Incidental Mutation 'R9321:Nlrp4e'
ID |
706201 |
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 |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9321 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
23000617-23061702 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 23020755 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glycine
at position 414
(A414G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076470]
|
AlphaFold |
Q66X19 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076470
AA Change: A414G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000075794 Gene: ENSMUSG00000045693 AA Change: A414G
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,460,475 (GRCm39) |
S4162G |
probably benign |
Het |
Acvr2b |
T |
C |
9: 119,257,351 (GRCm39) |
I152T |
probably benign |
Het |
Adam15 |
T |
A |
3: 89,254,794 (GRCm39) |
|
probably null |
Het |
Adam34 |
C |
T |
8: 44,105,243 (GRCm39) |
G134D |
probably damaging |
Het |
Aifm2 |
C |
T |
10: 61,571,410 (GRCm39) |
Q315* |
probably null |
Het |
Akap10 |
A |
G |
11: 61,791,235 (GRCm39) |
F408S |
probably damaging |
Het |
Ap3b2 |
T |
C |
7: 81,114,252 (GRCm39) |
|
probably null |
Het |
Btbd2 |
A |
C |
10: 80,483,675 (GRCm39) |
V181G |
probably damaging |
Het |
Carmil3 |
G |
T |
14: 55,741,425 (GRCm39) |
G1070V |
|
Het |
Ceacam2 |
G |
T |
7: 25,230,089 (GRCm39) |
D172E |
possibly damaging |
Het |
Crtc3 |
G |
A |
7: 80,259,650 (GRCm39) |
A203V |
probably benign |
Het |
Dclre1a |
A |
G |
19: 56,531,100 (GRCm39) |
S749P |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,338,939 (GRCm39) |
|
probably null |
Het |
Eif2ak4 |
G |
A |
2: 118,292,798 (GRCm39) |
V1341M |
possibly damaging |
Het |
Enpp5 |
T |
C |
17: 44,393,689 (GRCm39) |
V295A |
possibly damaging |
Het |
Gm1110 |
T |
A |
9: 26,831,891 (GRCm39) |
M87L |
probably benign |
Het |
Gm57858 |
A |
T |
3: 36,073,139 (GRCm39) |
V381E |
probably damaging |
Het |
H2-Ab1 |
T |
C |
17: 34,486,969 (GRCm39) |
L241P |
probably damaging |
Het |
Hmx2 |
A |
G |
7: 131,157,320 (GRCm39) |
T145A |
probably benign |
Het |
Irag1 |
A |
G |
7: 110,524,534 (GRCm39) |
S138P |
probably benign |
Het |
Itpripl1 |
T |
C |
2: 126,984,000 (GRCm39) |
S41G |
probably benign |
Het |
Kcnb2 |
G |
A |
1: 15,779,793 (GRCm39) |
D222N |
possibly damaging |
Het |
Ldb3 |
C |
A |
14: 34,266,099 (GRCm39) |
G499* |
probably null |
Het |
Lig1 |
T |
C |
7: 13,034,935 (GRCm39) |
F577S |
probably damaging |
Het |
Lnx1 |
T |
C |
5: 74,780,991 (GRCm39) |
I177V |
probably damaging |
Het |
Mark4 |
G |
T |
7: 19,170,901 (GRCm39) |
T323K |
probably benign |
Het |
Mroh5 |
A |
G |
15: 73,661,113 (GRCm39) |
V301A |
probably benign |
Het |
Mtx3 |
T |
A |
13: 92,984,097 (GRCm39) |
W125R |
probably damaging |
Het |
Myo18a |
G |
A |
11: 77,733,370 (GRCm39) |
G1404R |
probably damaging |
Het |
Myom2 |
C |
T |
8: 15,172,464 (GRCm39) |
P1188S |
possibly damaging |
Het |
Nars1 |
C |
T |
18: 64,637,950 (GRCm39) |
E335K |
probably damaging |
Het |
Nfya |
A |
T |
17: 48,707,494 (GRCm39) |
V16E |
unknown |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Nme5 |
T |
G |
18: 34,704,597 (GRCm39) |
I83L |
probably benign |
Het |
Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
Nptx1 |
A |
G |
11: 119,438,378 (GRCm39) |
L13P |
unknown |
Het |
Or11g27 |
G |
A |
14: 50,771,471 (GRCm39) |
V201I |
probably benign |
Het |
Or13c25 |
G |
T |
4: 52,911,314 (GRCm39) |
T160N |
probably damaging |
Het |
Or13m2-ps1 |
T |
A |
6: 42,777,792 (GRCm39) |
V39D |
possibly damaging |
Het |
Or4k44 |
A |
G |
2: 111,368,434 (GRCm39) |
S67P |
probably damaging |
Het |
Or5j3 |
A |
T |
2: 86,128,297 (GRCm39) |
I46F |
probably benign |
Het |
Or6d13 |
T |
C |
6: 116,518,370 (GRCm39) |
Y319H |
probably benign |
Het |
Pdzd2 |
T |
C |
15: 12,386,023 (GRCm39) |
T916A |
probably benign |
Het |
Plekha6 |
A |
G |
1: 133,209,549 (GRCm39) |
N615S |
probably damaging |
Het |
Prorp |
A |
G |
12: 55,351,434 (GRCm39) |
I248V |
possibly damaging |
Het |
Rad52 |
T |
C |
6: 119,889,969 (GRCm39) |
Y32H |
probably damaging |
Het |
Slc22a16 |
T |
A |
10: 40,450,047 (GRCm39) |
I161N |
probably damaging |
Het |
Slx4 |
A |
G |
16: 3,804,654 (GRCm39) |
M720T |
probably benign |
Het |
Spem1 |
T |
C |
11: 69,712,661 (GRCm39) |
H58R |
probably benign |
Het |
Spg7 |
C |
A |
8: 123,803,688 (GRCm39) |
D239E |
probably benign |
Het |
Tas2r123 |
A |
T |
6: 132,825,095 (GRCm39) |
M331L |
probably benign |
Het |
Tcaf1 |
T |
C |
6: 42,656,290 (GRCm39) |
T229A |
probably benign |
Het |
Tdrd1 |
T |
C |
19: 56,848,767 (GRCm39) |
L939P |
probably damaging |
Het |
Timd2 |
T |
C |
11: 46,577,916 (GRCm39) |
T72A |
probably benign |
Het |
Tmem179 |
G |
T |
12: 112,477,390 (GRCm39) |
N31K |
probably damaging |
Het |
Tpd52l1 |
T |
C |
10: 31,214,189 (GRCm39) |
S165G |
|
Het |
Tubgcp6 |
T |
C |
15: 88,992,186 (GRCm39) |
T600A |
probably damaging |
Het |
Txlna |
T |
A |
4: 129,528,246 (GRCm39) |
E230D |
probably damaging |
Het |
Ush2a |
A |
T |
1: 188,089,148 (GRCm39) |
I368F |
probably damaging |
Het |
Vmn1r76 |
A |
T |
7: 11,665,094 (GRCm39) |
M40K |
possibly damaging |
Het |
Zfp592 |
C |
T |
7: 80,691,226 (GRCm39) |
S1135L |
possibly damaging |
Het |
Zfp606 |
A |
G |
7: 12,226,610 (GRCm39) |
T244A |
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 |
|
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 |
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 |
|
Posted On |
2022-04-18 |