Incidental Mutation 'IGL02730:Nlrp4b'
ID |
305405 |
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: 0.065)
|
Stock # |
IGL02730
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
10421720-10464095 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 10448685 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 296
(F296S)
|
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: F296S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043881 Gene: ENSMUSG00000034087 AA Change: F296S
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: F296S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113095 Gene: ENSMUSG00000034087 AA Change: F296S
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
C |
A |
5: 114,304,210 (GRCm39) |
|
probably benign |
Het |
Ankib1 |
A |
T |
5: 3,752,995 (GRCm39) |
V651E |
probably damaging |
Het |
BC051665 |
G |
A |
13: 60,932,826 (GRCm39) |
|
probably benign |
Het |
Ces1d |
C |
T |
8: 93,912,644 (GRCm39) |
G265S |
probably benign |
Het |
Dsg1c |
A |
C |
18: 20,407,887 (GRCm39) |
D411A |
probably damaging |
Het |
Exosc5 |
T |
C |
7: 25,362,622 (GRCm39) |
I70T |
possibly damaging |
Het |
Fgf20 |
T |
A |
8: 40,732,828 (GRCm39) |
L203F |
probably damaging |
Het |
Gpsm1 |
T |
A |
2: 26,215,390 (GRCm39) |
V316E |
probably benign |
Het |
Gtpbp1 |
T |
A |
15: 79,603,372 (GRCm39) |
D620E |
probably benign |
Het |
Hs6st1 |
A |
G |
1: 36,142,709 (GRCm39) |
T215A |
probably damaging |
Het |
Irgm2 |
T |
A |
11: 58,110,816 (GRCm39) |
M169K |
probably benign |
Het |
Kcns3 |
A |
G |
12: 11,142,076 (GRCm39) |
S208P |
probably benign |
Het |
Klra6 |
T |
C |
6: 129,999,660 (GRCm39) |
T103A |
probably benign |
Het |
Lrba |
T |
A |
3: 86,235,506 (GRCm39) |
M870K |
probably damaging |
Het |
Mapk1ip1l |
C |
T |
14: 47,548,377 (GRCm39) |
T175I |
possibly damaging |
Het |
Meig1 |
A |
G |
2: 3,412,947 (GRCm39) |
Y25H |
probably damaging |
Het |
Msh2 |
T |
C |
17: 88,014,643 (GRCm39) |
F474L |
probably damaging |
Het |
Or10d1b |
C |
T |
9: 39,613,534 (GRCm39) |
C177Y |
probably damaging |
Het |
Or12d17 |
T |
A |
17: 37,777,750 (GRCm39) |
Y218N |
probably damaging |
Het |
Or14c40 |
T |
C |
7: 86,313,275 (GRCm39) |
L135P |
probably damaging |
Het |
Or2m12 |
T |
A |
16: 19,105,432 (GRCm39) |
L20F |
probably benign |
Het |
Or5al6 |
C |
T |
2: 85,976,443 (GRCm39) |
V212M |
probably benign |
Het |
Or5w15 |
T |
A |
2: 87,567,985 (GRCm39) |
I228F |
probably damaging |
Het |
Or6z3 |
T |
C |
7: 6,464,123 (GRCm39) |
I205T |
possibly damaging |
Het |
Or8s8 |
A |
G |
15: 98,354,317 (GRCm39) |
N42S |
probably damaging |
Het |
Pds5b |
A |
G |
5: 150,704,217 (GRCm39) |
|
probably benign |
Het |
Plekhg1 |
A |
G |
10: 3,823,242 (GRCm39) |
D70G |
possibly damaging |
Het |
Rubcnl |
C |
T |
14: 75,287,588 (GRCm39) |
T624M |
probably damaging |
Het |
Runx1t1 |
C |
T |
4: 13,860,019 (GRCm39) |
H317Y |
probably benign |
Het |
Sec22a |
T |
C |
16: 35,134,470 (GRCm39) |
D282G |
probably damaging |
Het |
Serpina3a |
T |
C |
12: 104,085,922 (GRCm39) |
F126L |
probably damaging |
Het |
Serpinc1 |
A |
G |
1: 160,827,598 (GRCm39) |
D399G |
probably damaging |
Het |
Sorcs2 |
A |
G |
5: 36,219,896 (GRCm39) |
Y383H |
probably benign |
Het |
Speer3 |
T |
A |
5: 13,843,285 (GRCm39) |
M64K |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Stx1b |
C |
A |
7: 127,414,549 (GRCm39) |
R25L |
probably benign |
Het |
Syt5 |
A |
G |
7: 4,545,356 (GRCm39) |
V181A |
probably damaging |
Het |
Tspoap1 |
G |
T |
11: 87,672,535 (GRCm39) |
V1788F |
probably damaging |
Het |
Vinac1 |
T |
C |
2: 128,880,646 (GRCm39) |
T427A |
possibly damaging |
Het |
Vmn1r233 |
A |
G |
17: 21,214,057 (GRCm39) |
S298P |
possibly damaging |
Het |
Xntrpc |
T |
C |
7: 101,731,319 (GRCm39) |
S353P |
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 |
IGL02539:Nlrp4b
|
APN |
7 |
10,448,355 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |