Incidental Mutation 'R6329:Nlrp4b'
| ID |
509391 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp4b
|
| Ensembl Gene |
ENSMUSG00000034087 |
| Gene Name |
NLR family, pyrin domain containing 4B |
| Synonyms |
Nalp4b, Nalp-gamma |
| MMRRC Submission |
044483-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R6329 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
10421720-10464095 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10458847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 355
(N355S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115831
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047809]
[ENSMUST00000117413]
[ENSMUST00000132990]
[ENSMUST00000211069]
|
| AlphaFold |
Q8C6J9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047809
AA Change: N722S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000043881
Gene: ENSMUSG00000034087
AA Change: N722S
| 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: N722S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000113095
Gene: ENSMUSG00000034087
AA Change: N722S
| 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: N355S
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000115831
Gene: ENSMUSG00000034087
AA Change: N355S
| 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
AA Change: N108S
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000211258
AA Change: N17S
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,879,457 (GRCm39) |
H72R |
probably damaging |
Het |
| Abca13 |
A |
T |
11: 9,227,937 (GRCm39) |
N660I |
probably damaging |
Het |
| Actr8 |
C |
T |
14: 29,715,041 (GRCm39) |
R619* |
probably null |
Het |
| Adam18 |
C |
A |
8: 25,104,843 (GRCm39) |
G657V |
probably damaging |
Het |
| Adcyap1 |
A |
G |
17: 93,510,227 (GRCm39) |
E85G |
probably benign |
Het |
| Akr1c14 |
A |
G |
13: 4,137,302 (GRCm39) |
Y305C |
probably damaging |
Het |
| Ankdd1b |
T |
A |
13: 96,591,388 (GRCm39) |
H37L |
possibly damaging |
Het |
| Ap4e1 |
T |
C |
2: 126,903,636 (GRCm39) |
L846P |
probably benign |
Het |
| Aqp9 |
A |
T |
9: 71,039,966 (GRCm39) |
Y105* |
probably null |
Het |
| Arid1b |
C |
T |
17: 5,387,538 (GRCm39) |
Q1664* |
probably null |
Het |
| Aup1 |
A |
G |
6: 83,031,588 (GRCm39) |
|
probably benign |
Het |
| Bnip1 |
C |
A |
17: 27,005,684 (GRCm39) |
S64* |
probably null |
Het |
| Calcr |
T |
A |
6: 3,687,621 (GRCm39) |
Q422L |
probably damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,539,147 (GRCm39) |
D407V |
possibly damaging |
Het |
| Ccdc66 |
G |
T |
14: 27,208,441 (GRCm39) |
S760R |
probably benign |
Het |
| Cd22 |
T |
A |
7: 30,577,193 (GRCm39) |
E38V |
probably damaging |
Het |
| Cggbp1 |
T |
C |
16: 64,676,383 (GRCm39) |
Y150H |
probably damaging |
Het |
| Chd3 |
T |
C |
11: 69,252,510 (GRCm39) |
K263R |
possibly damaging |
Het |
| Col4a2 |
T |
A |
8: 11,496,238 (GRCm39) |
F1620I |
probably damaging |
Het |
| Col6a2 |
T |
C |
10: 76,435,662 (GRCm39) |
T858A |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,580,273 (GRCm39) |
D1554V |
probably damaging |
Het |
| Dnajc25 |
A |
T |
4: 59,013,678 (GRCm39) |
Q132L |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Ehbp1l1 |
A |
C |
19: 5,768,795 (GRCm39) |
I836S |
possibly damaging |
Het |
| Elf1 |
A |
G |
14: 79,810,779 (GRCm39) |
Q288R |
possibly damaging |
Het |
| Fbn1 |
C |
A |
2: 125,150,393 (GRCm39) |
V2608L |
possibly damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,268,551 (GRCm39) |
I232T |
possibly damaging |
Het |
| Fuca1 |
T |
A |
4: 135,662,137 (GRCm39) |
I355N |
probably damaging |
Het |
| Gcnt4 |
A |
G |
13: 97,083,781 (GRCm39) |
D359G |
probably damaging |
Het |
| Gm5134 |
T |
C |
10: 75,790,494 (GRCm39) |
M30T |
possibly damaging |
Het |
| Grk1 |
T |
G |
8: 13,455,704 (GRCm39) |
L196R |
probably damaging |
Het |
| Igkv14-126 |
A |
C |
6: 67,873,548 (GRCm39) |
D92A |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,520,600 (GRCm39) |
S1837P |
probably benign |
Het |
| Lhx4 |
T |
A |
1: 155,578,300 (GRCm39) |
T281S |
probably benign |
Het |
| Lrrc55 |
G |
T |
2: 85,026,653 (GRCm39) |
H124N |
probably benign |
Het |
| Marchf8 |
T |
A |
6: 116,383,277 (GRCm39) |
I566N |
possibly damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,393,288 (GRCm39) |
A3091V |
probably benign |
Het |
| Nmur2 |
A |
G |
11: 55,920,411 (GRCm39) |
V278A |
probably benign |
Het |
| Nod1 |
T |
C |
6: 54,921,689 (GRCm39) |
M210V |
probably benign |
Het |
| Nt5c1b |
T |
A |
12: 10,422,138 (GRCm39) |
C63* |
probably null |
Het |
| Or1e1f |
A |
G |
11: 73,855,568 (GRCm39) |
I45V |
possibly damaging |
Het |
| Or1j17 |
A |
T |
2: 36,578,694 (GRCm39) |
K227* |
probably null |
Het |
| Or4g7 |
C |
T |
2: 111,309,573 (GRCm39) |
A148V |
possibly damaging |
Het |
| Or5d37 |
G |
A |
2: 87,924,008 (GRCm39) |
P91S |
probably damaging |
Het |
| Or7g21 |
A |
C |
9: 19,032,253 (GRCm39) |
M1L |
probably benign |
Het |
| Or8b37 |
T |
C |
9: 37,959,121 (GRCm39) |
V201A |
probably benign |
Het |
| Or8g24 |
C |
T |
9: 38,989,199 (GRCm39) |
V281I |
probably benign |
Het |
| Osbp2 |
T |
A |
11: 3,665,153 (GRCm39) |
S517C |
probably damaging |
Het |
| Pcdha1 |
C |
T |
18: 37,065,301 (GRCm39) |
P655L |
probably damaging |
Het |
| Pdcd6 |
A |
G |
13: 74,452,098 (GRCm39) |
Y181H |
probably damaging |
Het |
| Perp |
G |
A |
10: 18,731,502 (GRCm39) |
G154S |
probably damaging |
Het |
| Perp |
G |
T |
10: 18,731,503 (GRCm39) |
G154V |
probably damaging |
Het |
| Pira13 |
T |
C |
7: 3,825,850 (GRCm39) |
T340A |
probably damaging |
Het |
| Prokr1 |
T |
G |
6: 87,558,774 (GRCm39) |
T204P |
possibly damaging |
Het |
| Prpf3 |
A |
T |
3: 95,739,890 (GRCm39) |
C630S |
probably damaging |
Het |
| Pter |
C |
A |
2: 12,985,359 (GRCm39) |
H230N |
probably damaging |
Het |
| Ptprs |
A |
T |
17: 56,724,427 (GRCm39) |
Y1167* |
probably null |
Het |
| Rad54l2 |
T |
C |
9: 106,595,121 (GRCm39) |
I279V |
possibly damaging |
Het |
| Rora |
T |
A |
9: 69,280,468 (GRCm39) |
L347Q |
probably damaging |
Het |
| Runx1t1 |
T |
G |
4: 13,785,136 (GRCm39) |
M1R |
probably null |
Het |
| Sdcbp |
A |
G |
4: 6,381,064 (GRCm39) |
S70G |
probably benign |
Het |
| Serpinb12 |
A |
G |
1: 106,881,493 (GRCm39) |
Y210C |
probably damaging |
Het |
| Sipa1 |
T |
C |
19: 5,701,517 (GRCm39) |
E1015G |
probably damaging |
Het |
| Slc15a2 |
A |
C |
16: 36,572,144 (GRCm39) |
L740R |
possibly damaging |
Het |
| Specc1 |
A |
G |
11: 62,047,379 (GRCm39) |
E916G |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,041,743 (GRCm39) |
I1371T |
possibly damaging |
Het |
| Tagln3 |
T |
C |
16: 45,533,365 (GRCm39) |
M130V |
probably benign |
Het |
| Tchh |
A |
T |
3: 93,353,752 (GRCm39) |
E1064V |
unknown |
Het |
| Tdp1 |
A |
T |
12: 99,880,330 (GRCm39) |
S464C |
probably damaging |
Het |
| Tdp1 |
G |
C |
12: 99,880,331 (GRCm39) |
S464T |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,729,884 (GRCm39) |
Y1374C |
probably damaging |
Het |
| Tmprss3 |
A |
T |
17: 31,402,833 (GRCm39) |
Y455* |
probably null |
Het |
| Ttc5 |
A |
G |
14: 51,003,385 (GRCm39) |
V433A |
possibly damaging |
Het |
| Wnt5a |
A |
T |
14: 28,240,449 (GRCm39) |
R180* |
probably null |
Het |
| Zfp53 |
A |
G |
17: 21,728,372 (GRCm39) |
D135G |
probably benign |
Het |
| Zfp619 |
T |
A |
7: 39,186,969 (GRCm39) |
C1000S |
probably damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
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 |
|
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 |
|
|
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'- AGGTTAGCTTCAGGTAATGTCTTC -3'
(R):5'- GCCTCTAAGGTCAAACTCAAGG -3'
Sequencing Primer
(F):5'- GCTTCAGGTAATGTCTTCCAAAC -3'
(R):5'- AGGAAACCTACCTTAGTGAATGC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation