Incidental Mutation 'R2974:Nlrp4d'
| ID |
255318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp4d
|
| Ensembl Gene |
ENSMUSG00000034122 |
| Gene Name |
NLR family, pyrin domain containing 4D |
| Synonyms |
Nalp-beta, Nalp4d |
| MMRRC Submission |
040527-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2974 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
10092800-10122862 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 10112367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086269
|
| SMART Domains |
Protein: ENSMUSP00000083450
Gene: ENSMUSG00000034122
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
G |
10: 79,844,801 (GRCm39) |
F1508V |
probably damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,953,358 (GRCm39) |
T428A |
probably benign |
Het |
| BC048507 |
T |
C |
13: 68,011,749 (GRCm39) |
I42T |
probably benign |
Het |
| Cop1 |
A |
G |
1: 159,152,499 (GRCm39) |
H583R |
possibly damaging |
Het |
| Crnkl1 |
A |
G |
2: 145,774,181 (GRCm39) |
L94P |
probably benign |
Het |
| Cstdc2 |
T |
C |
2: 148,692,706 (GRCm39) |
D32G |
probably benign |
Het |
| Ctu1 |
A |
G |
7: 43,325,074 (GRCm39) |
|
probably benign |
Het |
| D930007J09Rik |
C |
T |
13: 32,986,742 (GRCm39) |
|
probably benign |
Het |
| Depdc5 |
T |
C |
5: 33,091,361 (GRCm39) |
|
probably null |
Het |
| Dnah14 |
A |
T |
1: 181,582,806 (GRCm39) |
|
probably null |
Het |
| Dpp10 |
A |
G |
1: 123,339,434 (GRCm39) |
|
probably benign |
Het |
| Gsdme |
A |
G |
6: 50,206,304 (GRCm39) |
C180R |
probably damaging |
Het |
| Gse1 |
C |
A |
8: 121,297,636 (GRCm39) |
|
probably benign |
Het |
| Med15 |
T |
C |
16: 17,470,575 (GRCm39) |
Y744C |
probably damaging |
Het |
| Nyap2 |
C |
T |
1: 81,169,485 (GRCm39) |
R81* |
probably null |
Het |
| Or4p21 |
A |
T |
2: 88,276,918 (GRCm39) |
C121* |
probably null |
Het |
| Or8g30 |
T |
C |
9: 39,230,292 (GRCm39) |
N206S |
probably damaging |
Het |
| Phax |
T |
A |
18: 56,706,134 (GRCm39) |
M8K |
probably benign |
Het |
| Plec |
C |
G |
15: 76,072,961 (GRCm39) |
G631R |
probably damaging |
Het |
| Rgs3 |
A |
T |
4: 62,558,957 (GRCm39) |
T476S |
probably damaging |
Het |
| Rogdi |
G |
T |
16: 4,829,526 (GRCm39) |
Q90K |
probably damaging |
Het |
| Rxrg |
G |
A |
1: 167,466,715 (GRCm39) |
R422H |
probably damaging |
Het |
| Serpinb9e |
T |
A |
13: 33,439,126 (GRCm39) |
V184E |
probably benign |
Het |
| Simc1 |
A |
G |
13: 54,698,274 (GRCm39) |
D397G |
probably damaging |
Het |
| Slc25a27 |
T |
C |
17: 43,964,262 (GRCm39) |
N203D |
probably damaging |
Het |
| Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
| Sptlc3 |
A |
G |
2: 139,431,581 (GRCm39) |
T368A |
probably damaging |
Het |
| Tnip1 |
C |
T |
11: 54,824,809 (GRCm39) |
|
probably benign |
Het |
| Tpgs1 |
A |
G |
10: 79,505,449 (GRCm39) |
E69G |
probably damaging |
Het |
| Trpv5 |
T |
C |
6: 41,630,165 (GRCm39) |
S642G |
possibly damaging |
Het |
| Ube2d2a |
T |
A |
18: 35,933,225 (GRCm39) |
D87E |
possibly damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,678,830 (GRCm39) |
V798A |
probably damaging |
Het |
| Vmn2r77 |
T |
C |
7: 86,452,893 (GRCm39) |
Y537H |
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 |
|
|
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'- TTCTGTGACAGGACTATATCAAGTC -3'
(R):5'- ACACTGTATGGGCAGTCAGTTTG -3'
Sequencing Primer
(F):5'- GACCTGAAAGACTTGCTC -3'
(R):5'- GCTTGTACACAGTGTGCATACAG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation