Incidental Mutation 'IGL01924:Nlrp4e'
ID |
180197 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nlrp4e
|
Ensembl Gene |
ENSMUSG00000045693 |
Gene Name |
NLR family, pyrin domain containing 4E |
Synonyms |
4930406H16Rik, Nalp4e, Nalp-epsilon |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01924
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
23000617-23061702 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 23020255 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 247
(C247*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076470]
|
AlphaFold |
Q66X19 |
Predicted Effect |
probably null
Transcript: ENSMUST00000076470
AA Change: C247*
|
SMART Domains |
Protein: ENSMUSP00000075794 Gene: ENSMUSG00000045693 AA Change: C247*
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
C |
T |
5: 114,362,047 (GRCm39) |
|
probably benign |
Het |
Adamts13 |
A |
G |
2: 26,886,595 (GRCm39) |
E938G |
possibly damaging |
Het |
Aox1 |
C |
T |
1: 58,326,902 (GRCm39) |
T167I |
possibly damaging |
Het |
Apba3 |
G |
T |
10: 81,108,907 (GRCm39) |
A557S |
probably benign |
Het |
Atad2b |
T |
C |
12: 5,084,093 (GRCm39) |
L1382P |
probably damaging |
Het |
Atrn |
C |
T |
2: 130,777,485 (GRCm39) |
T178I |
probably damaging |
Het |
B4galnt1 |
A |
G |
10: 127,002,630 (GRCm39) |
S88G |
probably benign |
Het |
Baz2b |
T |
C |
2: 59,765,615 (GRCm39) |
K887E |
probably damaging |
Het |
Castor2 |
T |
C |
5: 134,164,441 (GRCm39) |
F134S |
probably benign |
Het |
Ccdc162 |
A |
C |
10: 41,445,883 (GRCm39) |
F430V |
probably damaging |
Het |
Cdc42bpb |
T |
A |
12: 111,283,887 (GRCm39) |
|
probably benign |
Het |
Cfhr4 |
G |
A |
1: 139,666,944 (GRCm39) |
L444F |
probably damaging |
Het |
Chit1 |
A |
G |
1: 134,077,148 (GRCm39) |
D317G |
probably benign |
Het |
Chrnb1 |
A |
T |
11: 69,685,845 (GRCm39) |
|
probably benign |
Het |
Cobl |
G |
T |
11: 12,204,596 (GRCm39) |
T620K |
probably benign |
Het |
Creld1 |
T |
C |
6: 113,460,921 (GRCm39) |
F20L |
probably benign |
Het |
Csmd2 |
A |
T |
4: 128,453,740 (GRCm39) |
D3475V |
unknown |
Het |
Cyp3a57 |
A |
G |
5: 145,309,439 (GRCm39) |
D259G |
probably benign |
Het |
Dbnl |
A |
G |
11: 5,747,142 (GRCm39) |
Y224C |
probably damaging |
Het |
Det1 |
A |
T |
7: 78,493,571 (GRCm39) |
C144* |
probably null |
Het |
Fbxo47 |
G |
T |
11: 97,746,986 (GRCm39) |
A360D |
probably damaging |
Het |
Frrs1 |
G |
A |
3: 116,678,888 (GRCm39) |
G237R |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
Gria2 |
T |
C |
3: 80,617,638 (GRCm39) |
T372A |
probably benign |
Het |
Hmcn2 |
A |
T |
2: 31,288,929 (GRCm39) |
Q2246L |
probably benign |
Het |
Ide |
T |
C |
19: 37,249,563 (GRCm39) |
M930V |
unknown |
Het |
Kdm5a |
T |
C |
6: 120,371,216 (GRCm39) |
|
probably null |
Het |
Khnyn |
A |
G |
14: 56,132,426 (GRCm39) |
T625A |
probably benign |
Het |
Lrrtm1 |
T |
C |
6: 77,221,169 (GRCm39) |
F209L |
possibly damaging |
Het |
Med13 |
C |
A |
11: 86,199,522 (GRCm39) |
|
probably benign |
Het |
Myom2 |
A |
G |
8: 15,119,685 (GRCm39) |
E147G |
probably benign |
Het |
Myrip |
T |
A |
9: 120,217,330 (GRCm39) |
V88D |
probably damaging |
Het |
Nbeal2 |
T |
C |
9: 110,460,482 (GRCm39) |
H1784R |
probably benign |
Het |
Nup54 |
G |
A |
5: 92,572,294 (GRCm39) |
P252L |
probably benign |
Het |
Or51ag1 |
A |
G |
7: 103,156,003 (GRCm39) |
I50T |
possibly damaging |
Het |
Otoa |
C |
A |
7: 120,705,191 (GRCm39) |
N244K |
probably damaging |
Het |
Pbrm1 |
G |
A |
14: 30,804,561 (GRCm39) |
R960H |
probably damaging |
Het |
Ptcd3 |
A |
T |
6: 71,875,411 (GRCm39) |
N190K |
probably damaging |
Het |
Rhobtb1 |
T |
A |
10: 69,106,134 (GRCm39) |
L233H |
probably damaging |
Het |
Sec24c |
T |
A |
14: 20,739,757 (GRCm39) |
F545I |
probably damaging |
Het |
Slc6a15 |
T |
C |
10: 103,240,686 (GRCm39) |
|
probably null |
Het |
Slitrk1 |
G |
A |
14: 109,148,671 (GRCm39) |
A680V |
probably benign |
Het |
Smpd1 |
C |
T |
7: 105,204,655 (GRCm39) |
S178L |
probably benign |
Het |
Spindoc |
A |
G |
19: 7,360,042 (GRCm39) |
L42P |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,544,419 (GRCm39) |
E2145G |
probably damaging |
Het |
Tmem144 |
G |
T |
3: 79,746,501 (GRCm39) |
A18E |
probably damaging |
Het |
Tmem213 |
A |
T |
6: 38,086,373 (GRCm39) |
S10C |
possibly damaging |
Het |
Trav6-3 |
A |
T |
14: 53,667,800 (GRCm39) |
I102L |
probably benign |
Het |
Trip11 |
T |
G |
12: 101,853,143 (GRCm39) |
N483T |
possibly damaging |
Het |
Unc13b |
C |
T |
4: 43,239,385 (GRCm39) |
R1056* |
probably null |
Het |
Wdr27 |
T |
G |
17: 15,137,488 (GRCm39) |
K433N |
probably damaging |
Het |
Wls |
C |
A |
3: 159,607,080 (GRCm39) |
S189* |
probably null |
Het |
Yeats2 |
A |
G |
16: 20,024,917 (GRCm39) |
N706D |
probably damaging |
Het |
Zbp1 |
A |
G |
2: 173,054,047 (GRCm39) |
V158A |
probably benign |
Het |
Zfp595 |
G |
T |
13: 67,465,847 (GRCm39) |
H139N |
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 |
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 |
|
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 |
|
Posted On |
2014-05-07 |