Incidental Mutation 'R1987:Nlrp9c'
ID |
222659 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrp9c
|
Ensembl Gene |
ENSMUSG00000040614 |
Gene Name |
NLR family, pyrin domain containing 9C |
Synonyms |
Nalp9c, Nalp-zeta |
MMRRC Submission |
039999-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1987 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
26064116-26103125 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26077481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 767
(M767T)
|
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: M712T
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000036041 Gene: ENSMUSG00000040614 AA Change: M712T
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: M767T
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000083106 Gene: ENSMUSG00000040614 AA Change: M767T
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: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
A |
T |
19: 8,992,615 (GRCm39) |
D4633V |
probably damaging |
Het |
Akap6 |
T |
C |
12: 53,187,578 (GRCm39) |
F1664S |
possibly damaging |
Het |
Arhgef28 |
T |
C |
13: 98,103,604 (GRCm39) |
M803V |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,008,134 (GRCm39) |
|
probably null |
Het |
Bltp2 |
A |
T |
11: 78,158,993 (GRCm39) |
Q433L |
probably damaging |
Het |
Ccdc73 |
T |
A |
2: 104,761,390 (GRCm39) |
L130* |
probably null |
Het |
Ccdc73 |
A |
G |
2: 104,829,504 (GRCm39) |
E1059G |
probably damaging |
Het |
Ccer2 |
A |
C |
7: 28,456,708 (GRCm39) |
S151R |
possibly damaging |
Het |
Cep128 |
T |
A |
12: 91,197,603 (GRCm39) |
H406L |
probably benign |
Het |
Cep135 |
A |
G |
5: 76,745,275 (GRCm39) |
D229G |
probably benign |
Het |
Cpvl |
T |
A |
6: 53,931,596 (GRCm39) |
D103V |
probably benign |
Het |
Crppa |
T |
A |
12: 36,571,995 (GRCm39) |
L301Q |
probably damaging |
Het |
Cstdc6 |
C |
A |
16: 36,142,194 (GRCm39) |
G61C |
probably damaging |
Het |
Disp3 |
G |
A |
4: 148,343,210 (GRCm39) |
A567V |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,343,737 (GRCm39) |
I2379T |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,072,027 (GRCm39) |
Y2433C |
probably damaging |
Het |
Dock3 |
A |
G |
9: 106,985,620 (GRCm39) |
I85T |
probably benign |
Het |
Dock9 |
A |
C |
14: 121,829,242 (GRCm39) |
S1380A |
probably benign |
Het |
Erbin |
T |
C |
13: 104,022,711 (GRCm39) |
T43A |
probably benign |
Het |
Fastkd3 |
T |
C |
13: 68,733,360 (GRCm39) |
V502A |
possibly damaging |
Het |
Fn1 |
T |
C |
1: 71,690,784 (GRCm39) |
H59R |
probably damaging |
Het |
Fsd2 |
A |
G |
7: 81,209,407 (GRCm39) |
V145A |
possibly damaging |
Het |
Fzr1 |
A |
G |
10: 81,206,153 (GRCm39) |
V178A |
probably damaging |
Het |
Gnpnat1 |
T |
C |
14: 45,618,455 (GRCm39) |
R116G |
probably damaging |
Het |
Grm7 |
T |
A |
6: 110,891,472 (GRCm39) |
V235E |
probably damaging |
Het |
Hdac4 |
A |
C |
1: 91,862,367 (GRCm39) |
N1002K |
probably damaging |
Het |
Hey1 |
C |
T |
3: 8,729,957 (GRCm39) |
A167T |
probably benign |
Het |
Hrnr |
A |
G |
3: 93,239,911 (GRCm39) |
N3383S |
unknown |
Het |
Ints2 |
A |
T |
11: 86,108,626 (GRCm39) |
V907D |
probably benign |
Het |
Jchain |
T |
A |
5: 88,669,326 (GRCm39) |
Q109L |
probably damaging |
Het |
Klhdc7a |
A |
T |
4: 139,693,335 (GRCm39) |
Y537* |
probably null |
Het |
Klra1 |
C |
T |
6: 130,354,742 (GRCm39) |
S92N |
probably benign |
Het |
Krt31 |
C |
T |
11: 99,940,406 (GRCm39) |
G150S |
probably benign |
Het |
Lrrc71 |
G |
A |
3: 87,649,950 (GRCm39) |
T326M |
probably benign |
Het |
Lrrn4 |
T |
C |
2: 132,712,363 (GRCm39) |
T487A |
probably benign |
Het |
Map4k5 |
T |
G |
12: 69,889,686 (GRCm39) |
R198S |
probably damaging |
Het |
