Incidental Mutation 'R5641:Nlrp4a'
| ID |
440670 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp4a
|
| Ensembl Gene |
ENSMUSG00000040601 |
| Gene Name |
NLR family, pyrin domain containing 4A |
| Synonyms |
E330028A19Rik, Nalp-eta, Nalp4a |
| Accession Numbers |
Genbank: NM_172896; MGI: 2443697
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R5641 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
26435113-26476142 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26450164 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 399
(C399S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068767]
[ENSMUST00000119386]
[ENSMUST00000146907]
|
| AlphaFold |
Q8BU40 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068767
AA Change: C399S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066841
Gene: ENSMUSG00000040601
AA Change: C399S
| 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 damaging
Transcript: ENSMUST00000119386
AA Change: C399S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112441
Gene: ENSMUSG00000040601
AA Change: C399S
| 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 damaging
Transcript: ENSMUST00000146907
AA Change: C399S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
T |
16: 14,472,013 |
M1398L |
probably benign |
Het |
| Acad12 |
A |
G |
5: 121,604,021 |
|
probably benign |
Het |
| Aldh1a7 |
T |
C |
19: 20,715,929 |
I209V |
probably benign |
Het |
| Alkal2 |
G |
A |
12: 30,887,265 |
|
probably null |
Het |
| Aqr |
A |
G |
2: 114,149,034 |
F307L |
probably damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,457,576 |
L932P |
probably damaging |
Het |
| Atxn7 |
T |
C |
14: 14,013,638 |
M113T |
probably damaging |
Het |
| Blzf1 |
T |
A |
1: 164,306,469 |
M4L |
probably benign |
Het |
| Brca2 |
C |
A |
5: 150,556,899 |
S2711R |
probably damaging |
Het |
| Bzw1 |
A |
T |
1: 58,397,724 |
Q70L |
probably damaging |
Het |
| Cd34 |
T |
A |
1: 194,947,968 |
I70N |
probably benign |
Het |
| Chac1 |
A |
G |
2: 119,351,518 |
Y39C |
probably damaging |
Het |
| Col6a2 |
G |
C |
10: 76,613,278 |
P275A |
probably damaging |
Het |
| Crb1 |
T |
A |
1: 139,248,889 |
N452I |
probably damaging |
Het |
| Ctrc |
T |
C |
4: 141,838,783 |
N188S |
probably damaging |
Het |
| Dnah7b |
G |
A |
1: 46,268,764 |
|
probably null |
Het |
| Etl4 |
GGGGAAGAACCGG |
GGG |
2: 20,806,462 |
|
probably null |
Het |
| Exoc6 |
T |
A |
19: 37,587,633 |
|
probably null |
Het |
| Gm5616 |
T |
A |
9: 48,450,416 |
|
noncoding transcript |
Het |
| Gm7535 |
T |
C |
17: 17,911,526 |
|
probably benign |
Het |
| Hnrnpr |
T |
C |
4: 136,332,487 |
S200P |
probably damaging |
Het |
| Ighg2b |
T |
C |
12: 113,307,147 |
N121S |
unknown |
Het |
| Il21 |
T |
A |
3: 37,227,768 |
K76* |
probably null |
Het |
| Jup |
T |
A |
11: 100,376,806 |
T564S |
possibly damaging |
Het |
| Kcns2 |
G |
C |
15: 34,839,053 |
R187S |
possibly damaging |
Het |
| Klhl18 |
G |
A |
9: 110,446,828 |
T84M |
probably damaging |
Het |
| Mtor |
T |
A |
4: 148,546,425 |
L2280M |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,421,836 |
I226T |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,366,712 |
Y126N |
possibly damaging |
Het |
| Nphp3 |
A |
G |
9: 104,036,153 |
K54E |
probably damaging |
Het |
| Nsun2 |
T |
A |
13: 69,623,249 |
V326E |
probably benign |
Het |
| Olfr725 |
A |
G |
14: 50,035,289 |
I38T |
probably benign |
Het |
| Oosp3 |
T |
C |
19: 11,697,173 |
|
probably null |
Het |
| Pcdhga9 |
T |
C |
18: 37,738,248 |
S377P |
probably damaging |
Het |
| Pdlim3 |
A |
G |
8: 45,915,263 |
|
probably null |
Het |
| Pla2r1 |
A |
T |
2: 60,514,984 |
W343R |
probably damaging |
Het |
| Prox2 |
A |
G |
12: 85,087,947 |
V520A |
probably benign |
Het |
| Rfx3 |
T |
C |
19: 27,793,608 |
|
probably null |
Het |
| Rif1 |
A |
C |
2: 52,121,158 |
R2412S |
possibly damaging |
Het |
| Rreb1 |
T |
C |
13: 37,947,421 |
L1517P |
probably benign |
Het |
| Rxfp1 |
T |
C |
3: 79,686,892 |
N65S |
probably damaging |
Het |
| Sbf2 |
T |
C |
7: 110,438,901 |
E399G |
probably damaging |
Het |
| Slc36a4 |
A |
C |
9: 15,728,802 |
|
probably null |
Het |
| Slco1a1 |
A |
T |
6: 141,939,969 |
M110K |
probably damaging |
Het |
| Stat5a |
T |
A |
11: 100,876,808 |
C401S |
probably benign |
Het |
| Ticam1 |
TCACACA |
TCACA |
17: 56,270,629 |
|
probably null |
Het |
| Tmem150c |
T |
C |
5: 100,083,664 |
T151A |
probably damaging |
Het |
| Ube4a |
A |
T |
9: 44,950,881 |
M173K |
probably damaging |
Het |
| Vmn1r188 |
A |
T |
13: 22,088,172 |
S99C |
probably damaging |
Het |
| Vmn2r70 |
C |
T |
7: 85,559,364 |
C635Y |
probably damaging |
Het |
| Zfp644 |
T |
C |
5: 106,619,595 |
K24E |
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 |
|
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 |
|
|
R8477:Nlrp4a
|
UTSW |
7 |
26,459,794 (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'- AGCCTTCAGTCTGGTGAGAG -3'
(R):5'- CCTCCTGAACAGATGGATGG -3'
Sequencing Primer
(F):5'- AATGAGCAGCTGTTCACTGTATGTC -3'
(R):5'- GGATGTCAGAGTCCATGATC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation