Incidental Mutation 'R6020:Nlrp9c'
ID |
478864 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrp9c
|
Ensembl Gene |
ENSMUSG00000040614 |
Gene Name |
NLR family, pyrin domain containing 9C |
Synonyms |
Nalp9c, Nalp-zeta |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6020 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
26064116-26103125 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26084150 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 476
(I476M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083106
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041845]
[ENSMUST00000085944]
|
AlphaFold |
Q66X01 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041845
AA Change: I476M
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000036041 Gene: ENSMUSG00000040614 AA Change: I476M
Domain | Start | End | E-Value | Type |
PYRIN
|
5 |
87 |
7.64e-22 |
SMART |
Pfam:NACHT
|
143 |
310 |
5.2e-31 |
PFAM |
LRR
|
637 |
664 |
4.36e1 |
SMART |
Blast:LRR
|
666 |
691 |
3e-6 |
BLAST |
LRR
|
693 |
720 |
1.02e0 |
SMART |
LRR
|
722 |
749 |
3e0 |
SMART |
LRR
|
750 |
777 |
6.88e-4 |
SMART |
LRR
|
779 |
806 |
5.06e0 |
SMART |
LRR
|
807 |
834 |
1.22e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000085944
AA Change: I476M
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000083106 Gene: ENSMUSG00000040614 AA Change: I476M
Domain | Start | End | E-Value | Type |
PYRIN
|
5 |
87 |
7.64e-22 |
SMART |
Pfam:NACHT
|
143 |
310 |
2.8e-31 |
PFAM |
LRR
|
631 |
658 |
7.49e0 |
SMART |
LRR
|
692 |
719 |
4.36e1 |
SMART |
Blast:LRR
|
721 |
746 |
8e-6 |
BLAST |
LRR
|
748 |
775 |
1.02e0 |
SMART |
LRR
|
777 |
804 |
3e0 |
SMART |
LRR
|
805 |
832 |
6.88e-4 |
SMART |
LRR
|
834 |
861 |
2.17e0 |
SMART |
LRR
|
862 |
889 |
2.12e-4 |
SMART |
LRR
|
919 |
946 |
1.22e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160514
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160948
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
C |
A |
11: 110,036,439 (GRCm39) |
V557F |
possibly damaging |
Het |
Abi3 |
A |
T |
11: 95,732,851 (GRCm39) |
L41* |
probably null |
Het |
Actn1 |
C |
A |
12: 80,221,229 (GRCm39) |
|
probably null |
Het |
Adamts15 |
G |
T |
9: 30,813,358 (GRCm39) |
R936S |
probably benign |
Het |
Angel2 |
T |
C |
1: 190,665,068 (GRCm39) |
S22P |
probably benign |
Het |
Ank2 |
T |
G |
3: 126,740,470 (GRCm39) |
|
probably benign |
Het |
Astn1 |
A |
G |
1: 158,337,563 (GRCm39) |
D423G |
probably damaging |
Het |
Casp9 |
A |
G |
4: 141,523,849 (GRCm39) |
D78G |
probably damaging |
Het |
Cbr4 |
A |
G |
8: 61,940,887 (GRCm39) |
D2G |
probably benign |
Het |
Ccdc8 |
T |
A |
7: 16,730,506 (GRCm39) |
L665H |
probably damaging |
Het |
Cdh23 |
T |
A |
10: 60,167,105 (GRCm39) |
N1847I |
probably damaging |
Het |
Cnst |
T |
C |
1: 179,437,440 (GRCm39) |
W335R |
probably benign |
Het |
Ddr2 |
T |
A |
1: 169,832,671 (GRCm39) |
I130F |
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,391,665 (GRCm39) |
A677T |
probably benign |
Het |
Dzip3 |
C |
A |
16: 48,772,205 (GRCm39) |
W488L |
probably damaging |
Het |
Ephb3 |
T |
G |
16: 21,040,763 (GRCm39) |
I637S |
probably damaging |
Het |
Etv3 |
A |
G |
3: 87,436,671 (GRCm39) |
D142G |
probably benign |
Het |
Fabp5 |
C |
T |
3: 10,081,149 (GRCm39) |
T126I |
probably benign |
Het |
Fam13b |
A |
C |
18: 34,627,827 (GRCm39) |
Y125D |
probably damaging |
Het |
Fsip2 |
C |
A |
2: 82,822,471 (GRCm39) |
P6068Q |
probably damaging |
Het |
Gm11232 |
A |
G |
4: 71,674,905 (GRCm39) |
F199S |
possibly damaging |
Het |
Gm5493 |
A |
G |
17: 22,967,034 (GRCm39) |
K57E |
probably benign |
Het |
Gm7334 |
A |
G |
17: 51,006,265 (GRCm39) |
M184V |
probably benign |
Het |
Gm9894 |
T |
C |
13: 67,911,954 (GRCm39) |
|
noncoding transcript |
Het |
Gpd2 |
T |
A |
2: 57,254,525 (GRCm39) |
N674K |
probably benign |
Het |
H2-M10.6 |
A |
G |
17: 37,123,959 (GRCm39) |
Y141C |
probably damaging |
Het |
Heatr5a |
C |
T |
12: 51,931,110 (GRCm39) |
E1796K |
probably benign |
Het |
Hexim2 |
A |
G |
11: 103,029,118 (GRCm39) |
T57A |
probably benign |
Het |
Hrg |
A |
T |
16: 22,773,268 (GRCm39) |
N134Y |
probably damaging |
Het |
Hsd17b12 |
T |
C |
2: 93,864,322 (GRCm39) |
T262A |
probably damaging |
Het |
Irak3 |
G |
T |
10: 119,979,042 (GRCm39) |
P470T |
probably damaging |
Het |
Itgbl1 |
A |
T |
14: 124,083,977 (GRCm39) |
D285V |
probably damaging |
Het |
Kcp |
A |
T |
6: 29,502,863 (GRCm39) |
V164E |
probably benign |
Het |
Klhdc7b |
T |
A |
15: 89,272,589 (GRCm39) |
M1157K |
probably damaging |
Het |
Lcor |
G |
A |
19: 41,571,986 (GRCm39) |
G247D |
possibly damaging |
Het |
Mdc1 |
G |
A |
17: 36,159,525 (GRCm39) |
G635D |
probably benign |
Het |
Mdc1 |
A |
G |
17: 36,168,464 (GRCm39) |
K1690R |
probably benign |
Het |
Mpp3 |
A |
T |
11: 101,909,365 (GRCm39) |
|
probably benign |
Het |
Ncor2 |
G |
T |
5: 125,097,075 (GRCm39) |
H2285N |
probably benign |
Het |
Neb |
T |
A |
2: 52,147,839 (GRCm39) |
T2727S |
probably benign |
Het |
Nkx6-2 |
T |
C |
7: 139,161,483 (GRCm39) |
D234G |
possibly damaging |
Het |
Nrsn1 |
T |
G |
13: 25,437,355 (GRCm39) |
Q191P |
probably damaging |
Het |
Or14j10 |
A |
T |
17: 37,934,858 (GRCm39) |
S223T |
possibly damaging |
Het |
Or1e30 |
C |
T |
11: 73,678,378 (GRCm39) |
L205F |
probably benign |
Het |
Or51ag1 |
T |
A |
7: 103,156,006 (GRCm39) |
H49L |
probably benign |
Het |
Patl1 |
T |
G |
19: 11,914,718 (GRCm39) |
L623R |
probably damaging |
Het |
Pdc |
T |
C |
1: 150,209,117 (GRCm39) |
I200T |
probably benign |
Het |
Pdzk1 |
A |
G |
3: 96,775,742 (GRCm39) |
D370G |
probably benign |
Het |
Pglyrp3 |
A |
T |
3: 91,938,841 (GRCm39) |
I339F |
probably damaging |
Het |
Plxnb1 |
T |
C |
9: 108,945,679 (GRCm39) |
V2070A |
probably damaging |
Het |
Poln |
G |
A |
5: 34,266,775 (GRCm39) |
R461C |
probably damaging |
Het |
Prl2b1 |
C |
A |
13: 27,567,491 (GRCm39) |
V218L |
probably damaging |
Het |
Pygl |
T |
C |
12: 70,263,428 (GRCm39) |
D55G |
probably damaging |
Het |
Rif1 |
C |
G |
2: 51,985,856 (GRCm39) |
L614V |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rsrp1 |
T |
C |
4: 134,651,692 (GRCm39) |
F152S |
probably damaging |
Het |
Sim2 |
T |
C |
16: 93,898,110 (GRCm39) |
S115P |
probably damaging |
Het |
Slc17a1 |
T |
A |
13: 24,059,593 (GRCm39) |
I108K |
possibly damaging |
Het |
Slc30a8 |
A |
G |
15: 52,189,054 (GRCm39) |
D223G |
probably damaging |
Het |
Slc39a4 |
A |
T |
15: 76,500,342 (GRCm39) |
N69K |
probably benign |
Het |
Slc51a |
T |
G |
16: 32,298,584 (GRCm39) |
T58P |
probably damaging |
Het |
Slc7a14 |
T |
C |
3: 31,278,261 (GRCm39) |
H448R |
probably benign |
Het |
Smc3 |
G |
A |
19: 53,613,594 (GRCm39) |
|
probably null |
Het |
Sox6 |
A |
T |
7: 115,085,863 (GRCm39) |
D659E |
probably damaging |
Het |
Stard9 |
GCCC |
GCC |
2: 120,524,196 (GRCm39) |
|
probably null |
Het |
Tsr1 |
C |
T |
11: 74,791,119 (GRCm39) |
|
probably null |
Het |
Ttc12 |
T |
C |
9: 49,354,422 (GRCm39) |
K565E |
probably damaging |
Het |
Ube4b |
A |
T |
4: 149,452,768 (GRCm39) |
V386E |
probably benign |
Het |
Ush2a |
T |
A |
1: 188,460,293 (GRCm39) |
|
probably null |
Het |
Usp5 |
C |
A |
6: 124,794,576 (GRCm39) |
|
probably benign |
Het |
Vmn1r216 |
T |
C |
13: 23,284,105 (GRCm39) |
F263L |
probably benign |
Het |
Vmn2r88 |
T |
A |
14: 51,655,606 (GRCm39) |
L606* |
probably null |
Het |
Wee2 |
T |
A |
6: 40,426,554 (GRCm39) |
|
probably null |
Het |
Zfhx3 |
T |
C |
8: 109,519,159 (GRCm39) |
Y94H |
probably damaging |
Het |
Zfp385c |
G |
A |
11: 100,523,594 (GRCm39) |
P120L |
probably benign |
Het |
Zscan4-ps3 |
T |
C |
7: 11,344,228 (GRCm39) |
F62S |
probably damaging |
Het |
|
Other mutations in Nlrp9c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00489:Nlrp9c
|
APN |
7 |
26,084,013 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00814:Nlrp9c
|
APN |
7 |
26,084,175 (GRCm39) |
missense |
probably benign |
0.23 |
IGL00919:Nlrp9c
|
APN |
7 |
26,093,481 (GRCm39) |
nonsense |
probably null |
|
IGL01762:Nlrp9c
|
APN |
7 |
26,084,850 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01928:Nlrp9c
|
APN |
7 |
26,074,847 (GRCm39) |
splice site |
probably benign |
|
IGL02008:Nlrp9c
|
APN |
7 |
26,084,576 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02389:Nlrp9c
|
APN |
7 |
26,093,632 (GRCm39) |
missense |
probably benign |
|
IGL02535:Nlrp9c
|
APN |
7 |
26,071,522 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02685:Nlrp9c
|
APN |
7 |
26,084,982 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02904:Nlrp9c
|
APN |
7 |
26,074,715 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02935:Nlrp9c
|
APN |
7 |
26,084,701 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03006:Nlrp9c
|
APN |
7 |
26,071,507 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03140:Nlrp9c
|
APN |
7 |
26,079,914 (GRCm39) |
missense |
probably benign |
0.30 |
IGL03201:Nlrp9c
|
APN |
7 |
26,084,533 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03243:Nlrp9c
|
APN |
7 |
26,064,457 (GRCm39) |
missense |
probably damaging |
0.99 |
holy_grail
|
UTSW |
7 |
26,081,837 (GRCm39) |
missense |
probably benign |
|
IGL03054:Nlrp9c
|
UTSW |
7 |
26,081,701 (GRCm39) |
splice site |
probably null |
|
K7894:Nlrp9c
|
UTSW |
7 |
26,084,323 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0018:Nlrp9c
|
UTSW |
7 |
26,071,423 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0018:Nlrp9c
|
UTSW |
7 |
26,071,423 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0238:Nlrp9c
|
UTSW |
7 |
26,077,437 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0238:Nlrp9c
|
UTSW |
7 |
26,077,437 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0335:Nlrp9c
|
UTSW |
7 |
26,093,561 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0391:Nlrp9c
|
UTSW |
7 |
26,070,901 (GRCm39) |
splice site |
probably benign |
|
R0433:Nlrp9c
|
UTSW |
7 |
26,085,244 (GRCm39) |
missense |
probably benign |
0.20 |
R1035:Nlrp9c
|
UTSW |
7 |
26,070,702 (GRCm39) |
splice site |
probably benign |
|
R1118:Nlrp9c
|
UTSW |
7 |
26,083,862 (GRCm39) |
missense |
probably benign |
0.01 |
R1119:Nlrp9c
|
UTSW |
7 |
26,083,862 (GRCm39) |
missense |
probably benign |
0.01 |
R1173:Nlrp9c
|
UTSW |
7 |
26,079,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R1519:Nlrp9c
|
UTSW |
7 |
26,077,526 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1528:Nlrp9c
|
UTSW |
7 |
26,081,723 (GRCm39) |
missense |
probably damaging |
0.99 |
R1616:Nlrp9c
|
UTSW |
7 |
26,083,862 (GRCm39) |
missense |
probably benign |
0.01 |
R1774:Nlrp9c
|
UTSW |
7 |
26,093,543 (GRCm39) |
missense |
probably benign |
0.05 |
R1789:Nlrp9c
|
UTSW |
7 |
26,079,915 (GRCm39) |
missense |
probably benign |
0.00 |
R1869:Nlrp9c
|
UTSW |
7 |
26,084,245 (GRCm39) |
nonsense |
probably null |
|
R1870:Nlrp9c
|
UTSW |
7 |
26,084,245 (GRCm39) |
nonsense |
probably null |
|
R1920:Nlrp9c
|
UTSW |
7 |
26,084,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R1987:Nlrp9c
|
UTSW |
7 |
26,077,481 (GRCm39) |
missense |
probably benign |
0.31 |
R2022:Nlrp9c
|
UTSW |
7 |
26,084,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R2309:Nlrp9c
|
UTSW |
7 |
26,077,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R2327:Nlrp9c
|
UTSW |
7 |
26,074,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R3405:Nlrp9c
|
UTSW |
7 |
26,084,707 (GRCm39) |
missense |
probably benign |
0.01 |
R3548:Nlrp9c
|
UTSW |
7 |
26,070,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R3846:Nlrp9c
|
UTSW |
7 |
26,081,701 (GRCm39) |
splice site |
probably null |
|
R4179:Nlrp9c
|
UTSW |
7 |
26,084,086 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4460:Nlrp9c
|
UTSW |
7 |
26,077,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R4669:Nlrp9c
|
UTSW |
7 |
26,074,793 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4708:Nlrp9c
|
UTSW |
7 |
26,084,265 (GRCm39) |
missense |
probably benign |
0.07 |
R4810:Nlrp9c
|
UTSW |
7 |
26,077,602 (GRCm39) |
splice site |
probably null |
|
R4824:Nlrp9c
|
UTSW |
7 |
26,079,989 (GRCm39) |
missense |
possibly damaging |
0.49 |
R4915:Nlrp9c
|
UTSW |
7 |
26,083,885 (GRCm39) |
missense |
probably benign |
0.34 |
R4996:Nlrp9c
|
UTSW |
7 |
26,085,172 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5468:Nlrp9c
|
UTSW |
7 |
26,064,425 (GRCm39) |
missense |
probably benign |
0.00 |
R5525:Nlrp9c
|
UTSW |
7 |
26,083,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R5526:Nlrp9c
|
UTSW |
7 |
26,081,791 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6175:Nlrp9c
|
UTSW |
7 |
26,077,426 (GRCm39) |
splice site |
probably null |
|
R6454:Nlrp9c
|
UTSW |
7 |
26,085,199 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6493:Nlrp9c
|
UTSW |
7 |
26,081,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R6649:Nlrp9c
|
UTSW |
7 |
26,070,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R6653:Nlrp9c
|
UTSW |
7 |
26,070,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R6739:Nlrp9c
|
UTSW |
7 |
26,084,850 (GRCm39) |
missense |
probably damaging |
0.99 |
R6883:Nlrp9c
|
UTSW |
7 |
26,077,556 (GRCm39) |
missense |
probably benign |
0.18 |
R7097:Nlrp9c
|
UTSW |
7 |
26,085,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R7122:Nlrp9c
|
UTSW |
7 |
26,085,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R7174:Nlrp9c
|
UTSW |
7 |
26,084,722 (GRCm39) |
missense |
probably benign |
0.03 |
R7365:Nlrp9c
|
UTSW |
7 |
26,070,822 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7378:Nlrp9c
|
UTSW |
7 |
26,064,440 (GRCm39) |
missense |
probably benign |
0.14 |
R7427:Nlrp9c
|
UTSW |
7 |
26,070,860 (GRCm39) |
missense |
probably benign |
0.00 |
R7450:Nlrp9c
|
UTSW |
7 |
26,064,364 (GRCm39) |
missense |
probably benign |
0.45 |
R7999:Nlrp9c
|
UTSW |
7 |
26,084,914 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8036:Nlrp9c
|
UTSW |
7 |
26,070,864 (GRCm39) |
missense |
possibly damaging |
0.49 |
R8056:Nlrp9c
|
UTSW |
7 |
26,085,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R8249:Nlrp9c
|
UTSW |
7 |
26,074,778 (GRCm39) |
nonsense |
probably null |
|
R8729:Nlrp9c
|
UTSW |
7 |
26,071,428 (GRCm39) |
missense |
probably benign |
0.12 |
R9012:Nlrp9c
|
UTSW |
7 |
26,074,733 (GRCm39) |
missense |
probably benign |
0.18 |
R9104:Nlrp9c
|
UTSW |
7 |
26,081,837 (GRCm39) |
missense |
probably benign |
|
R9106:Nlrp9c
|
UTSW |
7 |
26,081,837 (GRCm39) |
missense |
probably benign |
|
R9129:Nlrp9c
|
UTSW |
7 |
26,077,428 (GRCm39) |
critical splice donor site |
probably null |
|
R9519:Nlrp9c
|
UTSW |
7 |
26,085,302 (GRCm39) |
missense |
possibly damaging |
0.91 |
RF020:Nlrp9c
|
UTSW |
7 |
26,084,649 (GRCm39) |
missense |
probably benign |
|
X0065:Nlrp9c
|
UTSW |
7 |
26,079,855 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Nlrp9c
|
UTSW |
7 |
26,084,250 (GRCm39) |
missense |
possibly damaging |
0.54 |
Z1177:Nlrp9c
|
UTSW |
7 |
26,084,200 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Nlrp9c
|
UTSW |
7 |
26,081,773 (GRCm39) |
missense |
probably benign |
0.28 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGATGCACCAGTTTCTCATTAC -3'
(R):5'- TGTGTTTGACTCTGAGGACCTC -3'
Sequencing Primer
(F):5'- CATTACACTCTGGTTGACTGAGAC -3'
(R):5'- TATCTGAATCTGATAAGACAGTGTGG -3'
|
Posted On |
2017-06-26 |