Ubqln4 |
C |
T |
3: 88,463,276 (GRCm39) |
S147L |
probably benign |
Het |
| Ugt2b5 |
A |
T |
5: 87,288,117 (GRCm39) |
C17S |
probably benign |
Het |
| Vps41 |
A |
T |
13: 19,026,417 (GRCm39) |
Q505L |
probably benign |
Het |
| Zfp386 |
T |
C |
12: 116,018,436 (GRCm39) |
M35T |
possibly damaging |
Het |
| Zfp777 |
T |
C |
6: 48,021,410 (GRCm39) |
M71V |
possibly damaging |
Het |
| Zfp938 |
A |
T |
10: 82,063,662 (GRCm39) |
L34Q |
probably damaging |
Het |
| Zfp974 |
A |
T |
7: 27,620,120 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- AGGGGTCAGCCCATTCCTAGAAAAG -3'
(R):5'- TCAGTGTCTTGCCAACTCCAGC -3'
Sequencing Primer
(F):5'- agttttgctcccagcacc -3'
(R):5'- GAACACCACCTGTGGCTTTG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation