Incidental Mutation 'R2907:Nlrp4d'
| ID |
261691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp4d
|
| Ensembl Gene |
ENSMUSG00000034122 |
| Gene Name |
NLR family, pyrin domain containing 4D |
| Synonyms |
Nalp-beta, Nalp4d |
| MMRRC Submission |
040494-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2907 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
10092800-10122862 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 10112354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 605
(V605E)
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086269
AA Change: V605E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000083450
Gene: ENSMUSG00000034122
AA Change: V605E
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
89 |
2.6e-31 |
SMART |
|
Pfam:NACHT
|
150 |
318 |
2.4e-34 |
PFAM |
|
low complexity region
|
575 |
586 |
N/A |
INTRINSIC |
|
LRR
|
674 |
701 |
1.3e-1 |
SMART |
|
Blast:LRR
|
703 |
729 |
8e-7 |
BLAST |
|
LRR
|
730 |
756 |
2.1e-2 |
SMART |
|
LRR
|
758 |
785 |
2.1e-1 |
SMART |
|
LRR
|
786 |
813 |
1.6e-5 |
SMART |
|
LRR
|
814 |
837 |
3.5e-1 |
SMART |
|
LRR
|
838 |
865 |
2.7e-6 |
SMART |
|
LRR
|
867 |
894 |
7.2e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182420
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
97% (37/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
A |
G |
5: 137,565,559 (GRCm39) |
E385G |
probably damaging |
Het |
| Adam32 |
A |
T |
8: 25,353,520 (GRCm39) |
W690R |
probably damaging |
Het |
| Ap1b1 |
T |
A |
11: 4,981,641 (GRCm39) |
N516K |
probably damaging |
Het |
| Arap3 |
G |
A |
18: 38,123,580 (GRCm39) |
P452L |
possibly damaging |
Het |
| Armcx6 |
A |
T |
X: 133,650,199 (GRCm39) |
C211S |
probably damaging |
Het |
| Asns |
A |
G |
6: 7,675,506 (GRCm39) |
S499P |
probably benign |
Het |
| Aspn |
G |
T |
13: 49,705,374 (GRCm39) |
V79F |
probably damaging |
Het |
| Astn2 |
A |
G |
4: 65,563,093 (GRCm39) |
I844T |
possibly damaging |
Het |
| Asxl3 |
A |
T |
18: 22,650,330 (GRCm39) |
H773L |
possibly damaging |
Het |
| Atp7b |
G |
A |
8: 22,501,570 (GRCm39) |
T781I |
probably damaging |
Het |
| Bcl6 |
G |
A |
16: 23,786,869 (GRCm39) |
R641W |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 47,874,449 (GRCm39) |
I612F |
probably damaging |
Het |
| Dnm1l |
A |
T |
16: 16,132,175 (GRCm39) |
S666T |
probably damaging |
Het |
| Gucy2c |
A |
T |
6: 136,685,385 (GRCm39) |
V852E |
probably damaging |
Het |
| H2-T3 |
G |
A |
17: 36,498,347 (GRCm39) |
R233C |
possibly damaging |
Het |
| Igfbp4 |
A |
G |
11: 98,932,377 (GRCm39) |
|
probably benign |
Het |
| Igkv16-104 |
T |
C |
6: 68,402,911 (GRCm39) |
I68T |
probably damaging |
Het |
| Kansl1 |
T |
A |
11: 104,315,286 (GRCm39) |
S251C |
possibly damaging |
Het |
| Kcnk1 |
G |
T |
8: 126,722,538 (GRCm39) |
V114L |
probably benign |
Het |
| Klra3 |
G |
T |
6: 130,310,302 (GRCm39) |
Q73K |
probably damaging |
Het |
| Mcpt1 |
T |
C |
14: 56,257,580 (GRCm39) |
V242A |
probably damaging |
Het |
| Nek10 |
C |
A |
14: 14,980,613 (GRCm38) |
Q990K |
possibly damaging |
Het |
| Or10w1 |
C |
T |
19: 13,632,611 (GRCm39) |
P268S |
possibly damaging |
Het |
| Or5an1b |
T |
C |
19: 12,300,032 (GRCm39) |
D53G |
probably damaging |
Het |
| Or5d46 |
T |
C |
2: 88,170,827 (GRCm39) |
I306T |
probably benign |
Het |
| Osbpl1a |
A |
G |
18: 13,004,129 (GRCm39) |
|
probably benign |
Het |
| Otud4 |
T |
A |
8: 80,399,697 (GRCm39) |
S803T |
probably benign |
Het |
| Pax9 |
C |
T |
12: 56,756,529 (GRCm39) |
T289I |
probably benign |
Het |
| Pcdha5 |
A |
C |
18: 37,093,868 (GRCm39) |
I126L |
possibly damaging |
Het |
| Psmd4 |
G |
T |
3: 94,941,273 (GRCm39) |
A55E |
probably damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rbm26 |
T |
A |
14: 105,380,270 (GRCm39) |
T516S |
probably benign |
Het |
| Sdr42e1 |
G |
A |
8: 118,389,511 (GRCm39) |
L377F |
probably damaging |
Het |
| Setdb1 |
T |
C |
3: 95,234,512 (GRCm39) |
|
probably benign |
Het |
| Uba3 |
T |
C |
6: 97,180,514 (GRCm39) |
E21G |
probably benign |
Het |
| Uggt2 |
C |
T |
14: 119,256,919 (GRCm39) |
S1105N |
probably benign |
Het |
| Zfp113 |
T |
C |
5: 138,143,219 (GRCm39) |
N344D |
probably benign |
Het |
| Zfp738 |
T |
C |
13: 67,818,231 (GRCm39) |
I587V |
probably benign |
Het |
|
| Other mutations in Nlrp4d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00981:Nlrp4d
|
APN |
7 |
10,116,021 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL01076:Nlrp4d
|
APN |
7 |
10,106,010 (GRCm39) |
missense |
unknown |
0.00 |
|
IGL01656:Nlrp4d
|
APN |
7 |
10,098,074 (GRCm39) |
missense |
noncoding transcript |
|
|
IGL01889:Nlrp4d
|
APN |
7 |
10,112,261 (GRCm39) |
missense |
unknown |
0.00 |
|
IGL02110:Nlrp4d
|
APN |
7 |
10,116,491 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL02271:Nlrp4d
|
APN |
7 |
10,122,625 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL02637:Nlrp4d
|
APN |
7 |
10,116,482 (GRCm39) |
exon |
noncoding transcript |
|
|
snoop
|
UTSW |
7 |
10,108,818 (GRCm39) |
missense |
probably benign |
0.02 |
|
1mM(1):Nlrp4d
|
UTSW |
7 |
10,115,640 (GRCm39) |
missense |
probably benign |
0.09 |
|
F5493:Nlrp4d
|
UTSW |
7 |
10,115,011 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03048:Nlrp4d
|
UTSW |
7 |
10,092,881 (GRCm39) |
unclassified |
noncoding transcript |
|
|
R0116:Nlrp4d
|
UTSW |
7 |
10,108,818 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0125:Nlrp4d
|
UTSW |
7 |
10,116,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0390:Nlrp4d
|
UTSW |
7 |
10,122,705 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0452:Nlrp4d
|
UTSW |
7 |
10,112,219 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0595:Nlrp4d
|
UTSW |
7 |
10,114,972 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0729:Nlrp4d
|
UTSW |
7 |
10,111,612 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0733:Nlrp4d
|
UTSW |
7 |
10,116,449 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1147:Nlrp4d
|
UTSW |
7 |
10,122,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1217:Nlrp4d
|
UTSW |
7 |
10,098,194 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1378:Nlrp4d
|
UTSW |
7 |
10,098,111 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1414:Nlrp4d
|
UTSW |
7 |
10,116,528 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1583:Nlrp4d
|
UTSW |
7 |
10,116,164 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1585:Nlrp4d
|
UTSW |
7 |
10,116,437 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1882:Nlrp4d
|
UTSW |
7 |
10,116,604 (GRCm39) |
critical splice acceptor site |
noncoding transcript |
|
|
R2422:Nlrp4d
|
UTSW |
7 |
10,096,872 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2964:Nlrp4d
|
UTSW |
7 |
10,112,256 (GRCm39) |
nonsense |
probably null |
|
|
R2974:Nlrp4d
|
UTSW |
7 |
10,112,367 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R3401:Nlrp4d
|
UTSW |
7 |
10,096,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3402:Nlrp4d
|
UTSW |
7 |
10,096,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4240:Nlrp4d
|
UTSW |
7 |
10,115,243 (GRCm39) |
missense |
noncoding transcript |
|
|
R4682:Nlrp4d
|
UTSW |
7 |
10,108,879 (GRCm39) |
missense |
noncoding transcript |
|
|
R4766:Nlrp4d
|
UTSW |
7 |
10,096,706 (GRCm39) |
critical splice donor site |
unknown |
|
|
R4864:Nlrp4d
|
UTSW |
7 |
10,115,088 (GRCm39) |
missense |
noncoding transcript |
|
|
R4910:Nlrp4d
|
UTSW |
7 |
10,112,336 (GRCm39) |
exon |
noncoding transcript |
|
|
R5307:Nlrp4d
|
UTSW |
7 |
10,096,709 (GRCm39) |
nonsense |
probably null |
|
|
R5596:Nlrp4d
|
UTSW |
7 |
10,115,951 (GRCm39) |
missense |
noncoding transcript |
|
|
R5857:Nlrp4d
|
UTSW |
7 |
10,116,304 (GRCm39) |
missense |
noncoding transcript |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCTGTGACAGGACTATATCAAGTC -3'
(R):5'- GTGCTGTGAATTGCTTGACTTAAC -3'
Sequencing Primer
(F):5'- GACCTGAAAGACTTGCTC -3'
(R):5'- GCTTGTACACAGTGTGCATACAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation