Incidental Mutation 'R9012:Nlrp9c'
| ID |
685688 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp9c
|
| Ensembl Gene |
ENSMUSG00000040614 |
| Gene Name |
NLR family, pyrin domain containing 9C |
| Synonyms |
Nalp9c, Nalp-zeta |
| MMRRC Submission |
068842-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9012 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
26064116-26103125 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26074733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 821
(I821F)
|
| 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: I766F
PolyPhen 2
Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000036041
Gene: ENSMUSG00000040614
AA Change: I766F
| 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: I821F
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000083106
Gene: ENSMUSG00000040614
AA Change: I821F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agt |
T |
C |
8: 125,290,954 (GRCm39) |
N118D |
probably benign |
Het |
| Apol8 |
T |
C |
15: 77,634,324 (GRCm39) |
D84G |
probably benign |
Het |
| Arl6ip5 |
T |
A |
6: 97,187,838 (GRCm39) |
D19E |
probably benign |
Het |
| B3gnt3 |
G |
T |
8: 72,145,673 (GRCm39) |
H232N |
probably damaging |
Het |
| Btbd10 |
T |
C |
7: 112,921,964 (GRCm39) |
K347R |
probably damaging |
Het |
| Capn5 |
C |
T |
7: 97,814,050 (GRCm39) |
|
probably benign |
Het |
| Ccdc181 |
C |
T |
1: 164,110,062 (GRCm39) |
R390W |
probably damaging |
Het |
| Cdc42bpa |
T |
C |
1: 179,859,077 (GRCm39) |
V93A |
|
Het |
| Cfap91 |
T |
C |
16: 38,122,335 (GRCm39) |
E712G |
probably damaging |
Het |
| Clcn1 |
A |
G |
6: 42,268,567 (GRCm39) |
I191V |
possibly damaging |
Het |
| Coro1c |
T |
C |
5: 113,988,737 (GRCm39) |
D202G |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,854,447 (GRCm39) |
I85T |
probably benign |
Het |
| Cyp2c55 |
C |
T |
19: 39,030,560 (GRCm39) |
T464I |
probably benign |
Het |
| Dlgap1 |
G |
A |
17: 70,823,182 (GRCm39) |
E56K |
possibly damaging |
Het |
| Dnajc6 |
T |
C |
4: 101,470,156 (GRCm39) |
F298L |
probably damaging |
Het |
| E130311K13Rik |
A |
T |
3: 63,822,934 (GRCm39) |
W237R |
probably damaging |
Het |
| Efcab3 |
G |
A |
11: 104,711,347 (GRCm39) |
|
probably null |
Het |
| Fes |
T |
A |
7: 80,032,884 (GRCm39) |
D287V |
possibly damaging |
Het |
| Fstl5 |
G |
T |
3: 76,567,027 (GRCm39) |
W557L |
probably damaging |
Het |
| Gad2 |
A |
G |
2: 22,580,263 (GRCm39) |
N555D |
possibly damaging |
Het |
| Gm10277 |
C |
T |
11: 77,676,848 (GRCm39) |
R41K |
unknown |
Het |
| Gm21834 |
T |
C |
17: 58,049,162 (GRCm39) |
E18G |
probably null |
Het |
| Hnrnpul2 |
T |
C |
19: 8,801,829 (GRCm39) |
F346L |
possibly damaging |
Het |
| Hspa4 |
A |
T |
11: 53,159,402 (GRCm39) |
V524E |
probably benign |
Het |
| Ikbke |
T |
C |
1: 131,201,190 (GRCm39) |
I207V |
probably damaging |
Het |
| Iqsec3 |
T |
C |
6: 121,389,996 (GRCm39) |
I492V |
unknown |
Het |
| Itsn1 |
C |
A |
16: 91,645,849 (GRCm39) |
F846L |
unknown |
Het |
| Ldhal6b |
A |
T |
17: 5,467,942 (GRCm39) |
Y331N |
probably damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,389,978 (GRCm39) |
T1816P |
probably benign |
Het |
| Lzts1 |
C |
T |
8: 69,593,550 (GRCm39) |
R19H |
probably damaging |
Het |
| Mast4 |
T |
A |
13: 102,934,606 (GRCm39) |
T338S |
probably benign |
Het |
| Mst1r |
A |
G |
9: 107,791,960 (GRCm39) |
E832G |
probably benign |
Het |
| Myom1 |
T |
G |
17: 71,407,103 (GRCm39) |
D1173E |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,021,423 (GRCm39) |
K806E |
probably benign |
Het |
| Or2ag13 |
T |
C |
7: 106,313,115 (GRCm39) |
M258V |
probably benign |
Het |
| Or4c120 |
A |
G |
2: 89,000,929 (GRCm39) |
I209T |
possibly damaging |
Het |
| Or6c215 |
A |
C |
10: 129,637,471 (GRCm39) |
S308A |
probably benign |
Het |
| Palld |
T |
A |
8: 62,173,697 (GRCm39) |
S321C |
possibly damaging |
Het |
| Pank4 |
C |
A |
4: 155,062,847 (GRCm39) |
|
probably benign |
Het |
| Prr35 |
A |
G |
17: 26,166,685 (GRCm39) |
L284P |
probably benign |
Het |
| Psg26 |
T |
A |
7: 18,216,596 (GRCm39) |
H81L |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,489,411 (GRCm39) |
E905K |
probably benign |
Het |
| Siglecg |
T |
A |
7: 43,060,523 (GRCm39) |
L301Q |
probably damaging |
Het |
| Slc25a15 |
A |
G |
8: 22,867,878 (GRCm39) |
W301R |
probably benign |
Het |
| Slco1b2 |
T |
A |
6: 141,602,554 (GRCm39) |
V169D |
probably damaging |
Het |
| Sned1 |
T |
C |
1: 93,212,320 (GRCm39) |
V1174A |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,982,491 (GRCm39) |
V363A |
probably damaging |
Het |
| Sppl3 |
C |
A |
5: 115,226,987 (GRCm39) |
P239T |
probably benign |
Het |
| Stox1 |
A |
T |
10: 62,500,611 (GRCm39) |
S650T |
probably benign |
Het |
| Tbc1d9b |
A |
G |
11: 50,040,688 (GRCm39) |
T402A |
probably benign |
Het |
| Tmem104 |
A |
T |
11: 115,092,144 (GRCm39) |
E84D |
probably benign |
Het |
| Tox4 |
T |
C |
14: 52,523,208 (GRCm39) |
V56A |
probably benign |
Het |
| Trav7-6 |
A |
G |
14: 53,954,604 (GRCm39) |
K65E |
probably benign |
Het |
| Treml2 |
A |
G |
17: 48,615,090 (GRCm39) |
T192A |
possibly damaging |
Het |
| Vmn2r110 |
T |
C |
17: 20,803,627 (GRCm39) |
D316G |
probably damaging |
Het |
| Vmn2r5 |
A |
T |
3: 64,411,915 (GRCm39) |
W218R |
probably damaging |
Het |
| Vwa3b |
A |
G |
1: 37,124,391 (GRCm39) |
S330G |
probably benign |
Het |
| Wdr81 |
A |
G |
11: 75,339,971 (GRCm39) |
V220A |
possibly damaging |
Het |
| Zbbx |
A |
G |
3: 74,968,960 (GRCm39) |
S504P |
possibly damaging |
Het |
| Zfp68 |
A |
T |
5: 138,605,283 (GRCm39) |
C347S |
probably damaging |
Het |
| Zfp936 |
T |
A |
7: 42,839,416 (GRCm39) |
C294* |
probably null |
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 |
|
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 |
|
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'- ATGGGTGGCAGACCTAAGAC -3'
(R):5'- AGAGTGTTTAGCTATCTCACCAGAC -3'
Sequencing Primer
(F):5'- GTGGCAGACCTAAGACAATTTCTG -3'
(R):5'- AGCTATCTCACCAGACTATTTCAGG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation