Incidental Mutation 'R8998:Nlrp4b'
| ID |
690283 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp4b
|
| Ensembl Gene |
ENSMUSG00000034087 |
| Gene Name |
NLR family, pyrin domain containing 4B |
| Synonyms |
Nalp4b, Nalp-gamma |
| MMRRC Submission |
068829-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R8998 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
10421720-10464095 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10449629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 611
(R611G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047809]
[ENSMUST00000117413]
[ENSMUST00000132990]
[ENSMUST00000211069]
|
| AlphaFold |
Q8C6J9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047809
AA Change: R611G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000043881
Gene: ENSMUSG00000034087
AA Change: R611G
| 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: R611G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000113095
Gene: ENSMUSG00000034087
AA Change: R611G
| 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: R244G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000115831
Gene: ENSMUSG00000034087
AA Change: R244G
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aloxe3 |
A |
G |
11: 69,033,051 (GRCm39) |
K575R |
probably benign |
Het |
| Atp10b |
T |
A |
11: 43,150,726 (GRCm39) |
*1475R |
probably null |
Het |
| Baz2b |
T |
C |
2: 59,799,608 (GRCm39) |
D237G |
probably benign |
Het |
| Cacna2d4 |
A |
C |
6: 119,219,876 (GRCm39) |
Q215H |
possibly damaging |
Het |
| Capn15 |
G |
A |
17: 26,182,055 (GRCm39) |
R651C |
probably damaging |
Het |
| Cby2 |
T |
C |
14: 75,820,654 (GRCm39) |
E357G |
probably damaging |
Het |
| Ccdc28b |
A |
G |
4: 129,516,471 (GRCm39) |
V29A |
probably benign |
Het |
| Cyb5rl |
A |
G |
4: 106,938,157 (GRCm39) |
T170A |
possibly damaging |
Het |
| D330020A13Rik |
A |
G |
6: 120,271,890 (GRCm39) |
T189A |
unknown |
Het |
| Emsy |
C |
A |
7: 98,268,512 (GRCm39) |
V524F |
possibly damaging |
Het |
| Eppk1 |
T |
A |
15: 75,980,765 (GRCm39) |
N3315I |
probably damaging |
Het |
| Erich2 |
T |
G |
2: 70,361,964 (GRCm39) |
|
probably benign |
Het |
| Fkbp15 |
T |
C |
4: 62,242,365 (GRCm39) |
D529G |
probably damaging |
Het |
| Gbx2 |
C |
A |
1: 89,856,745 (GRCm39) |
G215V |
possibly damaging |
Het |
| Gzmd |
T |
A |
14: 56,368,144 (GRCm39) |
Y105F |
possibly damaging |
Het |
| Hpse |
G |
A |
5: 100,840,109 (GRCm39) |
T336M |
probably damaging |
Het |
| Hrg |
A |
G |
16: 22,772,455 (GRCm39) |
D88G |
probably damaging |
Het |
| Kif20b |
G |
A |
19: 34,914,253 (GRCm39) |
|
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,733,174 (GRCm39) |
M2381T |
unknown |
Het |
| Krtap5-3 |
T |
A |
7: 141,755,933 (GRCm39) |
C257S |
unknown |
Het |
| Met |
C |
T |
6: 17,491,534 (GRCm39) |
R99W |
probably benign |
Het |
| Or10a3b |
A |
C |
7: 108,445,017 (GRCm39) |
S67A |
probably benign |
Het |
| Or4b1d |
C |
T |
2: 89,969,472 (GRCm39) |
V4I |
probably benign |
Het |
| Or8b1c |
T |
C |
9: 38,384,787 (GRCm39) |
V248A |
probably benign |
Het |
| Or9m1 |
T |
A |
2: 87,733,189 (GRCm39) |
Y277F |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,727,510 (GRCm39) |
I2123V |
unknown |
Het |
| Phf10 |
G |
C |
17: 15,170,883 (GRCm39) |
A350G |
probably benign |
Het |
| Pira2 |
T |
C |
7: 3,845,490 (GRCm39) |
Y298C |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,434,425 (GRCm39) |
Y2338N |
probably damaging |
Het |
| Psme4 |
C |
T |
11: 30,788,957 (GRCm39) |
L1120F |
possibly damaging |
Het |
| Safb2 |
A |
T |
17: 56,870,391 (GRCm39) |
H934Q |
possibly damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,775,346 (GRCm38) |
L884Q |
probably damaging |
Het |
| Smc4 |
A |
C |
3: 68,934,894 (GRCm39) |
|
probably benign |
Het |
| Spag16 |
T |
C |
1: 69,935,706 (GRCm39) |
V311A |
probably benign |
Het |
| Sprr2j-ps |
T |
C |
3: 92,326,176 (GRCm39) |
V17A |
unknown |
Het |
| Tenm3 |
T |
C |
8: 48,729,722 (GRCm39) |
Y1428C |
probably damaging |
Het |
| Tent4b |
A |
G |
8: 88,977,350 (GRCm39) |
H384R |
probably benign |
Het |
| Treml2 |
A |
G |
17: 48,609,775 (GRCm39) |
D69G |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,658,277 (GRCm39) |
K12368E |
unknown |
Het |
| Usp17le |
T |
C |
7: 104,417,969 (GRCm39) |
D391G |
probably benign |
Het |
| Usp28 |
G |
A |
9: 48,949,139 (GRCm39) |
R911Q |
probably benign |
Het |
| Wdfy3 |
A |
C |
5: 101,993,058 (GRCm39) |
S3274R |
probably benign |
Het |
| Ythdc2 |
T |
C |
18: 44,997,371 (GRCm39) |
V976A |
probably benign |
Het |
| Zfp334 |
A |
G |
2: 165,223,408 (GRCm39) |
S212P |
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 |
|
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 |
|
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'- TCTGTTTGAGATGGAAGAGGAAGTC -3'
(R):5'- ATTGTCAAAGCAGGTGAGTTTG -3'
Sequencing Primer
(F):5'- AGGAAGTCTTTGTACAGTCAGC -3'
(R):5'- TATGCCTACATGTATGTACACACAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation