Incidental Mutation 'IGL03008:Nlrp4b'
| ID |
407633 |
| 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 # |
IGL03008
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
10421720-10464095 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 10448516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 240
(Q240K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047809]
[ENSMUST00000117413]
[ENSMUST00000132990]
[ENSMUST00000211069]
|
| AlphaFold |
Q8C6J9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047809
AA Change: Q240K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000043881
Gene: ENSMUSG00000034087
AA Change: Q240K
| 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 benign
Transcript: ENSMUST00000117413
AA Change: Q240K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000113095
Gene: ENSMUSG00000034087
AA Change: Q240K
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aga |
T |
C |
8: 53,964,861 (GRCm39) |
S8P |
probably benign |
Het |
| Ankrd34c |
C |
T |
9: 89,612,337 (GRCm39) |
M1I |
probably null |
Het |
| Ankrd44 |
T |
C |
1: 54,805,968 (GRCm39) |
H146R |
probably damaging |
Het |
| Bst1 |
A |
G |
5: 43,983,604 (GRCm39) |
|
probably null |
Het |
| Btbd8 |
T |
G |
5: 107,639,464 (GRCm39) |
|
probably null |
Het |
| Cdh12 |
A |
T |
15: 21,480,416 (GRCm39) |
I211F |
probably damaging |
Het |
| Cenpj |
G |
T |
14: 56,764,406 (GRCm39) |
D1335E |
probably benign |
Het |
| Clpx |
G |
A |
9: 65,230,057 (GRCm39) |
V502I |
possibly damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,500,222 (GRCm39) |
S505P |
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,262,131 (GRCm39) |
|
probably benign |
Het |
| Cped1 |
A |
G |
6: 22,233,601 (GRCm39) |
Q819R |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,805,759 (GRCm39) |
E2190G |
possibly damaging |
Het |
| Ctsa |
G |
A |
2: 164,679,368 (GRCm39) |
R359Q |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,813,623 (GRCm39) |
|
probably benign |
Het |
| Dab1 |
G |
T |
4: 104,584,777 (GRCm39) |
V306F |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,050,876 (GRCm39) |
I438V |
probably benign |
Het |
| Eif4g3 |
G |
T |
4: 137,847,699 (GRCm39) |
G380W |
probably damaging |
Het |
| Exd1 |
T |
A |
2: 119,350,862 (GRCm39) |
K466N |
probably benign |
Het |
| Eya3 |
A |
C |
4: 132,434,294 (GRCm39) |
D325A |
probably damaging |
Het |
| Fmn1 |
A |
G |
2: 113,195,445 (GRCm39) |
T382A |
unknown |
Het |
| Fry |
T |
A |
5: 150,269,021 (GRCm39) |
D106E |
possibly damaging |
Het |
| Gm21957 |
T |
A |
7: 124,818,733 (GRCm39) |
|
noncoding transcript |
Het |
| Gm44511 |
A |
G |
6: 128,761,059 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
A |
G |
2: 79,155,982 (GRCm39) |
I983V |
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,058,675 (GRCm39) |
D5E |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,511,293 (GRCm39) |
E225G |
unknown |
Het |
| Ltbp4 |
G |
T |
7: 27,023,789 (GRCm39) |
N747K |
probably damaging |
Het |
| Minar1 |
A |
G |
9: 89,478,731 (GRCm39) |
Y772H |
probably damaging |
Het |
| Mlh3 |
T |
C |
12: 85,287,625 (GRCm39) |
Q1308R |
probably benign |
Het |
| Mtfr2 |
T |
A |
10: 20,229,185 (GRCm39) |
C63S |
possibly damaging |
Het |
| Myh11 |
T |
A |
16: 14,022,617 (GRCm39) |
M1661L |
probably benign |
Het |
| Myo1c |
T |
C |
11: 75,549,240 (GRCm39) |
M137T |
probably benign |
Het |
| Myocd |
A |
C |
11: 65,078,392 (GRCm39) |
L340V |
probably damaging |
Het |
| Napsa |
A |
T |
7: 44,235,220 (GRCm39) |
Q335L |
possibly damaging |
Het |
| Npepps |
A |
C |
11: 97,128,984 (GRCm39) |
F400C |
probably damaging |
Het |
| Nxpe4 |
A |
T |
9: 48,304,738 (GRCm39) |
E275V |
probably benign |
Het |
| Ofd1 |
T |
C |
X: 165,192,530 (GRCm39) |
D501G |
probably benign |
Het |
| Or13a19 |
T |
C |
7: 139,903,445 (GRCm39) |
Y278H |
probably damaging |
Het |
| Or4f6 |
A |
G |
2: 111,838,868 (GRCm39) |
I221T |
possibly damaging |
Het |
| Or5p79 |
T |
G |
7: 108,221,490 (GRCm39) |
L157R |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,678 (GRCm39) |
M136K |
probably damaging |
Het |
| P2ry1 |
A |
T |
3: 60,910,947 (GRCm39) |
T29S |
probably benign |
Het |
| Papss1 |
T |
C |
3: 131,290,860 (GRCm39) |
V201A |
possibly damaging |
Het |
| Paxip1 |
A |
G |
5: 27,957,764 (GRCm39) |
V864A |
probably benign |
Het |
| Pcdhgc5 |
T |
A |
18: 37,954,887 (GRCm39) |
H720Q |
probably benign |
Het |
| Pdxdc1 |
T |
C |
16: 13,694,023 (GRCm39) |
N133S |
possibly damaging |
Het |
| Prkar1a |
T |
C |
11: 109,544,690 (GRCm39) |
I27T |
probably damaging |
Het |
| Rnf10 |
G |
T |
5: 115,389,355 (GRCm39) |
H271N |
possibly damaging |
Het |
| Scn9a |
A |
G |
2: 66,392,855 (GRCm39) |
S246P |
probably damaging |
Het |
| Sertad2 |
G |
T |
11: 20,597,798 (GRCm39) |
|
probably benign |
Het |
| Slc22a27 |
A |
G |
19: 7,887,067 (GRCm39) |
I274T |
possibly damaging |
Het |
| Slc22a5 |
A |
T |
11: 53,782,058 (GRCm39) |
V103E |
probably damaging |
Het |
| Slc5a9 |
A |
T |
4: 111,748,138 (GRCm39) |
F225I |
probably benign |
Het |
| Slc6a3 |
G |
A |
13: 73,706,404 (GRCm39) |
|
probably null |
Het |
| Smcr8 |
A |
G |
11: 60,669,287 (GRCm39) |
E145G |
probably damaging |
Het |
| Spen |
A |
T |
4: 141,203,448 (GRCm39) |
D1726E |
possibly damaging |
Het |
| Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
| Stag1 |
A |
T |
9: 100,658,844 (GRCm39) |
N144Y |
probably damaging |
Het |
| Strada |
T |
C |
11: 106,061,783 (GRCm39) |
H156R |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tas2r138 |
A |
C |
6: 40,590,116 (GRCm39) |
D43E |
probably damaging |
Het |
| Tdpoz3 |
A |
T |
3: 93,733,642 (GRCm39) |
K106* |
probably null |
Het |
| Trbv13-1 |
A |
G |
6: 41,093,229 (GRCm39) |
D54G |
probably damaging |
Het |
| Ttc39b |
A |
G |
4: 83,165,932 (GRCm39) |
V218A |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,611,203 (GRCm39) |
T15697I |
probably damaging |
Het |
| Ugt2b38 |
G |
A |
5: 87,560,282 (GRCm39) |
T344I |
probably benign |
Het |
| Vmn2r94 |
T |
C |
17: 18,477,908 (GRCm39) |
M168V |
probably benign |
Het |
| Wdr11 |
T |
C |
7: 129,208,715 (GRCm39) |
|
probably benign |
Het |
| Wipf2 |
T |
C |
11: 98,783,554 (GRCm39) |
|
probably benign |
Het |
| Zranb2 |
T |
A |
3: 157,252,302 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation