Incidental Mutation 'R7104:Nlrp4c'
ID |
551052 |
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 |
045196-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R7104 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
6048160-6108148 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 6068708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 203
(L203*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046503
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037728]
[ENSMUST00000121583]
[ENSMUST00000208360]
|
AlphaFold |
Q3TKR3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000037728
AA Change: L203*
|
SMART Domains |
Protein: ENSMUSP00000046503 Gene: ENSMUSG00000034690 AA Change: L203*
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 null
Transcript: ENSMUST00000121583
AA Change: L203*
|
SMART Domains |
Protein: ENSMUSP00000113824 Gene: ENSMUSG00000034690 AA Change: L203*
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 null
Transcript: ENSMUST00000208360
AA Change: L203*
|
Meta Mutation Damage Score |
0.9702 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl2 |
A |
G |
2: 90,627,891 (GRCm39) |
E232G |
probably damaging |
Het |
Atf7 |
A |
G |
15: 102,442,670 (GRCm39) |
S480P |
probably benign |
Het |
Cdk14 |
A |
G |
5: 5,245,325 (GRCm39) |
I166T |
possibly damaging |
Het |
Cdk5rap2 |
G |
T |
4: 70,267,393 (GRCm39) |
F358L |
probably benign |
Het |
Cplane1 |
T |
C |
15: 8,223,928 (GRCm39) |
L897P |
possibly damaging |
Het |
Cytip |
A |
G |
2: 58,049,986 (GRCm39) |
S28P |
probably benign |
Het |
Dennd5b |
C |
T |
6: 148,946,102 (GRCm39) |
R503Q |
probably damaging |
Het |
Dnajc10 |
T |
A |
2: 80,171,159 (GRCm39) |
C480S |
probably damaging |
Het |
Drc7 |
A |
G |
8: 95,785,711 (GRCm39) |
D189G |
probably damaging |
Het |
Engase |
G |
A |
11: 118,372,121 (GRCm39) |
V138M |
probably damaging |
Het |
Esyt3 |
C |
A |
9: 99,220,840 (GRCm39) |
R121L |
probably damaging |
Het |
Frem1 |
T |
G |
4: 82,858,918 (GRCm39) |
I1516L |
probably benign |
Het |
Gatad2b |
T |
A |
3: 90,258,724 (GRCm39) |
I249N |
probably damaging |
Het |
Grk6 |
T |
C |
13: 55,602,219 (GRCm39) |
S383P |
probably benign |
Het |
Hectd1 |
C |
T |
12: 51,874,134 (GRCm39) |
|
probably null |
Het |
Hipk2 |
A |
G |
6: 38,795,579 (GRCm39) |
L230P |
probably damaging |
Het |
Hivep1 |
A |
T |
13: 42,310,814 (GRCm39) |
Q1018L |
probably benign |
Het |
Itgad |
T |
C |
7: 127,797,550 (GRCm39) |
F927S |
probably benign |
Het |
Itgb3bp |
A |
G |
4: 99,702,335 (GRCm39) |
V3A |
probably damaging |
Het |
Kcnh7 |
G |
T |
2: 62,618,031 (GRCm39) |
A486D |
possibly damaging |
Het |
Krt1c |
T |
C |
15: 101,723,522 (GRCm39) |
T318A |
probably benign |
Het |
Ndrg1 |
A |
G |
15: 66,818,377 (GRCm39) |
F77S |
probably damaging |
Het |
Nos1 |
T |
A |
5: 118,085,496 (GRCm39) |
C1275S |
probably damaging |
Het |
Or14a256 |
T |
C |
7: 86,264,900 (GRCm39) |
S318G |
probably null |
Het |
Or4a69 |
A |
G |
2: 89,313,458 (GRCm39) |
V7A |
possibly damaging |
Het |
Or5an9 |
T |
C |
19: 12,187,242 (GRCm39) |
I104T |
possibly damaging |
Het |
Or5d39 |
T |
C |
2: 87,979,716 (GRCm39) |
T216A |
possibly damaging |
Het |
Or5j3 |
T |
A |
2: 86,128,564 (GRCm39) |
S135T |
probably benign |
Het |
Or8b12b |
A |
T |
9: 37,684,437 (GRCm39) |
N161Y |
possibly damaging |
Het |
Pip4k2b |
T |
C |
11: 97,623,542 (GRCm39) |
M67V |
possibly damaging |
Het |
Polq |
C |
A |
16: 36,909,715 (GRCm39) |
Y2366* |
probably null |
Het |
Prg3 |
T |
C |
2: 84,819,097 (GRCm39) |
S8P |
probably benign |
Het |
Prl7c1 |
A |
T |
13: 27,962,952 (GRCm39) |
L17* |
probably null |
Het |
Prl8a8 |
A |
T |
13: 27,695,479 (GRCm39) |
S51R |
probably damaging |
Het |
Pttg1 |
G |
C |
11: 43,311,976 (GRCm39) |
P160A |
probably benign |
Het |
Rbfox1 |
C |
A |
16: 7,170,867 (GRCm39) |
R276S |
possibly damaging |
Het |
Rnase2a |
T |
G |
14: 51,492,988 (GRCm39) |
M126L |
probably benign |
Het |
Secisbp2 |
A |
T |
13: 51,810,943 (GRCm39) |
K202* |
probably null |
Het |
Sema6c |
A |
G |
3: 95,076,156 (GRCm39) |
H236R |
possibly damaging |
Het |
Septin12 |
A |
G |
16: 4,809,857 (GRCm39) |
L181P |
probably damaging |
Het |
Shc3 |
A |
T |
13: 51,585,241 (GRCm39) |
V458D |
possibly damaging |
Het |
Tecta |
A |
G |
9: 42,278,239 (GRCm39) |
Y1090H |
probably benign |
Het |
Thsd7a |
A |
T |
6: 12,379,429 (GRCm39) |
N998K |
|
Het |
Tmem131l |
A |
T |
3: 83,826,766 (GRCm39) |
S1184T |
possibly damaging |
Het |
Tnfsf15 |
T |
C |
4: 63,647,887 (GRCm39) |
D251G |
probably damaging |
Het |
Ttyh3 |
T |
C |
5: 140,615,540 (GRCm39) |
E348G |
probably benign |
Het |
Unc5c |
T |
C |
3: 141,439,665 (GRCm39) |
L186P |
probably damaging |
Het |
Vmn2r37 |
A |
T |
7: 9,219,045 (GRCm39) |
N446K |
probably damaging |
Het |
Vmn2r63 |
T |
C |
7: 42,577,959 (GRCm39) |
D193G |
possibly damaging |
Het |
Vmn2r85 |
A |
T |
10: 130,262,376 (GRCm39) |
M121K |
probably benign |
Het |
Vmn2r88 |
A |
G |
14: 51,651,253 (GRCm39) |
D189G |
|
Het |
Vwc2l |
C |
A |
1: 70,768,252 (GRCm39) |
C105* |
probably null |
Het |
Wdr72 |
T |
A |
9: 74,055,597 (GRCm39) |
D275E |
probably damaging |
Het |
Zfhx4 |
A |
T |
3: 5,467,549 (GRCm39) |
D2594V |
probably damaging |
Het |
Zfp174 |
C |
T |
16: 3,672,269 (GRCm39) |
H273Y |
probably benign |
Het |
Zwilch |
A |
G |
9: 64,068,658 (GRCm39) |
S203P |
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 |
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 |
R7095:Nlrp4c
|
UTSW |
7 |
6,063,792 (GRCm39) |
missense |
probably damaging |
0.97 |
R7102: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'- CACATGGTGTTCCTGCAAGG -3'
(R):5'- CAAAAGTCTCTGGGGTAGCAG -3'
Sequencing Primer
(F):5'- GAGCAGCGGGAATTGGC -3'
(R):5'- AAGAGGATTTGGGGAGCATCTTCC -3'
|
Posted On |
2019-05-15 |