Incidental Mutation 'R4830:Nlrp4e'
ID |
372740 |
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 |
042446-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4830 (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 T
at 23036165 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 673
(N673Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076470]
|
AlphaFold |
Q66X19 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076470
AA Change: N673Y
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000075794 Gene: ENSMUSG00000045693 AA Change: N673Y
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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.5%
|
Validation Efficiency |
97% (71/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd3 |
C |
A |
3: 121,553,933 (GRCm39) |
G643V |
probably damaging |
Het |
Adamtsl1 |
A |
G |
4: 86,274,619 (GRCm39) |
E1225G |
probably damaging |
Het |
Agbl5 |
G |
A |
5: 31,048,059 (GRCm39) |
R111H |
probably damaging |
Het |
Ankle2 |
A |
C |
5: 110,389,879 (GRCm39) |
K446Q |
probably damaging |
Het |
Boc |
A |
C |
16: 44,310,520 (GRCm39) |
M800R |
probably damaging |
Het |
Ccnt1 |
A |
T |
15: 98,441,332 (GRCm39) |
N645K |
probably damaging |
Het |
Cd93 |
G |
A |
2: 148,285,299 (GRCm39) |
Q16* |
probably null |
Het |
Cpsf4l |
G |
T |
11: 113,600,328 (GRCm39) |
|
probably benign |
Het |
Cuzd1 |
T |
A |
7: 130,919,783 (GRCm39) |
D111V |
probably damaging |
Het |
Dab2 |
T |
C |
15: 6,457,008 (GRCm39) |
C232R |
probably benign |
Het |
Dmpk |
A |
T |
7: 18,821,453 (GRCm39) |
Y237F |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,021,745 (GRCm39) |
T3526S |
possibly damaging |
Het |
Dock2 |
T |
C |
11: 34,223,767 (GRCm39) |
|
probably null |
Het |
Dsp |
G |
A |
13: 38,376,840 (GRCm39) |
V1542I |
probably benign |
Het |
Dst |
T |
A |
1: 34,237,586 (GRCm39) |
|
probably null |
Het |
Esd |
T |
C |
14: 74,978,600 (GRCm39) |
L54S |
probably damaging |
Het |
Exd1 |
C |
T |
2: 119,350,807 (GRCm39) |
A485T |
probably benign |
Het |
Gm3604 |
A |
T |
13: 62,516,857 (GRCm39) |
N500K |
probably damaging |
Het |
Grhl2 |
T |
A |
15: 37,335,903 (GRCm39) |
|
probably null |
Het |
Gsto1 |
C |
T |
19: 47,852,830 (GRCm39) |
R222C |
probably benign |
Het |
Inpp4a |
T |
A |
1: 37,410,861 (GRCm39) |
M343K |
probably damaging |
Het |
Itpripl2 |
T |
C |
7: 118,090,280 (GRCm39) |
Q93R |
probably benign |
Het |
Jakmip2 |
G |
A |
18: 43,700,208 (GRCm39) |
T450I |
probably benign |
Het |
Kdm6b |
A |
T |
11: 69,294,620 (GRCm39) |
I1186N |
unknown |
Het |
Kif1a |
T |
C |
1: 92,948,931 (GRCm39) |
|
probably null |
Het |
Klhl20 |
T |
C |
1: 160,925,946 (GRCm39) |
K434R |
probably benign |
Het |
Lemd3 |
T |
C |
10: 120,767,853 (GRCm39) |
D697G |
probably damaging |
Het |
Lipo3 |
A |
G |
19: 33,753,987 (GRCm39) |
S383P |
probably damaging |
Het |
Ltn1 |
C |
A |
16: 87,176,582 (GRCm39) |
K1741N |
probably damaging |
Het |
Lvrn |
A |
T |
18: 47,038,418 (GRCm39) |
T991S |
probably damaging |
Het |
Macroh2a2 |
C |
T |
10: 61,575,132 (GRCm39) |
D355N |
possibly damaging |
Het |
Mast3 |
C |
A |
8: 71,241,559 (GRCm39) |
R151L |
possibly damaging |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
Myoz1 |
T |
C |
14: 20,705,377 (GRCm39) |
K14E |
probably damaging |
Het |
Neb |
G |
T |
2: 52,082,532 (GRCm39) |
Q5450K |
probably damaging |
Het |
Nedd1 |
T |
A |
10: 92,522,120 (GRCm39) |
N639I |
probably damaging |
Het |
Nop53 |
C |
T |
7: 15,676,129 (GRCm39) |
R190Q |
probably damaging |
Het |
Notch4 |
T |
C |
17: 34,789,092 (GRCm39) |
Y468H |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,958,433 (GRCm39) |
T3507A |
probably damaging |
Het |
Opn5 |
T |
C |
17: 42,922,187 (GRCm39) |
H5R |
probably benign |
Het |
Or4l15 |
T |
C |
14: 50,197,681 (GRCm39) |
N283D |
probably damaging |
Het |
Patl1 |
T |
C |
19: 11,902,515 (GRCm39) |
M349T |
probably benign |
Het |
Phactr3 |
A |
G |
2: 177,925,811 (GRCm39) |
N362S |
probably damaging |
Het |
Pirb |
C |
T |
7: 3,720,602 (GRCm39) |
G299S |
probably benign |
Het |
Rapgef5 |
G |
A |
12: 117,719,809 (GRCm39) |
R579Q |
probably damaging |
Het |
Rgl1 |
T |
C |
1: 152,430,081 (GRCm39) |
D234G |
probably benign |
Het |
Serpinb3a |
C |
T |
1: 106,976,316 (GRCm39) |
E122K |
probably benign |
Het |
Slc22a15 |
T |
C |
3: 101,782,919 (GRCm39) |
|
probably benign |
Het |
Slc25a12 |
A |
T |
2: 71,127,149 (GRCm39) |
V344E |
probably damaging |
Het |
Slc43a2 |
T |
C |
11: 75,434,119 (GRCm39) |
L99P |
probably damaging |
Het |
Smim27 |
G |
T |
4: 40,269,719 (GRCm39) |
|
probably null |
Het |
Smtn |
A |
G |
11: 3,470,736 (GRCm39) |
|
probably benign |
Het |
Szt2 |
A |
T |
4: 118,226,445 (GRCm39) |
Y3001N |
unknown |
Het |
Tgfbr3 |
G |
T |
5: 107,257,585 (GRCm39) |
P825T |
probably damaging |
Het |
Tnpo3 |
T |
C |
6: 29,568,937 (GRCm39) |
T472A |
probably benign |
Het |
Trf |
T |
A |
9: 103,105,114 (GRCm39) |
D66V |
probably damaging |
Het |
Vmn1r124 |
A |
G |
7: 20,993,624 (GRCm39) |
C307R |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,452,370 (GRCm39) |
F656Y |
possibly damaging |
Het |
Zic1 |
G |
T |
9: 91,244,584 (GRCm39) |
S358R |
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 |
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 |
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'- CAGGCTTTCCTTATGTGACAGC -3'
(R):5'- CTTTAAGGGGAGTCAGTGAGCTAG -3'
Sequencing Primer
(F):5'- ATGTGACAGCCAACCTTGTC -3'
(R):5'- TGAGCTAGGAGAACACACAGACTTAC -3'
|
Posted On |
2016-03-01 |