Incidental Mutation 'R1497:Nlrp4e'
ID |
168955 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nlrp4e
|
Ensembl Gene |
ENSMUSG00000045693 |
Gene Name |
NLR family, pyrin domain containing 4E |
Synonyms |
4930406H16Rik, Nalp4e, Nalp-epsilon |
MMRRC Submission |
039548-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1497 (G1)
|
Quality Score |
132 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
23000617-23061702 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 23019797 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 95
(S95P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076470]
|
AlphaFold |
Q66X19 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076470
AA Change: S95P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000075794 Gene: ENSMUSG00000045693 AA Change: S95P
Domain | Start | End | E-Value | Type |
PYRIN
|
6 |
89 |
1.43e-35 |
SMART |
Pfam:NACHT
|
148 |
317 |
1.3e-39 |
PFAM |
LRR
|
689 |
716 |
1.87e1 |
SMART |
LRR
|
718 |
745 |
7.74e0 |
SMART |
LRR
|
746 |
772 |
2.5e1 |
SMART |
LRR
|
774 |
801 |
2.67e1 |
SMART |
LRR
|
802 |
829 |
6.48e-1 |
SMART |
LRR
|
831 |
858 |
2.03e0 |
SMART |
LRR
|
859 |
886 |
2.88e-6 |
SMART |
LRR
|
888 |
915 |
9.41e0 |
SMART |
LRR
|
916 |
943 |
1.02e2 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.4%
|
Validation Efficiency |
99% (79/80) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
G |
T |
11: 109,864,647 (GRCm39) |
|
probably benign |
Het |
Abhd17a |
A |
G |
10: 80,420,164 (GRCm39) |
|
probably benign |
Het |
Acacb |
G |
A |
5: 114,334,868 (GRCm39) |
E646K |
probably damaging |
Het |
Afap1l2 |
T |
C |
19: 56,916,743 (GRCm39) |
M262V |
probably benign |
Het |
Anapc7 |
T |
A |
5: 122,573,578 (GRCm39) |
|
probably benign |
Het |
Car5b |
T |
A |
X: 162,771,400 (GRCm39) |
K188N |
probably benign |
Het |
Caskin1 |
C |
T |
17: 24,723,515 (GRCm39) |
R768* |
probably null |
Het |
Casp8ap2 |
T |
C |
4: 32,639,938 (GRCm39) |
S331P |
probably benign |
Het |
Ccdc68 |
C |
T |
18: 70,093,585 (GRCm39) |
|
probably benign |
Het |
Cd44 |
A |
T |
2: 102,673,300 (GRCm39) |
|
probably null |
Het |
Celsr3 |
A |
G |
9: 108,726,064 (GRCm39) |
S3090G |
probably benign |
Het |
Clasp1 |
A |
T |
1: 118,479,788 (GRCm39) |
M1023L |
probably benign |
Het |
Clec16a |
T |
C |
16: 10,453,123 (GRCm39) |
F608S |
probably damaging |
Het |
Col7a1 |
A |
C |
9: 108,807,893 (GRCm39) |
E2531A |
unknown |
Het |
Ctc1 |
T |
A |
11: 68,913,387 (GRCm39) |
C128S |
probably benign |
Het |
Cyp2d41-ps |
T |
C |
15: 82,666,223 (GRCm39) |
|
noncoding transcript |
Het |
Cyp2j6 |
T |
A |
4: 96,419,898 (GRCm39) |
I278F |
probably damaging |
Het |
Dhtkd1 |
A |
T |
2: 5,908,924 (GRCm39) |
S723R |
probably damaging |
Het |
Dhx8 |
A |
G |
11: 101,626,213 (GRCm39) |
|
probably benign |
Het |
Dnah17 |
A |
T |
11: 118,005,059 (GRCm39) |
L775Q |
probably damaging |
Het |
Dnah8 |
C |
A |
17: 30,971,049 (GRCm39) |
T2701K |
probably damaging |
Het |
Eml3 |
T |
A |
19: 8,913,733 (GRCm39) |
S424R |
probably damaging |
Het |
Epm2aip1 |
A |
G |
9: 111,101,315 (GRCm39) |
E96G |
possibly damaging |
Het |
Ezr |
T |
C |
17: 7,010,107 (GRCm39) |
H314R |
probably benign |
Het |
Fam193b |
G |
T |
13: 55,702,247 (GRCm39) |
H43Q |
probably damaging |
Het |
Fam217a |
T |
A |
13: 35,095,195 (GRCm39) |
N340I |
probably damaging |
Het |
Fcrl1 |
A |
T |
3: 87,292,109 (GRCm39) |
Q89H |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,127,076 (GRCm39) |
H1996L |
unknown |
Het |
Gabpb1 |
C |
T |
2: 126,481,169 (GRCm39) |
V327M |
possibly damaging |
Het |
Gtf3c3 |
A |
G |
1: 54,477,098 (GRCm39) |
V36A |
probably benign |
Het |
Hspg2 |
A |
G |
4: 137,275,407 (GRCm39) |
N2739S |
probably damaging |
Het |
Hyal1 |
A |
G |
9: 107,455,194 (GRCm39) |
|
probably null |
Het |
Ipo13 |
T |
C |
4: 117,761,856 (GRCm39) |
D448G |
probably benign |
Het |
Kcnq5 |
T |
C |
1: 21,472,610 (GRCm39) |
D860G |
possibly damaging |
Het |
Kif13b |
A |
G |
14: 64,973,715 (GRCm39) |
N355S |
probably damaging |
Het |
Kmt2c |
T |
A |
5: 25,519,513 (GRCm39) |
H2199L |
possibly damaging |
Het |
Magi1 |
A |
G |
6: 93,724,310 (GRCm39) |
F235S |
probably damaging |
Het |
Maml1 |
A |
C |
11: 50,156,534 (GRCm39) |
M547R |
possibly damaging |
Het |
Mapk7 |
T |
C |
11: 61,384,689 (GRCm39) |
K6E |
possibly damaging |
Het |
Mbd5 |
T |
A |
2: 49,147,393 (GRCm39) |
N534K |
possibly damaging |
Het |
Mcat |
G |
A |
15: 83,433,453 (GRCm39) |
Q34* |
probably null |
Het |
Mcu |
T |
A |
10: 59,284,670 (GRCm39) |
D180V |
probably damaging |
Het |
Mettl21c |
G |
T |
1: 44,048,951 (GRCm39) |
P199T |
probably benign |
Het |
Mndal |
A |
T |
1: 173,700,441 (GRCm39) |
S177T |
probably benign |
Het |
Mpeg1 |
G |
T |
19: 12,438,611 (GRCm39) |
C23F |
probably benign |
Het |
Mup15 |
T |
A |
4: 61,356,471 (GRCm39) |
Y98F |
probably benign |
Het |
Myh8 |
T |
C |
11: 67,180,638 (GRCm39) |
S625P |
probably benign |
Het |
Nipsnap2 |
T |
C |
5: 129,830,282 (GRCm39) |
|
probably benign |
Het |
Or1e19 |
T |
A |
11: 73,316,653 (GRCm39) |
D52V |
possibly damaging |
Het |
Or4a66 |
T |
C |
2: 88,531,106 (GRCm39) |
D189G |
probably damaging |
Het |
Otop2 |
A |
G |
11: 115,220,675 (GRCm39) |
|
probably null |
Het |
Pcnx4 |
G |
C |
12: 72,621,174 (GRCm39) |
G998A |
probably benign |
Het |
Pnkd |
C |
A |
1: 74,390,681 (GRCm39) |
|
probably null |
Het |
Ppp4r4 |
T |
A |
12: 103,573,204 (GRCm39) |
V701E |
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,616,727 (GRCm39) |
I3897T |
probably damaging |
Het |
Scn1a |
T |
C |
2: 66,162,631 (GRCm39) |
E205G |
probably damaging |
Het |
Sdk2 |
G |
A |
11: 113,784,401 (GRCm39) |
|
probably benign |
Het |
Serpinb5 |
A |
T |
1: 106,803,782 (GRCm39) |
Q156L |
probably benign |
Het |
Setdb1 |
A |
T |
3: 95,234,778 (GRCm39) |
V975D |
probably benign |
Het |
Shc1 |
A |
G |
3: 89,335,752 (GRCm39) |
*470W |
probably null |
Het |
Sik3 |
T |
A |
9: 46,113,320 (GRCm39) |
V587E |
probably damaging |
Het |
Sik3 |
C |
A |
9: 46,132,387 (GRCm39) |
H1276Q |
probably benign |
Het |
Spata7 |
T |
C |
12: 98,635,120 (GRCm39) |
I384T |
probably damaging |
Het |
Tanc2 |
T |
A |
11: 105,812,963 (GRCm39) |
V1469D |
probably benign |
Het |
Tasor2 |
T |
C |
13: 3,620,409 (GRCm39) |
E2164G |
probably damaging |
Het |
Tdrd5 |
A |
T |
1: 156,083,372 (GRCm39) |
N888K |
probably benign |
Het |
Tex22 |
T |
C |
12: 113,039,000 (GRCm39) |
S34P |
probably benign |
Het |
Tmed6 |
T |
C |
8: 107,790,754 (GRCm39) |
T98A |
probably benign |
Het |
Trim66 |
G |
A |
7: 109,083,826 (GRCm39) |
P141L |
probably benign |
Het |
Trpa1 |
T |
C |
1: 14,956,036 (GRCm39) |
I778V |
probably benign |
Het |
Urb2 |
T |
A |
8: 124,754,816 (GRCm39) |
H174Q |
probably damaging |
Het |
Usb1 |
T |
C |
8: 96,065,325 (GRCm39) |
V59A |
probably benign |
Het |
Vmn1r11 |
T |
A |
6: 57,114,394 (GRCm39) |
N19K |
probably damaging |
Het |
Vmn1r185 |
A |
T |
7: 26,311,219 (GRCm39) |
F95L |
probably benign |
Het |
Vmn1r206 |
C |
T |
13: 22,805,160 (GRCm39) |
V16M |
probably benign |
Het |
Vmn2r92 |
T |
C |
17: 18,387,625 (GRCm39) |
V210A |
probably benign |
Het |
Wdr17 |
A |
T |
8: 55,125,536 (GRCm39) |
I448K |
possibly damaging |
Het |
Zfp768 |
T |
A |
7: 126,942,733 (GRCm39) |
Q465L |
probably damaging |
Het |
Zfp804b |
T |
A |
5: 6,821,105 (GRCm39) |
N617Y |
probably damaging |
Het |
|
Other mutations in Nlrp4e |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00704:Nlrp4e
|
APN |
7 |
23,042,565 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00833:Nlrp4e
|
APN |
7 |
23,039,896 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01017:Nlrp4e
|
APN |
7 |
23,021,092 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01025:Nlrp4e
|
APN |
7 |
23,052,586 (GRCm39) |
splice site |
probably benign |
|
IGL01815:Nlrp4e
|
APN |
7 |
23,020,863 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01924:Nlrp4e
|
APN |
7 |
23,020,255 (GRCm39) |
nonsense |
probably null |
|
IGL02245:Nlrp4e
|
APN |
7 |
23,020,300 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02745:Nlrp4e
|
APN |
7 |
23,020,716 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02746:Nlrp4e
|
APN |
7 |
23,021,264 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02987:Nlrp4e
|
APN |
7 |
23,000,858 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02997:Nlrp4e
|
APN |
7 |
23,000,799 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03193:Nlrp4e
|
APN |
7 |
23,020,251 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03304:Nlrp4e
|
APN |
7 |
23,052,768 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03352:Nlrp4e
|
APN |
7 |
23,020,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R0389:Nlrp4e
|
UTSW |
7 |
23,054,628 (GRCm39) |
missense |
probably damaging |
0.98 |
R1028:Nlrp4e
|
UTSW |
7 |
23,021,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R1163:Nlrp4e
|
UTSW |
7 |
23,020,397 (GRCm39) |
missense |
probably benign |
0.03 |
R1269:Nlrp4e
|
UTSW |
7 |
23,052,763 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1400:Nlrp4e
|
UTSW |
7 |
23,021,085 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1518:Nlrp4e
|
UTSW |
7 |
23,021,268 (GRCm39) |
missense |
probably benign |
0.33 |
R1716:Nlrp4e
|
UTSW |
7 |
23,020,458 (GRCm39) |
missense |
possibly damaging |
0.56 |
R1727:Nlrp4e
|
UTSW |
7 |
23,020,420 (GRCm39) |
missense |
probably benign |
0.01 |
R1998:Nlrp4e
|
UTSW |
7 |
23,020,671 (GRCm39) |
missense |
probably benign |
0.00 |
R2177:Nlrp4e
|
UTSW |
7 |
23,054,686 (GRCm39) |
missense |
probably benign |
0.00 |
R3724:Nlrp4e
|
UTSW |
7 |
23,020,802 (GRCm39) |
missense |
probably benign |
0.28 |
R3767:Nlrp4e
|
UTSW |
7 |
23,039,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R3795:Nlrp4e
|
UTSW |
7 |
23,020,228 (GRCm39) |
missense |
probably benign |
0.35 |
R4387:Nlrp4e
|
UTSW |
7 |
23,020,652 (GRCm39) |
missense |
probably benign |
0.01 |
R4387:Nlrp4e
|
UTSW |
7 |
23,000,902 (GRCm39) |
missense |
probably benign |
0.00 |
R4388:Nlrp4e
|
UTSW |
7 |
23,020,652 (GRCm39) |
missense |
probably benign |
0.01 |
R4388:Nlrp4e
|
UTSW |
7 |
23,000,902 (GRCm39) |
missense |
probably benign |
0.00 |
R4389:Nlrp4e
|
UTSW |
7 |
23,020,652 (GRCm39) |
missense |
probably benign |
0.01 |
R4403:Nlrp4e
|
UTSW |
7 |
23,020,888 (GRCm39) |
nonsense |
probably null |
|
R4444:Nlrp4e
|
UTSW |
7 |
23,020,652 (GRCm39) |
missense |
probably benign |
0.01 |
R4486:Nlrp4e
|
UTSW |
7 |
23,020,652 (GRCm39) |
missense |
probably benign |
0.01 |
R4547:Nlrp4e
|
UTSW |
7 |
23,036,291 (GRCm39) |
missense |
probably benign |
0.00 |
R4553:Nlrp4e
|
UTSW |
7 |
23,020,404 (GRCm39) |
missense |
probably benign |
|
R4666:Nlrp4e
|
UTSW |
7 |
23,036,205 (GRCm39) |
nonsense |
probably null |
|
R4721:Nlrp4e
|
UTSW |
7 |
23,020,521 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4728:Nlrp4e
|
UTSW |
7 |
23,020,989 (GRCm39) |
missense |
probably benign |
|
R4758:Nlrp4e
|
UTSW |
7 |
23,020,043 (GRCm39) |
missense |
probably benign |
0.17 |
R4775:Nlrp4e
|
UTSW |
7 |
23,042,525 (GRCm39) |
missense |
probably benign |
0.14 |
R4830:Nlrp4e
|
UTSW |
7 |
23,036,165 (GRCm39) |
missense |
probably benign |
0.03 |
R4954:Nlrp4e
|
UTSW |
7 |
23,061,318 (GRCm39) |
nonsense |
probably null |
|
R5277:Nlrp4e
|
UTSW |
7 |
23,020,863 (GRCm39) |
missense |
probably benign |
0.02 |
R5352:Nlrp4e
|
UTSW |
7 |
23,052,598 (GRCm39) |
missense |
probably benign |
0.26 |
R5521:Nlrp4e
|
UTSW |
7 |
23,021,190 (GRCm39) |
missense |
probably benign |
0.00 |
R5528:Nlrp4e
|
UTSW |
7 |
23,036,316 (GRCm39) |
missense |
probably benign |
0.07 |
R5537:Nlrp4e
|
UTSW |
7 |
23,019,914 (GRCm39) |
missense |
probably benign |
0.00 |
R5584:Nlrp4e
|
UTSW |
7 |
23,020,602 (GRCm39) |
missense |
probably benign |
|
R5683:Nlrp4e
|
UTSW |
7 |
23,052,697 (GRCm39) |
missense |
probably damaging |
0.99 |
R6160:Nlrp4e
|
UTSW |
7 |
23,020,731 (GRCm39) |
missense |
probably damaging |
0.99 |
R6313:Nlrp4e
|
UTSW |
7 |
23,052,597 (GRCm39) |
missense |
probably benign |
|
R6427:Nlrp4e
|
UTSW |
7 |
23,020,058 (GRCm39) |
missense |
possibly damaging |
0.48 |
R6647:Nlrp4e
|
UTSW |
7 |
23,020,740 (GRCm39) |
missense |
probably benign |
0.00 |
R6929:Nlrp4e
|
UTSW |
7 |
23,036,156 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7307:Nlrp4e
|
UTSW |
7 |
23,020,953 (GRCm39) |
missense |
probably benign |
0.07 |
R7792:Nlrp4e
|
UTSW |
7 |
23,021,182 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8169:Nlrp4e
|
UTSW |
7 |
23,019,931 (GRCm39) |
missense |
probably benign |
0.06 |
R8445:Nlrp4e
|
UTSW |
7 |
23,039,965 (GRCm39) |
missense |
probably benign |
0.00 |
R8487:Nlrp4e
|
UTSW |
7 |
23,020,983 (GRCm39) |
missense |
probably benign |
0.00 |
R8906:Nlrp4e
|
UTSW |
7 |
23,020,556 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9124:Nlrp4e
|
UTSW |
7 |
23,020,403 (GRCm39) |
missense |
probably benign |
|
R9167:Nlrp4e
|
UTSW |
7 |
23,039,951 (GRCm39) |
missense |
probably benign |
0.00 |
R9181:Nlrp4e
|
UTSW |
7 |
23,061,270 (GRCm39) |
nonsense |
probably null |
|
R9219:Nlrp4e
|
UTSW |
7 |
23,020,941 (GRCm39) |
missense |
possibly damaging |
0.50 |
R9229:Nlrp4e
|
UTSW |
7 |
23,020,799 (GRCm39) |
missense |
probably benign |
0.00 |
R9321:Nlrp4e
|
UTSW |
7 |
23,020,755 (GRCm39) |
missense |
probably benign |
|
R9323:Nlrp4e
|
UTSW |
7 |
23,020,755 (GRCm39) |
missense |
probably benign |
|
R9325:Nlrp4e
|
UTSW |
7 |
23,020,755 (GRCm39) |
missense |
probably benign |
|
R9379:Nlrp4e
|
UTSW |
7 |
23,020,755 (GRCm39) |
missense |
probably benign |
|
R9380:Nlrp4e
|
UTSW |
7 |
23,020,755 (GRCm39) |
missense |
probably benign |
|
R9448:Nlrp4e
|
UTSW |
7 |
23,000,956 (GRCm39) |
missense |
probably benign |
|
R9523:Nlrp4e
|
UTSW |
7 |
23,054,636 (GRCm39) |
missense |
probably benign |
0.00 |
R9593:Nlrp4e
|
UTSW |
7 |
23,020,197 (GRCm39) |
missense |
probably benign |
0.19 |
X0022:Nlrp4e
|
UTSW |
7 |
23,042,544 (GRCm39) |
missense |
probably damaging |
1.00 |
X0025:Nlrp4e
|
UTSW |
7 |
23,042,603 (GRCm39) |
missense |
possibly damaging |
0.91 |
X0026:Nlrp4e
|
UTSW |
7 |
23,054,648 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTCTGACCTCCACAGGAATCCACT -3'
(R):5'- GCCTTCTGACCAGGCAAGCATTAAC -3'
Sequencing Primer
(F):5'- tgggaggcagaggcagg -3'
(R):5'- GTCAACATCAGTGACTTGCC -3'
|
Posted On |
2014-04-13 |