Incidental Mutation 'R9679:Nlrp4b'
| ID |
728408 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp4b
|
| Ensembl Gene |
ENSMUSG00000034087 |
| Gene Name |
NLR family, pyrin domain containing 4B |
| Synonyms |
Nalp4b, Nalp-gamma |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R9679 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
10421720-10464095 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 10449184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 462
(S462R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047809]
[ENSMUST00000117413]
[ENSMUST00000132990]
[ENSMUST00000211069]
|
| AlphaFold |
Q8C6J9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047809
AA Change: S462R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000043881
Gene: ENSMUSG00000034087
AA Change: S462R
| 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: S462R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000113095
Gene: ENSMUSG00000034087
AA Change: S462R
| 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
AA Change: S95R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000115831
Gene: ENSMUSG00000034087
AA Change: S95R
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
T |
A |
12: 113,509,542 (GRCm39) |
N638K |
probably benign |
Het |
| Arid5a |
A |
G |
1: 36,357,648 (GRCm39) |
K188E |
possibly damaging |
Het |
| Atp11a |
T |
C |
8: 12,909,388 (GRCm39) |
I1082T |
possibly damaging |
Het |
| Bdp1 |
T |
A |
13: 100,180,285 (GRCm39) |
I1845F |
probably damaging |
Het |
| Ccdc87 |
A |
C |
19: 4,891,299 (GRCm39) |
E597A |
probably benign |
Het |
| Cfap53 |
A |
T |
18: 74,492,656 (GRCm39) |
Q460L |
possibly damaging |
Het |
| Clcn1 |
G |
A |
6: 42,263,753 (GRCm39) |
S18N |
probably damaging |
Het |
| Cntnap3 |
C |
A |
13: 64,899,562 (GRCm39) |
C977F |
probably damaging |
Het |
| Colec11 |
C |
A |
12: 28,644,829 (GRCm39) |
V222L |
probably benign |
Het |
| Dchs2 |
G |
T |
3: 83,261,697 (GRCm39) |
S2655I |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 31,037,115 (GRCm39) |
T4227A |
probably benign |
Het |
| Dock5 |
G |
A |
14: 68,018,450 (GRCm39) |
R1242W |
probably damaging |
Het |
| Ebf3 |
T |
A |
7: 136,832,964 (GRCm39) |
N237I |
possibly damaging |
Het |
| F2rl3 |
T |
A |
8: 73,489,661 (GRCm39) |
L296Q |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,201,433 (GRCm39) |
I1328T |
probably damaging |
Het |
| Fes |
T |
C |
7: 80,033,050 (GRCm39) |
E258G |
probably benign |
Het |
| Gins4 |
G |
A |
8: 23,717,132 (GRCm39) |
A212V |
probably damaging |
Het |
| Il15 |
T |
C |
8: 83,071,094 (GRCm39) |
Y7C |
probably benign |
Het |
| Il9r |
T |
G |
11: 32,140,853 (GRCm39) |
H395P |
probably benign |
Het |
| Jade1 |
T |
C |
3: 41,567,569 (GRCm39) |
S546P |
probably damaging |
Het |
| Krt72 |
C |
T |
15: 101,685,152 (GRCm39) |
G469D |
probably damaging |
Het |
| Limd1 |
T |
A |
9: 123,308,457 (GRCm39) |
M52K |
probably damaging |
Het |
| Mamdc2 |
T |
C |
19: 23,351,380 (GRCm39) |
N182S |
probably benign |
Het |
| Mrpl14 |
A |
G |
17: 46,009,240 (GRCm39) |
N113S |
probably damaging |
Het |
| Ms4a14 |
A |
G |
19: 11,280,048 (GRCm39) |
S837P |
possibly damaging |
Het |
| Mtrex |
A |
G |
13: 113,032,055 (GRCm39) |
S586P |
probably damaging |
Het |
| Muc21 |
A |
G |
17: 35,930,491 (GRCm39) |
S1232P |
unknown |
Het |
| Myh11 |
A |
T |
16: 14,095,436 (GRCm39) |
Y109N |
|
Het |
| Nfrkb |
C |
T |
9: 31,321,385 (GRCm39) |
T694M |
probably benign |
Het |
| Or4k37 |
A |
G |
2: 111,159,345 (GRCm39) |
T194A |
probably benign |
Het |
| Or52e2 |
T |
C |
7: 102,804,652 (GRCm39) |
I101V |
probably benign |
Het |
| Or5g9 |
T |
A |
2: 85,552,482 (GRCm39) |
H244Q |
probably damaging |
Het |
| Or5h19 |
A |
G |
16: 58,856,521 (GRCm39) |
L193P |
possibly damaging |
Het |
| Or6c76 |
A |
G |
10: 129,611,882 (GRCm39) |
Y33C |
probably damaging |
Het |
| Rasip1 |
T |
C |
7: 45,277,327 (GRCm39) |
V45A |
possibly damaging |
Het |
| Rgs22 |
A |
G |
15: 36,087,587 (GRCm39) |
S568P |
probably benign |
Het |
| Sephs1 |
T |
A |
2: 4,898,105 (GRCm39) |
L172Q |
probably damaging |
Het |
| Slc16a3 |
T |
C |
11: 120,847,223 (GRCm39) |
L137P |
probably damaging |
Het |
| Slc22a4 |
T |
C |
11: 53,881,599 (GRCm39) |
Y373C |
probably damaging |
Het |
| Snx1 |
T |
C |
9: 65,998,002 (GRCm39) |
D410G |
probably benign |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Stam2 |
G |
T |
2: 52,606,582 (GRCm39) |
A101D |
probably damaging |
Het |
| Surf4 |
A |
G |
2: 26,814,364 (GRCm39) |
F179S |
probably benign |
Het |
| Taf8 |
C |
T |
17: 47,801,101 (GRCm39) |
R294Q |
unknown |
Het |
| Tnr |
A |
G |
1: 159,719,608 (GRCm39) |
T962A |
probably benign |
Het |
| Tpx2 |
T |
A |
2: 152,711,618 (GRCm39) |
I51K |
possibly damaging |
Het |
| Traf7 |
CA |
CAA |
17: 24,746,737 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,394,369 (GRCm39) |
Y2305N |
|
Het |
| Vil1 |
C |
A |
1: 74,469,833 (GRCm39) |
Q740K |
probably benign |
Het |
| Vmn1r236 |
T |
C |
17: 21,507,286 (GRCm39) |
F135L |
possibly damaging |
Het |
| Vmn1r57 |
A |
C |
7: 5,224,230 (GRCm39) |
I252L |
probably benign |
Het |
| Vmn2r77 |
T |
C |
7: 86,460,741 (GRCm39) |
L689P |
probably benign |
Het |
| Wdr1 |
A |
G |
5: 38,685,216 (GRCm39) |
L585P |
probably damaging |
Het |
| Wdr6 |
T |
C |
9: 108,450,358 (GRCm39) |
I1057V |
probably benign |
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 |
|
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 |
|
X0063:Nlrp4b
|
UTSW |
7 |
10,463,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGCATGTGGACTGATATATC -3'
(R):5'- TGTCCAATAGGAGTTCCAGCC -3'
Sequencing Primer
(F):5'- CTGTGTTTAATGAGGAGGCTCTAAG -3'
(R):5'- GTCGCCTTAATTCTTTAGATAAGTGG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation