Incidental Mutation 'IGL02539:Nlrp4b'
| ID |
297640 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nlrp4b
|
| Ensembl Gene |
ENSMUSG00000034087 |
| Gene Name |
NLR family, pyrin domain containing 4B |
| Synonyms |
Nalp4b, Nalp-gamma |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
IGL02539
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
10421720-10464095 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10448355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 186
(D186G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047809]
[ENSMUST00000117413]
[ENSMUST00000132990]
[ENSMUST00000211069]
|
| AlphaFold |
Q8C6J9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047809
AA Change: D186G
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000043881
Gene: ENSMUSG00000034087
AA Change: D186G
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
89 |
1.4e-20 |
SMART |
|
Pfam:NACHT
|
143 |
312 |
7.9e-40 |
PFAM |
|
low complexity region
|
520 |
535 |
N/A |
INTRINSIC |
|
LRR
|
683 |
710 |
4.9e0 |
SMART |
|
LRR
|
712 |
739 |
1.97e0 |
SMART |
|
LRR
|
740 |
767 |
1.13e-4 |
SMART |
|
LRR
|
769 |
796 |
1.93e1 |
SMART |
|
LRR
|
797 |
824 |
1.73e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117413
AA Change: D186G
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113095
Gene: ENSMUSG00000034087
AA Change: D186G
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
89 |
1.4e-20 |
SMART |
|
Pfam:NACHT
|
143 |
312 |
3.3e-39 |
PFAM |
|
low complexity region
|
520 |
535 |
N/A |
INTRINSIC |
|
LRR
|
683 |
710 |
4.9e0 |
SMART |
|
LRR
|
712 |
739 |
1.97e0 |
SMART |
|
LRR
|
740 |
767 |
1.13e-4 |
SMART |
|
LRR
|
769 |
796 |
1.93e1 |
SMART |
|
LRR
|
797 |
824 |
1.73e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132990
|
| SMART Domains |
Protein: ENSMUSP00000115831
Gene: ENSMUSG00000034087
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
168 |
N/A |
INTRINSIC |
|
LRR
|
316 |
343 |
4.9e0 |
SMART |
|
LRR
|
345 |
372 |
1.97e0 |
SMART |
|
LRR
|
373 |
400 |
1.13e-4 |
SMART |
|
LRR
|
402 |
429 |
1.93e1 |
SMART |
|
LRR
|
430 |
457 |
1.73e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211069
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211258
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211772
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
T |
8: 25,276,229 (GRCm39) |
Y479* |
probably null |
Het |
| Btnl6 |
T |
C |
17: 34,727,288 (GRCm39) |
N414S |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,921,005 (GRCm39) |
N984D |
probably damaging |
Het |
| Cfc1 |
A |
T |
1: 34,576,203 (GRCm39) |
|
probably benign |
Het |
| Chrm1 |
G |
A |
19: 8,655,675 (GRCm39) |
V127M |
probably damaging |
Het |
| Dicer1 |
A |
G |
12: 104,663,294 (GRCm39) |
L1429P |
probably damaging |
Het |
| Erbb3 |
A |
G |
10: 128,420,174 (GRCm39) |
|
probably null |
Het |
| Evi5 |
T |
C |
5: 107,963,531 (GRCm39) |
E348G |
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,172,619 (GRCm39) |
T2698I |
probably damaging |
Het |
| Gas2 |
A |
G |
7: 51,547,038 (GRCm39) |
D63G |
possibly damaging |
Het |
| Gm28042 |
A |
G |
2: 119,865,702 (GRCm39) |
D313G |
probably damaging |
Het |
| Hivep2 |
T |
A |
10: 14,007,622 (GRCm39) |
S1407T |
probably damaging |
Het |
| Ibsp |
T |
A |
5: 104,450,149 (GRCm39) |
M19K |
probably damaging |
Het |
| Itih3 |
C |
T |
14: 30,634,621 (GRCm39) |
D129N |
probably benign |
Het |
| Krtap4-8 |
A |
T |
11: 99,671,196 (GRCm39) |
|
probably benign |
Het |
| Mertk |
A |
G |
2: 128,643,210 (GRCm39) |
T870A |
probably damaging |
Het |
| Mtmr11 |
C |
A |
3: 96,072,308 (GRCm39) |
|
probably benign |
Het |
| Nbas |
C |
A |
12: 13,322,704 (GRCm39) |
|
probably benign |
Het |
| Olfm3 |
A |
G |
3: 114,895,579 (GRCm39) |
I154V |
possibly damaging |
Het |
| Or10a5 |
T |
A |
7: 106,635,641 (GRCm39) |
I93N |
probably damaging |
Het |
| Pdk2 |
T |
C |
11: 94,923,321 (GRCm39) |
K101R |
probably benign |
Het |
| Pds5a |
C |
T |
5: 65,823,462 (GRCm39) |
D110N |
probably damaging |
Het |
| Pex5 |
A |
T |
6: 124,380,183 (GRCm39) |
D288E |
probably benign |
Het |
| Pitrm1 |
A |
G |
13: 6,618,792 (GRCm39) |
D655G |
probably benign |
Het |
| Plcz1 |
T |
C |
6: 139,938,690 (GRCm39) |
N554S |
probably benign |
Het |
| Plin4 |
T |
C |
17: 56,413,680 (GRCm39) |
Q315R |
probably damaging |
Het |
| Plpp5 |
A |
G |
8: 26,214,215 (GRCm39) |
H244R |
probably benign |
Het |
| Ppp1r3a |
C |
T |
6: 14,718,458 (GRCm39) |
V819I |
probably benign |
Het |
| Rap1b |
T |
A |
10: 117,658,709 (GRCm39) |
R41S |
possibly damaging |
Het |
| Rc3h2 |
T |
A |
2: 37,279,727 (GRCm39) |
S501C |
probably benign |
Het |
| Sel1l2 |
G |
T |
2: 140,072,778 (GRCm39) |
A619D |
probably damaging |
Het |
| Ska3 |
T |
C |
14: 58,057,968 (GRCm39) |
D128G |
possibly damaging |
Het |
| Specc1l |
A |
T |
10: 75,103,342 (GRCm39) |
I889L |
probably benign |
Het |
| Ssxb5 |
T |
A |
X: 8,675,087 (GRCm39) |
N130K |
probably damaging |
Het |
| Tanc1 |
G |
T |
2: 59,663,602 (GRCm39) |
G1120C |
probably damaging |
Het |
| Tet1 |
T |
C |
10: 62,648,798 (GRCm39) |
Q267R |
possibly damaging |
Het |
| Tlr8 |
T |
A |
X: 166,027,152 (GRCm39) |
H566L |
possibly damaging |
Het |
| Tmem132d |
T |
A |
5: 127,861,043 (GRCm39) |
Q1026L |
probably benign |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Trp53bp2 |
C |
A |
1: 182,276,256 (GRCm39) |
P746T |
probably damaging |
Het |
| Uso1 |
A |
T |
5: 92,335,632 (GRCm39) |
I547F |
probably damaging |
Het |
| Zfp687 |
A |
C |
3: 94,918,373 (GRCm39) |
N466K |
probably damaging |
Het |
|
| Other mutations in Nlrp4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00971:Nlrp4b
|
APN |
7 |
10,448,882 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01456:Nlrp4b
|
APN |
7 |
10,448,150 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01537:Nlrp4b
|
APN |
7 |
10,448,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02730:Nlrp4b
|
APN |
7 |
10,448,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02871:Nlrp4b
|
APN |
7 |
10,449,192 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL03008:Nlrp4b
|
APN |
7 |
10,448,516 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03109:Nlrp4b
|
APN |
7 |
10,448,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03251:Nlrp4b
|
APN |
7 |
10,448,427 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03354:Nlrp4b
|
APN |
7 |
10,448,465 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0052:Nlrp4b
|
UTSW |
7 |
10,459,889 (GRCm39) |
nonsense |
probably null |
|
|
R0348:Nlrp4b
|
UTSW |
7 |
10,449,108 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0564:Nlrp4b
|
UTSW |
7 |
10,448,585 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0573:Nlrp4b
|
UTSW |
7 |
10,448,142 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0581:Nlrp4b
|
UTSW |
7 |
10,448,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1201:Nlrp4b
|
UTSW |
7 |
10,449,363 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1541:Nlrp4b
|
UTSW |
7 |
10,458,979 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1771:Nlrp4b
|
UTSW |
7 |
10,452,520 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1781:Nlrp4b
|
UTSW |
7 |
10,449,266 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1833:Nlrp4b
|
UTSW |
7 |
10,459,863 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2405:Nlrp4b
|
UTSW |
7 |
10,448,655 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2871:Nlrp4b
|
UTSW |
7 |
10,444,170 (GRCm39) |
nonsense |
probably null |
|
|
R2871:Nlrp4b
|
UTSW |
7 |
10,444,170 (GRCm39) |
nonsense |
probably null |
|
|
R2873:Nlrp4b
|
UTSW |
7 |
10,444,170 (GRCm39) |
nonsense |
probably null |
|
|
R2904:Nlrp4b
|
UTSW |
7 |
10,448,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3410:Nlrp4b
|
UTSW |
7 |
10,449,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3714:Nlrp4b
|
UTSW |
7 |
10,448,808 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3982:Nlrp4b
|
UTSW |
7 |
10,448,358 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4668:Nlrp4b
|
UTSW |
7 |
10,448,660 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4690:Nlrp4b
|
UTSW |
7 |
10,453,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4857:Nlrp4b
|
UTSW |
7 |
10,449,225 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5247:Nlrp4b
|
UTSW |
7 |
10,448,145 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5381:Nlrp4b
|
UTSW |
7 |
10,449,172 (GRCm39) |
nonsense |
probably null |
|
|
R5529:Nlrp4b
|
UTSW |
7 |
10,448,873 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5589:Nlrp4b
|
UTSW |
7 |
10,449,512 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5770:Nlrp4b
|
UTSW |
7 |
10,449,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5990:Nlrp4b
|
UTSW |
7 |
10,448,418 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6049:Nlrp4b
|
UTSW |
7 |
10,448,640 (GRCm39) |
nonsense |
probably null |
|
|
R6329:Nlrp4b
|
UTSW |
7 |
10,458,847 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6377:Nlrp4b
|
UTSW |
7 |
10,449,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7107:Nlrp4b
|
UTSW |
7 |
10,449,144 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7209:Nlrp4b
|
UTSW |
7 |
10,444,297 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7237:Nlrp4b
|
UTSW |
7 |
10,449,143 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7537:Nlrp4b
|
UTSW |
7 |
10,448,816 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7793:Nlrp4b
|
UTSW |
7 |
10,459,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8138:Nlrp4b
|
UTSW |
7 |
10,449,458 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8190:Nlrp4b
|
UTSW |
7 |
10,448,319 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8326:Nlrp4b
|
UTSW |
7 |
10,452,471 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8353:Nlrp4b
|
UTSW |
7 |
10,449,528 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8417:Nlrp4b
|
UTSW |
7 |
10,459,880 (GRCm39) |
nonsense |
probably null |
|
|
R8453:Nlrp4b
|
UTSW |
7 |
10,449,528 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8998:Nlrp4b
|
UTSW |
7 |
10,449,629 (GRCm39) |
missense |
probably null |
0.00 |
|
R9002:Nlrp4b
|
UTSW |
7 |
10,448,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Nlrp4b
|
UTSW |
7 |
10,459,870 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9073:Nlrp4b
|
UTSW |
7 |
10,459,870 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9258:Nlrp4b
|
UTSW |
7 |
10,444,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9373:Nlrp4b
|
UTSW |
7 |
10,449,126 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9525:Nlrp4b
|
UTSW |
7 |
10,448,748 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9604:Nlrp4b
|
UTSW |
7 |
10,444,295 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9670:Nlrp4b
|
UTSW |
7 |
10,448,651 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9679:Nlrp4b
|
UTSW |
7 |
10,449,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0063:Nlrp4b
|
UTSW |
7 |
10,463,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation