Incidental Mutation 'R7174:Nlrp9c'
ID |
558491 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrp9c
|
Ensembl Gene |
ENSMUSG00000040614 |
Gene Name |
NLR family, pyrin domain containing 9C |
Synonyms |
Nalp9c, Nalp-zeta |
MMRRC Submission |
045266-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7174 (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 C
at 26084722 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 286
(N286D)
|
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: N286D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000036041 Gene: ENSMUSG00000040614 AA Change: N286D
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: N286D
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000083106 Gene: ENSMUSG00000040614 AA Change: N286D
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: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
97% (61/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
C |
A |
5: 144,981,627 (GRCm39) |
A154E |
probably benign |
Het |
Adamts1 |
C |
A |
16: 85,596,060 (GRCm39) |
A419S |
probably benign |
Het |
Arap2 |
C |
G |
5: 62,761,621 (GRCm39) |
V1702L |
probably benign |
Het |
Arpc1a |
C |
T |
5: 145,034,087 (GRCm39) |
P152S |
probably benign |
Het |
Bbs10 |
T |
A |
10: 111,136,628 (GRCm39) |
C580* |
probably null |
Het |
Bcam |
A |
G |
7: 19,499,376 (GRCm39) |
Y216H |
probably damaging |
Het |
C2cd3 |
T |
C |
7: 100,081,405 (GRCm39) |
S1016P |
|
Het |
Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
Ceacam5 |
T |
A |
7: 17,491,839 (GRCm39) |
|
probably null |
Het |
Cfap57 |
A |
G |
4: 118,446,264 (GRCm39) |
V666A |
probably benign |
Het |
Cntn3 |
A |
G |
6: 102,142,305 (GRCm39) |
F1021L |
probably benign |
Het |
Cr1l |
C |
T |
1: 194,811,497 (GRCm39) |
G119D |
probably benign |
Het |
Fgf10 |
A |
T |
13: 118,851,942 (GRCm39) |
H8L |
probably benign |
Het |
Fras1 |
T |
A |
5: 96,903,436 (GRCm39) |
|
probably null |
Het |
Frem1 |
G |
T |
4: 82,840,493 (GRCm39) |
T1811N |
probably benign |
Het |
Fsd1 |
A |
T |
17: 56,298,356 (GRCm39) |
Q227L |
probably benign |
Het |
Galk2 |
A |
G |
2: 125,738,621 (GRCm39) |
I138M |
probably damaging |
Het |
Igkv8-30 |
A |
G |
6: 70,094,582 (GRCm39) |
V7A |
possibly damaging |
Het |
Katnb1 |
G |
A |
8: 95,824,069 (GRCm39) |
A450T |
probably benign |
Het |
Kif14 |
A |
T |
1: 136,448,995 (GRCm39) |
E1465V |
possibly damaging |
Het |
Klra3 |
A |
T |
6: 130,312,941 (GRCm39) |
|
probably null |
Het |
Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
Lepr |
A |
G |
4: 101,607,535 (GRCm39) |
N251S |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,263,416 (GRCm39) |
M4379V |
probably benign |
Het |
Lrriq1 |
T |
C |
10: 103,060,826 (GRCm39) |
N92S |
probably benign |
Het |
Map3k13 |
A |
G |
16: 21,745,006 (GRCm39) |
N855S |
probably damaging |
Het |
Marf1 |
T |
A |
16: 13,954,817 (GRCm39) |
D900V |
probably damaging |
Het |
Nckap5l |
A |
T |
15: 99,321,884 (GRCm39) |
M1087K |
probably benign |
Het |
Or12j4 |
T |
C |
7: 140,047,076 (GRCm39) |
*321Q |
probably null |
Het |
Or13c7d |
C |
T |
4: 43,770,691 (GRCm39) |
A107T |
not run |
Het |
Or4k2 |
T |
C |
14: 50,424,153 (GRCm39) |
I175V |
probably benign |
Het |
Or51ah3 |
A |
T |
7: 103,210,598 (GRCm39) |
R305* |
probably null |
Het |
Or5g9 |
C |
T |
2: 85,552,297 (GRCm39) |
P183S |
possibly damaging |
Het |
Or5p72 |
T |
A |
7: 108,022,367 (GRCm39) |
S196R |
probably benign |
Het |
Pcdhga3 |
A |
G |
18: 37,808,980 (GRCm39) |
T478A |
probably benign |
Het |
Pdgfrb |
T |
C |
18: 61,199,587 (GRCm39) |
I385T |
probably benign |
Het |
Poteg |
C |
T |
8: 27,943,305 (GRCm39) |
R192W |
probably benign |
Het |
Prmt2 |
G |
T |
10: 76,061,173 (GRCm39) |
D104E |
probably benign |
Het |
Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
Rlbp1 |
T |
C |
7: 79,027,090 (GRCm39) |
N190S |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,816,063 (GRCm39) |
D641G |
possibly damaging |
Het |
Sh3gl1 |
A |
T |
17: 56,324,846 (GRCm39) |
M303K |
probably benign |
Het |
Slc26a5 |
A |
G |
5: 22,018,892 (GRCm39) |
V649A |
probably damaging |
Het |
Slco4c1 |
T |
C |
1: 96,765,323 (GRCm39) |
N376D |
possibly damaging |
Het |
Socs3 |
A |
T |
11: 117,858,553 (GRCm39) |
Y168* |
probably null |
Het |
Spata31d1d |
A |
T |
13: 59,876,394 (GRCm39) |
N380K |
possibly damaging |
Het |
Speer1c |
T |
C |
5: 10,295,237 (GRCm39) |
K56E |
probably damaging |
Het |
Ssbp3 |
A |
G |
4: 106,894,843 (GRCm39) |
N254S |
probably benign |
Het |
Stard10 |
C |
T |
7: 100,995,226 (GRCm39) |
S326L |
probably damaging |
Het |
Taf2 |
T |
C |
15: 54,912,135 (GRCm39) |
D524G |
possibly damaging |
Het |
Taf7 |
A |
T |
18: 37,776,053 (GRCm39) |
S171R |
probably damaging |
Het |
Tchh |
C |
T |
3: 93,353,478 (GRCm39) |
R973C |
unknown |
Het |
Tmem67 |
T |
C |
4: 12,077,337 (GRCm39) |
R172G |
possibly damaging |
Het |
Top2a |
C |
A |
11: 98,914,922 (GRCm39) |
|
probably benign |
Het |
Ttc8 |
T |
A |
12: 98,940,960 (GRCm39) |
N323K |
possibly damaging |
Het |
Txnl1 |
T |
C |
18: 63,804,667 (GRCm39) |
N276D |
probably benign |
Het |
Usp24 |
T |
G |
4: 106,219,878 (GRCm39) |
|
probably null |
Het |
Vmn1r18 |
A |
C |
6: 57,366,609 (GRCm39) |
|
probably null |
Het |
Vmn2r53 |
A |
T |
7: 12,315,628 (GRCm39) |
H730Q |
probably benign |
Het |
Wnk1 |
A |
C |
6: 119,947,939 (GRCm39) |
I500M |
probably damaging |
Het |
Zfp335 |
A |
T |
2: 164,744,423 (GRCm39) |
Y451N |
probably damaging |
Het |
Zfp683 |
T |
A |
4: 133,783,064 (GRCm39) |
I176N |
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 |
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 |
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'- GCTGATGTTGATTCACTGGAAG -3'
(R):5'- TGCCTGAGTGTTCTGAGACAC -3'
Sequencing Primer
(F):5'- AGATTACTTCCTCTCTCGAATAATGC -3'
(R):5'- AGTGTTCTGAGACACTGGATGAC -3'
|
Posted On |
2019-06-26 |