Incidental Mutation 'IGL03354:Nlrp4b'
| ID |
419838 |
| 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 # |
IGL03354
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
10421720-10464095 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 10448465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 223
(I223F)
|
| 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: I223F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000043881
Gene: ENSMUSG00000034087
AA Change: I223F
| 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: I223F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113095
Gene: ENSMUSG00000034087
AA Change: I223F
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
G |
A |
5: 138,645,041 (GRCm39) |
A309T |
possibly damaging |
Het |
| Abca15 |
C |
A |
7: 119,993,711 (GRCm39) |
Y1310* |
probably null |
Het |
| Adad1 |
G |
T |
3: 37,160,322 (GRCm39) |
C552F |
probably damaging |
Het |
| Adam22 |
A |
G |
5: 8,208,890 (GRCm39) |
S180P |
possibly damaging |
Het |
| Anxa10 |
A |
T |
8: 62,549,778 (GRCm39) |
D22E |
probably damaging |
Het |
| Astn1 |
T |
C |
1: 158,516,174 (GRCm39) |
S1255P |
probably damaging |
Het |
| Bhlhe41 |
T |
C |
6: 145,809,929 (GRCm39) |
T92A |
probably damaging |
Het |
| Bicc1 |
G |
A |
10: 70,782,432 (GRCm39) |
P603S |
probably benign |
Het |
| Camk2d |
T |
C |
3: 126,590,615 (GRCm39) |
|
probably null |
Het |
| Ccdc136 |
T |
A |
6: 29,419,102 (GRCm39) |
I808N |
probably damaging |
Het |
| Cd200r3 |
C |
T |
16: 44,773,960 (GRCm39) |
A124V |
possibly damaging |
Het |
| Cfap70 |
T |
C |
14: 20,482,050 (GRCm39) |
E310G |
probably damaging |
Het |
| Cyp2d12 |
A |
T |
15: 82,443,162 (GRCm39) |
D357V |
probably damaging |
Het |
| Dnah7b |
G |
A |
1: 46,124,849 (GRCm39) |
V173I |
probably damaging |
Het |
| Dnajb4 |
T |
A |
3: 151,892,115 (GRCm39) |
E239D |
probably benign |
Het |
| Dzip1 |
G |
A |
14: 119,149,981 (GRCm39) |
|
probably benign |
Het |
| Emp2 |
A |
G |
16: 10,103,429 (GRCm39) |
I74T |
probably damaging |
Het |
| Ermn |
T |
G |
2: 57,942,634 (GRCm39) |
E32A |
probably benign |
Het |
| F10 |
C |
A |
8: 13,095,089 (GRCm39) |
T82N |
probably benign |
Het |
| Fam227a |
T |
C |
15: 79,520,951 (GRCm39) |
D295G |
possibly damaging |
Het |
| Gm527 |
T |
A |
12: 64,969,154 (GRCm39) |
F194I |
probably damaging |
Het |
| Gmcl1 |
G |
A |
6: 86,703,140 (GRCm39) |
T98M |
probably damaging |
Het |
| Gucy2g |
T |
C |
19: 55,221,512 (GRCm39) |
R330G |
possibly damaging |
Het |
| H1f4 |
C |
T |
13: 23,806,060 (GRCm39) |
|
probably benign |
Het |
| Kif1a |
T |
C |
1: 92,987,957 (GRCm39) |
H549R |
probably damaging |
Het |
| Klhl14 |
T |
A |
18: 21,784,785 (GRCm39) |
D214V |
probably damaging |
Het |
| Lipo2 |
A |
G |
19: 33,708,270 (GRCm39) |
F248S |
probably benign |
Het |
| Mctp2 |
C |
T |
7: 71,810,992 (GRCm39) |
V661I |
probably benign |
Het |
| Myh15 |
A |
T |
16: 48,992,373 (GRCm39) |
M1616L |
probably benign |
Het |
| Or1j18 |
A |
T |
2: 36,624,524 (GRCm39) |
S64C |
possibly damaging |
Het |
| Or1j18 |
G |
T |
2: 36,624,525 (GRCm39) |
S64I |
possibly damaging |
Het |
| Or2ad1 |
T |
C |
13: 21,326,654 (GRCm39) |
Y191C |
probably damaging |
Het |
| Or2ag2 |
A |
G |
7: 106,485,307 (GRCm39) |
V239A |
probably benign |
Het |
| Or2b28 |
T |
C |
13: 21,531,686 (GRCm39) |
V196A |
possibly damaging |
Het |
| Or4c3d |
A |
C |
2: 89,881,911 (GRCm39) |
C252W |
probably damaging |
Het |
| Or5p80 |
T |
A |
7: 108,229,735 (GRCm39) |
C179S |
possibly damaging |
Het |
| Or5w1b |
T |
C |
2: 87,475,939 (GRCm39) |
N176S |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,161,893 (GRCm39) |
D116G |
probably damaging |
Het |
| Pibf1 |
A |
G |
14: 99,388,174 (GRCm39) |
D440G |
probably benign |
Het |
| Plekho2 |
T |
C |
9: 65,466,703 (GRCm39) |
E129G |
probably null |
Het |
| Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
| Rars1 |
A |
G |
11: 35,715,302 (GRCm39) |
L248P |
probably damaging |
Het |
| Ruvbl1 |
C |
A |
6: 88,456,197 (GRCm39) |
Y90* |
probably null |
Het |
| Schip1 |
A |
G |
3: 68,402,298 (GRCm39) |
D125G |
possibly damaging |
Het |
| Skic3 |
T |
C |
13: 76,330,941 (GRCm39) |
V1457A |
possibly damaging |
Het |
| Smarca2 |
T |
C |
19: 26,597,303 (GRCm39) |
S62P |
probably benign |
Het |
| Sort1 |
T |
C |
3: 108,256,022 (GRCm39) |
V656A |
probably benign |
Het |
| Tlr12 |
A |
G |
4: 128,509,730 (GRCm39) |
L840P |
probably damaging |
Het |
| Trpm3 |
T |
A |
19: 22,834,082 (GRCm39) |
I438N |
probably damaging |
Het |
| Wdr11 |
C |
A |
7: 129,227,026 (GRCm39) |
F829L |
probably benign |
Het |
| Zdhhc11 |
A |
T |
13: 74,127,264 (GRCm39) |
I214F |
possibly 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 |
|
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 |
|
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