Incidental Mutation 'R4542:Nlrp4c'
| ID |
333573 |
| 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 |
041593-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R4542 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
6048160-6108148 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 6103826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 920
(W920*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037728]
[ENSMUST00000121583]
[ENSMUST00000208360]
|
| AlphaFold |
Q3TKR3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037728
AA Change: W920*
|
| SMART Domains |
Protein: ENSMUSP00000046503
Gene: ENSMUSG00000034690
AA Change: W920*
| 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: W920*
|
| SMART Domains |
Protein: ENSMUSP00000113824
Gene: ENSMUSG00000034690
AA Change: W920*
| 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: W920*
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,163,875 (GRCm39) |
L833Q |
probably damaging |
Het |
| Adcy6 |
C |
G |
15: 98,496,869 (GRCm39) |
V469L |
possibly damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Bean1 |
T |
A |
8: 104,937,591 (GRCm39) |
F57I |
probably damaging |
Het |
| Brinp1 |
T |
C |
4: 68,680,329 (GRCm39) |
I734V |
probably benign |
Het |
| Cab39l |
C |
A |
14: 59,734,351 (GRCm39) |
D23E |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,860,991 (GRCm39) |
T839A |
probably benign |
Het |
| Clgn |
A |
G |
8: 84,146,838 (GRCm39) |
E297G |
probably damaging |
Het |
| Crip1 |
A |
G |
12: 113,117,109 (GRCm39) |
Y108C |
probably damaging |
Het |
| Cxcr2 |
A |
G |
1: 74,197,688 (GRCm39) |
S61G |
probably benign |
Het |
| Dph5 |
T |
C |
3: 115,722,274 (GRCm39) |
S251P |
probably damaging |
Het |
| E2f7 |
T |
A |
10: 110,602,984 (GRCm39) |
V333E |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 137,930,728 (GRCm39) |
D918G |
probably damaging |
Het |
| Epn1 |
A |
G |
7: 5,096,980 (GRCm39) |
E254G |
possibly damaging |
Het |
| Fat1 |
T |
C |
8: 45,494,931 (GRCm39) |
C4065R |
probably damaging |
Het |
| Gja1 |
T |
C |
10: 56,264,148 (GRCm39) |
F169S |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,279,684 (GRCm39) |
I1384T |
probably damaging |
Het |
| Ltbp2 |
A |
T |
12: 84,878,593 (GRCm39) |
L302* |
probably null |
Het |
| Nalcn |
T |
C |
14: 123,558,889 (GRCm39) |
|
silent |
Het |
| Nlrp1b |
A |
C |
11: 71,119,151 (GRCm39) |
L48W |
probably damaging |
Het |
| Nr2f1 |
C |
T |
13: 78,337,940 (GRCm39) |
G235D |
probably damaging |
Het |
| Nt5dc2 |
T |
A |
14: 30,860,095 (GRCm39) |
D374E |
probably benign |
Het |
| Or2d3 |
GAACAACAACAA |
GAACAACAA |
7: 106,490,567 (GRCm39) |
|
probably benign |
Het |
| Or51e2 |
T |
C |
7: 102,391,850 (GRCm39) |
D120G |
probably damaging |
Het |
| Or5ak23 |
T |
C |
2: 85,244,287 (GRCm39) |
D312G |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,283,589 (GRCm39) |
I742T |
probably damaging |
Het |
| Rftn1 |
A |
G |
17: 50,362,259 (GRCm39) |
|
probably null |
Het |
| Rfx1 |
G |
A |
8: 84,816,866 (GRCm39) |
G466S |
probably damaging |
Het |
| Scn11a |
A |
T |
9: 119,584,200 (GRCm39) |
S1472T |
probably damaging |
Het |
| Sh2d4a |
A |
G |
8: 68,799,394 (GRCm39) |
Q421R |
probably benign |
Het |
| Slc25a10 |
G |
A |
11: 120,388,807 (GRCm39) |
|
probably null |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,204,097 (GRCm39) |
Y1510C |
unknown |
Het |
| Ssu72 |
A |
G |
4: 155,817,934 (GRCm39) |
Q163R |
probably benign |
Het |
| Stau1 |
A |
G |
2: 166,795,181 (GRCm39) |
Y223H |
probably damaging |
Het |
| Syne3 |
A |
T |
12: 104,935,503 (GRCm39) |
S92T |
probably benign |
Het |
| Ulbp1 |
T |
C |
10: 7,406,570 (GRCm39) |
D45G |
probably damaging |
Het |
| Ulk4 |
G |
A |
9: 121,092,704 (GRCm39) |
R178* |
probably null |
Het |
| Vmn1r67 |
A |
G |
7: 10,181,357 (GRCm39) |
Y207C |
probably damaging |
Het |
| Vmn2r59 |
T |
C |
7: 41,695,497 (GRCm39) |
D305G |
possibly damaging |
Het |
| Zbtb18 |
A |
G |
1: 177,276,232 (GRCm39) |
K522E |
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 |
|
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 |
|
|
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'- TTCACCACAGACATAGATATGGAG -3'
(R):5'- TAGCAGCACATTTCAGATCTCAG -3'
Sequencing Primer
(F):5'- TGAGCGATTGTGATCACACC -3'
(R):5'- AGCACATTTCAGATCTCAGTTTATCC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation