Incidental Mutation 'R7095:Nlrp4c'
ID |
550414 |
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 |
045243-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R7095 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
6048160-6108148 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 6063792 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 67
(A67T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046503
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037728]
[ENSMUST00000121583]
[ENSMUST00000208360]
|
AlphaFold |
Q3TKR3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037728
AA Change: A67T
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000046503 Gene: ENSMUSG00000034690 AA Change: A67T
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 damaging
Transcript: ENSMUST00000121583
AA Change: A67T
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000113824 Gene: ENSMUSG00000034690 AA Change: A67T
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 |
probably damaging
Transcript: ENSMUST00000208360
AA Change: A67T
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
99% (71/72) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
A |
G |
17: 36,268,403 (GRCm39) |
V809A |
possibly damaging |
Het |
Adam32 |
T |
A |
8: 25,404,086 (GRCm39) |
D242V |
probably damaging |
Het |
Adamts9 |
T |
A |
6: 92,864,672 (GRCm39) |
H763L |
probably benign |
Het |
Aff1 |
A |
G |
5: 103,990,951 (GRCm39) |
D967G |
probably damaging |
Het |
Anpep |
A |
T |
7: 79,491,950 (GRCm39) |
L17Q |
possibly damaging |
Het |
Appbp2 |
G |
T |
11: 85,125,553 (GRCm39) |
S28* |
probably null |
Het |
Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
Bod1l |
A |
G |
5: 41,952,411 (GRCm39) |
|
probably null |
Het |
Capn5 |
G |
A |
7: 97,775,038 (GRCm39) |
T534I |
probably benign |
Het |
Cbx2 |
T |
C |
11: 118,918,885 (GRCm39) |
I150T |
probably damaging |
Het |
Cdh11 |
A |
G |
8: 103,384,899 (GRCm39) |
V392A |
probably damaging |
Het |
Cenpf |
A |
T |
1: 189,391,373 (GRCm39) |
C803S |
probably benign |
Het |
Cep135 |
A |
G |
5: 76,741,905 (GRCm39) |
T114A |
probably benign |
Het |
Chd2 |
A |
T |
7: 73,121,629 (GRCm39) |
D994E |
probably damaging |
Het |
Chtf18 |
C |
A |
17: 25,941,652 (GRCm39) |
W584C |
probably damaging |
Het |
Dclk2 |
C |
T |
3: 86,700,566 (GRCm39) |
R638H |
probably damaging |
Het |
Dgkh |
C |
A |
14: 78,865,224 (GRCm39) |
M172I |
probably benign |
Het |
Dpy19l2 |
T |
G |
9: 24,607,110 (GRCm39) |
H117P |
probably benign |
Het |
Dzip3 |
A |
T |
16: 48,748,153 (GRCm39) |
N908K |
probably benign |
Het |
Erc2 |
A |
T |
14: 27,620,550 (GRCm39) |
N393Y |
probably damaging |
Het |
Fam118b |
T |
C |
9: 35,132,786 (GRCm39) |
E291G |
possibly damaging |
Het |
Fam193a |
C |
T |
5: 34,615,378 (GRCm39) |
L816F |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,202,157 (GRCm39) |
Y306H |
probably damaging |
Het |
Fndc10 |
C |
T |
4: 155,779,574 (GRCm39) |
T206I |
probably damaging |
Het |
Fzd1 |
GGGACTCCTCCACCTCCCTGGA |
GGGA |
5: 4,805,824 (GRCm39) |
|
probably benign |
Het |
Gsk3a |
A |
T |
7: 24,933,279 (GRCm39) |
Y177N |
probably damaging |
Het |
Haus5 |
T |
C |
7: 30,358,997 (GRCm39) |
T222A |
probably benign |
Het |
Igfbp7 |
G |
T |
5: 77,549,337 (GRCm39) |
Q189K |
probably benign |
Het |
Inppl1 |
A |
T |
7: 101,476,663 (GRCm39) |
Y771* |
probably null |
Het |
Iqck |
A |
T |
7: 118,514,814 (GRCm39) |
Y234F |
probably damaging |
Het |
Irs1 |
G |
T |
1: 82,267,819 (GRCm39) |
C132* |
probably null |
Het |
Jmjd1c |
T |
G |
10: 67,055,411 (GRCm39) |
V277G |
probably benign |
Het |
Klhl22 |
G |
A |
16: 17,610,614 (GRCm39) |
V622M |
probably damaging |
Het |
Kri1 |
C |
T |
9: 21,190,728 (GRCm39) |
E378K |
|
Het |
Lilra6 |
C |
T |
7: 3,916,196 (GRCm39) |
G221D |
probably damaging |
Het |
Mecom |
T |
C |
3: 30,035,103 (GRCm39) |
E191G |
probably damaging |
Het |
Mgrn1 |
T |
A |
16: 4,745,528 (GRCm39) |
|
probably null |
Het |
Mical1 |
C |
T |
10: 41,355,206 (GRCm39) |
|
probably null |
Het |
Mlxipl |
T |
C |
5: 135,162,884 (GRCm39) |
Y711H |
possibly damaging |
Het |
Mpl |
T |
A |
4: 118,301,260 (GRCm39) |
H535L |
|
Het |
Mtarc1 |
A |
G |
1: 184,527,437 (GRCm39) |
L297P |
probably damaging |
Het |
Mtfr2 |
C |
A |
10: 20,228,666 (GRCm39) |
H71N |
probably benign |
Het |
Mtrf1 |
GCCTTC |
GC |
14: 79,660,931 (GRCm39) |
|
probably null |
Het |
Myh15 |
A |
G |
16: 48,992,272 (GRCm39) |
Q1582R |
possibly damaging |
Het |
Neb |
C |
T |
2: 52,067,635 (GRCm39) |
E6062K |
possibly damaging |
Het |
Noc3l |
T |
A |
19: 38,800,789 (GRCm39) |
H231L |
probably benign |
Het |
Odf1 |
T |
C |
15: 38,219,803 (GRCm39) |
Y44H |
possibly damaging |
Het |
Or52e2 |
G |
A |
7: 102,804,537 (GRCm39) |
T139I |
probably damaging |
Het |
Or52s1b |
C |
T |
7: 102,822,253 (GRCm39) |
R197H |
probably benign |
Het |
Or5j3 |
C |
T |
2: 86,129,021 (GRCm39) |
P287L |
probably benign |
Het |
Otol1 |
G |
T |
3: 69,926,027 (GRCm39) |
E67D |
probably benign |
Het |
Otud7b |
A |
G |
3: 96,062,554 (GRCm39) |
S598G |
probably benign |
Het |
Ppwd1 |
T |
A |
13: 104,342,134 (GRCm39) |
T607S |
probably benign |
Het |
Prag1 |
A |
G |
8: 36,569,714 (GRCm39) |
N99S |
probably benign |
Het |
Ralgds |
C |
A |
2: 28,439,320 (GRCm39) |
Q737K |
possibly damaging |
Het |
Scyl2 |
T |
C |
10: 89,505,549 (GRCm39) |
H98R |
probably damaging |
Het |
Secisbp2 |
A |
C |
13: 51,831,290 (GRCm39) |
Q575H |
probably benign |
Het |
Slc9a5 |
A |
T |
8: 106,084,268 (GRCm39) |
H497L |
probably benign |
Het |
Sufu |
T |
A |
19: 46,464,027 (GRCm39) |
V414E |
probably damaging |
Het |
Tbc1d22b |
A |
T |
17: 29,818,843 (GRCm39) |
E399V |
probably damaging |
Het |
Tcp10c |
G |
A |
17: 13,576,196 (GRCm39) |
V59I |
probably benign |
Het |
Tdpoz3 |
T |
C |
3: 93,734,368 (GRCm39) |
S348P |
probably benign |
Het |
Tmem219 |
A |
T |
7: 126,490,928 (GRCm39) |
F176L |
probably damaging |
Het |
Trav6-2 |
A |
G |
14: 52,905,291 (GRCm39) |
D104G |
probably damaging |
Het |
Uba7 |
A |
G |
9: 107,860,538 (GRCm39) |
K927R |
probably benign |
Het |
Vps54 |
T |
G |
11: 21,221,720 (GRCm39) |
D158E |
probably benign |
Het |
Xpnpep1 |
C |
T |
19: 53,000,196 (GRCm39) |
|
probably null |
Het |
Xpo7 |
G |
A |
14: 70,942,146 (GRCm39) |
R73W |
probably damaging |
Het |
Zfp532 |
A |
T |
18: 65,815,969 (GRCm39) |
M781L |
probably benign |
Het |
Zfp930 |
T |
A |
8: 69,681,193 (GRCm39) |
I295K |
probably benign |
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 |
R6383:Nlrp4c
|
UTSW |
7 |
6,069,052 (GRCm39) |
missense |
probably benign |
|
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 |
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'- CTCTCTTCCTTAAGACACAATGGC -3'
(R):5'- GCGGAAGAATATCCCATGACAC -3'
Sequencing Primer
(F):5'- CTGATTTTGGCCTTATGTGGTAC -3'
(R):5'- ACCCAATGGCCCTAGGGTAG -3'
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Posted On |
2019-05-15 |