Incidental Mutation 'R3402:Nlrp4d'
ID |
259224 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrp4d
|
Ensembl Gene |
ENSMUSG00000034122 |
Gene Name |
NLR family, pyrin domain containing 4D |
Synonyms |
Nalp-beta, Nalp4d |
MMRRC Submission |
040621-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3402 (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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
97% (30/31) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
A |
T |
5: 89,849,592 (GRCm39) |
F609L |
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,691,661 (GRCm39) |
N1642S |
probably damaging |
Het |
Afdn |
C |
T |
17: 14,104,176 (GRCm39) |
R1156C |
probably damaging |
Het |
Ark2c |
A |
G |
18: 77,652,782 (GRCm39) |
V6A |
probably benign |
Het |
Cactin |
G |
A |
10: 81,161,709 (GRCm39) |
R747H |
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,551,229 (GRCm39) |
E2129G |
probably damaging |
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 |
Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
Etl4 |
A |
T |
2: 20,786,693 (GRCm39) |
H763L |
probably damaging |
Het |
Hip1r |
A |
G |
5: 124,135,046 (GRCm39) |
E394G |
probably damaging |
Het |
Ift25 |
A |
G |
4: 107,130,803 (GRCm39) |
|
probably null |
Het |
Kat2b |
C |
T |
17: 53,972,881 (GRCm39) |
P732S |
probably damaging |
Het |
Myo16 |
A |
G |
8: 10,434,719 (GRCm39) |
N387S |
probably benign |
Het |
Or1ad6 |
A |
G |
11: 50,859,895 (GRCm39) |
I17V |
probably benign |
Het |
Or5b120 |
G |
A |
19: 13,480,312 (GRCm39) |
A202T |
probably benign |
Het |
Pkn1 |
G |
A |
8: 84,396,859 (GRCm39) |
R926W |
probably damaging |
Het |
Ppp1r37 |
C |
T |
7: 19,266,712 (GRCm39) |
A392T |
probably damaging |
Het |
Prkcq |
A |
G |
2: 11,288,660 (GRCm39) |
T538A |
possibly damaging |
Het |
Sel1l2 |
T |
A |
2: 140,082,958 (GRCm39) |
Y560F |
probably damaging |
Het |
Slc6a6 |
A |
G |
6: 91,703,110 (GRCm39) |
H161R |
probably benign |
Het |
Slit2 |
T |
C |
5: 48,440,763 (GRCm39) |
Y1212H |
probably damaging |
Het |
Stk3 |
G |
T |
15: 34,945,144 (GRCm39) |
|
probably benign |
Het |
Tcaf3 |
T |
C |
6: 42,570,787 (GRCm39) |
S322G |
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 |
Unc80 |
A |
T |
1: 66,549,845 (GRCm39) |
E701V |
probably damaging |
Het |
Upk3a |
T |
C |
15: 84,902,384 (GRCm39) |
|
probably null |
Het |
Zfp180 |
G |
A |
7: 23,805,170 (GRCm39) |
V530I |
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 |
|
R3401: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'- TGTTCACAGAGGCTATGGAGTG -3'
Sequencing Primer
(F):5'- AGATAGGGTCACTCATCTATCCTGG -3'
(R):5'- CTATGGAGTGAGCATAGTTTAATGAC -3'
|
Posted On |
2015-01-23 |