Incidental Mutation 'R2318:Nlrp9a'
ID | 245555 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrp9a
|
Ensembl Gene |
ENSMUSG00000054102 |
Gene Name | NLR family, pyrin domain containing 9A |
Synonyms | Nalp9a, Nalp-theta, D7Ertd565e |
Accession Numbers | |
Is this an essential gene? |
Probably non essential (E-score: 0.063)
|
Stock # | R2318 (G1)
|
Quality Score | 225 |
Status |
Not validated
|
Chromosome | 7 |
Chromosomal Location | 26535023-26575615 bp(+) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
G to A
at 26573852 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 860
(V860M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112398
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071780]
[ENSMUST00000108387]
[ENSMUST00000117252]
[ENSMUST00000122040]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071780
AA Change: V917M
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000071685 Gene: ENSMUSG00000054102 AA Change: V917M
Domain | Start | End | E-Value | Type |
PYRIN
|
5 |
87 |
1.07e-25 |
SMART |
Pfam:NACHT
|
143 |
311 |
1e-32 |
PFAM |
LRR
|
637 |
664 |
1.42e0 |
SMART |
LRR
|
693 |
720 |
2.32e-1 |
SMART |
LRR
|
722 |
749 |
3e0 |
SMART |
LRR
|
750 |
777 |
1.12e-3 |
SMART |
LRR
|
779 |
806 |
2.17e0 |
SMART |
LRR
|
807 |
834 |
2.27e-4 |
SMART |
LRR
|
836 |
863 |
2.02e2 |
SMART |
LRR
|
864 |
891 |
6.24e1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108387
AA Change: V972M
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000104024 Gene: ENSMUSG00000054102 AA Change: V972M
Domain | Start | End | E-Value | Type |
PYRIN
|
5 |
87 |
1.07e-25 |
SMART |
Pfam:NACHT
|
143 |
311 |
7.7e-33 |
PFAM |
LRR
|
631 |
658 |
1.42e0 |
SMART |
LRR
|
692 |
719 |
1.42e0 |
SMART |
LRR
|
748 |
775 |
2.32e-1 |
SMART |
LRR
|
777 |
804 |
3e0 |
SMART |
LRR
|
805 |
832 |
1.12e-3 |
SMART |
LRR
|
834 |
861 |
2.17e0 |
SMART |
LRR
|
862 |
889 |
2.27e-4 |
SMART |
LRR
|
891 |
918 |
2.02e2 |
SMART |
LRR
|
919 |
946 |
6.24e1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117252
AA Change: V860M
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112398 Gene: ENSMUSG00000054102 AA Change: V860M
Domain | Start | End | E-Value | Type |
PYRIN
|
5 |
87 |
1.07e-25 |
SMART |
Pfam:NACHT
|
143 |
311 |
8.8e-34 |
PFAM |
LRR
|
637 |
664 |
1.42e0 |
SMART |
Blast:LRR
|
666 |
692 |
1e-5 |
BLAST |
LRR
|
693 |
720 |
2.32e-1 |
SMART |
LRR
|
722 |
749 |
3e0 |
SMART |
LRR
|
750 |
777 |
1.12e-3 |
SMART |
LRR
|
779 |
806 |
2.39e0 |
SMART |
LRR
|
807 |
834 |
6.24e1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122040
AA Change: V917M
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000113318 Gene: ENSMUSG00000054102 AA Change: V917M
Domain | Start | End | E-Value | Type |
PYRIN
|
5 |
87 |
1.07e-25 |
SMART |
Pfam:NACHT
|
143 |
311 |
1e-32 |
PFAM |
LRR
|
637 |
664 |
1.42e0 |
SMART |
LRR
|
693 |
720 |
2.32e-1 |
SMART |
LRR
|
722 |
749 |
3e0 |
SMART |
LRR
|
750 |
777 |
1.12e-3 |
SMART |
LRR
|
779 |
806 |
2.17e0 |
SMART |
LRR
|
807 |
834 |
2.27e-4 |
SMART |
LRR
|
836 |
863 |
2.02e2 |
SMART |
LRR
|
864 |
891 |
6.24e1 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI | |
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610010F05Rik |
A |
G |
11: 23,588,701 |
Y66H |
probably damaging |
Het |
Arhgef10 |
G |
A |
8: 14,928,855 |
A41T |
probably damaging |
Het |
Car15 |
T |
C |
16: 17,836,599 |
M158V |
probably benign |
Het |
Cinp |
C |
A |
12: 110,874,009 |
W113L |
probably damaging |
Het |
Col4a3 |
T |
A |
1: 82,648,569 |
|
probably null |
Het |
Csnk2b |
T |
C |
17: 35,118,061 |
Y101C |
possibly damaging |
Het |
Ddb1 |
C |
T |
19: 10,626,628 |
R900C |
probably damaging |
Het |
Eif4g2 |
A |
G |
7: 111,073,858 |
F876L |
possibly damaging |
Het |
F11 |
A |
G |
8: 45,248,638 |
S353P |
probably damaging |
Het |
Gm5868 |
T |
C |
5: 72,586,295 |
T27A |
probably benign |
Het |
Hist1h4d |
A |
G |
13: 23,581,756 |
Y52C |
probably damaging |
Het |
Mast1 |
T |
C |
8: 84,921,125 |
D540G |
probably damaging |
Het |
Mis18bp1 |
C |
T |
12: 65,140,843 |
V829M |
possibly damaging |
Het |
Mtus2 |
C |
T |
5: 148,107,082 |
R827* |
probably null |
Het |
Plod3 |
G |
C |
5: 136,988,146 |
A50P |
probably benign |
Het |
Prr14l |
T |
C |
5: 32,830,078 |
E691G |
probably benign |
Het |
Rad1 |
A |
G |
15: 10,490,409 |
N154S |
probably benign |
Het |
Smc2 |
T |
C |
4: 52,446,030 |
S133P |
probably damaging |
Het |
Sstr1 |
T |
A |
12: 58,212,776 |
S62T |
possibly damaging |
Het |
Thsd7a |
T |
C |
6: 12,405,147 |
Y766C |
probably damaging |
Het |
Timm44 |
A |
G |
8: 4,268,307 |
V129A |
probably benign |
Het |
Tinag |
T |
C |
9: 77,045,411 |
Y97C |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,108,934 |
R281C |
probably damaging |
Het |
Ubap2 |
A |
G |
4: 41,251,542 |
V30A |
probably damaging |
Het |
|
Other mutations in Nlrp9a |
|
Predicted Primers |
PCR Primer
(F):5'- GAAAGAGTCACACTTCCTCTCC -3'
(R):5'- CATGGTGTGCAACTTGGGAC -3'
Sequencing Primer
(F):5'- ATGCTGACATGGCTCAGTGAG -3'
(R):5'- TGTGCAACTTGGGACAGGGTATATAG -3'
|
Posted On | 2014-10-30 |