Incidental Mutation 'R7537:Nlrp4b'
| ID |
583649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp4b
|
| Ensembl Gene |
ENSMUSG00000034087 |
| Gene Name |
NLR family, pyrin domain containing 4B |
| Synonyms |
Nalp4b, Nalp-gamma |
| MMRRC Submission |
045609-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R7537 (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 10448816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 340
(M340V)
|
| 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: M340V
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000043881
Gene: ENSMUSG00000034087
AA Change: M340V
| 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: M340V
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000113095
Gene: ENSMUSG00000034087
AA Change: M340V
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,967,637 (GRCm39) |
L2229P |
possibly damaging |
Het |
| Acaca |
T |
A |
11: 84,151,460 (GRCm39) |
M786K |
probably damaging |
Het |
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Adap1 |
T |
G |
5: 139,278,928 (GRCm39) |
E117D |
possibly damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,463,053 (GRCm39) |
S746P |
probably benign |
Het |
| Appl2 |
A |
G |
10: 83,453,292 (GRCm39) |
I208T |
possibly damaging |
Het |
| Astn1 |
A |
G |
1: 158,332,956 (GRCm39) |
E346G |
possibly damaging |
Het |
| Astn1 |
G |
A |
1: 158,495,208 (GRCm39) |
|
probably null |
Het |
| Atp23 |
T |
A |
10: 126,704,594 (GRCm39) |
I180L |
unknown |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Cdh23 |
A |
T |
10: 60,220,724 (GRCm39) |
I1340N |
probably benign |
Het |
| Cdh8 |
G |
A |
8: 99,825,517 (GRCm39) |
Q493* |
probably null |
Het |
| Ces1g |
T |
C |
8: 94,046,455 (GRCm39) |
I357V |
probably benign |
Het |
| Ddx46 |
A |
G |
13: 55,798,291 (GRCm39) |
D226G |
probably damaging |
Het |
| Eea1 |
C |
T |
10: 95,830,767 (GRCm39) |
Q143* |
probably null |
Het |
| Erlin2 |
G |
T |
8: 27,521,800 (GRCm39) |
|
probably null |
Het |
| Fat3 |
T |
A |
9: 15,849,615 (GRCm39) |
D3929V |
probably damaging |
Het |
| Flt3 |
T |
C |
5: 147,271,247 (GRCm39) |
D898G |
probably damaging |
Het |
| Gm16519 |
A |
G |
17: 71,236,351 (GRCm39) |
N100S |
probably benign |
Het |
| Gnl1 |
A |
G |
17: 36,299,428 (GRCm39) |
H533R |
probably damaging |
Het |
| Gphn |
A |
G |
12: 78,551,454 (GRCm39) |
T301A |
possibly damaging |
Het |
| Herc2 |
C |
T |
7: 55,869,527 (GRCm39) |
R4295* |
probably null |
Het |
| Insm2 |
T |
C |
12: 55,646,303 (GRCm39) |
S16P |
possibly damaging |
Het |
| Jak2 |
C |
T |
19: 29,276,037 (GRCm39) |
T778I |
probably benign |
Het |
| Lrriq3 |
A |
G |
3: 154,806,734 (GRCm39) |
T128A |
probably damaging |
Het |
| Lst1 |
A |
G |
17: 35,405,920 (GRCm39) |
|
probably null |
Het |
| Magi1 |
G |
T |
6: 93,685,091 (GRCm39) |
Y762* |
probably null |
Het |
| Man2b1 |
T |
A |
8: 85,817,594 (GRCm39) |
C358* |
probably null |
Het |
| Mga |
T |
C |
2: 119,766,032 (GRCm39) |
V1432A |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Morc2a |
C |
T |
11: 3,633,566 (GRCm39) |
Q587* |
probably null |
Het |
| Mrc2 |
T |
C |
11: 105,183,623 (GRCm39) |
I4T |
probably benign |
Het |
| Muc16 |
C |
A |
9: 18,549,431 (GRCm39) |
V5621F |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,047,513 (GRCm39) |
R340G |
probably benign |
Het |
| Nipal3 |
T |
C |
4: 135,218,248 (GRCm39) |
Y34C |
probably damaging |
Het |
| Nktr |
T |
A |
9: 121,578,345 (GRCm39) |
D804E |
unknown |
Het |
| Or1e26 |
T |
A |
11: 73,480,094 (GRCm39) |
T157S |
probably benign |
Het |
| Or2ag2b |
G |
A |
7: 106,417,581 (GRCm39) |
C97Y |
probably damaging |
Het |
| Or56a41 |
A |
T |
7: 104,741,978 (GRCm39) |
M16K |
probably benign |
Het |
| Or5al5 |
A |
G |
2: 85,961,608 (GRCm39) |
V133A |
probably benign |
Het |
| Pard3 |
T |
A |
8: 128,337,063 (GRCm39) |
N1271K |
probably damaging |
Het |
| Pcdhb11 |
A |
T |
18: 37,554,672 (GRCm39) |
M1L |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,732,118 (GRCm39) |
V3540A |
unknown |
Het |
| Pemt |
A |
G |
11: 59,867,670 (GRCm39) |
F154S |
probably damaging |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Rnpc3 |
G |
T |
3: 113,407,481 (GRCm39) |
T376K |
probably benign |
Het |
| Rpe65 |
A |
G |
3: 159,310,246 (GRCm39) |
Y143C |
probably damaging |
Het |
| Sbk2 |
T |
C |
7: 4,966,148 (GRCm39) |
E12G |
probably benign |
Het |
| Slc2a5 |
T |
C |
4: 150,213,526 (GRCm39) |
I106T |
possibly damaging |
Het |
| Snx13 |
A |
G |
12: 35,135,981 (GRCm39) |
D92G |
probably damaging |
Het |
| Sorl1 |
C |
T |
9: 41,891,984 (GRCm39) |
V1889I |
probably benign |
Het |
| Spag17 |
A |
T |
3: 99,846,563 (GRCm39) |
N29I |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,378,108 (GRCm39) |
V878A |
probably damaging |
Het |
| Timp4 |
A |
G |
6: 115,227,421 (GRCm39) |
S53P |
probably damaging |
Het |
| Tssk1 |
G |
T |
16: 17,712,948 (GRCm39) |
E244D |
probably benign |
Het |
| Usp29 |
A |
C |
7: 6,964,219 (GRCm39) |
T21P |
possibly damaging |
Het |
| Vmn2r85 |
A |
T |
10: 130,258,735 (GRCm39) |
V440E |
probably benign |
Het |
| Wdr59 |
T |
C |
8: 112,217,001 (GRCm39) |
D270G |
|
Het |
| Zbbx |
G |
A |
3: 74,992,826 (GRCm39) |
P223S |
probably damaging |
Het |
| Zfp936 |
T |
A |
7: 42,839,239 (GRCm39) |
C235* |
probably null |
Het |
| Zranb3 |
A |
T |
1: 127,960,584 (GRCm39) |
|
probably null |
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 |
|
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'- TTGAAGGACTGGATTGAGTACAC -3'
(R):5'- GTGTGGGGATGTCAGAATCC -3'
Sequencing Primer
(F):5'- CAAATGTGAGAACAATAACCGGATTC -3'
(R):5'- GGGATGTCAGAATCCATGATCCC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation