Incidental Mutation 'R3714:Nlrp4b'
| ID |
259790 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp4b
|
| Ensembl Gene |
ENSMUSG00000034087 |
| Gene Name |
NLR family, pyrin domain containing 4B |
| Synonyms |
Nalp4b, Nalp-gamma |
| MMRRC Submission |
040707-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R3714 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
10421720-10464095 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10448808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 337
(V337A)
|
| 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: V337A
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000043881
Gene: ENSMUSG00000034087
AA Change: V337A
| 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: V337A
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000113095
Gene: ENSMUSG00000034087
AA Change: V337A
| 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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Abcd4 |
C |
T |
12: 84,658,533 (GRCm39) |
M223I |
probably benign |
Het |
| Adck5 |
G |
A |
15: 76,478,138 (GRCm39) |
V229I |
probably damaging |
Het |
| Afg2a |
G |
A |
3: 37,487,358 (GRCm39) |
V407I |
probably benign |
Het |
| Ankk1 |
T |
G |
9: 49,333,013 (GRCm39) |
D157A |
possibly damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,106,551 (GRCm39) |
I817T |
probably damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,890,287 (GRCm39) |
S260G |
probably benign |
Het |
| Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
| Cibar2 |
C |
T |
8: 120,901,576 (GRCm39) |
R43H |
probably damaging |
Het |
| Cntnap5c |
C |
T |
17: 58,199,062 (GRCm39) |
Q119* |
probably null |
Het |
| Cpb2 |
T |
A |
14: 75,520,657 (GRCm39) |
|
probably null |
Het |
| Ddx47 |
T |
A |
6: 134,996,025 (GRCm39) |
I329K |
probably damaging |
Het |
| Elavl3 |
G |
T |
9: 21,929,895 (GRCm39) |
D336E |
probably benign |
Het |
| Fcsk |
G |
T |
8: 111,613,891 (GRCm39) |
D723E |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,793,829 (GRCm39) |
|
probably null |
Het |
| Garem1 |
T |
A |
18: 21,281,947 (GRCm39) |
E136D |
probably damaging |
Het |
| Haus6 |
A |
G |
4: 86,521,104 (GRCm39) |
I178T |
probably benign |
Het |
| Igkv3-2 |
T |
G |
6: 70,675,480 (GRCm39) |
V10G |
possibly damaging |
Het |
| Jrkl |
A |
C |
9: 13,244,236 (GRCm39) |
I475R |
possibly damaging |
Het |
| Lcmt1 |
C |
T |
7: 123,003,683 (GRCm39) |
H146Y |
probably damaging |
Het |
| Lipk |
A |
G |
19: 34,017,829 (GRCm39) |
N289S |
probably damaging |
Het |
| Mb |
A |
G |
15: 76,901,789 (GRCm39) |
V102A |
probably benign |
Het |
| Mc4r |
T |
A |
18: 66,992,892 (GRCm39) |
N74Y |
probably damaging |
Het |
| Mink1 |
G |
T |
11: 70,499,776 (GRCm39) |
R773L |
possibly damaging |
Het |
| Mroh2b |
A |
G |
15: 4,973,131 (GRCm39) |
I1045V |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,370,057 (GRCm39) |
E939V |
possibly damaging |
Het |
| Ndufs7 |
T |
C |
10: 80,088,255 (GRCm39) |
I14T |
probably benign |
Het |
| Npm2 |
T |
C |
14: 70,890,060 (GRCm39) |
|
probably null |
Het |
| Or10ab4 |
T |
C |
7: 107,654,642 (GRCm39) |
F151S |
probably damaging |
Het |
| Or2h2c |
A |
G |
17: 37,422,227 (GRCm39) |
Y216H |
probably damaging |
Het |
| Or4a68 |
G |
A |
2: 89,269,727 (GRCm39) |
L299F |
probably damaging |
Het |
| Prdm9 |
T |
A |
17: 15,777,623 (GRCm39) |
K154* |
probably null |
Het |
| Prkch |
C |
T |
12: 73,822,290 (GRCm39) |
P630S |
probably damaging |
Het |
| Ptprn |
T |
C |
1: 75,229,411 (GRCm39) |
|
probably null |
Het |
| Rnf31 |
T |
A |
14: 55,840,851 (GRCm39) |
D884E |
probably damaging |
Het |
| Semp2l2a |
T |
G |
8: 13,886,736 (GRCm39) |
I452L |
probably benign |
Het |
| Slc22a27 |
A |
T |
19: 7,903,815 (GRCm39) |
N107K |
possibly damaging |
Het |
| Tln1 |
G |
T |
4: 43,540,597 (GRCm39) |
A1468D |
probably damaging |
Het |
| Tmem185b |
T |
A |
1: 119,454,781 (GRCm39) |
F181I |
possibly damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Trappc11 |
T |
C |
8: 47,958,351 (GRCm39) |
|
probably benign |
Het |
| Vmn1r218 |
A |
T |
13: 23,321,081 (GRCm39) |
N63Y |
probably damaging |
Het |
| Vps37c |
A |
G |
19: 10,683,632 (GRCm39) |
D18G |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCAGGAAGAAGATACTCCCTG -3'
(R):5'- GTTATCCAGCAGGTCTTCGC -3'
Sequencing Primer
(F):5'- GGAAGAAGATACTCCCTGAATCATC -3'
(R):5'- ATCCAGCAGGTCTTCGCTATTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation