Incidental Mutation 'R1998:Nlrp4e'
| ID |
224546 |
| 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 |
040008-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1998 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
23000617-23061702 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 23020671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 386
(Y386S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076470]
|
| AlphaFold |
Q66X19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076470
AA Change: Y386S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: Y386S
| 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 |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
G |
5: 88,118,553 (GRCm39) |
N12K |
probably damaging |
Het |
| 2700049A03Rik |
T |
A |
12: 71,235,393 (GRCm39) |
S1114R |
possibly damaging |
Het |
| Acot1 |
T |
A |
12: 84,056,527 (GRCm39) |
W82R |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,379,995 (GRCm39) |
D101G |
probably damaging |
Het |
| Adcy9 |
T |
C |
16: 4,115,276 (GRCm39) |
D705G |
probably benign |
Het |
| Adgrg3 |
T |
G |
8: 95,763,296 (GRCm39) |
L244V |
probably damaging |
Het |
| Amh |
AGCGCCTTGG |
AG |
10: 80,641,419 (GRCm39) |
|
probably null |
Het |
| Brinp1 |
C |
T |
4: 68,680,790 (GRCm39) |
G580E |
probably damaging |
Het |
| Brwd1 |
G |
A |
16: 95,822,488 (GRCm39) |
T1239M |
probably damaging |
Het |
| Camk1d |
A |
T |
2: 5,366,836 (GRCm39) |
Y126* |
probably null |
Het |
| Camta1 |
T |
C |
4: 151,162,337 (GRCm39) |
Y1560C |
probably damaging |
Het |
| Cbfa2t2 |
T |
A |
2: 154,346,709 (GRCm39) |
L139M |
probably damaging |
Het |
| Cd226 |
T |
C |
18: 89,225,343 (GRCm39) |
V80A |
probably damaging |
Het |
| Dgka |
C |
T |
10: 128,565,808 (GRCm39) |
V367I |
probably benign |
Het |
| Dnajb13 |
A |
T |
7: 100,153,817 (GRCm39) |
I206N |
probably benign |
Het |
| Dst |
A |
T |
1: 34,295,428 (GRCm39) |
Q5693L |
probably damaging |
Het |
| Ear6 |
T |
A |
14: 52,091,672 (GRCm39) |
I73N |
probably benign |
Het |
| Egr1 |
A |
G |
18: 34,994,587 (GRCm39) |
I16V |
probably benign |
Het |
| Eif2s1 |
T |
A |
12: 78,913,508 (GRCm39) |
C70S |
possibly damaging |
Het |
| Epcam |
T |
C |
17: 87,947,902 (GRCm39) |
V124A |
probably damaging |
Het |
| Erbb2 |
T |
A |
11: 98,319,779 (GRCm39) |
C624S |
probably damaging |
Het |
| Fam135b |
T |
A |
15: 71,324,253 (GRCm39) |
H1238L |
probably damaging |
Het |
| Fam90a1a |
A |
G |
8: 22,453,713 (GRCm39) |
D356G |
probably benign |
Het |
| Fbrsl1 |
G |
A |
5: 110,524,305 (GRCm39) |
S127L |
probably benign |
Het |
| Fndc3c1 |
C |
T |
X: 105,464,311 (GRCm39) |
E1276K |
probably benign |
Het |
| Gbe1 |
A |
T |
16: 70,365,929 (GRCm39) |
N702I |
probably damaging |
Het |
| Gm10643 |
A |
T |
8: 84,791,053 (GRCm39) |
C20* |
probably null |
Het |
| Gpr156 |
A |
G |
16: 37,818,270 (GRCm39) |
N322S |
possibly damaging |
Het |
| Gsdma |
T |
A |
11: 98,564,520 (GRCm39) |
I333N |
probably damaging |
Het |
| Gstm1 |
A |
G |
3: 107,922,127 (GRCm39) |
F170S |
probably damaging |
Het |
| Hgsnat |
C |
T |
8: 26,435,280 (GRCm39) |
W618* |
probably null |
Het |
| Htr5a |
G |
A |
5: 28,055,887 (GRCm39) |
V293M |
possibly damaging |
Het |
| Hyal4 |
A |
G |
6: 24,756,310 (GRCm39) |
E176G |
probably benign |
Het |
| Iqca1l |
G |
A |
5: 24,750,004 (GRCm39) |
R680C |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,932,858 (GRCm39) |
D546G |
probably damaging |
Het |
| Kbtbd3 |
A |
G |
9: 4,330,760 (GRCm39) |
E378G |
probably benign |
Het |
| Lipo4 |
A |
G |
19: 33,491,701 (GRCm39) |
V94A |
probably damaging |
Het |
| Magea10 |
A |
T |
X: 71,426,379 (GRCm39) |
I205K |
probably benign |
Het |
| Manea |
A |
G |
4: 26,327,871 (GRCm39) |
L390P |
probably damaging |
Het |
| Mars1 |
T |
A |
10: 127,136,347 (GRCm39) |
K493* |
probably null |
Het |
| Mars1 |
T |
C |
10: 127,138,740 (GRCm39) |
I439V |
probably benign |
Het |
| Mboat2 |
A |
G |
12: 24,996,672 (GRCm39) |
D225G |
possibly damaging |
Het |
| Mcmbp |
T |
A |
7: 128,310,887 (GRCm39) |
E350V |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,307,499 (GRCm39) |
M459T |
probably benign |
Het |
| Mlf1 |
G |
A |
3: 67,302,624 (GRCm39) |
G150R |
probably damaging |
Het |
| Mtmr14 |
A |
G |
6: 113,254,885 (GRCm39) |
D294G |
probably null |
Het |
| Nomo1 |
A |
G |
7: 45,683,368 (GRCm39) |
D38G |
possibly damaging |
Het |
| Nudcd2 |
T |
C |
11: 40,624,844 (GRCm39) |
W18R |
probably damaging |
Het |
| Or11g26 |
T |
A |
14: 50,752,813 (GRCm39) |
C51S |
probably benign |
Het |
| Or3a1b |
A |
G |
11: 74,012,406 (GRCm39) |
Y97C |
probably benign |
Het |
| Or52e4 |
G |
T |
7: 104,706,112 (GRCm39) |
V220L |
probably benign |
Het |
| Or5d16 |
G |
A |
2: 87,773,490 (GRCm39) |
L161F |
probably benign |
Het |
| Or5w16 |
T |
C |
2: 87,577,316 (GRCm39) |
Y259H |
probably damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,613,882 (GRCm39) |
V523D |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,791,988 (GRCm39) |
V1225A |
probably damaging |
Het |
| Plekhh2 |
T |
A |
17: 84,914,305 (GRCm39) |
L1236Q |
possibly damaging |
Het |
| Ppp2r1b |
A |
G |
9: 50,794,885 (GRCm39) |
D570G |
probably damaging |
Het |
| Prrc2c |
T |
A |
1: 162,532,487 (GRCm39) |
|
probably benign |
Het |
| Rai14 |
C |
T |
15: 10,595,067 (GRCm39) |
|
probably null |
Het |
| Rap1gap2 |
A |
G |
11: 74,286,659 (GRCm39) |
L547P |
probably benign |
Het |
| Rims3 |
A |
T |
4: 120,748,555 (GRCm39) |
M259L |
probably benign |
Het |
| Rsbn1l |
G |
A |
5: 21,107,368 (GRCm39) |
H549Y |
probably damaging |
Het |
| Sart3 |
A |
C |
5: 113,885,982 (GRCm39) |
|
probably null |
Het |
| Scn7a |
C |
A |
2: 66,513,613 (GRCm39) |
G1156C |
probably damaging |
Het |
| Sh3rf2 |
T |
A |
18: 42,274,148 (GRCm39) |
V406D |
probably damaging |
Het |
| Slitrk6 |
T |
C |
14: 110,989,255 (GRCm39) |
I151V |
probably damaging |
Het |
| Smarca2 |
A |
T |
19: 26,608,493 (GRCm39) |
Q260L |
probably benign |
Het |
| Smco1 |
A |
G |
16: 32,092,658 (GRCm39) |
R110G |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,668,989 (GRCm39) |
|
probably null |
Het |
| Stab1 |
T |
A |
14: 30,884,110 (GRCm39) |
K219* |
probably null |
Het |
| Sulf1 |
G |
T |
1: 12,929,058 (GRCm39) |
E869* |
probably null |
Het |
| Susd1 |
T |
C |
4: 59,349,925 (GRCm39) |
I504V |
probably benign |
Het |
| Szt2 |
A |
G |
4: 118,232,924 (GRCm39) |
|
probably null |
Het |
| Tas1r3 |
A |
T |
4: 155,947,377 (GRCm39) |
C103S |
probably damaging |
Het |
| Thg1l |
C |
A |
11: 45,841,030 (GRCm39) |
W243L |
possibly damaging |
Het |
| Tlr4 |
A |
T |
4: 66,758,707 (GRCm39) |
D500V |
probably damaging |
Het |
| Tmem72 |
A |
G |
6: 116,693,525 (GRCm39) |
V5A |
probably benign |
Het |
| Tns4 |
T |
G |
11: 98,976,529 (GRCm39) |
M131L |
probably benign |
Het |
| Trim66 |
C |
T |
7: 109,083,784 (GRCm39) |
|
probably null |
Het |
| Ttll6 |
T |
A |
11: 96,030,601 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,800,047 (GRCm39) |
I387N |
probably damaging |
Het |
| Ubqln5 |
T |
A |
7: 103,777,948 (GRCm39) |
Q292L |
probably damaging |
Het |
| Vmn1r74 |
G |
T |
7: 11,581,302 (GRCm39) |
V201F |
probably damaging |
Het |
| Vmn2r28 |
G |
T |
7: 5,491,313 (GRCm39) |
D311E |
possibly damaging |
Het |
| Vtn |
T |
A |
11: 78,390,542 (GRCm39) |
V67E |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,339,393 (GRCm39) |
F545I |
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 |
|
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 |
|
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'- AATGAGCAGCTGTTCTCTGTATG -3'
(R):5'- GAAAGATGGCAGCACAGACCTC -3'
Sequencing Primer
(F):5'- AGCAGCTGTTCTCTGTATGTCAAGTC -3'
(R):5'- CAGACCTCCTGGATAGATGGGTG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation