Incidental Mutation 'R0573:Nlrp4b'
ID |
46526 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrp4b
|
Ensembl Gene |
ENSMUSG00000034087 |
Gene Name |
NLR family, pyrin domain containing 4B |
Synonyms |
Nalp4b, Nalp-gamma |
MMRRC Submission |
038763-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R0573 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
10421720-10464095 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 10448142 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 115
(N115S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113095
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047809]
[ENSMUST00000117413]
[ENSMUST00000132990]
[ENSMUST00000211069]
|
AlphaFold |
Q8C6J9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047809
AA Change: N115S
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000043881 Gene: ENSMUSG00000034087 AA Change: N115S
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: N115S
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000113095 Gene: ENSMUSG00000034087 AA Change: N115S
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 |
noncoding transcript
Transcript: ENSMUST00000211772
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.5%
|
Validation Efficiency |
97% (60/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
A |
T |
12: 113,455,278 (GRCm39) |
K698N |
possibly damaging |
Het |
Adcy8 |
A |
T |
15: 64,694,044 (GRCm39) |
V411D |
probably damaging |
Het |
Arfgef3 |
T |
A |
10: 18,475,036 (GRCm39) |
E1550V |
probably damaging |
Het |
Asb3 |
T |
A |
11: 31,011,406 (GRCm39) |
I306K |
probably damaging |
Het |
Asic4 |
T |
A |
1: 75,445,746 (GRCm39) |
|
probably benign |
Het |
Basp1 |
G |
T |
15: 25,364,948 (GRCm39) |
D16E |
unknown |
Het |
Cbll1 |
A |
T |
12: 31,540,539 (GRCm39) |
I123N |
probably damaging |
Het |
Ccdc141 |
A |
T |
2: 76,869,837 (GRCm39) |
H889Q |
probably benign |
Het |
Ccdc65 |
T |
C |
15: 98,618,930 (GRCm39) |
V303A |
probably benign |
Het |
Ceacam20 |
T |
A |
7: 19,720,593 (GRCm39) |
M60K |
probably damaging |
Het |
Chd9 |
T |
A |
8: 91,725,223 (GRCm39) |
V711D |
probably damaging |
Het |
Clcn1 |
T |
A |
6: 42,289,979 (GRCm39) |
|
probably null |
Het |
Col16a1 |
A |
T |
4: 129,962,268 (GRCm39) |
|
probably benign |
Het |
Col4a3 |
C |
A |
1: 82,694,084 (GRCm39) |
P1568Q |
possibly damaging |
Het |
Colec12 |
C |
A |
18: 9,858,650 (GRCm39) |
P478T |
probably damaging |
Het |
Dchs1 |
T |
C |
7: 105,407,985 (GRCm39) |
H1949R |
probably damaging |
Het |
Dgka |
A |
G |
10: 128,572,876 (GRCm39) |
|
probably null |
Het |
Dlgap4 |
A |
G |
2: 156,588,111 (GRCm39) |
I669V |
probably benign |
Het |
Dsg1c |
T |
A |
18: 20,412,298 (GRCm39) |
D543E |
probably benign |
Het |
Egflam |
A |
T |
15: 7,271,906 (GRCm39) |
C677* |
probably null |
Het |
Eml5 |
A |
C |
12: 98,791,031 (GRCm39) |
|
probably null |
Het |
Fbn1 |
G |
A |
2: 125,231,169 (GRCm39) |
R466C |
probably damaging |
Het |
Fnbp1 |
C |
A |
2: 30,948,990 (GRCm39) |
D198Y |
probably damaging |
Het |
Gfra3 |
T |
A |
18: 34,824,668 (GRCm39) |
M272L |
probably benign |
Het |
Gm5422 |
T |
A |
10: 31,126,156 (GRCm39) |
|
noncoding transcript |
Het |
Gpr21 |
T |
A |
2: 37,407,556 (GRCm39) |
I34N |
probably damaging |
Het |
Hspb2 |
G |
T |
9: 50,662,664 (GRCm39) |
T155K |
probably benign |
Het |
Il21r |
A |
G |
7: 125,224,457 (GRCm39) |
T24A |
probably benign |
Het |
Mmadhc |
T |
A |
2: 50,182,847 (GRCm39) |
H43L |
possibly damaging |
Het |
Morn1 |
T |
A |
4: 155,195,473 (GRCm39) |
D278E |
possibly damaging |
Het |
Myoc |
T |
C |
1: 162,476,243 (GRCm39) |
Y316H |
probably damaging |
Het |
Nags |
A |
G |
11: 102,037,805 (GRCm39) |
D266G |
probably damaging |
Het |
Nlrp5 |
T |
A |
7: 23,117,056 (GRCm39) |
I260N |
probably damaging |
Het |
Obscn |
G |
A |
11: 58,926,905 (GRCm39) |
R6190C |
probably damaging |
Het |
Or5b24 |
T |
C |
19: 12,912,624 (GRCm39) |
V174A |
possibly damaging |
Het |
Or5be3 |
A |
G |
2: 86,863,812 (GRCm39) |
F251S |
probably damaging |
Het |
Orc4 |
C |
T |
2: 48,807,285 (GRCm39) |
M215I |
probably benign |
Het |
Osbpl6 |
A |
T |
2: 76,420,735 (GRCm39) |
H770L |
probably damaging |
Het |
Otogl |
A |
C |
10: 107,616,849 (GRCm39) |
N1809K |
probably benign |
Het |
Pde3a |
G |
T |
6: 141,437,957 (GRCm39) |
V1009L |
probably damaging |
Het |
Pign |
T |
C |
1: 105,580,902 (GRCm39) |
Y159C |
probably damaging |
Het |
Pik3cg |
C |
A |
12: 32,247,196 (GRCm39) |
M842I |
probably damaging |
Het |
Pnliprp1 |
C |
T |
19: 58,723,314 (GRCm39) |
T235I |
possibly damaging |
Het |
Pramel17 |
A |
C |
4: 101,692,611 (GRCm39) |
V463G |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,381,480 (GRCm39) |
N239D |
probably damaging |
Het |
Psd2 |
T |
A |
18: 36,113,546 (GRCm39) |
|
probably benign |
Het |
Ptprt |
T |
C |
2: 161,393,668 (GRCm39) |
D1251G |
probably damaging |
Het |
Pwp2 |
G |
A |
10: 78,018,520 (GRCm39) |
S88L |
probably benign |
Het |
Rassf4 |
C |
T |
6: 116,624,516 (GRCm39) |
|
probably benign |
Het |
Rexo1 |
A |
G |
10: 80,380,684 (GRCm39) |
S884P |
probably damaging |
Het |
Rgs20 |
C |
A |
1: 5,091,037 (GRCm39) |
R131L |
possibly damaging |
Het |
Setd4 |
A |
G |
16: 93,386,834 (GRCm39) |
V288A |
probably benign |
Het |
Stx3 |
G |
T |
19: 11,763,110 (GRCm39) |
T160K |
probably damaging |
Het |
Tas2r102 |
T |
A |
6: 132,739,636 (GRCm39) |
S181R |
probably damaging |
Het |
Tenm3 |
T |
C |
8: 49,127,434 (GRCm39) |
|
probably benign |
Het |
Tmem33 |
T |
C |
5: 67,421,603 (GRCm39) |
|
probably benign |
Het |
Trim33 |
A |
G |
3: 103,259,306 (GRCm39) |
|
probably benign |
Het |
Trip11 |
A |
G |
12: 101,853,119 (GRCm39) |
I491T |
probably benign |
Het |
Trp53bp1 |
A |
G |
2: 121,058,653 (GRCm39) |
|
probably benign |
Het |
Tuba4a |
T |
C |
1: 75,193,017 (GRCm39) |
D199G |
probably benign |
Het |
Zcchc4 |
A |
G |
5: 52,953,321 (GRCm39) |
Y110C |
probably damaging |
Het |
Zp2 |
C |
T |
7: 119,734,693 (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 |
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 |
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'- TCTGAACCAGCAGAATGACAGCTTAAC -3'
(R):5'- TGCTTCACATCATGACAGCAGAAGTAG -3'
Sequencing Primer
(F):5'- cccttatgacctctattgggac -3'
(R):5'- GAGAATTTGTTCTGAAATACCAGGC -3'
|
Posted On |
2013-06-11 |