Incidental Mutation 'R4682:Nlrp4d'
| ID |
350079 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp4d
|
| Ensembl Gene |
ENSMUSG00000034122 |
| Gene Name |
NLR family, pyrin domain containing 4D |
| Synonyms |
Nalp-beta, Nalp4d |
| MMRRC Submission |
041934-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4682 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
10092800-10122862 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10108879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 731
(T731A)
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182420
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184509
AA Change: T731A
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
94% (45/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
A |
G |
2: 128,505,925 (GRCm39) |
V637A |
probably benign |
Het |
| Aurkc |
G |
A |
7: 6,998,538 (GRCm39) |
V33M |
probably null |
Het |
| Crybg2 |
CTTCCAGAGCCATGGACCCATCTTTTCCA |
CTTCCA |
4: 133,800,029 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,898,961 (GRCm39) |
S810R |
probably benign |
Het |
| Dpm2 |
C |
T |
2: 32,462,290 (GRCm39) |
|
probably benign |
Het |
| Fgb |
A |
T |
3: 82,950,572 (GRCm39) |
F394Y |
probably benign |
Het |
| Fry |
A |
G |
5: 150,346,219 (GRCm39) |
Y1576C |
probably damaging |
Het |
| Gabra4 |
T |
C |
5: 71,815,152 (GRCm39) |
M1V |
probably null |
Het |
| Grhl1 |
T |
G |
12: 24,658,432 (GRCm39) |
V359G |
probably benign |
Het |
| Hdac5 |
T |
C |
11: 102,097,456 (GRCm39) |
S158G |
probably null |
Het |
| Hdgfl1 |
T |
C |
13: 26,953,230 (GRCm39) |
E281G |
possibly damaging |
Het |
| Igfn1 |
T |
C |
1: 135,926,363 (GRCm39) |
E29G |
probably benign |
Het |
| Inpp1 |
T |
C |
1: 52,833,760 (GRCm39) |
N112S |
probably benign |
Het |
| Itih1 |
C |
A |
14: 30,659,800 (GRCm39) |
A279S |
probably damaging |
Het |
| Mad1l1 |
A |
T |
5: 140,286,007 (GRCm39) |
M296K |
possibly damaging |
Het |
| Mark4 |
T |
C |
7: 19,179,097 (GRCm39) |
|
probably null |
Het |
| Mrpl48 |
T |
A |
7: 100,198,576 (GRCm39) |
D192V |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
| Nckap5 |
A |
T |
1: 126,030,279 (GRCm39) |
|
probably null |
Het |
| Or4d6 |
T |
C |
19: 12,086,049 (GRCm39) |
Y287C |
probably damaging |
Het |
| Pcyt1b |
C |
A |
X: 92,789,970 (GRCm39) |
P318H |
probably damaging |
Het |
| Plekhm3 |
T |
C |
1: 64,977,086 (GRCm39) |
D128G |
possibly damaging |
Het |
| Ppp1r9a |
A |
G |
6: 4,905,477 (GRCm39) |
T11A |
possibly damaging |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Rnf138 |
T |
A |
18: 21,143,791 (GRCm39) |
Y112N |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,377,362 (GRCm39) |
V442E |
probably benign |
Het |
| Slc36a4 |
C |
A |
9: 15,638,144 (GRCm39) |
S190* |
probably null |
Het |
| Slc46a1 |
A |
G |
11: 78,359,502 (GRCm39) |
K378R |
possibly damaging |
Het |
| Snai2 |
T |
C |
16: 14,526,150 (GRCm39) |
V267A |
probably benign |
Het |
| Srrm2 |
T |
A |
17: 24,034,666 (GRCm39) |
S533T |
probably benign |
Het |
| St6galnac4 |
T |
A |
2: 32,484,111 (GRCm39) |
M103K |
probably damaging |
Het |
| Tap2 |
C |
A |
17: 34,433,006 (GRCm39) |
Y429* |
probably null |
Het |
| Traf7 |
T |
C |
17: 24,732,348 (GRCm39) |
K159E |
probably damaging |
Het |
| Zfp111 |
T |
G |
7: 23,898,563 (GRCm39) |
K349N |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,011,376 (GRCm39) |
Y1114C |
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 |
|
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 |
|
|
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'- TTGAATGCTGCTACTCTGAGC -3'
(R):5'- TTCTGTGATGTCCCAAGCC -3'
Sequencing Primer
(F):5'- TCTGAGCATAGAAAATATTCCTACCC -3'
(R):5'- TGTCCCAAGCCTTCAGGAGTATAAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation