Incidental Mutation 'R2327:Nlrp9c'
| ID |
245691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp9c
|
| Ensembl Gene |
ENSMUSG00000040614 |
| Gene Name |
NLR family, pyrin domain containing 9C |
| Synonyms |
Nalp9c, Nalp-zeta |
| MMRRC Submission |
040318-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2327 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
26064116-26103125 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26074747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 816
(N816I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041845]
[ENSMUST00000085944]
|
| AlphaFold |
Q66X01 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041845
AA Change: N761I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036041
Gene: ENSMUSG00000040614
AA Change: N761I
| 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 damaging
Transcript: ENSMUST00000085944
AA Change: N816I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083106
Gene: ENSMUSG00000040614
AA Change: N816I
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
A |
T |
14: 64,208,569 (GRCm39) |
|
probably null |
Het |
| Agbl4 |
T |
G |
4: 111,383,798 (GRCm39) |
S218A |
probably benign |
Het |
| Apol11b |
T |
C |
15: 77,522,153 (GRCm39) |
E48G |
probably damaging |
Het |
| Atp4a |
T |
A |
7: 30,419,666 (GRCm39) |
N676K |
probably benign |
Het |
| Capn5 |
T |
A |
7: 97,775,574 (GRCm39) |
S456C |
probably benign |
Het |
| Ccar1 |
T |
C |
10: 62,600,161 (GRCm39) |
Y590C |
probably damaging |
Het |
| Ccdc188 |
G |
T |
16: 18,037,070 (GRCm39) |
G283W |
probably damaging |
Het |
| Cd69 |
A |
G |
6: 129,248,351 (GRCm39) |
V45A |
probably damaging |
Het |
| Col3a1 |
G |
T |
1: 45,377,771 (GRCm39) |
|
probably benign |
Het |
| Cyb561a3 |
A |
T |
19: 10,564,166 (GRCm39) |
T169S |
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,527,397 (GRCm39) |
I248L |
probably benign |
Het |
| Cyp2j13 |
T |
C |
4: 95,947,344 (GRCm39) |
T236A |
possibly damaging |
Het |
| Efs |
A |
G |
14: 55,154,961 (GRCm39) |
V426A |
probably benign |
Het |
| Eme2 |
A |
G |
17: 25,113,157 (GRCm39) |
L136S |
probably damaging |
Het |
| Fastkd1 |
T |
A |
2: 69,535,872 (GRCm39) |
K312* |
probably null |
Het |
| Fbxl12 |
A |
G |
9: 20,553,530 (GRCm39) |
L19P |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,110,913 (GRCm39) |
Y980* |
probably null |
Het |
| Fscn2 |
T |
A |
11: 120,257,527 (GRCm39) |
I296N |
probably damaging |
Het |
| Gabrg3 |
A |
G |
7: 56,384,835 (GRCm39) |
V242A |
probably benign |
Het |
| Galk2 |
A |
G |
2: 125,817,315 (GRCm39) |
H368R |
probably damaging |
Het |
| Gm12695 |
C |
T |
4: 96,657,893 (GRCm39) |
S92N |
probably benign |
Het |
| Gpalpp1 |
A |
T |
14: 76,336,031 (GRCm39) |
S196T |
probably benign |
Het |
| Gpld1 |
A |
T |
13: 25,168,804 (GRCm39) |
M773L |
probably benign |
Het |
| Haus8 |
A |
G |
8: 71,708,289 (GRCm39) |
|
probably null |
Het |
| Hirip3 |
A |
G |
7: 126,462,038 (GRCm39) |
R19G |
probably damaging |
Het |
| Inpp4a |
A |
G |
1: 37,405,247 (GRCm39) |
T92A |
probably damaging |
Het |
| Irgm2 |
A |
G |
11: 58,111,218 (GRCm39) |
D303G |
probably damaging |
Het |
| Kpna2rt |
C |
A |
17: 90,217,697 (GRCm39) |
R16S |
probably benign |
Het |
| Krtap5-2 |
T |
G |
7: 141,728,748 (GRCm39) |
S311R |
unknown |
Het |
| Krtdap |
T |
A |
7: 30,489,185 (GRCm39) |
|
probably null |
Het |
| Lce1g |
G |
T |
3: 92,658,140 (GRCm39) |
S56Y |
unknown |
Het |
| Lrrn1 |
G |
A |
6: 107,545,794 (GRCm39) |
V531I |
probably benign |
Het |
| Mctp2 |
T |
C |
7: 71,861,358 (GRCm39) |
E429G |
probably damaging |
Het |
| Mrgpra2b |
T |
G |
7: 47,113,793 (GRCm39) |
D287A |
probably damaging |
Het |
| Mterf3 |
T |
C |
13: 67,076,258 (GRCm39) |
T150A |
probably damaging |
Het |
| Mtus2 |
A |
G |
5: 148,014,725 (GRCm39) |
N506S |
probably benign |
Het |
| Myh15 |
G |
T |
16: 48,963,313 (GRCm39) |
V1085L |
probably benign |
Het |
| Myo9a |
A |
G |
9: 59,687,048 (GRCm39) |
N51S |
probably benign |
Het |
| Nlrc3 |
A |
T |
16: 3,771,304 (GRCm39) |
L196Q |
probably damaging |
Het |
| Nsun2 |
T |
C |
13: 69,767,700 (GRCm39) |
V218A |
probably benign |
Het |
| Nt5dc1 |
T |
C |
10: 34,189,673 (GRCm39) |
E339G |
possibly damaging |
Het |
| Or10ak14 |
C |
T |
4: 118,611,331 (GRCm39) |
V135I |
probably benign |
Het |
| Or51b6b |
A |
G |
7: 103,309,779 (GRCm39) |
V226A |
probably damaging |
Het |
| Or8j3c |
A |
T |
2: 86,253,165 (GRCm39) |
L285* |
probably null |
Het |
| Pik3ap1 |
A |
G |
19: 41,284,828 (GRCm39) |
I619T |
probably damaging |
Het |
| Plk1 |
A |
G |
7: 121,759,118 (GRCm39) |
D118G |
probably benign |
Het |
| Ppat |
T |
C |
5: 77,070,314 (GRCm39) |
D168G |
possibly damaging |
Het |
| Preb |
T |
C |
5: 31,115,849 (GRCm39) |
E198G |
probably damaging |
Het |
| Psg21 |
T |
C |
7: 18,386,378 (GRCm39) |
T203A |
possibly damaging |
Het |
| Rbm17 |
A |
G |
2: 11,602,942 (GRCm39) |
V54A |
probably damaging |
Het |
| Rgma |
T |
A |
7: 73,067,574 (GRCm39) |
D276E |
probably damaging |
Het |
| Ric8a |
T |
C |
7: 140,439,471 (GRCm39) |
L77P |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Scarf1 |
A |
C |
11: 75,416,854 (GRCm39) |
E765D |
probably damaging |
Het |
| Scart1 |
A |
T |
7: 139,803,890 (GRCm39) |
N363Y |
possibly damaging |
Het |
| Sec14l4 |
G |
A |
11: 3,990,041 (GRCm39) |
M113I |
probably benign |
Het |
| Senp1 |
C |
T |
15: 97,980,165 (GRCm39) |
C60Y |
probably damaging |
Het |
| Slc22a21 |
T |
A |
11: 53,842,130 (GRCm39) |
K549N |
probably benign |
Het |
| Slc39a10 |
T |
C |
1: 46,875,156 (GRCm39) |
S49G |
probably damaging |
Het |
| Spata13 |
T |
C |
14: 60,947,004 (GRCm39) |
M684T |
probably damaging |
Het |
| Spns1 |
T |
C |
7: 125,969,958 (GRCm39) |
T481A |
probably damaging |
Het |
| Stag1 |
A |
G |
9: 100,668,666 (GRCm39) |
Y198C |
possibly damaging |
Het |
| Tgfbr1 |
T |
A |
4: 47,402,833 (GRCm39) |
V210E |
probably damaging |
Het |
| Tnc |
C |
T |
4: 63,893,475 (GRCm39) |
E1604K |
possibly damaging |
Het |
| Tspan31 |
T |
C |
10: 126,904,365 (GRCm39) |
D143G |
probably benign |
Het |
| Tspan5 |
T |
A |
3: 138,603,903 (GRCm39) |
Y131* |
probably null |
Het |
| Ttc21a |
A |
G |
9: 119,795,189 (GRCm39) |
D1070G |
probably damaging |
Het |
| Vmn2r26 |
C |
T |
6: 124,016,708 (GRCm39) |
P391S |
probably benign |
Het |
| Vmn2r72 |
A |
G |
7: 85,387,464 (GRCm39) |
I700T |
probably damaging |
Het |
| Vps13c |
A |
C |
9: 67,821,102 (GRCm39) |
N1204T |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
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 |
|
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'- AAGTGACGATGACATTCGGAC -3'
(R):5'- GCAAGAGTGTTTAGCTATCTCAC -3'
Sequencing Primer
(F):5'- GACGATGACATTCGGACAATGCTATC -3'
(R):5'- GAGTGTTTAGCTATCTCACCAGAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation