Incidental Mutation 'R4996:Nlrp9c'
ID |
385250 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrp9c
|
Ensembl Gene |
ENSMUSG00000040614 |
Gene Name |
NLR family, pyrin domain containing 9C |
Synonyms |
Nalp9c, Nalp-zeta |
MMRRC Submission |
042590-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4996 (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 T
at 26085172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 136
(F136I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083106
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041845]
[ENSMUST00000085944]
|
AlphaFold |
Q66X01 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041845
AA Change: F136I
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000036041 Gene: ENSMUSG00000040614 AA Change: F136I
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 |
possibly damaging
Transcript: ENSMUST00000085944
AA Change: F136I
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000083106 Gene: ENSMUSG00000040614 AA Change: F136I
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: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
Actl11 |
A |
G |
9: 107,808,934 (GRCm39) |
I1086V |
possibly damaging |
Het |
Adgrv1 |
T |
C |
13: 81,726,853 (GRCm39) |
S500G |
probably benign |
Het |
Ahcyl1 |
A |
T |
3: 107,575,603 (GRCm39) |
V394E |
probably damaging |
Het |
Alg9 |
T |
C |
9: 50,720,005 (GRCm39) |
F494L |
probably damaging |
Het |
Ankrd55 |
C |
A |
13: 112,492,622 (GRCm39) |
D264E |
possibly damaging |
Het |
Asb14 |
A |
G |
14: 26,634,073 (GRCm39) |
N426S |
possibly damaging |
Het |
Atm |
A |
T |
9: 53,435,807 (GRCm39) |
F168I |
probably benign |
Het |
Atp13a4 |
A |
T |
16: 29,290,822 (GRCm39) |
I209N |
probably damaging |
Het |
BB014433 |
A |
T |
8: 15,092,166 (GRCm39) |
L229Q |
probably benign |
Het |
Calml3 |
T |
C |
13: 3,854,142 (GRCm39) |
D21G |
probably damaging |
Het |
Capn10 |
A |
G |
1: 92,872,858 (GRCm39) |
N528S |
probably damaging |
Het |
Ccnl2 |
T |
A |
4: 155,897,981 (GRCm39) |
D141E |
possibly damaging |
Het |
Cd163 |
A |
G |
6: 124,296,106 (GRCm39) |
I817V |
probably benign |
Het |
Cgnl1 |
CTTGCCCAGGTT |
CTT |
9: 71,632,108 (GRCm39) |
|
probably benign |
Het |
Cln6 |
T |
A |
9: 62,757,937 (GRCm39) |
I232N |
probably damaging |
Het |
Col22a1 |
A |
C |
15: 71,879,010 (GRCm39) |
V49G |
probably damaging |
Het |
Csmd1 |
A |
T |
8: 15,960,452 (GRCm39) |
M3321K |
probably damaging |
Het |
Cyp2u1 |
T |
A |
3: 131,091,933 (GRCm39) |
M196L |
probably benign |
Het |
Dlec1 |
T |
G |
9: 118,975,118 (GRCm39) |
L1566R |
probably damaging |
Het |
Dnajc3 |
A |
G |
14: 119,209,839 (GRCm39) |
T305A |
probably benign |
Het |
Drp2 |
G |
A |
X: 133,342,065 (GRCm39) |
R567H |
probably damaging |
Homo |
Efhd1 |
G |
T |
1: 87,192,280 (GRCm39) |
G37W |
possibly damaging |
Het |
Exph5 |
G |
C |
9: 53,286,910 (GRCm39) |
E1330D |
possibly damaging |
Het |
Fbln2 |
A |
T |
6: 91,242,992 (GRCm39) |
Y913F |
probably benign |
Het |
Fmnl1 |
G |
A |
11: 103,073,482 (GRCm39) |
S167N |
possibly damaging |
Het |
Frs3 |
A |
G |
17: 48,012,635 (GRCm39) |
E114G |
probably damaging |
Het |
Gmpr2 |
T |
C |
14: 55,914,252 (GRCm39) |
I169T |
probably damaging |
Het |
Gria2 |
A |
G |
3: 80,614,448 (GRCm39) |
S531P |
probably damaging |
Het |
Hace1 |
G |
A |
10: 45,526,046 (GRCm39) |
A296T |
probably benign |
Het |
Ift70a1 |
C |
T |
2: 75,810,266 (GRCm39) |
G606S |
probably benign |
Het |
Inhbb |
A |
C |
1: 119,348,548 (GRCm39) |
L90R |
probably damaging |
Het |
Insr |
C |
T |
8: 3,242,665 (GRCm39) |
R18Q |
probably null |
Het |
Kdm6b |
G |
T |
11: 69,296,557 (GRCm39) |
P570Q |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,651,800 (GRCm39) |
V1803A |
probably benign |
Het |
Lpin3 |
T |
A |
2: 160,747,207 (GRCm39) |
L811Q |
probably damaging |
Het |
Lrrc8e |
C |
T |
8: 4,285,166 (GRCm39) |
L464F |
probably damaging |
Het |
Micall2 |
A |
G |
5: 139,696,344 (GRCm39) |
S729P |
probably benign |
Het |
Naca |
C |
T |
10: 127,878,298 (GRCm39) |
|
probably benign |
Het |
Nav1 |
A |
T |
1: 135,393,709 (GRCm39) |
S1010T |
probably damaging |
Het |
Nefm |
T |
C |
14: 68,358,570 (GRCm39) |
|
probably benign |
Het |
Nup210 |
A |
T |
6: 91,030,418 (GRCm39) |
F137Y |
probably benign |
Het |
Or1o3 |
A |
G |
17: 37,573,758 (GRCm39) |
S266P |
probably benign |
Het |
Or3a1c |
A |
G |
11: 74,046,157 (GRCm39) |
H59R |
probably damaging |
Het |
Or8k32 |
T |
C |
2: 86,368,615 (GRCm39) |
I215V |
probably benign |
Het |
Otog |
C |
A |
7: 45,948,030 (GRCm39) |
H2344N |
possibly damaging |
Het |
Otog |
C |
A |
7: 45,954,934 (GRCm39) |
C517* |
probably null |
Het |
Pcdhac1 |
C |
T |
18: 37,225,580 (GRCm39) |
Q798* |
probably null |
Het |
Pdhx |
T |
C |
2: 102,860,657 (GRCm39) |
D330G |
probably damaging |
Het |
Peg10 |
ACATCAGGATCC |
ACATCAGGATCCCCATCAGGATCC |
6: 4,756,454 (GRCm39) |
|
probably benign |
Het |
Pgr |
C |
A |
9: 8,900,914 (GRCm39) |
P149Q |
probably damaging |
Het |
Plaat1 |
G |
A |
16: 29,036,456 (GRCm39) |
W31* |
probably null |
Het |
Ppm1h |
A |
T |
10: 122,777,245 (GRCm39) |
I504F |
probably damaging |
Het |
Ppp6r3 |
A |
G |
19: 3,523,833 (GRCm39) |
S556P |
probably damaging |
Het |
Ranbp9 |
G |
A |
13: 43,578,570 (GRCm39) |
Q168* |
probably null |
Het |
Relb |
A |
T |
7: 19,349,528 (GRCm39) |
L259Q |
probably benign |
Het |
Rfx5 |
G |
A |
3: 94,863,126 (GRCm39) |
V73I |
probably benign |
Het |
Rgcc |
T |
C |
14: 79,527,716 (GRCm39) |
D125G |
possibly damaging |
Het |
Rmnd5b |
A |
G |
11: 51,518,735 (GRCm39) |
V86A |
probably damaging |
Het |
Slc15a5 |
G |
A |
6: 138,020,583 (GRCm39) |
T250M |
probably damaging |
Het |
Slc7a2 |
A |
T |
8: 41,365,599 (GRCm39) |
K477* |
probably null |
Het |
Slx9 |
A |
T |
10: 77,351,367 (GRCm39) |
W14R |
probably null |
Het |
Smc2 |
T |
A |
4: 52,461,042 (GRCm39) |
|
probably null |
Het |
Sox5 |
A |
T |
6: 143,974,070 (GRCm39) |
L226* |
probably null |
Het |
Sp140l2 |
G |
T |
1: 85,224,815 (GRCm39) |
A240E |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,990,724 (GRCm39) |
E1903G |
possibly damaging |
Het |
Tenm3 |
A |
T |
8: 48,688,861 (GRCm39) |
I2226N |
probably damaging |
Het |
Tmtc3 |
A |
T |
10: 100,283,086 (GRCm39) |
I823N |
probably damaging |
Het |
Top6bl |
T |
A |
19: 4,676,112 (GRCm39) |
K673N |
probably benign |
Het |
Tor3a |
T |
C |
1: 156,483,342 (GRCm39) |
Y360C |
probably damaging |
Het |
Trpc3 |
T |
C |
3: 36,716,967 (GRCm39) |
E357G |
probably benign |
Het |
Tubgcp6 |
A |
T |
15: 88,987,693 (GRCm39) |
N1093K |
possibly damaging |
Het |
Vmn1r64 |
T |
A |
7: 5,887,052 (GRCm39) |
T164S |
probably benign |
Het |
Vmn2r40 |
T |
A |
7: 8,911,166 (GRCm39) |
Q709L |
probably damaging |
Het |
Vmn2r81 |
A |
T |
10: 79,129,247 (GRCm39) |
I713L |
probably benign |
Het |
Washc5 |
T |
C |
15: 59,205,484 (GRCm39) |
T686A |
probably benign |
Het |
Wipf1 |
GCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCC |
2: 73,270,418 (GRCm39) |
|
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 |
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 |
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'- GCTAAGCTTAACTCTGTGGTATTG -3'
(R):5'- TCAGAACCCATGGTCATGCAG -3'
Sequencing Primer
(F):5'- CTGTGGTATTGTTAAGTGAGAAGAC -3'
(R):5'- CCCATGGTCATGCAGAAGTATAG -3'
|
Posted On |
2016-05-10 |