Incidental Mutation 'R4970:Nlrp3'
| ID |
384403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp3
|
| Ensembl Gene |
ENSMUSG00000032691 |
| Gene Name |
NLR family, pyrin domain containing 3 |
| Synonyms |
Mmig1, Cias1, NALP3, cryopyrin, Pypaf1 |
| MMRRC Submission |
042565-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R4970 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
59432395-59457781 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59439554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 377
(Y377F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079476]
[ENSMUST00000101148]
[ENSMUST00000149126]
|
| AlphaFold |
Q8R4B8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079476
AA Change: Y377F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078440
Gene: ENSMUSG00000032691
AA Change: Y377F
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
4 |
87 |
6.39e-33 |
SMART |
|
FISNA
|
135 |
206 |
1.45e-22 |
SMART |
|
Pfam:NACHT
|
216 |
385 |
6.7e-52 |
PFAM |
|
low complexity region
|
533 |
539 |
N/A |
INTRINSIC |
|
low complexity region
|
688 |
697 |
N/A |
INTRINSIC |
|
LRR_RI
|
737 |
764 |
1.07e-9 |
SMART |
|
LRR
|
766 |
793 |
5.13e1 |
SMART |
|
LRR
|
794 |
821 |
3.86e-7 |
SMART |
|
LRR
|
823 |
850 |
1.62e0 |
SMART |
|
LRR
|
851 |
878 |
3.39e-3 |
SMART |
|
LRR
|
880 |
907 |
1.2e2 |
SMART |
|
LRR
|
908 |
935 |
2.24e-3 |
SMART |
|
LRR
|
937 |
964 |
2.16e2 |
SMART |
|
LRR
|
965 |
992 |
8.73e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101148
AA Change: Y377F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098707
Gene: ENSMUSG00000032691
AA Change: Y377F
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
4 |
87 |
6.39e-33 |
SMART |
|
FISNA
|
135 |
206 |
1.45e-22 |
SMART |
|
Pfam:NACHT
|
216 |
385 |
6.7e-52 |
PFAM |
|
low complexity region
|
533 |
539 |
N/A |
INTRINSIC |
|
low complexity region
|
688 |
697 |
N/A |
INTRINSIC |
|
LRR_RI
|
737 |
764 |
1.07e-9 |
SMART |
|
LRR
|
766 |
793 |
5.13e1 |
SMART |
|
LRR
|
794 |
821 |
3.86e-7 |
SMART |
|
LRR
|
823 |
850 |
1.62e0 |
SMART |
|
LRR
|
851 |
878 |
3.39e-3 |
SMART |
|
LRR
|
880 |
907 |
1.2e2 |
SMART |
|
LRR
|
908 |
935 |
2.24e-3 |
SMART |
|
LRR
|
937 |
964 |
2.16e2 |
SMART |
|
LRR
|
965 |
992 |
8.73e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149126
|
| SMART Domains |
Protein: ENSMUSP00000114231
Gene: ENSMUSG00000032691
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
4 |
87 |
6.39e-33 |
SMART |
|
Pfam:FISNA
|
135 |
173 |
1.6e-12 |
PFAM |
|
| Meta Mutation Damage Score |
0.9181 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
99% (114/115) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NALP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, and neonatal-onset multisystem inflammatory disease (NOMID). Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for null mutations exhibit attenuated inflammatory responses related to decrease secretion of IL-1beta and IL-18. Mice heterozygous for activating mutations suffer from autoinflammatory attacks that lead to organ failure and death before weaning. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(13) : Targeted(9) Chemically induced(4)
|
| Other mutations in this stock |
Total: 101 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700128F08Rik |
A |
G |
9: 8,222,066 (GRCm39) |
|
noncoding transcript |
Het |
| Aars1 |
A |
G |
8: 111,770,311 (GRCm39) |
M370V |
probably benign |
Het |
| Abca2 |
A |
G |
2: 25,328,383 (GRCm39) |
K846R |
probably damaging |
Het |
| Acad9 |
A |
T |
3: 36,139,674 (GRCm39) |
I425F |
probably damaging |
Het |
| Adhfe1 |
C |
A |
1: 9,628,463 (GRCm39) |
D278E |
possibly damaging |
Het |
| Afg3l1 |
G |
A |
8: 124,225,392 (GRCm39) |
V532I |
probably benign |
Het |
| Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
| Ano7 |
G |
A |
1: 93,325,085 (GRCm39) |
V546M |
possibly damaging |
Het |
| Aox1 |
G |
A |
1: 58,349,254 (GRCm39) |
|
probably null |
Het |
| Asah1 |
G |
T |
8: 41,813,314 (GRCm39) |
S33* |
probably null |
Het |
| Astn1 |
C |
T |
1: 158,484,763 (GRCm39) |
S15F |
possibly damaging |
Het |
| Bag4 |
A |
T |
8: 26,261,272 (GRCm39) |
Y156* |
probably null |
Het |
| Bmpr1b |
T |
C |
3: 141,550,948 (GRCm39) |
E381G |
probably damaging |
Het |
| Btnl7-ps |
A |
G |
17: 34,756,092 (GRCm39) |
|
noncoding transcript |
Het |
| Caap1 |
A |
T |
4: 94,409,297 (GRCm39) |
|
probably null |
Het |
| Card10 |
C |
T |
15: 78,686,580 (GRCm39) |
|
probably null |
Het |
| Ccp110 |
T |
C |
7: 118,321,614 (GRCm39) |
V423A |
possibly damaging |
Het |
| Cdc123 |
A |
G |
2: 5,809,748 (GRCm39) |
L221P |
possibly damaging |
Het |
| Cdh19 |
A |
G |
1: 110,882,354 (GRCm39) |
V46A |
possibly damaging |
Het |
| Cfap57 |
A |
G |
4: 118,477,568 (GRCm39) |
F12S |
probably damaging |
Het |
| Clvs1 |
A |
G |
4: 9,350,857 (GRCm39) |
|
probably benign |
Het |
| Dgkh |
A |
T |
14: 78,856,077 (GRCm39) |
V199E |
probably damaging |
Het |
| Dhx32 |
T |
A |
7: 133,340,384 (GRCm39) |
|
probably benign |
Het |
| Dpf3 |
G |
T |
12: 83,417,385 (GRCm39) |
S29* |
probably null |
Het |
| Efcab7 |
C |
A |
4: 99,719,780 (GRCm39) |
S87R |
probably damaging |
Het |
| Fam81a |
G |
A |
9: 70,000,872 (GRCm39) |
Q291* |
probably null |
Het |
| Fbxo41 |
G |
T |
6: 85,454,906 (GRCm39) |
N667K |
probably damaging |
Het |
| Flacc1 |
T |
C |
1: 58,698,441 (GRCm39) |
T326A |
probably benign |
Het |
| Gm10313 |
A |
T |
8: 46,708,462 (GRCm39) |
|
noncoding transcript |
Het |
| Gm28051 |
G |
A |
12: 102,686,430 (GRCm39) |
Q77* |
probably null |
Het |
| Gm5535 |
T |
A |
2: 144,016,569 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2ird1 |
A |
T |
5: 134,431,038 (GRCm39) |
D339E |
probably damaging |
Het |
| Gvin3 |
A |
T |
7: 106,199,864 (GRCm39) |
|
noncoding transcript |
Het |
| Igfbp7 |
A |
G |
5: 77,555,608 (GRCm39) |
M85T |
possibly damaging |
Het |
| Il20ra |
A |
G |
10: 19,634,691 (GRCm39) |
T311A |
possibly damaging |
Het |
| Il24 |
T |
C |
1: 130,811,179 (GRCm39) |
|
probably null |
Het |
| Itch |
T |
C |
2: 155,027,513 (GRCm39) |
F379L |
possibly damaging |
Het |
| Itgad |
T |
A |
7: 127,789,015 (GRCm39) |
V488D |
possibly damaging |
Het |
| Itpr2 |
A |
T |
6: 146,135,489 (GRCm39) |
M1814K |
possibly damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,855,735 (GRCm39) |
E92G |
possibly damaging |
Het |
| Lpin2 |
T |
C |
17: 71,538,329 (GRCm39) |
V325A |
probably damaging |
Het |
| Lrba |
C |
T |
3: 86,132,678 (GRCm39) |
T28M |
probably benign |
Het |
| Lrch3 |
T |
C |
16: 32,818,883 (GRCm39) |
Y661H |
probably damaging |
Het |
| Lrfn5 |
C |
A |
12: 61,886,461 (GRCm39) |
S83Y |
probably damaging |
Het |
| Lrp1 |
A |
C |
10: 127,375,389 (GRCm39) |
L4435R |
probably benign |
Het |
| Lrrn1 |
A |
G |
6: 107,546,305 (GRCm39) |
D701G |
probably benign |
Het |
| Map4k3 |
A |
T |
17: 80,961,332 (GRCm39) |
Y125N |
probably benign |
Het |
| Mau2 |
A |
T |
8: 70,480,353 (GRCm39) |
H273Q |
possibly damaging |
Het |
| Med16 |
A |
C |
10: 79,742,871 (GRCm39) |
|
probably null |
Het |
| Mmp17 |
A |
G |
5: 129,679,229 (GRCm39) |
H376R |
possibly damaging |
Het |
| Nlrp12 |
G |
A |
7: 3,289,613 (GRCm39) |
H300Y |
possibly damaging |
Het |
| Notch2 |
T |
C |
3: 98,008,952 (GRCm39) |
|
probably null |
Het |
| Nudcd1 |
A |
T |
15: 44,240,039 (GRCm39) |
C500* |
probably null |
Het |
| Or52z14 |
T |
C |
7: 103,253,197 (GRCm39) |
I112T |
probably damaging |
Het |
| Or5d37 |
A |
G |
2: 87,923,353 (GRCm39) |
V309A |
probably damaging |
Het |
| Or6b6 |
T |
A |
7: 106,570,778 (GRCm39) |
M258L |
probably benign |
Het |
| Or8g23 |
A |
T |
9: 38,971,827 (GRCm39) |
M45K |
probably benign |
Het |
| Or8h9 |
A |
T |
2: 86,789,698 (GRCm39) |
Y35N |
probably damaging |
Het |
| Pcdhb20 |
T |
A |
18: 37,639,824 (GRCm39) |
N783K |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,727,896 (GRCm39) |
|
probably benign |
Het |
| Pdyn |
T |
A |
2: 129,530,021 (GRCm39) |
D216V |
probably damaging |
Het |
| Phldb3 |
A |
T |
7: 24,324,110 (GRCm39) |
I495F |
possibly damaging |
Het |
| Pmpca |
A |
T |
2: 26,285,178 (GRCm39) |
I468F |
probably damaging |
Het |
| Pmpcb |
G |
A |
5: 21,961,441 (GRCm39) |
R399H |
probably damaging |
Het |
| Polrmt |
G |
T |
10: 79,572,421 (GRCm39) |
H1145N |
probably damaging |
Het |
| Proser1 |
A |
G |
3: 53,371,727 (GRCm39) |
D11G |
probably damaging |
Het |
| Ptprc |
A |
G |
1: 138,022,037 (GRCm39) |
S544P |
probably damaging |
Het |
| Ptprn2 |
G |
A |
12: 117,240,215 (GRCm39) |
E991K |
probably damaging |
Het |
| Pwp2 |
A |
C |
10: 78,009,527 (GRCm39) |
L797R |
possibly damaging |
Het |
| Rbm20 |
G |
A |
19: 53,840,100 (GRCm39) |
A1030T |
probably damaging |
Het |
| Rdh7 |
T |
C |
10: 127,721,691 (GRCm39) |
Y195C |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,699,326 (GRCm39) |
D1274E |
probably benign |
Het |
| Scfd2 |
G |
T |
5: 74,366,982 (GRCm39) |
H639Q |
probably benign |
Het |
| Sell |
T |
A |
1: 163,892,887 (GRCm39) |
H34Q |
possibly damaging |
Het |
| Senp8 |
A |
C |
9: 59,644,504 (GRCm39) |
D204E |
probably benign |
Het |
| Setd2 |
A |
G |
9: 110,377,226 (GRCm39) |
D347G |
probably benign |
Het |
| Sh2b1 |
T |
A |
7: 126,067,975 (GRCm39) |
R560W |
probably damaging |
Het |
| Slc36a3 |
T |
A |
11: 55,039,399 (GRCm39) |
K76N |
probably damaging |
Het |
| Slc6a9 |
A |
T |
4: 117,713,205 (GRCm39) |
Y60F |
probably damaging |
Het |
| Slfn10-ps |
C |
T |
11: 82,921,207 (GRCm39) |
|
noncoding transcript |
Het |
| Spata31d1d |
G |
A |
13: 59,875,334 (GRCm39) |
H734Y |
probably benign |
Het |
| Spmip10 |
G |
T |
18: 56,725,494 (GRCm39) |
M46I |
possibly damaging |
Het |
| Spsb1 |
T |
A |
4: 149,991,612 (GRCm39) |
|
probably benign |
Het |
| Sptbn5 |
T |
A |
2: 119,882,258 (GRCm39) |
|
noncoding transcript |
Het |
| Sugp2 |
G |
A |
8: 70,712,462 (GRCm39) |
V1026I |
possibly damaging |
Het |
| Syt14 |
T |
A |
1: 192,613,285 (GRCm39) |
|
probably benign |
Het |
| Sytl1 |
G |
A |
4: 132,982,893 (GRCm39) |
Q373* |
probably null |
Het |
| Trim38 |
T |
A |
13: 23,975,312 (GRCm39) |
L417Q |
probably damaging |
Het |
| Ttll1 |
T |
C |
15: 83,380,597 (GRCm39) |
H256R |
probably damaging |
Het |
| Ttyh2 |
A |
T |
11: 114,587,583 (GRCm39) |
T195S |
probably benign |
Het |
| Unc119b |
A |
G |
5: 115,263,553 (GRCm39) |
L217P |
probably damaging |
Het |
| Usp6nl |
A |
G |
2: 6,425,714 (GRCm39) |
K152E |
probably benign |
Het |
| Vcam1 |
T |
C |
3: 115,910,941 (GRCm39) |
R486G |
probably benign |
Het |
| Vmn1r225 |
G |
A |
17: 20,722,831 (GRCm39) |
G91S |
possibly damaging |
Het |
| Vmn2r1 |
A |
C |
3: 63,997,544 (GRCm39) |
Q400P |
possibly damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,314,422 (GRCm39) |
L388Q |
probably damaging |
Het |
| Wnk1 |
A |
T |
6: 119,942,696 (GRCm39) |
|
probably benign |
Het |
| Zfp239 |
A |
G |
6: 117,847,478 (GRCm39) |
|
probably benign |
Het |
| Zfp688 |
T |
C |
7: 127,018,327 (GRCm39) |
Y266C |
probably damaging |
Het |
| Zfp850 |
A |
T |
7: 27,689,658 (GRCm39) |
C183* |
probably null |
Het |
| Zscan29 |
T |
C |
2: 120,999,676 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Nlrp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Nlrp3
|
APN |
11 |
59,456,769 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00573:Nlrp3
|
APN |
11 |
59,455,942 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01025:Nlrp3
|
APN |
11 |
59,442,713 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL01637:Nlrp3
|
APN |
11 |
59,440,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02010:Nlrp3
|
APN |
11 |
59,440,361 (GRCm39) |
missense |
probably benign |
|
|
IGL02334:Nlrp3
|
APN |
11 |
59,455,909 (GRCm39) |
missense |
probably benign |
|
|
IGL02417:Nlrp3
|
APN |
11 |
59,456,849 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02578:Nlrp3
|
APN |
11 |
59,439,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02710:Nlrp3
|
APN |
11 |
59,456,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02816:Nlrp3
|
APN |
11 |
59,446,608 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03157:Nlrp3
|
APN |
11 |
59,440,372 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03334:Nlrp3
|
APN |
11 |
59,439,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Flogiston
|
UTSW |
11 |
59,449,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
nd1
|
UTSW |
11 |
59,456,800 (GRCm39) |
missense |
probably benign |
0.45 |
|
Nd14
|
UTSW |
11 |
59,446,701 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Nd3
|
UTSW |
11 |
59,456,800 (GRCm39) |
missense |
probably benign |
0.45 |
|
nd5
|
UTSW |
11 |
59,456,705 (GRCm39) |
missense |
probably benign |
0.01 |
|
nd6
|
UTSW |
11 |
59,440,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
nd7
|
UTSW |
11 |
59,446,701 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Nd9
|
UTSW |
11 |
59,440,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Park2
|
UTSW |
11 |
59,455,954 (GRCm39) |
nonsense |
probably null |
|
|
Park3
|
UTSW |
11 |
59,456,676 (GRCm39) |
missense |
probably benign |
0.02 |
|
Park4
|
UTSW |
11 |
59,440,357 (GRCm39) |
missense |
probably benign |
0.19 |
|
Park5
|
UTSW |
11 |
59,439,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Park6
|
UTSW |
11 |
59,439,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Park7
|
UTSW |
11 |
59,438,836 (GRCm39) |
nonsense |
probably null |
|
|
Park8
|
UTSW |
11 |
59,457,025 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0008:Nlrp3
|
UTSW |
11 |
59,449,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0008:Nlrp3
|
UTSW |
11 |
59,449,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0052:Nlrp3
|
UTSW |
11 |
59,455,954 (GRCm39) |
nonsense |
probably null |
|
|
R0362:Nlrp3
|
UTSW |
11 |
59,439,623 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0416:Nlrp3
|
UTSW |
11 |
59,446,750 (GRCm39) |
splice site |
probably benign |
|
|
R0649:Nlrp3
|
UTSW |
11 |
59,439,368 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0740:Nlrp3
|
UTSW |
11 |
59,439,082 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0863:Nlrp3
|
UTSW |
11 |
59,456,676 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1300:Nlrp3
|
UTSW |
11 |
59,446,594 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1414:Nlrp3
|
UTSW |
11 |
59,440,357 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1622:Nlrp3
|
UTSW |
11 |
59,439,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1654:Nlrp3
|
UTSW |
11 |
59,433,949 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1715:Nlrp3
|
UTSW |
11 |
59,434,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1754:Nlrp3
|
UTSW |
11 |
59,449,228 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1837:Nlrp3
|
UTSW |
11 |
59,439,742 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1905:Nlrp3
|
UTSW |
11 |
59,439,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2281:Nlrp3
|
UTSW |
11 |
59,439,962 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4296:Nlrp3
|
UTSW |
11 |
59,440,487 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4305:Nlrp3
|
UTSW |
11 |
59,438,836 (GRCm39) |
nonsense |
probably null |
|
|
R4540:Nlrp3
|
UTSW |
11 |
59,442,725 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4591:Nlrp3
|
UTSW |
11 |
59,440,048 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4816:Nlrp3
|
UTSW |
11 |
59,439,127 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4913:Nlrp3
|
UTSW |
11 |
59,440,064 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5051:Nlrp3
|
UTSW |
11 |
59,457,025 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5112:Nlrp3
|
UTSW |
11 |
59,439,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5185:Nlrp3
|
UTSW |
11 |
59,455,910 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5417:Nlrp3
|
UTSW |
11 |
59,439,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5709:Nlrp3
|
UTSW |
11 |
59,446,574 (GRCm39) |
nonsense |
probably null |
|
|
R5869:Nlrp3
|
UTSW |
11 |
59,438,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5898:Nlrp3
|
UTSW |
11 |
59,437,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5953:Nlrp3
|
UTSW |
11 |
59,437,617 (GRCm39) |
missense |
probably benign |
|
|
R5979:Nlrp3
|
UTSW |
11 |
59,439,797 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6359:Nlrp3
|
UTSW |
11 |
59,439,392 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6723:Nlrp3
|
UTSW |
11 |
59,456,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7261:Nlrp3
|
UTSW |
11 |
59,439,272 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7349:Nlrp3
|
UTSW |
11 |
59,438,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7388:Nlrp3
|
UTSW |
11 |
59,455,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7715:Nlrp3
|
UTSW |
11 |
59,433,829 (GRCm39) |
splice site |
probably null |
|
|
R7916:Nlrp3
|
UTSW |
11 |
59,442,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8222:Nlrp3
|
UTSW |
11 |
59,439,614 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8360:Nlrp3
|
UTSW |
11 |
59,440,229 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8390:Nlrp3
|
UTSW |
11 |
59,442,616 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8550:Nlrp3
|
UTSW |
11 |
59,440,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8738:Nlrp3
|
UTSW |
11 |
59,440,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8940:Nlrp3
|
UTSW |
11 |
59,455,870 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8990:Nlrp3
|
UTSW |
11 |
59,439,584 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9324:Nlrp3
|
UTSW |
11 |
59,434,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9673:Nlrp3
|
UTSW |
11 |
59,440,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF031:Nlrp3
|
UTSW |
11 |
59,449,378 (GRCm39) |
frame shift |
probably null |
|
|
RF040:Nlrp3
|
UTSW |
11 |
59,449,378 (GRCm39) |
frame shift |
probably null |
|
|
Z1088:Nlrp3
|
UTSW |
11 |
59,442,686 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGACTGGCAAAAGGCTGTG -3'
(R):5'- AGAGATGCTCCTCAATGCCC -3'
Sequencing Primer
(F):5'- TGCGGGGAGACATTCTGCTAAG -3'
(R):5'- ACGTAGACGGCCGTAGTG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation