Incidental Mutation 'R1147:Nlrp4d'
ID |
165160 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrp4d
|
Ensembl Gene |
ENSMUSG00000034122 |
Gene Name |
NLR family, pyrin domain containing 4D |
Synonyms |
Nalp-beta, Nalp4d |
MMRRC Submission |
039220-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1147 (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 10122644 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 73
(N73K)
|
Gene Model |
predicted gene model for transcript(s):
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086269
AA Change: N73K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000083450 Gene: ENSMUSG00000034122 AA Change: N73K
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: 98.3%
- 10x: 96.0%
- 20x: 91.6%
|
Validation Efficiency |
98% (47/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam20 |
T |
C |
8: 41,248,655 (GRCm39) |
I255T |
possibly damaging |
Het |
Aknad1 |
T |
A |
3: 108,659,857 (GRCm39) |
N290K |
possibly damaging |
Het |
Ano8 |
C |
A |
8: 71,934,661 (GRCm39) |
V447F |
probably damaging |
Het |
Arhgef12 |
C |
T |
9: 42,955,552 (GRCm39) |
|
probably benign |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Ash1l |
A |
T |
3: 88,892,194 (GRCm39) |
M1358L |
possibly damaging |
Het |
Ccdc110 |
A |
G |
8: 46,397,121 (GRCm39) |
K837E |
possibly damaging |
Het |
Cd19 |
T |
A |
7: 126,010,217 (GRCm39) |
D384V |
possibly damaging |
Het |
Ces1f |
C |
T |
8: 93,984,909 (GRCm39) |
V473I |
possibly damaging |
Het |
Chd6 |
C |
T |
2: 160,832,191 (GRCm39) |
E994K |
probably damaging |
Het |
Col5a2 |
G |
T |
1: 45,415,931 (GRCm39) |
N1405K |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,379,426 (GRCm39) |
D3720G |
probably damaging |
Het |
Dsel |
T |
C |
1: 111,789,939 (GRCm39) |
T199A |
possibly damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Flacc1 |
A |
T |
1: 58,708,622 (GRCm39) |
Y215N |
probably damaging |
Het |
Hrg |
G |
T |
16: 22,779,754 (GRCm39) |
C344F |
probably damaging |
Het |
Htt |
T |
C |
5: 35,008,596 (GRCm39) |
Y1462H |
probably damaging |
Het |
Kcnh2 |
T |
A |
5: 24,529,385 (GRCm39) |
I784F |
probably damaging |
Het |
Kifc3 |
T |
C |
8: 95,864,546 (GRCm39) |
T55A |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lsamp |
G |
A |
16: 41,994,499 (GRCm39) |
|
probably benign |
Het |
Meis3 |
G |
A |
7: 15,917,701 (GRCm39) |
|
probably benign |
Het |
Oog3 |
A |
G |
4: 143,884,982 (GRCm39) |
F318S |
possibly damaging |
Het |
Or2a20 |
A |
T |
6: 43,194,146 (GRCm39) |
T100S |
probably damaging |
Het |
Or52w1 |
G |
A |
7: 105,018,484 (GRCm39) |
R308Q |
probably benign |
Het |
Pde5a |
C |
T |
3: 122,587,962 (GRCm39) |
T376M |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,400,837 (GRCm39) |
I2204V |
probably null |
Het |
Ppp1r13l |
A |
G |
7: 19,109,772 (GRCm39) |
D731G |
probably damaging |
Het |
Prob1 |
G |
A |
18: 35,787,859 (GRCm39) |
Q132* |
probably null |
Het |
Ptk6 |
C |
T |
2: 180,837,590 (GRCm39) |
G443D |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Ptprs |
T |
C |
17: 56,730,504 (GRCm39) |
D749G |
probably damaging |
Het |
Ralgapa1 |
A |
T |
12: 55,749,265 (GRCm39) |
D1212E |
probably damaging |
Het |
Rsad1 |
T |
C |
11: 94,434,966 (GRCm39) |
Y290C |
probably damaging |
Het |
Scamp1 |
A |
G |
13: 94,361,394 (GRCm39) |
|
probably null |
Het |
Slc6a11 |
T |
A |
6: 114,221,831 (GRCm39) |
I507N |
possibly damaging |
Het |
Stx18 |
T |
G |
5: 38,284,267 (GRCm39) |
|
probably benign |
Het |
Sybu |
A |
T |
15: 44,609,651 (GRCm39) |
F78I |
probably damaging |
Het |
Tecpr2 |
T |
G |
12: 110,907,872 (GRCm39) |
|
probably benign |
Het |
Tox |
A |
T |
4: 6,823,055 (GRCm39) |
N87K |
possibly damaging |
Het |
Trrap |
G |
A |
5: 144,741,576 (GRCm39) |
G1308R |
probably damaging |
Het |
Trub2 |
A |
G |
2: 29,677,644 (GRCm39) |
|
probably benign |
Het |
Vmn2r114 |
A |
T |
17: 23,530,037 (GRCm39) |
H123Q |
probably benign |
Het |
Vmn2r15 |
T |
A |
5: 109,441,072 (GRCm39) |
Y262F |
probably damaging |
Het |
Vmn2r33 |
C |
T |
7: 7,557,144 (GRCm39) |
E519K |
probably benign |
Het |
Zfat |
A |
T |
15: 68,084,432 (GRCm39) |
|
probably benign |
Het |
Zfp106 |
A |
T |
2: 120,351,017 (GRCm39) |
C1545S |
probably damaging |
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 |
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'- TCCTTCCTCAAGGAGAAGAATATCCCC -3'
(R):5'- TGCTTACCTGATTTTCCCACAGATACG -3'
Sequencing Primer
(F):5'- GAAGAATATCCCCTTCCCCCTG -3'
(R):5'- CATCTTCATTAGACACGATGGC -3'
|
Posted On |
2014-03-28 |