Incidental Mutation 'R8477:Nlrp4a'
| ID |
657307 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp4a
|
| Ensembl Gene |
ENSMUSG00000040601 |
| Gene Name |
NLR family, pyrin domain containing 4A |
| Synonyms |
E330028A19Rik, Nalp-eta, Nalp4a |
| MMRRC Submission |
067921-MU
|
| Accession Numbers |
Genbank: NM_172896; MGI: 2443697
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R8477 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
26435113-26476142 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26459794 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 833
(V833A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068767]
[ENSMUST00000119386]
[ENSMUST00000146907]
|
| AlphaFold |
Q8BU40 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068767
AA Change: V833A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601
AA Change: V833A
| 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: V833A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112441
Gene: ENSMUSG00000040601
AA Change: V833A
| 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 benign
Transcript: ENSMUST00000146907
AA Change: V833A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
G |
A |
10: 79,088,340 (GRCm38) |
S94L |
probably benign |
Het |
| Ackr1 |
C |
T |
1: 173,332,188 (GRCm38) |
G255R |
probably damaging |
Het |
| Aldh1l2 |
G |
A |
10: 83,501,921 (GRCm38) |
T560I |
probably damaging |
Het |
| Arhgef25 |
A |
T |
10: 127,184,397 (GRCm38) |
F384I |
probably damaging |
Het |
| Bptf |
T |
A |
11: 107,052,853 (GRCm38) |
Q2671L |
probably damaging |
Het |
| Ccdc159 |
A |
G |
9: 21,932,927 (GRCm38) |
E95G |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,653,188 (GRCm38) |
H2298Q |
probably benign |
Het |
| Chn2 |
G |
T |
6: 54,269,482 (GRCm38) |
|
probably null |
Het |
| Csnk1g1 |
T |
C |
9: 66,002,273 (GRCm38) |
L224P |
probably damaging |
Het |
| Cyp2c54 |
T |
A |
19: 40,070,264 (GRCm38) |
K241N |
probably benign |
Het |
| Cyp2c55 |
G |
T |
19: 39,011,041 (GRCm38) |
V64L |
probably damaging |
Het |
| Dlgap1 |
A |
C |
17: 70,516,972 (GRCm38) |
Q317H |
probably damaging |
Het |
| Dnaja3 |
A |
G |
16: 4,687,348 (GRCm38) |
D108G |
probably null |
Het |
| Dpagt1 |
G |
T |
9: 44,332,093 (GRCm38) |
|
probably null |
Het |
| Dzip1 |
T |
C |
14: 118,901,546 (GRCm38) |
R424G |
possibly damaging |
Het |
| E330014E10Rik |
A |
C |
5: 95,801,708 (GRCm38) |
M105L |
probably benign |
Het |
| Ero1lb |
A |
G |
13: 12,601,783 (GRCm38) |
K367R |
probably benign |
Het |
| Evi2 |
T |
C |
11: 79,516,065 (GRCm38) |
Y228C |
probably benign |
Het |
| Exosc10 |
A |
T |
4: 148,565,390 (GRCm38) |
I426L |
possibly damaging |
Het |
| Fam208b |
A |
G |
13: 3,575,079 (GRCm38) |
F1624L |
probably benign |
Het |
| Gba2 |
C |
T |
4: 43,569,944 (GRCm38) |
R423Q |
probably damaging |
Het |
| Gm19965 |
A |
C |
1: 116,803,124 (GRCm38) |
|
probably benign |
Het |
| Gm4070 |
T |
C |
7: 105,898,926 (GRCm38) |
K1640E |
possibly damaging |
Het |
| Gpr165 |
C |
A |
X: 96,714,017 (GRCm38) |
D7E |
probably benign |
Het |
| Hc |
A |
T |
2: 34,989,170 (GRCm38) |
C1557S |
probably damaging |
Het |
| Hfm1 |
C |
T |
5: 106,881,818 (GRCm38) |
S799N |
probably benign |
Het |
| Hibadh |
A |
T |
6: 52,640,200 (GRCm38) |
W17R |
probably benign |
Het |
| Hivep1 |
A |
T |
13: 42,184,220 (GRCm38) |
T2592S |
probably benign |
Het |
| Ighv8-5 |
G |
A |
12: 115,067,580 (GRCm38) |
T113I |
probably benign |
Het |
| Il2rb |
A |
T |
15: 78,485,806 (GRCm38) |
V211D |
probably damaging |
Het |
| Itgal |
A |
G |
7: 127,300,933 (GRCm38) |
Y121C |
probably damaging |
Het |
| Kirrel |
T |
C |
3: 87,084,831 (GRCm38) |
T597A |
possibly damaging |
Het |
| Lats1 |
A |
G |
10: 7,705,515 (GRCm38) |
E688G |
probably damaging |
Het |
| Lbr |
C |
T |
1: 181,816,974 (GRCm38) |
A589T |
possibly damaging |
Het |
| Limch1 |
G |
A |
5: 66,974,565 (GRCm38) |
V133I |
probably benign |
Het |
| Mast2 |
C |
T |
4: 116,307,210 (GRCm38) |
A1670T |
probably benign |
Het |
| Mtcl1 |
A |
T |
17: 66,377,947 (GRCm38) |
L949Q |
probably benign |
Het |
| Olfr358 |
T |
C |
2: 37,005,048 (GRCm38) |
T189A |
probably benign |
Het |
| Olfr945 |
A |
T |
9: 39,257,803 (GRCm38) |
Y290N |
probably damaging |
Het |
| Osgep |
C |
A |
14: 50,917,877 (GRCm38) |
A75S |
probably damaging |
Het |
| Pank1 |
C |
A |
19: 34,878,655 (GRCm38) |
R141L |
probably benign |
Het |
| Pcdhb20 |
T |
A |
18: 37,505,254 (GRCm38) |
S278T |
probably benign |
Het |
| Pcdhgb8 |
C |
A |
18: 37,763,312 (GRCm38) |
F478L |
probably benign |
Het |
| Peg10 |
C |
CTCT |
6: 4,756,453 (GRCm38) |
|
probably benign |
Het |
| Polr2a |
G |
A |
11: 69,735,486 (GRCm38) |
P1613S |
probably benign |
Het |
| Prom2 |
A |
C |
2: 127,539,204 (GRCm38) |
S251A |
probably benign |
Het |
| R3hdm2 |
A |
G |
10: 127,484,160 (GRCm38) |
H546R |
probably damaging |
Het |
| Reck |
G |
T |
4: 43,891,011 (GRCm38) |
V50L |
probably benign |
Het |
| Rerg |
T |
C |
6: 137,056,186 (GRCm38) |
T164A |
probably benign |
Het |
| Rho |
T |
A |
6: 115,935,385 (GRCm38) |
|
probably null |
Het |
| Ric1 |
A |
G |
19: 29,597,783 (GRCm38) |
T959A |
probably damaging |
Het |
| Slc28a3 |
T |
A |
13: 58,576,795 (GRCm38) |
N215I |
possibly damaging |
Het |
| Slc2a5 |
G |
A |
4: 150,125,662 (GRCm38) |
V35I |
probably benign |
Het |
| Srpk2 |
A |
T |
5: 23,513,988 (GRCm38) |
S610T |
probably benign |
Het |
| Tmem147 |
T |
A |
7: 30,728,231 (GRCm38) |
M86L |
probably benign |
Het |
| Trhde |
A |
G |
10: 114,800,717 (GRCm38) |
V195A |
probably benign |
Het |
| Trio |
T |
C |
15: 27,773,952 (GRCm38) |
S112G |
possibly damaging |
Het |
| U2af2 |
T |
C |
7: 5,075,694 (GRCm38) |
V424A |
probably benign |
Het |
| Vmn2r27 |
T |
C |
6: 124,224,241 (GRCm38) |
I252M |
probably benign |
Het |
| Wasf2 |
A |
G |
4: 133,185,101 (GRCm38) |
E88G |
unknown |
Het |
| Zfp37 |
A |
G |
4: 62,192,003 (GRCm38) |
C275R |
probably damaging |
Het |
| Zfp532 |
A |
T |
18: 65,624,066 (GRCm38) |
I357F |
probably damaging |
Het |
|
| Other mutations in Nlrp4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00487:Nlrp4a
|
APN |
7 |
26,449,985 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
IGL00972:Nlrp4a
|
APN |
7 |
26,457,048 (GRCm38) |
missense |
probably benign |
|
|
IGL01081:Nlrp4a
|
APN |
7 |
26,449,829 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01788:Nlrp4a
|
APN |
7 |
26,454,067 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL02001:Nlrp4a
|
APN |
7 |
26,449,969 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02070:Nlrp4a
|
APN |
7 |
26,449,278 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02175:Nlrp4a
|
APN |
7 |
26,475,097 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02193:Nlrp4a
|
APN |
7 |
26,449,278 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02193:Nlrp4a
|
APN |
7 |
26,459,692 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02197:Nlrp4a
|
APN |
7 |
26,449,278 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02200:Nlrp4a
|
APN |
7 |
26,449,278 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02202:Nlrp4a
|
APN |
7 |
26,449,278 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02207:Nlrp4a
|
APN |
7 |
26,449,278 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02237:Nlrp4a
|
APN |
7 |
26,449,278 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02240:Nlrp4a
|
APN |
7 |
26,449,278 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02658:Nlrp4a
|
APN |
7 |
26,449,713 (GRCm38) |
missense |
probably benign |
0.43 |
|
IGL02743:Nlrp4a
|
APN |
7 |
26,459,815 (GRCm38) |
splice site |
probably benign |
|
|
IGL02960:Nlrp4a
|
APN |
7 |
26,449,730 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL03064:Nlrp4a
|
APN |
7 |
26,449,509 (GRCm38) |
missense |
probably benign |
0.23 |
|
IGL03276:Nlrp4a
|
APN |
7 |
26,464,190 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB002:Nlrp4a
|
UTSW |
7 |
26,450,586 (GRCm38) |
missense |
probably benign |
0.10 |
|
BB012:Nlrp4a
|
UTSW |
7 |
26,450,586 (GRCm38) |
missense |
probably benign |
0.10 |
|
D3080:Nlrp4a
|
UTSW |
7 |
26,444,341 (GRCm38) |
missense |
probably benign |
0.22 |
|
P0019:Nlrp4a
|
UTSW |
7 |
26,449,637 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0020:Nlrp4a
|
UTSW |
7 |
26,450,372 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0240:Nlrp4a
|
UTSW |
7 |
26,462,516 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0240:Nlrp4a
|
UTSW |
7 |
26,462,516 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0372:Nlrp4a
|
UTSW |
7 |
26,449,232 (GRCm38) |
splice site |
probably benign |
|
|
R0466:Nlrp4a
|
UTSW |
7 |
26,462,620 (GRCm38) |
splice site |
probably benign |
|
|
R0544:Nlrp4a
|
UTSW |
7 |
26,457,130 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1006:Nlrp4a
|
UTSW |
7 |
26,453,467 (GRCm38) |
missense |
probably benign |
0.30 |
|
R1072:Nlrp4a
|
UTSW |
7 |
26,444,435 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1432:Nlrp4a
|
UTSW |
7 |
26,464,197 (GRCm38) |
frame shift |
probably null |
|
|
R1655:Nlrp4a
|
UTSW |
7 |
26,449,651 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R1696:Nlrp4a
|
UTSW |
7 |
26,450,534 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2041:Nlrp4a
|
UTSW |
7 |
26,450,186 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2091:Nlrp4a
|
UTSW |
7 |
26,450,153 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2163:Nlrp4a
|
UTSW |
7 |
26,453,397 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2174:Nlrp4a
|
UTSW |
7 |
26,449,424 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2319:Nlrp4a
|
UTSW |
7 |
26,449,894 (GRCm38) |
missense |
probably benign |
0.10 |
|
R2358:Nlrp4a
|
UTSW |
7 |
26,464,198 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2680:Nlrp4a
|
UTSW |
7 |
26,449,230 (GRCm38) |
splice site |
probably null |
|
|
R3812:Nlrp4a
|
UTSW |
7 |
26,449,693 (GRCm38) |
missense |
probably benign |
|
|
R4114:Nlrp4a
|
UTSW |
7 |
26,449,940 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4664:Nlrp4a
|
UTSW |
7 |
26,449,518 (GRCm38) |
nonsense |
probably null |
|
|
R4676:Nlrp4a
|
UTSW |
7 |
26,450,229 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4708:Nlrp4a
|
UTSW |
7 |
26,464,108 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4728:Nlrp4a
|
UTSW |
7 |
26,475,090 (GRCm38) |
missense |
probably benign |
0.24 |
|
R4815:Nlrp4a
|
UTSW |
7 |
26,450,808 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4831:Nlrp4a
|
UTSW |
7 |
26,450,419 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5007:Nlrp4a
|
UTSW |
7 |
26,462,480 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5253:Nlrp4a
|
UTSW |
7 |
26,450,492 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5262:Nlrp4a
|
UTSW |
7 |
26,459,811 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5441:Nlrp4a
|
UTSW |
7 |
26,454,153 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5639:Nlrp4a
|
UTSW |
7 |
26,457,030 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5641:Nlrp4a
|
UTSW |
7 |
26,450,164 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5771:Nlrp4a
|
UTSW |
7 |
26,453,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6312:Nlrp4a
|
UTSW |
7 |
26,449,396 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7131:Nlrp4a
|
UTSW |
7 |
26,449,833 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7149:Nlrp4a
|
UTSW |
7 |
26,450,438 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7348:Nlrp4a
|
UTSW |
7 |
26,444,273 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7384:Nlrp4a
|
UTSW |
7 |
26,449,538 (GRCm38) |
missense |
not run |
|
|
R7548:Nlrp4a
|
UTSW |
7 |
26,450,179 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7566:Nlrp4a
|
UTSW |
7 |
26,449,245 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7646:Nlrp4a
|
UTSW |
7 |
26,449,562 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7692:Nlrp4a
|
UTSW |
7 |
26,449,265 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7902:Nlrp4a
|
UTSW |
7 |
26,450,057 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R7925:Nlrp4a
|
UTSW |
7 |
26,450,586 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7937:Nlrp4a
|
UTSW |
7 |
26,464,146 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7992:Nlrp4a
|
UTSW |
7 |
26,450,645 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R8205:Nlrp4a
|
UTSW |
7 |
26,450,794 (GRCm38) |
missense |
probably benign |
|
|
R8704:Nlrp4a
|
UTSW |
7 |
26,457,138 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8791:Nlrp4a
|
UTSW |
7 |
26,444,136 (GRCm38) |
splice site |
probably benign |
|
|
R9220:Nlrp4a
|
UTSW |
7 |
26,450,098 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9332:Nlrp4a
|
UTSW |
7 |
26,459,652 (GRCm38) |
missense |
probably damaging |
0.99 |
|
T0975:Nlrp4a
|
UTSW |
7 |
26,449,637 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0022:Nlrp4a
|
UTSW |
7 |
26,444,342 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1088:Nlrp4a
|
UTSW |
7 |
26,454,163 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCAGAAGTTTCTCCTCTTGC -3'
(R):5'- GGTGCCTACCACATATCAAAGC -3'
Sequencing Primer
(F):5'- GAAGTTTCTCCTCTTGCTTGAATAG -3'
(R):5'- TCAAAGCCATGTATGATACAGAGGTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation