Incidental Mutation 'R4721:Nlrp4e'
ID |
354464 |
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 |
041986-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4721 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
23000617-23061702 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 23020521 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 336
(V336E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076470]
|
AlphaFold |
Q66X19 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076470
AA Change: V336E
PolyPhen 2
Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000075794 Gene: ENSMUSG00000045693 AA Change: V336E
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: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
98% (90/92) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,385,107 (GRCm39) |
D286G |
probably benign |
Het |
Abca15 |
G |
A |
7: 119,949,998 (GRCm39) |
E491K |
probably benign |
Het |
Acsl5 |
A |
G |
19: 55,268,962 (GRCm39) |
T208A |
probably benign |
Het |
Adamts10 |
T |
A |
17: 33,764,511 (GRCm39) |
|
probably null |
Het |
Ahcyl1 |
T |
C |
3: 107,577,233 (GRCm39) |
Q313R |
possibly damaging |
Het |
Ccdc71 |
C |
T |
9: 108,340,622 (GRCm39) |
S145L |
possibly damaging |
Het |
Cep250 |
A |
G |
2: 155,812,119 (GRCm39) |
T472A |
probably damaging |
Het |
Copa |
T |
C |
1: 171,931,841 (GRCm39) |
|
probably benign |
Het |
Crybg1 |
C |
A |
10: 43,873,883 (GRCm39) |
R1075L |
probably damaging |
Het |
Ddr2 |
T |
A |
1: 169,832,809 (GRCm39) |
K84* |
probably null |
Het |
Ddx59 |
C |
T |
1: 136,344,844 (GRCm39) |
P172S |
probably benign |
Het |
Dhx34 |
T |
A |
7: 15,931,307 (GRCm39) |
Q1118L |
possibly damaging |
Het |
Dkkl1 |
T |
A |
7: 44,857,232 (GRCm39) |
I112F |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,944,140 (GRCm39) |
C1786S |
probably damaging |
Het |
Eml6 |
T |
A |
11: 29,788,525 (GRCm39) |
D520V |
possibly damaging |
Het |
Ergic1 |
T |
A |
17: 26,857,750 (GRCm39) |
V192E |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,941,262 (GRCm39) |
E1343G |
probably damaging |
Het |
Fxr1 |
T |
C |
3: 34,118,381 (GRCm39) |
S535P |
possibly damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm15446 |
C |
T |
5: 110,090,866 (GRCm39) |
H373Y |
probably damaging |
Het |
Gpr157 |
A |
T |
4: 150,183,420 (GRCm39) |
N197Y |
probably benign |
Het |
Grid2 |
G |
A |
6: 64,643,185 (GRCm39) |
M982I |
probably benign |
Het |
Hey2 |
G |
T |
10: 30,710,304 (GRCm39) |
R150S |
possibly damaging |
Het |
Hmcn1 |
T |
C |
1: 150,648,322 (GRCm39) |
|
probably null |
Het |
Ighv3-3 |
G |
A |
12: 114,160,156 (GRCm39) |
R85* |
probably null |
Het |
Ighv5-4 |
A |
T |
12: 113,561,060 (GRCm39) |
|
probably benign |
Het |
Igsf21 |
A |
G |
4: 139,834,621 (GRCm39) |
S84P |
probably benign |
Het |
Kif20b |
A |
G |
19: 34,915,773 (GRCm39) |
T517A |
probably benign |
Het |
Krt87 |
T |
C |
15: 101,385,863 (GRCm39) |
E244G |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,390,928 (GRCm39) |
T2990A |
possibly damaging |
Het |
Lrp1b |
T |
A |
2: 40,605,381 (GRCm39) |
|
probably null |
Het |
Lrrc42 |
A |
T |
4: 107,091,050 (GRCm39) |
S382T |
probably benign |
Het |
Magi2 |
C |
T |
5: 20,739,467 (GRCm39) |
R737W |
probably damaging |
Het |
Mcc |
A |
G |
18: 44,652,623 (GRCm39) |
L267P |
probably damaging |
Het |
Mzf1 |
T |
A |
7: 12,777,223 (GRCm39) |
Q727L |
possibly damaging |
Het |
Mzf1 |
C |
T |
7: 12,777,448 (GRCm39) |
R652Q |
possibly damaging |
Het |
Nkain3 |
C |
T |
4: 20,485,015 (GRCm39) |
A21T |
probably damaging |
Het |
Nptn |
C |
T |
9: 58,548,059 (GRCm39) |
R155C |
probably damaging |
Het |
Nr2c2 |
T |
C |
6: 92,116,828 (GRCm39) |
I10T |
possibly damaging |
Het |
Or12e13 |
T |
A |
2: 87,663,515 (GRCm39) |
I44N |
probably damaging |
Het |
Or1e26 |
C |
T |
11: 73,480,273 (GRCm39) |
C97Y |
probably damaging |
Het |
Or1j13 |
T |
C |
2: 36,369,836 (GRCm39) |
Y102C |
probably benign |
Het |
Pdzk1 |
G |
T |
3: 96,776,518 (GRCm39) |
E493* |
probably null |
Het |
Plekhh1 |
GTCAAA |
G |
12: 79,122,194 (GRCm39) |
|
probably null |
Het |
Polr3b |
T |
C |
10: 84,491,867 (GRCm39) |
V342A |
possibly damaging |
Het |
Prg3 |
T |
C |
2: 84,821,750 (GRCm39) |
V125A |
possibly damaging |
Het |
Raph1 |
G |
A |
1: 60,542,160 (GRCm39) |
|
probably benign |
Het |
Rassf2 |
A |
G |
2: 131,846,358 (GRCm39) |
V133A |
probably benign |
Het |
Rbm22 |
G |
A |
18: 60,697,463 (GRCm39) |
R56H |
probably damaging |
Het |
Rbpjl |
A |
C |
2: 164,246,447 (GRCm39) |
S31R |
probably benign |
Het |
Reln |
A |
G |
5: 22,124,220 (GRCm39) |
V2762A |
probably damaging |
Het |
Rxrg |
T |
A |
1: 167,452,621 (GRCm39) |
I141N |
probably damaging |
Het |
Scn7a |
C |
A |
2: 66,514,529 (GRCm39) |
G1082C |
probably damaging |
Het |
Selenon |
C |
A |
4: 134,270,387 (GRCm39) |
E322* |
probably null |
Het |
Sipa1 |
C |
T |
19: 5,710,413 (GRCm39) |
R199Q |
probably damaging |
Het |
Slc26a7 |
A |
T |
4: 14,510,261 (GRCm39) |
|
probably null |
Het |
Slc37a4 |
T |
C |
9: 44,312,787 (GRCm39) |
S314P |
possibly damaging |
Het |
Smarce1 |
T |
C |
11: 99,111,543 (GRCm39) |
I59V |
probably benign |
Het |
Stk19 |
T |
C |
17: 35,042,120 (GRCm39) |
|
probably null |
Het |
Susd2 |
C |
T |
10: 75,473,964 (GRCm39) |
D544N |
probably benign |
Het |
Tcf7l2 |
G |
T |
19: 55,919,886 (GRCm39) |
R465L |
possibly damaging |
Het |
Tfap2d |
T |
A |
1: 19,174,984 (GRCm39) |
S146T |
possibly damaging |
Het |
Tmem156 |
A |
G |
5: 65,248,870 (GRCm39) |
F10S |
probably benign |
Het |
Tmem63c |
G |
T |
12: 87,103,954 (GRCm39) |
A68S |
possibly damaging |
Het |
Tnfrsf21 |
T |
C |
17: 43,396,395 (GRCm39) |
C560R |
probably damaging |
Het |
Trav10n |
C |
T |
14: 53,359,590 (GRCm39) |
T7I |
probably benign |
Het |
Ttc38 |
C |
T |
15: 85,722,947 (GRCm39) |
R132W |
probably benign |
Het |
Tvp23a |
T |
C |
16: 10,245,275 (GRCm39) |
K108R |
probably benign |
Het |
Vmn1r233 |
T |
C |
17: 21,214,879 (GRCm39) |
M24V |
probably benign |
Het |
Vmn1r88 |
T |
A |
7: 12,912,451 (GRCm39) |
L269* |
probably null |
Het |
Vmn2r101 |
T |
A |
17: 19,832,287 (GRCm39) |
M761K |
probably damaging |
Het |
Vps13b |
C |
T |
15: 35,910,864 (GRCm39) |
Q3543* |
probably null |
Het |
Wdr37 |
T |
C |
13: 8,904,065 (GRCm39) |
E101G |
possibly damaging |
Het |
Zc3hc1 |
A |
G |
6: 30,374,899 (GRCm39) |
V214A |
probably benign |
Het |
Zcchc9 |
A |
T |
13: 91,948,728 (GRCm39) |
|
probably null |
Het |
Zdbf2 |
A |
T |
1: 63,347,951 (GRCm39) |
Q2110L |
possibly damaging |
Het |
Zfp516 |
T |
G |
18: 82,975,236 (GRCm39) |
L478R |
possibly 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 |
R1497:Nlrp4e
|
UTSW |
7 |
23,019,797 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
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'- GGAAGATGCTCCCTGAATCC -3'
(R):5'- AACATAAGCCCTGCAGCTGG -3'
Sequencing Primer
(F):5'- GAAGATGCTCCCTGAATCCTCTTTC -3'
(R):5'- ATAAGCCCTGCAGCTGGTCTTG -3'
|
Posted On |
2015-10-21 |