Incidental Mutation 'R1118:Nlrp9c'
ID |
97546 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrp9c
|
Ensembl Gene |
ENSMUSG00000040614 |
Gene Name |
NLR family, pyrin domain containing 9C |
Synonyms |
Nalp9c, Nalp-zeta |
MMRRC Submission |
039191-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1118 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
26064116-26103125 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 26083862 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 572
(D572E)
|
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: D572E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000036041 Gene: ENSMUSG00000040614 AA Change: D572E
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: D572E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000083106 Gene: ENSMUSG00000040614 AA Change: D572E
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.3%
|
Validation Efficiency |
98% (60/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apcdd1 |
A |
G |
18: 63,085,095 (GRCm39) |
T431A |
probably benign |
Het |
Bcan |
T |
A |
3: 87,896,534 (GRCm39) |
I721F |
probably damaging |
Het |
Card10 |
T |
C |
15: 78,686,643 (GRCm39) |
D58G |
possibly damaging |
Het |
Cd200r2 |
A |
G |
16: 44,729,969 (GRCm39) |
N171S |
probably damaging |
Het |
Celsr1 |
T |
C |
15: 85,916,248 (GRCm39) |
D575G |
probably damaging |
Het |
Ces1f |
A |
G |
8: 93,993,870 (GRCm39) |
|
probably benign |
Het |
Cped1 |
A |
T |
6: 22,237,698 (GRCm39) |
H938L |
probably benign |
Het |
Creld1 |
A |
G |
6: 113,468,656 (GRCm39) |
D259G |
probably benign |
Het |
Cubn |
T |
C |
2: 13,341,053 (GRCm39) |
I2223V |
possibly damaging |
Het |
Dop1a |
A |
G |
9: 86,397,459 (GRCm39) |
D921G |
probably damaging |
Het |
Dusp7 |
T |
C |
9: 106,250,849 (GRCm39) |
S325P |
possibly damaging |
Het |
Fat4 |
A |
T |
3: 39,037,091 (GRCm39) |
D3581V |
possibly damaging |
Het |
Fhl3 |
T |
C |
4: 124,599,584 (GRCm39) |
|
probably null |
Het |
Gap43 |
T |
C |
16: 42,112,167 (GRCm39) |
E198G |
probably benign |
Het |
Garin4 |
G |
A |
1: 190,896,682 (GRCm39) |
|
probably benign |
Het |
Grina |
T |
C |
15: 76,132,779 (GRCm39) |
F182S |
probably damaging |
Het |
Gsk3b |
T |
C |
16: 38,028,346 (GRCm39) |
|
probably benign |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Haus6 |
A |
G |
4: 86,503,563 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
C |
T |
1: 150,494,679 (GRCm39) |
A4137T |
possibly damaging |
Het |
Itih4 |
C |
A |
14: 30,618,124 (GRCm39) |
|
probably benign |
Het |
Itprid1 |
T |
C |
6: 55,866,155 (GRCm39) |
F183L |
probably damaging |
Het |
Kif22 |
A |
G |
7: 126,631,916 (GRCm39) |
S384P |
probably benign |
Het |
Lbr |
A |
C |
1: 181,648,233 (GRCm39) |
|
probably benign |
Het |
Mei1 |
G |
A |
15: 82,000,068 (GRCm39) |
|
probably benign |
Het |
Misp |
T |
C |
10: 79,662,969 (GRCm39) |
V462A |
probably benign |
Het |
Mrgpra3 |
A |
C |
7: 47,239,039 (GRCm39) |
L296V |
possibly damaging |
Het |
Ndufa9 |
A |
T |
6: 126,799,031 (GRCm39) |
L362Q |
probably damaging |
Het |
Or4f14 |
T |
A |
2: 111,743,222 (GRCm39) |
T18S |
probably benign |
Het |
Otud4 |
C |
T |
8: 80,379,980 (GRCm39) |
|
probably benign |
Het |
P4ha3 |
T |
C |
7: 99,962,535 (GRCm39) |
I431T |
probably damaging |
Het |
Pcdhb15 |
T |
A |
18: 37,606,815 (GRCm39) |
F16I |
probably benign |
Het |
Pcnp |
A |
G |
16: 55,844,754 (GRCm39) |
S49P |
probably damaging |
Het |
Pdxdc1 |
T |
A |
16: 13,697,278 (GRCm39) |
|
probably benign |
Het |
Pgc |
T |
A |
17: 48,039,828 (GRCm39) |
|
probably null |
Het |
Phf11a |
T |
C |
14: 59,521,778 (GRCm39) |
D131G |
probably benign |
Het |
Prdm2 |
G |
A |
4: 142,858,953 (GRCm39) |
H1446Y |
possibly damaging |
Het |
Rad54b |
T |
C |
4: 11,563,352 (GRCm39) |
S4P |
probably damaging |
Het |
Slc52a2 |
T |
C |
15: 76,423,808 (GRCm39) |
|
probably benign |
Het |
Slc9a4 |
G |
A |
1: 40,623,490 (GRCm39) |
|
probably benign |
Het |
Smad4 |
T |
C |
18: 73,773,333 (GRCm39) |
D551G |
probably benign |
Het |
Smg7 |
A |
T |
1: 152,742,326 (GRCm39) |
|
probably benign |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Sspo |
A |
G |
6: 48,436,352 (GRCm39) |
Y1234C |
probably damaging |
Het |
Stab2 |
A |
T |
10: 86,721,582 (GRCm39) |
|
probably null |
Het |
Stk36 |
A |
G |
1: 74,671,925 (GRCm39) |
E875G |
probably benign |
Het |
Stmn4 |
T |
G |
14: 66,591,844 (GRCm39) |
|
probably benign |
Het |
Tagln3 |
C |
A |
16: 45,544,635 (GRCm39) |
R12L |
probably damaging |
Het |
Tex14 |
A |
T |
11: 87,413,343 (GRCm39) |
R1031S |
probably benign |
Het |
Tia1 |
G |
A |
6: 86,396,091 (GRCm39) |
V96I |
probably benign |
Het |
Ticrr |
C |
T |
7: 79,343,701 (GRCm39) |
P1189S |
probably benign |
Het |
Tnxb |
G |
A |
17: 34,904,017 (GRCm39) |
V1053M |
probably damaging |
Het |
Tpp2 |
T |
C |
1: 44,031,556 (GRCm39) |
|
probably null |
Het |
Trpm7 |
A |
G |
2: 126,664,406 (GRCm39) |
M991T |
possibly damaging |
Het |
Ttc3 |
T |
A |
16: 94,217,127 (GRCm39) |
|
probably benign |
Het |
Vcan |
G |
A |
13: 89,853,782 (GRCm39) |
P393S |
probably damaging |
Het |
Vmn2r107 |
G |
A |
17: 20,576,860 (GRCm39) |
R286Q |
probably benign |
Het |
Wdr87-ps |
G |
A |
7: 29,233,669 (GRCm39) |
|
noncoding transcript |
Het |
Wrap73 |
A |
T |
4: 154,236,884 (GRCm39) |
|
probably null |
Het |
Zfp958 |
A |
T |
8: 4,676,169 (GRCm39) |
N46Y |
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 |
|
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 |
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'- CTGGCTTCATCATGAATTTGCATGGAC -3'
(R):5'- ACACTACAGTGGTACTTTGCTACCCTG -3'
Sequencing Primer
(F):5'- CATCATGAATTTGCATGGACACATC -3'
(R):5'- TATCACCCAGTTATTGGAAGCC -3'
|
Posted On |
2014-01-05 |