Incidental Mutation 'R5381:Nlrp4b'
ID |
424712 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrp4b
|
Ensembl Gene |
ENSMUSG00000034087 |
Gene Name |
NLR family, pyrin domain containing 4B |
Synonyms |
Nalp4b, Nalp-gamma |
MMRRC Submission |
042956-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R5381 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
10421720-10464095 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 10449172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 91
(Y91*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115831
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047809]
[ENSMUST00000117413]
[ENSMUST00000132990]
[ENSMUST00000211069]
|
AlphaFold |
Q8C6J9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000047809
AA Change: Y458*
|
SMART Domains |
Protein: ENSMUSP00000043881 Gene: ENSMUSG00000034087 AA Change: Y458*
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 null
Transcript: ENSMUST00000117413
AA Change: Y458*
|
SMART Domains |
Protein: ENSMUSP00000113095 Gene: ENSMUSG00000034087 AA Change: Y458*
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 null
Transcript: ENSMUST00000132990
AA Change: Y91*
|
SMART Domains |
Protein: ENSMUSP00000115831 Gene: ENSMUSG00000034087 AA Change: Y91*
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
|
Meta Mutation Damage Score |
0.9698 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
100% (74/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700086D15Rik |
G |
T |
11: 65,044,137 (GRCm39) |
S19* |
probably null |
Het |
4930432E11Rik |
A |
T |
7: 29,262,393 (GRCm39) |
|
noncoding transcript |
Het |
Acvr1c |
T |
C |
2: 58,177,747 (GRCm39) |
T241A |
probably damaging |
Het |
Ankmy1 |
T |
C |
1: 92,804,284 (GRCm39) |
T900A |
probably benign |
Het |
Anp32a |
A |
C |
9: 62,279,459 (GRCm39) |
E107A |
probably damaging |
Het |
Arhgef40 |
T |
C |
14: 52,229,306 (GRCm39) |
I623T |
probably damaging |
Het |
Camsap3 |
T |
A |
8: 3,653,812 (GRCm39) |
I483N |
probably damaging |
Het |
Card9 |
G |
A |
2: 26,248,895 (GRCm39) |
L85F |
probably damaging |
Het |
Cbfa2t2 |
T |
G |
2: 154,365,849 (GRCm39) |
V353G |
probably damaging |
Het |
Ccdc166 |
A |
T |
15: 75,852,701 (GRCm39) |
L422* |
probably null |
Het |
Ccdc198 |
T |
C |
14: 49,470,364 (GRCm39) |
D185G |
probably damaging |
Het |
Ccdc73 |
A |
T |
2: 104,820,270 (GRCm39) |
N416Y |
probably damaging |
Het |
Celsr2 |
A |
T |
3: 108,310,073 (GRCm39) |
D1552E |
probably damaging |
Het |
Ces1b |
A |
T |
8: 93,791,647 (GRCm39) |
N317K |
probably benign |
Het |
Col6a3 |
T |
C |
1: 90,703,334 (GRCm39) |
R2471G |
unknown |
Het |
Crocc |
C |
T |
4: 140,756,622 (GRCm39) |
R1165H |
possibly damaging |
Het |
Csmd3 |
T |
A |
15: 47,604,611 (GRCm39) |
Y1955F |
probably benign |
Het |
Ctbp1 |
A |
T |
5: 33,407,034 (GRCm39) |
D232E |
probably benign |
Het |
Cuedc1 |
T |
A |
11: 88,078,812 (GRCm39) |
|
probably null |
Het |
Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
Dusp6 |
G |
A |
10: 99,102,129 (GRCm39) |
V226I |
possibly damaging |
Het |
Gpr152 |
A |
G |
19: 4,192,516 (GRCm39) |
E19G |
probably damaging |
Het |
Ighv16-1 |
T |
C |
12: 114,032,593 (GRCm39) |
T70A |
probably benign |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Il12b |
C |
A |
11: 44,298,699 (GRCm39) |
D51E |
possibly damaging |
Het |
Il9r |
T |
G |
11: 32,140,715 (GRCm39) |
D435A |
probably benign |
Het |
Jakmip2 |
T |
C |
18: 43,715,025 (GRCm39) |
D167G |
probably damaging |
Het |
Klrd1 |
A |
G |
6: 129,572,397 (GRCm39) |
D63G |
possibly damaging |
Het |
Lactb |
A |
G |
9: 66,863,297 (GRCm39) |
L439P |
probably damaging |
Het |
Laptm5 |
T |
C |
4: 130,660,969 (GRCm39) |
|
probably benign |
Het |
Lgals1 |
A |
G |
15: 78,814,223 (GRCm39) |
D96G |
probably benign |
Het |
Lrp8 |
A |
T |
4: 107,726,307 (GRCm39) |
H871L |
probably damaging |
Het |
Mfap4 |
A |
T |
11: 61,378,756 (GRCm39) |
I235F |
probably benign |
Het |
Muc6 |
G |
A |
7: 141,217,836 (GRCm39) |
T2279I |
possibly damaging |
Het |
Osbp2 |
A |
G |
11: 3,655,593 (GRCm39) |
Y383H |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Palb2 |
G |
T |
7: 121,727,636 (GRCm39) |
T78K |
probably benign |
Het |
Panx2 |
G |
T |
15: 88,944,433 (GRCm39) |
V53L |
probably damaging |
Het |
Pip4p1 |
T |
C |
14: 51,166,495 (GRCm39) |
E161G |
probably benign |
Het |
Pitx1 |
T |
C |
13: 55,973,892 (GRCm39) |
Y313C |
probably damaging |
Het |
Pjvk |
A |
G |
2: 76,481,904 (GRCm39) |
|
probably null |
Het |
Pnldc1 |
T |
G |
17: 13,109,283 (GRCm39) |
K439T |
probably benign |
Het |
Ppp4r4 |
A |
C |
12: 103,559,357 (GRCm39) |
T513P |
probably benign |
Het |
Pram1 |
A |
T |
17: 33,860,600 (GRCm39) |
Q389L |
probably damaging |
Het |
Prg4 |
T |
C |
1: 150,330,204 (GRCm39) |
|
probably benign |
Het |
Prkch |
C |
A |
12: 73,738,366 (GRCm39) |
R158S |
probably damaging |
Het |
Ptpn7 |
A |
T |
1: 135,070,906 (GRCm39) |
M332L |
probably damaging |
Het |
Rad51c |
A |
T |
11: 87,288,459 (GRCm39) |
D241E |
probably benign |
Het |
Rara |
T |
G |
11: 98,862,410 (GRCm39) |
I270M |
possibly damaging |
Het |
Ryr2 |
T |
A |
13: 11,571,544 (GRCm39) |
D4898V |
probably damaging |
Het |
Sec31b |
C |
T |
19: 44,522,810 (GRCm39) |
G218S |
probably damaging |
Het |
Slc9a1 |
T |
A |
4: 133,149,382 (GRCm39) |
L736Q |
probably damaging |
Het |
Slco2a1 |
A |
T |
9: 102,945,213 (GRCm39) |
D196V |
probably damaging |
Het |
Sp3 |
C |
A |
2: 72,800,910 (GRCm39) |
A368S |
probably benign |
Het |
Stk24 |
A |
T |
14: 121,531,645 (GRCm39) |
L337Q |
possibly damaging |
Het |
Tbc1d13 |
A |
G |
2: 30,027,379 (GRCm39) |
T96A |
probably benign |
Het |
Tm2d3 |
G |
A |
7: 65,351,420 (GRCm39) |
G225S |
probably damaging |
Het |
Urb2 |
T |
C |
8: 124,756,651 (GRCm39) |
V786A |
probably benign |
Het |
Usp32 |
C |
T |
11: 84,949,953 (GRCm39) |
|
probably benign |
Het |
Usp54 |
C |
T |
14: 20,636,144 (GRCm39) |
G300D |
probably damaging |
Het |
Vmn1r124 |
T |
A |
7: 20,994,323 (GRCm39) |
N74Y |
probably damaging |
Het |
Vmn1r77 |
T |
A |
7: 11,775,952 (GRCm39) |
C175S |
probably damaging |
Het |
Vmn2r62 |
G |
T |
7: 42,437,219 (GRCm39) |
Q422K |
probably benign |
Het |
Vmn2r76 |
A |
G |
7: 85,874,496 (GRCm39) |
F827S |
probably damaging |
Het |
Vps52 |
A |
G |
17: 34,177,275 (GRCm39) |
S106G |
possibly damaging |
Het |
Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
Zic2 |
A |
G |
14: 122,713,227 (GRCm39) |
N47S |
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 |
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'- AGGGCATGTGGACTGATATATC -3'
(R):5'- TCCAATAGGAGTTCCAGCCAC -3'
Sequencing Primer
(F):5'- CTGTGTTTAATGAGGAGGCTCTAAG -3'
(R):5'- GTCGCCTTAATTCTTTAGATAAGTGG -3'
|
Posted On |
2016-08-04 |