Men1 |
G |
A |
19: 6,388,867 (GRCm39) |
C354Y |
probably damaging |
Het |
Ms4a18 |
A |
T |
19: 10,991,019 (GRCm39) |
V25E |
probably damaging |
Het |
Mutyh |
T |
A |
4: 116,676,565 (GRCm39) |
S512R |
possibly damaging |
Het |
Myh10 |
G |
T |
11: 68,705,322 (GRCm39) |
A1947S |
possibly damaging |
Het |
Nfasc |
T |
C |
1: 132,538,624 (GRCm39) |
D427G |
probably damaging |
Het |
Nrbp1 |
T |
C |
5: 31,402,735 (GRCm39) |
L185P |
probably damaging |
Het |
Pcdh9 |
G |
A |
14: 94,125,741 (GRCm39) |
P143L |
probably damaging |
Het |
Pcsk6 |
A |
T |
7: 65,577,035 (GRCm39) |
M158L |
possibly damaging |
Het |
Pkd1 |
G |
T |
17: 24,795,566 (GRCm39) |
|
probably null |
Het |
Plk4 |
A |
T |
3: 40,760,252 (GRCm39) |
S383C |
possibly damaging |
Het |
Plxna2 |
T |
C |
1: 194,326,297 (GRCm39) |
L77P |
probably damaging |
Het |
Pnpla6 |
A |
T |
8: 3,592,370 (GRCm39) |
T1209S |
probably benign |
Het |
Prdm2 |
A |
G |
4: 142,859,079 (GRCm39) |
S1404P |
possibly damaging |
Het |
Preb |
T |
C |
5: 31,116,157 (GRCm39) |
D150G |
probably damaging |
Het |
Prrt2 |
A |
G |
7: 126,617,902 (GRCm39) |
V59A |
probably benign |
Het |
Prss40 |
T |
C |
1: 34,597,095 (GRCm39) |
N151S |
possibly damaging |
Het |
Ptprt |
G |
T |
2: 161,400,818 (GRCm39) |
A1053D |
probably damaging |
Het |
Ptprt |
A |
G |
2: 161,608,241 (GRCm39) |
V685A |
possibly damaging |
Het |
Rfx4 |
C |
T |
10: 84,731,952 (GRCm39) |
S549F |
possibly damaging |
Het |
Rnaset2b |
T |
A |
17: 7,263,876 (GRCm39) |
V87E |
probably benign |
Het |
Rnf213 |
G |
A |
11: 119,331,933 (GRCm39) |
E2381K |
probably damaging |
Het |
Sectm1a |
A |
T |
11: 120,960,506 (GRCm39) |
I103N |
probably damaging |
Het |
Selp |
T |
A |
1: 163,970,327 (GRCm39) |
L597Q |
probably damaging |
Het |
Sema6a |
T |
C |
18: 47,433,209 (GRCm39) |
D74G |
probably damaging |
Het |
Serpinb9b |
T |
C |
13: 33,213,542 (GRCm39) |
V33A |
probably benign |
Het |
Setd1b |
A |
T |
5: 123,285,769 (GRCm39) |
T272S |
unknown |
Het |
Sgf29 |
G |
C |
7: 126,248,649 (GRCm39) |
|
probably null |
Het |
Slc4a10 |
C |
A |
2: 62,098,548 (GRCm39) |
Q561K |
probably damaging |
Het |
Slc4a5 |
T |
C |
6: 83,250,214 (GRCm39) |
I649T |
possibly damaging |
Het |
Slc5a7 |
A |
G |
17: 54,600,863 (GRCm39) |
Y91H |
probably damaging |
Het |
Styxl1 |
T |
C |
5: 135,785,976 (GRCm39) |
Y23C |
probably damaging |
Het |
Tbc1d24 |
A |
G |
17: 24,425,846 (GRCm39) |
V490A |
possibly damaging |
Het |
Tbpl2 |
A |
T |
2: 23,984,744 (GRCm39) |
F133L |
probably benign |
Het |
Tnfrsf22 |
T |
C |
7: 143,192,126 (GRCm39) |
|
probably benign |
Het |
Top2b |
A |
G |
14: 16,398,916 (GRCm38) |
E512G |
probably damaging |
Het |
Trgc3 |
C |
A |
13: 19,445,164 (GRCm39) |
F37L |
probably damaging |
Het |
Ttc17 |
T |
A |
2: 94,194,690 (GRCm39) |
H561L |
probably benign |
Het |
Ttll4 |
G |
T |
1: 74,724,527 (GRCm39) |
V566L |
possibly damaging |
Het |
Ubqlnl |
A |
G |
7: 103,797,692 (GRCm39) |
Y602H |
probably benign |
Het |
Vmn1r231 |
T |
A |
17: 21,110,212 (GRCm39) |
E234D |
probably damaging |
Het |
Wbp11 |
A |
G |
6: 136,797,583 (GRCm39) |
S279P |
probably damaging |
Het |
Wdr6 |
A |
G |
9: 108,453,733 (GRCm39) |
L50P |
probably damaging |
Het |
Zfp715 |
A |
C |
7: 42,948,073 (GRCm39) |
I629S |
possibly 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 |
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 |
R6020:Nlrp9c
|
UTSW |
7 |
26,084,150 (GRCm39) |
missense |
probably benign |
0.08 |
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'- GCATCTGAGGCATAGATAGTGAC -3'
(R):5'- TGGGGCATTTGTCTAAGCAATAC -3'
Sequencing Primer
(F):5'- TGACAGAGTCTAATGGCATAACAC -3'
(R):5'- GGCATTTGTCTAAGCAATACACAGTC -3'
|
Posted On |
2014-08-25 |