Incidental Mutation 'R9373:Nlrp4b'
| ID |
709438 |
| 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 # |
R9373 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
10421720-10464095 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 10449126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 443
(I443K)
|
| 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: I443K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000043881
Gene: ENSMUSG00000034087
AA Change: I443K
| 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: I443K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000113095
Gene: ENSMUSG00000034087
AA Change: I443K
| 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: I76K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000115831
Gene: ENSMUSG00000034087
AA Change: I76K
| 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
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
96% (53/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
| 2310003L06Rik |
A |
C |
5: 88,120,668 (GRCm39) |
D475A |
probably benign |
Het |
| Aatk |
T |
C |
11: 119,906,343 (GRCm39) |
M243V |
possibly damaging |
Het |
| Acox1 |
A |
T |
11: 116,065,173 (GRCm39) |
N627K |
possibly damaging |
Het |
| Adal |
A |
G |
2: 120,980,703 (GRCm39) |
Y142C |
probably benign |
Het |
| Agfg2 |
A |
G |
5: 137,662,476 (GRCm39) |
|
probably null |
Het |
| Ajap1 |
C |
T |
4: 153,516,670 (GRCm39) |
A224T |
probably benign |
Het |
| Alg1 |
T |
C |
16: 5,056,990 (GRCm39) |
F234L |
probably benign |
Het |
| Arhgap27 |
G |
T |
11: 103,251,287 (GRCm39) |
A147E |
possibly damaging |
Het |
| C9orf72 |
A |
G |
4: 35,196,985 (GRCm39) |
F360S |
|
Het |
| Cachd1 |
T |
C |
4: 100,832,067 (GRCm39) |
V743A |
possibly damaging |
Het |
| Cc2d2b |
G |
A |
19: 40,784,167 (GRCm39) |
V655I |
unknown |
Het |
| Cd72 |
T |
C |
4: 43,450,141 (GRCm39) |
S256G |
possibly damaging |
Het |
| Celf2 |
G |
T |
2: 6,551,915 (GRCm39) |
N521K |
probably benign |
Het |
| Clca4a |
T |
A |
3: 144,672,133 (GRCm39) |
N270Y |
possibly damaging |
Het |
| Clvs2 |
A |
T |
10: 33,404,382 (GRCm39) |
V278E |
probably benign |
Het |
| Cwf19l2 |
T |
C |
9: 3,454,718 (GRCm39) |
F677S |
probably damaging |
Het |
| Dnaaf4 |
A |
G |
9: 72,871,462 (GRCm39) |
T241A |
probably damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Epdr1 |
T |
C |
13: 19,778,707 (GRCm39) |
N130D |
possibly damaging |
Het |
| Fam184a |
G |
A |
10: 53,566,115 (GRCm39) |
R491W |
probably benign |
Het |
| Foxp2 |
A |
G |
6: 15,377,969 (GRCm39) |
Q160R |
unknown |
Het |
| Fstl5 |
T |
A |
3: 76,555,669 (GRCm39) |
Y515* |
probably null |
Het |
| Garin5b |
T |
C |
7: 4,760,712 (GRCm39) |
M667V |
|
Het |
| Helz2 |
G |
T |
2: 180,882,741 (GRCm39) |
N17K |
probably benign |
Het |
| Irag1 |
A |
G |
7: 110,545,038 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
C |
T |
10: 66,932,495 (GRCm39) |
|
probably benign |
Het |
| Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
| Lrrn1 |
A |
C |
6: 107,545,465 (GRCm39) |
Q421P |
possibly damaging |
Het |
| Mapk1 |
A |
G |
16: 16,836,154 (GRCm39) |
I101V |
probably benign |
Het |
| Me2 |
T |
C |
18: 73,918,800 (GRCm39) |
E427G |
probably damaging |
Het |
| Mrc1 |
G |
A |
2: 14,274,999 (GRCm39) |
M433I |
probably damaging |
Het |
| Nelfb |
G |
A |
2: 25,095,218 (GRCm39) |
R324W |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Or5b118 |
A |
G |
19: 13,449,216 (GRCm39) |
E294G |
probably damaging |
Het |
| Or8b50 |
G |
A |
9: 38,518,142 (GRCm39) |
C127Y |
possibly damaging |
Het |
| Or8b9 |
T |
A |
9: 37,766,750 (GRCm39) |
V212D |
probably damaging |
Het |
| Or9g3 |
A |
T |
2: 85,590,275 (GRCm39) |
Y148* |
probably null |
Het |
| Parvb |
C |
T |
15: 84,188,100 (GRCm39) |
T281I |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,099,502 (GRCm39) |
T1669A |
probably benign |
Het |
| Runx3 |
A |
G |
4: 134,848,456 (GRCm39) |
T14A |
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,314,261 (GRCm39) |
V1819A |
probably benign |
Het |
| Senp1 |
T |
C |
15: 97,964,435 (GRCm39) |
T260A |
probably benign |
Het |
| Serpinb10 |
A |
G |
1: 107,474,749 (GRCm39) |
R304G |
possibly damaging |
Het |
| Spem1 |
C |
T |
11: 69,712,640 (GRCm39) |
C65Y |
probably benign |
Het |
| Tdrd6 |
A |
G |
17: 43,939,053 (GRCm39) |
V665A |
possibly damaging |
Het |
| Tenm2 |
C |
T |
11: 35,930,713 (GRCm39) |
A1772T |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,752,690 (GRCm39) |
V891I |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,259 (GRCm39) |
D761G |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,944,681 (GRCm39) |
S1053G |
probably damaging |
Het |
| Ubap2l |
A |
T |
3: 89,915,587 (GRCm39) |
Y985N |
unknown |
Het |
| Vwc2l |
A |
T |
1: 70,768,218 (GRCm39) |
H94L |
probably damaging |
Het |
| Wdr27 |
G |
A |
17: 15,154,795 (GRCm39) |
H41Y |
probably benign |
Het |
| Zfp7 |
AGTGCGGGAAAGGTTTCCACCTG |
AG |
15: 76,774,798 (GRCm39) |
|
probably benign |
Het |
| Zfp7 |
TGCGGGAAAGGTTTCCACCTGAGCG |
TGCG |
15: 76,774,800 (GRCm39) |
|
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 |
|
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'- AGACCTGCTGGATAACTTGTG -3'
(R):5'- TGTCCAATAGGAGTTCCAGCC -3'
Sequencing Primer
(F):5'- AGACCTGCTGGATAACTTGTGTTTTC -3'
(R):5'- AAAAATGCCTCCAGCTTTTCTTG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation