Incidental Mutation 'R6383:Nlrp4c'
| ID |
515436 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp4c
|
| Ensembl Gene |
ENSMUSG00000034690 |
| Gene Name |
NLR family, pyrin domain containing 4C |
| Synonyms |
Nalp4c, Nalp-alpha, Rnh2 |
| MMRRC Submission |
044532-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R6383 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
6048160-6108148 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6069052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 318
(T318A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037728]
[ENSMUST00000121583]
[ENSMUST00000208360]
|
| AlphaFold |
Q3TKR3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037728
AA Change: T318A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046503
Gene: ENSMUSG00000034690
AA Change: T318A
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
89 |
1.41e-34 |
SMART |
|
Pfam:NACHT
|
148 |
317 |
4.5e-40 |
PFAM |
|
LRR
|
689 |
716 |
2.91e0 |
SMART |
|
LRR
|
718 |
745 |
1.49e1 |
SMART |
|
LRR
|
746 |
772 |
2.5e1 |
SMART |
|
LRR
|
774 |
801 |
6.24e1 |
SMART |
|
LRR
|
802 |
829 |
3.07e-1 |
SMART |
|
LRR
|
831 |
858 |
4.11e-1 |
SMART |
|
LRR
|
859 |
886 |
3.31e-6 |
SMART |
|
LRR
|
888 |
915 |
6.16e0 |
SMART |
|
LRR
|
916 |
943 |
9.24e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121583
AA Change: T318A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113824
Gene: ENSMUSG00000034690
AA Change: T318A
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
89 |
1.41e-34 |
SMART |
|
Pfam:NACHT
|
148 |
317 |
1.7e-39 |
PFAM |
|
LRR
|
689 |
716 |
2.91e0 |
SMART |
|
LRR
|
718 |
745 |
1.49e1 |
SMART |
|
LRR
|
746 |
772 |
2.5e1 |
SMART |
|
LRR
|
774 |
801 |
6.24e1 |
SMART |
|
LRR
|
802 |
829 |
3.07e-1 |
SMART |
|
LRR
|
831 |
858 |
4.11e-1 |
SMART |
|
LRR
|
859 |
886 |
3.31e-6 |
SMART |
|
LRR
|
888 |
915 |
6.16e0 |
SMART |
|
LRR
|
916 |
943 |
9.24e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207267
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208360
AA Change: T318A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
97% (73/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,286,343 (GRCm39) |
M2497K |
probably benign |
Het |
| Abtb2 |
C |
T |
2: 103,397,721 (GRCm39) |
T217I |
probably damaging |
Het |
| Adam29 |
T |
A |
8: 56,324,543 (GRCm39) |
N637I |
probably damaging |
Het |
| Adgb |
T |
A |
10: 10,325,772 (GRCm39) |
E59V |
probably damaging |
Het |
| Adh7 |
C |
T |
3: 137,933,778 (GRCm39) |
R312C |
probably benign |
Het |
| Adprh |
A |
G |
16: 38,267,814 (GRCm39) |
I157T |
probably damaging |
Het |
| Ap2b1 |
T |
C |
11: 83,237,651 (GRCm39) |
S572P |
probably damaging |
Het |
| Asic1 |
T |
C |
15: 99,596,761 (GRCm39) |
L519P |
probably damaging |
Het |
| Atp2a2 |
G |
C |
5: 122,639,712 (GRCm39) |
L13V |
probably benign |
Het |
| Bst2 |
A |
T |
8: 71,989,932 (GRCm39) |
I47N |
possibly damaging |
Het |
| Cacng6 |
G |
A |
7: 3,473,509 (GRCm39) |
|
probably null |
Het |
| Cenpe |
A |
G |
3: 134,957,289 (GRCm39) |
E1849G |
probably damaging |
Het |
| Cep295 |
T |
A |
9: 15,244,050 (GRCm39) |
T213S |
probably damaging |
Het |
| Chia1 |
A |
G |
3: 106,039,127 (GRCm39) |
T406A |
probably benign |
Het |
| Chmp4c |
G |
T |
3: 10,432,277 (GRCm39) |
K62N |
probably damaging |
Het |
| Cldn15 |
A |
G |
5: 136,996,979 (GRCm39) |
T7A |
probably benign |
Het |
| Cmpk2 |
T |
A |
12: 26,528,019 (GRCm39) |
M412K |
probably benign |
Het |
| Cnnm1 |
T |
C |
19: 43,453,705 (GRCm39) |
|
probably null |
Het |
| Cubn |
A |
C |
2: 13,432,646 (GRCm39) |
|
probably null |
Het |
| Dop1b |
T |
C |
16: 93,579,136 (GRCm39) |
V1668A |
possibly damaging |
Het |
| Erg28 |
T |
A |
12: 85,863,203 (GRCm39) |
Y77F |
probably damaging |
Het |
| F830045P16Rik |
C |
T |
2: 129,378,358 (GRCm39) |
A9T |
probably benign |
Het |
| Gli3 |
A |
G |
13: 15,898,140 (GRCm39) |
D740G |
probably damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Gpat3 |
A |
T |
5: 101,041,010 (GRCm39) |
M357L |
probably benign |
Het |
| Gpr179 |
A |
G |
11: 97,227,973 (GRCm39) |
V1394A |
possibly damaging |
Het |
| Grn |
T |
A |
11: 102,327,621 (GRCm39) |
|
probably benign |
Het |
| H2-Q6 |
G |
A |
17: 35,647,359 (GRCm39) |
|
probably null |
Het |
| Igsf3 |
A |
G |
3: 101,342,964 (GRCm39) |
T514A |
probably benign |
Het |
| Il1r1 |
A |
G |
1: 40,352,495 (GRCm39) |
D558G |
possibly damaging |
Het |
| Irx4 |
T |
C |
13: 73,415,832 (GRCm39) |
M207T |
possibly damaging |
Het |
| Kap |
T |
C |
6: 133,828,920 (GRCm39) |
I54V |
probably benign |
Het |
| Kdm2b |
G |
A |
5: 123,072,841 (GRCm39) |
R340C |
probably damaging |
Het |
| Lipo3 |
T |
A |
19: 33,533,831 (GRCm39) |
M334L |
probably benign |
Het |
| Lmbrd1 |
C |
T |
1: 24,745,115 (GRCm39) |
L152F |
probably damaging |
Het |
| Ltbp1 |
G |
A |
17: 75,666,452 (GRCm39) |
V1382I |
probably damaging |
Het |
| Map3k4 |
C |
T |
17: 12,468,470 (GRCm39) |
D1008N |
possibly damaging |
Het |
| Mcf2l |
T |
C |
8: 12,929,912 (GRCm39) |
|
probably benign |
Het |
| Mecom |
T |
G |
3: 30,051,875 (GRCm39) |
D180A |
probably damaging |
Het |
| Meis1 |
T |
C |
11: 18,891,741 (GRCm39) |
D269G |
probably benign |
Het |
| Myh7 |
A |
C |
14: 55,226,351 (GRCm39) |
S430A |
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,474,325 (GRCm39) |
I439V |
probably damaging |
Het |
| Nat1 |
T |
C |
8: 67,944,134 (GRCm39) |
V170A |
possibly damaging |
Het |
| Nlrp12 |
A |
G |
7: 3,282,673 (GRCm39) |
L742P |
probably damaging |
Het |
| Or4d10 |
T |
A |
19: 12,051,727 (GRCm39) |
I90F |
probably damaging |
Het |
| Or4k47 |
T |
A |
2: 111,451,531 (GRCm39) |
N296I |
probably benign |
Het |
| Or51ai2 |
A |
G |
7: 103,587,030 (GRCm39) |
I148V |
probably benign |
Het |
| Or8g33 |
G |
T |
9: 39,337,530 (GRCm39) |
T279N |
probably damaging |
Het |
| Or8g35 |
A |
T |
9: 39,381,926 (GRCm39) |
L32Q |
probably damaging |
Het |
| Otop3 |
A |
G |
11: 115,235,898 (GRCm39) |
E529G |
probably damaging |
Het |
| Parp6 |
T |
C |
9: 59,531,222 (GRCm39) |
Y35H |
probably damaging |
Het |
| Pcdhb4 |
A |
C |
18: 37,441,074 (GRCm39) |
D128A |
probably damaging |
Het |
| Phldb2 |
C |
T |
16: 45,569,113 (GRCm39) |
D1249N |
probably damaging |
Het |
| Pramel30 |
A |
T |
4: 144,059,717 (GRCm39) |
*476L |
probably null |
Het |
| Ptpn12 |
T |
A |
5: 21,192,466 (GRCm39) |
K765* |
probably null |
Het |
| Ptprb |
T |
A |
10: 116,182,912 (GRCm39) |
Y1529* |
probably null |
Het |
| Ptprc |
A |
T |
1: 138,006,189 (GRCm39) |
Y798N |
possibly damaging |
Het |
| Sdk2 |
G |
A |
11: 113,723,091 (GRCm39) |
T1300I |
probably damaging |
Het |
| Slc28a2b |
T |
C |
2: 122,355,288 (GRCm39) |
I555T |
probably benign |
Het |
| Sptbn2 |
G |
A |
19: 4,782,524 (GRCm39) |
V487I |
possibly damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,876,750 (GRCm39) |
|
probably benign |
Het |
| Srpk1 |
A |
G |
17: 28,809,036 (GRCm39) |
S648P |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,496,888 (GRCm39) |
|
probably null |
Het |
| Tmem135 |
A |
T |
7: 88,793,878 (GRCm39) |
I388N |
probably damaging |
Het |
| Top3a |
A |
T |
11: 60,640,285 (GRCm39) |
I446N |
probably benign |
Het |
| Trpv1 |
T |
C |
11: 73,136,862 (GRCm39) |
S482P |
probably damaging |
Het |
| Ugt3a1 |
C |
T |
15: 9,306,541 (GRCm39) |
A230V |
probably benign |
Het |
| Vmn2r15 |
A |
C |
5: 109,441,092 (GRCm39) |
Y255* |
probably null |
Het |
| Vmn2r60 |
A |
G |
7: 41,765,895 (GRCm39) |
M1V |
probably null |
Het |
| Vmn2r87 |
A |
G |
10: 130,314,869 (GRCm39) |
V239A |
probably damaging |
Het |
| Vwce |
T |
A |
19: 10,636,956 (GRCm39) |
C679* |
probably null |
Het |
| Zfp385b |
C |
T |
2: 77,246,185 (GRCm39) |
A281T |
probably benign |
Het |
| Zfp398 |
T |
G |
6: 47,843,529 (GRCm39) |
L395W |
probably damaging |
Het |
| Zfp442 |
C |
T |
2: 150,293,321 (GRCm39) |
|
probably null |
Het |
| Zfp606 |
A |
G |
7: 12,226,871 (GRCm39) |
S331G |
probably benign |
Het |
| Zfp882 |
A |
G |
8: 72,668,484 (GRCm39) |
H437R |
probably damaging |
Het |
|
| Other mutations in Nlrp4c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00727:Nlrp4c
|
APN |
7 |
6,069,701 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01458:Nlrp4c
|
APN |
7 |
6,103,783 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01464:Nlrp4c
|
APN |
7 |
6,103,783 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01470:Nlrp4c
|
APN |
7 |
6,103,783 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01481:Nlrp4c
|
APN |
7 |
6,103,783 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01531:Nlrp4c
|
APN |
7 |
6,063,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01595:Nlrp4c
|
APN |
7 |
6,069,111 (GRCm39) |
nonsense |
probably null |
|
|
IGL02087:Nlrp4c
|
APN |
7 |
6,095,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02226:Nlrp4c
|
APN |
7 |
6,069,828 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02588:Nlrp4c
|
APN |
7 |
6,087,647 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02822:Nlrp4c
|
APN |
7 |
6,068,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02884:Nlrp4c
|
APN |
7 |
6,101,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02943:Nlrp4c
|
APN |
7 |
6,068,974 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03017:Nlrp4c
|
APN |
7 |
6,087,679 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0347:Nlrp4c
|
UTSW |
7 |
6,069,415 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0579:Nlrp4c
|
UTSW |
7 |
6,063,844 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1051:Nlrp4c
|
UTSW |
7 |
6,068,942 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1596:Nlrp4c
|
UTSW |
7 |
6,069,777 (GRCm39) |
missense |
probably benign |
|
|
R1636:Nlrp4c
|
UTSW |
7 |
6,069,737 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1739:Nlrp4c
|
UTSW |
7 |
6,076,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1766:Nlrp4c
|
UTSW |
7 |
6,076,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1824:Nlrp4c
|
UTSW |
7 |
6,069,955 (GRCm39) |
splice site |
probably null |
|
|
R1827:Nlrp4c
|
UTSW |
7 |
6,068,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Nlrp4c
|
UTSW |
7 |
6,087,655 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1902:Nlrp4c
|
UTSW |
7 |
6,068,818 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2217:Nlrp4c
|
UTSW |
7 |
6,076,113 (GRCm39) |
missense |
probably benign |
|
|
R2415:Nlrp4c
|
UTSW |
7 |
6,069,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3004:Nlrp4c
|
UTSW |
7 |
6,068,524 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3005:Nlrp4c
|
UTSW |
7 |
6,068,524 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3410:Nlrp4c
|
UTSW |
7 |
6,095,569 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3411:Nlrp4c
|
UTSW |
7 |
6,095,569 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3710:Nlrp4c
|
UTSW |
7 |
6,068,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4072:Nlrp4c
|
UTSW |
7 |
6,075,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4073:Nlrp4c
|
UTSW |
7 |
6,075,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4075:Nlrp4c
|
UTSW |
7 |
6,075,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4076:Nlrp4c
|
UTSW |
7 |
6,075,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4542:Nlrp4c
|
UTSW |
7 |
6,103,826 (GRCm39) |
nonsense |
probably null |
|
|
R4709:Nlrp4c
|
UTSW |
7 |
6,068,424 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4776:Nlrp4c
|
UTSW |
7 |
6,069,125 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5043:Nlrp4c
|
UTSW |
7 |
6,069,824 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5258:Nlrp4c
|
UTSW |
7 |
6,069,622 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6164:Nlrp4c
|
UTSW |
7 |
6,095,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6650:Nlrp4c
|
UTSW |
7 |
6,068,948 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6810:Nlrp4c
|
UTSW |
7 |
6,069,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7095:Nlrp4c
|
UTSW |
7 |
6,063,792 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7102:Nlrp4c
|
UTSW |
7 |
6,068,708 (GRCm39) |
nonsense |
probably null |
|
|
R7104:Nlrp4c
|
UTSW |
7 |
6,068,708 (GRCm39) |
nonsense |
probably null |
|
|
R7232:Nlrp4c
|
UTSW |
7 |
6,068,708 (GRCm39) |
nonsense |
probably null |
|
|
R7444:Nlrp4c
|
UTSW |
7 |
6,095,595 (GRCm39) |
nonsense |
probably null |
|
|
R7705:Nlrp4c
|
UTSW |
7 |
6,075,635 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7966:Nlrp4c
|
UTSW |
7 |
6,069,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8506:Nlrp4c
|
UTSW |
7 |
6,103,775 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8677:Nlrp4c
|
UTSW |
7 |
6,075,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8708:Nlrp4c
|
UTSW |
7 |
6,068,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8838:Nlrp4c
|
UTSW |
7 |
6,069,337 (GRCm39) |
missense |
|
|
|
R9031:Nlrp4c
|
UTSW |
7 |
6,107,608 (GRCm39) |
makesense |
probably null |
|
|
R9193:Nlrp4c
|
UTSW |
7 |
6,095,621 (GRCm39) |
missense |
probably benign |
|
|
R9329:Nlrp4c
|
UTSW |
7 |
6,068,498 (GRCm39) |
missense |
probably benign |
|
|
R9388:Nlrp4c
|
UTSW |
7 |
6,069,874 (GRCm39) |
nonsense |
probably null |
|
|
R9474:Nlrp4c
|
UTSW |
7 |
6,068,626 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9567:Nlrp4c
|
UTSW |
7 |
6,063,624 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9702:Nlrp4c
|
UTSW |
7 |
6,068,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0060:Nlrp4c
|
UTSW |
7 |
6,068,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Nlrp4c
|
UTSW |
7 |
6,069,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATACCTGCACGGAGAAGC -3'
(R):5'- GCACTTTGGGGAATGAACAAATTG -3'
Sequencing Primer
(F):5'- AGTGCGTATCCTGCTGAGC -3'
(R):5'- ACAAATTGAAGATGTGAGTGGTATAC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation