Incidental Mutation 'R3401:Nlrp4d'
| ID |
259185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp4d
|
| Ensembl Gene |
ENSMUSG00000034122 |
| Gene Name |
NLR family, pyrin domain containing 4D |
| Synonyms |
Nalp-beta, Nalp4d |
| MMRRC Submission |
040620-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3401 (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 10096781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 906
(N906K)
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086269
AA Change: N906K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083450
Gene: ENSMUSG00000034122
AA Change: N906K
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184509
AA Change: C897S
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B3gat1 |
C |
A |
9: 26,667,149 (GRCm39) |
T127K |
probably damaging |
Het |
| Cactin |
G |
A |
10: 81,161,709 (GRCm39) |
R747H |
probably benign |
Het |
| Cul5 |
A |
T |
9: 53,532,512 (GRCm39) |
M747K |
probably benign |
Het |
| Dennd4c |
C |
T |
4: 86,692,780 (GRCm39) |
P97S |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,566,879 (GRCm39) |
V2449A |
probably benign |
Het |
| Eif1ad |
T |
C |
19: 5,418,276 (GRCm39) |
V20A |
probably benign |
Het |
| Faim2 |
C |
T |
15: 99,418,229 (GRCm39) |
V119I |
probably damaging |
Het |
| Fli1 |
G |
A |
9: 32,372,570 (GRCm39) |
S156L |
probably damaging |
Het |
| Gucy1a2 |
T |
A |
9: 3,635,154 (GRCm39) |
D399E |
probably benign |
Het |
| Hip1r |
A |
G |
5: 124,135,046 (GRCm39) |
E394G |
probably damaging |
Het |
| Htr2a |
T |
C |
14: 74,882,499 (GRCm39) |
S162P |
probably damaging |
Het |
| Naip5 |
G |
A |
13: 100,358,411 (GRCm39) |
Q942* |
probably null |
Het |
| Ndrg3 |
C |
T |
2: 156,790,208 (GRCm39) |
V92M |
probably damaging |
Het |
| Pkd2 |
A |
G |
5: 104,628,193 (GRCm39) |
I422M |
possibly damaging |
Het |
| Polr3b |
C |
T |
10: 84,535,355 (GRCm39) |
T888M |
probably damaging |
Het |
| Ppp1r37 |
C |
T |
7: 19,266,712 (GRCm39) |
A392T |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,705,922 (GRCm39) |
T2323A |
possibly damaging |
Het |
| Sntg2 |
A |
G |
12: 30,338,171 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,534,170 (GRCm39) |
I3476V |
probably damaging |
Het |
| Tead2 |
T |
A |
7: 44,873,097 (GRCm39) |
|
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Tmem74 |
C |
T |
15: 43,730,417 (GRCm39) |
V209M |
probably damaging |
Het |
| Trim25 |
T |
C |
11: 88,901,707 (GRCm39) |
M334T |
probably benign |
Het |
| Uprt |
A |
G |
X: 103,549,864 (GRCm39) |
D310G |
probably damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Zfp157 |
T |
A |
5: 138,455,273 (GRCm39) |
N490K |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,917,745 (GRCm39) |
E167G |
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 |
|
R2907:Nlrp4d
|
UTSW |
7 |
10,112,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
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'- GGTGCTCCTTTCCCAAACAC -3'
(R):5'- TTCACAGAGGCTATGGAGTGAG -3'
Sequencing Primer
(F):5'- AGATAGGGTCACTCATCTATCCTGG -3'
(R):5'- CTATGGAGTGAGCATAGTTTAATGAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation