Incidental Mutation 'R9329:Nlrp4c'
| ID |
706718 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R9329 (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 6068498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 133
(R133H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037728]
[ENSMUST00000121583]
[ENSMUST00000208360]
|
| AlphaFold |
Q3TKR3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037728
AA Change: R133H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046503
Gene: ENSMUSG00000034690
AA Change: R133H
| 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: R133H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113824
Gene: ENSMUSG00000034690
AA Change: R133H
| 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 benign
Transcript: ENSMUST00000208360
AA Change: R133H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
99% (73/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
T |
G |
6: 83,133,556 (GRCm39) |
M1R |
probably null |
Het |
| Acap2 |
T |
C |
16: 30,946,238 (GRCm39) |
D235G |
probably damaging |
Het |
| Adgrv1 |
C |
A |
13: 81,647,241 (GRCm39) |
V3100F |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,288,686 (GRCm39) |
T401A |
probably damaging |
Het |
| Apcs |
T |
C |
1: 172,722,391 (GRCm39) |
T22A |
probably benign |
Het |
| Atf7ip2 |
T |
C |
16: 10,059,738 (GRCm39) |
V426A |
possibly damaging |
Het |
| Bach2 |
A |
G |
4: 32,562,175 (GRCm39) |
D214G |
possibly damaging |
Het |
| Baz2a |
C |
T |
10: 127,960,925 (GRCm39) |
A1578V |
possibly damaging |
Het |
| Camk1d |
T |
C |
2: 5,449,954 (GRCm39) |
I76V |
probably benign |
Het |
| Ccdc182 |
A |
T |
11: 88,185,324 (GRCm39) |
M135L |
probably benign |
Het |
| Cd47 |
C |
T |
16: 49,716,731 (GRCm39) |
T201I |
|
Het |
| Chodl |
T |
C |
16: 78,746,030 (GRCm39) |
S290P |
possibly damaging |
Het |
| Chst15 |
A |
G |
7: 131,868,520 (GRCm39) |
L300P |
possibly damaging |
Het |
| Ciita |
T |
C |
16: 10,324,571 (GRCm39) |
S168P |
probably damaging |
Het |
| Cntn2 |
C |
T |
1: 132,456,678 (GRCm39) |
V123I |
probably benign |
Het |
| Cyld |
T |
A |
8: 89,457,348 (GRCm39) |
L527Q |
probably benign |
Het |
| Dbn1 |
T |
A |
13: 55,631,241 (GRCm39) |
Y34F |
probably damaging |
Het |
| Enc1 |
C |
A |
13: 97,383,018 (GRCm39) |
Y509* |
probably null |
Het |
| Ermard |
A |
T |
17: 15,273,643 (GRCm39) |
E409D |
probably benign |
Het |
| Extl3 |
T |
C |
14: 65,314,765 (GRCm39) |
E139G |
possibly damaging |
Het |
| Fa2h |
A |
T |
8: 112,082,115 (GRCm39) |
V177E |
possibly damaging |
Het |
| Flot2 |
T |
C |
11: 77,949,772 (GRCm39) |
I367T |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,884,813 (GRCm39) |
Y2564H |
probably damaging |
Het |
| Fxyd3 |
A |
G |
7: 30,773,018 (GRCm39) |
V10A |
probably benign |
Het |
| Gfra3 |
A |
G |
18: 34,837,560 (GRCm39) |
L146P |
probably damaging |
Het |
| Gm49359 |
T |
C |
13: 62,602,448 (GRCm39) |
N251D |
probably benign |
Het |
| Hps6 |
A |
G |
19: 45,992,542 (GRCm39) |
S160G |
probably benign |
Het |
| Hsd17b7 |
C |
A |
1: 169,794,875 (GRCm39) |
A55S |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,789,298 (GRCm39) |
D446G |
probably benign |
Het |
| Htt |
G |
A |
5: 34,989,957 (GRCm39) |
R1163Q |
possibly damaging |
Het |
| Ift81 |
T |
C |
5: 122,697,833 (GRCm39) |
|
probably null |
Het |
| Ighv5-15 |
T |
G |
12: 113,790,395 (GRCm39) |
Y75S |
probably benign |
Het |
| Kcnd2 |
T |
A |
6: 21,725,981 (GRCm39) |
H491Q |
probably damaging |
Het |
| Lamb3 |
C |
A |
1: 193,014,665 (GRCm39) |
T608K |
probably benign |
Het |
| Lrtm2 |
T |
A |
6: 119,297,412 (GRCm39) |
K210* |
probably null |
Het |
| Med13 |
G |
T |
11: 86,189,283 (GRCm39) |
P1209T |
probably benign |
Het |
| Mtus1 |
G |
A |
8: 41,537,239 (GRCm39) |
T159I |
probably damaging |
Het |
| Myt1l |
A |
G |
12: 29,901,659 (GRCm39) |
M805V |
unknown |
Het |
| Neb |
G |
T |
2: 52,160,231 (GRCm39) |
L2261I |
probably benign |
Het |
| Nol11 |
A |
T |
11: 107,071,765 (GRCm39) |
L276Q |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,350,277 (GRCm39) |
Y614H |
probably damaging |
Het |
| Or13c9 |
G |
A |
4: 52,936,211 (GRCm39) |
T24M |
probably damaging |
Het |
| Or52p1 |
A |
G |
7: 104,267,705 (GRCm39) |
H273R |
probably damaging |
Het |
| Pou2f3 |
A |
G |
9: 43,040,224 (GRCm39) |
S355P |
probably damaging |
Het |
| Ppm1l |
C |
A |
3: 69,460,453 (GRCm39) |
N343K |
probably damaging |
Het |
| Prh1 |
A |
T |
6: 132,548,573 (GRCm39) |
I27F |
unknown |
Het |
| Prkrip1 |
A |
T |
5: 136,223,203 (GRCm39) |
L85Q |
probably damaging |
Het |
| Pycr3 |
C |
T |
15: 75,790,563 (GRCm39) |
V99I |
probably benign |
Het |
| R3hdm4 |
T |
A |
10: 79,749,393 (GRCm39) |
N72I |
probably damaging |
Het |
| Rab11fip3 |
G |
T |
17: 26,231,032 (GRCm39) |
H738N |
probably benign |
Het |
| Rtl1 |
G |
A |
12: 109,556,673 (GRCm39) |
A1722V |
possibly damaging |
Het |
| Sell |
A |
G |
1: 163,893,122 (GRCm39) |
N113D |
probably damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,665,697 (GRCm39) |
S732P |
probably damaging |
Het |
| Smurf2 |
A |
T |
11: 106,743,424 (GRCm39) |
D207E |
probably benign |
Het |
| Spata31h1 |
G |
A |
10: 82,121,439 (GRCm39) |
S3857L |
probably benign |
Het |
| Tat |
C |
T |
8: 110,723,510 (GRCm39) |
R333C |
probably benign |
Het |
| Tmem121b |
A |
T |
6: 120,469,234 (GRCm39) |
F494L |
probably damaging |
Het |
| Tmem198 |
C |
A |
1: 75,456,522 (GRCm39) |
P89Q |
probably damaging |
Het |
| Tnks2 |
T |
G |
19: 36,835,284 (GRCm39) |
C2G |
probably damaging |
Het |
| Trappc9 |
T |
C |
15: 72,673,202 (GRCm39) |
E869G |
unknown |
Het |
| Trim42 |
T |
A |
9: 97,251,584 (GRCm39) |
K105M |
probably benign |
Het |
| Ttll3 |
T |
C |
6: 113,369,635 (GRCm39) |
S60P |
probably benign |
Het |
| Ttll4 |
T |
A |
1: 74,725,121 (GRCm39) |
I625N |
possibly damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,479,181 (GRCm39) |
|
probably null |
Het |
| Txlnb |
A |
T |
10: 17,682,594 (GRCm39) |
Y172F |
probably damaging |
Het |
| Ube2e3 |
A |
T |
2: 78,744,035 (GRCm39) |
D88V |
possibly damaging |
Het |
| Vmn1r189 |
T |
A |
13: 22,286,430 (GRCm39) |
I136L |
probably benign |
Het |
| Vmn2r71 |
A |
G |
7: 85,267,950 (GRCm39) |
I135V |
probably benign |
Het |
| Vmn2r73 |
T |
A |
7: 85,519,073 (GRCm39) |
R516S |
probably benign |
Het |
| Wrn |
C |
T |
8: 33,731,006 (GRCm39) |
E1352K |
probably benign |
Het |
| Zfp318 |
T |
C |
17: 46,722,139 (GRCm39) |
S1381P |
probably damaging |
Het |
| Zfp747 |
A |
T |
7: 126,973,655 (GRCm39) |
Y172N |
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 |
|
|
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 |
|
|
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'- TAGGTCAGACTATGTGGATGAATG -3'
(R):5'- AATTCTGCCAGGCTTGCTC -3'
Sequencing Primer
(F):5'- GTGGATGAATGTTTAACTTAACGTTG -3'
(R):5'- CTTCTTCACATCTTGACAGCAGAAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation