Incidental Mutation 'R0595:Nlrp4d'
| ID |
55059 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp4d
|
| Ensembl Gene |
ENSMUSG00000034122 |
| Gene Name |
NLR family, pyrin domain containing 4D |
| Synonyms |
Nalp-beta, Nalp4d |
| MMRRC Submission |
038785-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0595 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
10092800-10122862 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 10114972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 581
(K581N)
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086269
AA Change: K581N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000083450
Gene: ENSMUSG00000034122
AA Change: K581N
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.5%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,790,417 (GRCm39) |
D1093E |
probably damaging |
Het |
| Aldh2 |
G |
T |
5: 121,711,563 (GRCm39) |
A276D |
probably damaging |
Het |
| Aldh2 |
C |
T |
5: 121,711,564 (GRCm39) |
A276T |
probably damaging |
Het |
| Aldh7a1 |
C |
T |
18: 56,679,965 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
C |
T |
7: 144,143,890 (GRCm39) |
R964H |
possibly damaging |
Het |
| Apob |
G |
A |
12: 8,058,369 (GRCm39) |
V2251I |
probably benign |
Het |
| Atp6v1e1 |
A |
G |
6: 120,778,091 (GRCm39) |
V148A |
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,408,111 (GRCm39) |
H73Q |
probably benign |
Het |
| Brca1 |
A |
G |
11: 101,415,713 (GRCm39) |
V807A |
probably benign |
Het |
| Cacna1b |
C |
T |
2: 24,540,001 (GRCm39) |
|
probably benign |
Het |
| Cadps2 |
A |
T |
6: 23,321,703 (GRCm39) |
|
probably null |
Het |
| Cep152 |
T |
C |
2: 125,436,983 (GRCm39) |
Q519R |
probably damaging |
Het |
| Cep295 |
A |
C |
9: 15,243,487 (GRCm39) |
Y1608* |
probably null |
Het |
| Cfap54 |
T |
C |
10: 92,720,598 (GRCm39) |
I2619V |
unknown |
Het |
| Dnajb9 |
A |
G |
12: 44,255,067 (GRCm39) |
V7A |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,851,408 (GRCm39) |
K1358R |
unknown |
Het |
| Fbxw7 |
C |
A |
3: 84,884,674 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
T |
C |
2: 82,777,296 (GRCm39) |
Y108H |
probably damaging |
Het |
| Ggt6 |
T |
A |
11: 72,328,493 (GRCm39) |
L331Q |
probably damaging |
Het |
| Ifitm1 |
T |
A |
7: 140,548,242 (GRCm39) |
I25N |
possibly damaging |
Het |
| Krt75 |
C |
T |
15: 101,476,789 (GRCm39) |
E367K |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,206,950 (GRCm39) |
Y487C |
probably damaging |
Het |
| Map3k6 |
G |
T |
4: 132,968,574 (GRCm39) |
G59W |
probably damaging |
Het |
| Mme |
A |
G |
3: 63,235,602 (GRCm39) |
T129A |
probably benign |
Het |
| Mmp10 |
G |
A |
9: 7,508,199 (GRCm39) |
E442K |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,235,672 (GRCm39) |
S646P |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,535,917 (GRCm39) |
I2889N |
probably benign |
Het |
| Nr3c2 |
C |
T |
8: 77,636,233 (GRCm39) |
P445S |
possibly damaging |
Het |
| Or5p63 |
A |
T |
7: 107,810,868 (GRCm39) |
N289K |
probably damaging |
Het |
| Pck1 |
T |
A |
2: 172,998,822 (GRCm39) |
V360E |
probably damaging |
Het |
| Plekha7 |
T |
C |
7: 115,744,203 (GRCm39) |
D766G |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,614,156 (GRCm39) |
N1236S |
probably damaging |
Het |
| Prkdc |
A |
C |
16: 15,625,952 (GRCm39) |
Q3326P |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,073,189 (GRCm39) |
M57T |
probably damaging |
Het |
| Rb1 |
A |
T |
14: 73,511,120 (GRCm39) |
F330I |
probably damaging |
Het |
| Rufy4 |
A |
G |
1: 74,180,089 (GRCm39) |
E448G |
possibly damaging |
Het |
| Scn10a |
T |
A |
9: 119,495,129 (GRCm39) |
M371L |
probably benign |
Het |
| Sgta |
T |
C |
10: 80,884,742 (GRCm39) |
D189G |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,864,091 (GRCm39) |
H413R |
probably benign |
Het |
| Stau2 |
T |
C |
1: 16,510,674 (GRCm39) |
T95A |
probably damaging |
Het |
| Supt4a |
C |
T |
11: 87,633,982 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,605,003 (GRCm39) |
|
probably null |
Het |
| Tap2 |
T |
A |
17: 34,431,328 (GRCm39) |
V422D |
probably damaging |
Het |
| Tas2r138 |
A |
G |
6: 40,589,799 (GRCm39) |
L149P |
probably damaging |
Het |
| Tex15 |
T |
C |
8: 34,062,645 (GRCm39) |
S692P |
probably damaging |
Het |
| Tgm2 |
C |
T |
2: 157,984,962 (GRCm39) |
R48H |
probably damaging |
Het |
| Ticrr |
T |
A |
7: 79,345,311 (GRCm39) |
F1725L |
possibly damaging |
Het |
| Tnpo2 |
T |
A |
8: 85,778,670 (GRCm39) |
C672* |
probably null |
Het |
| Xkr9 |
A |
G |
1: 13,771,008 (GRCm39) |
I175V |
probably benign |
Het |
| Zfp428 |
T |
A |
7: 24,214,803 (GRCm39) |
S140T |
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 |
|
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 |
|
|
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'- TGTACCATTACCAATCAAGTTGACAGCC -3'
(R):5'- GTTGTGTCAGTGCCTGAAAACCATAAG -3'
Sequencing Primer
(F):5'- TGAGCACTTGCCATTGGAC -3'
(R):5'- GAGTTGGATGATGAAGCCTTCTTAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation