Incidental Mutation 'R4758:Nlrp4e'
ID |
358317 |
Institutional Source |
Beutler Lab
|
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 # |
R4758 (G1)
|
Quality Score |
91 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
23000617-23061702 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 23020043 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 177
(F177L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076470]
|
AlphaFold |
Q66X19 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076470
AA Change: F177L
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000075794 Gene: ENSMUSG00000045693 AA Change: F177L
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: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad9 |
T |
A |
3: 36,127,754 (GRCm39) |
Y119N |
probably damaging |
Het |
Actn2 |
T |
A |
13: 12,303,472 (GRCm39) |
K443* |
probably null |
Het |
Adgrb2 |
A |
G |
4: 129,903,143 (GRCm39) |
N581S |
probably damaging |
Het |
Afg2a |
T |
A |
3: 37,487,385 (GRCm39) |
S416T |
probably benign |
Het |
Alb |
A |
T |
5: 90,616,452 (GRCm39) |
H319L |
probably benign |
Het |
Aox1 |
A |
G |
1: 58,371,741 (GRCm39) |
I802V |
probably benign |
Het |
Arhgap45 |
G |
A |
10: 79,866,127 (GRCm39) |
G995E |
probably benign |
Het |
Capn12 |
A |
C |
7: 28,592,148 (GRCm39) |
T689P |
possibly damaging |
Het |
Cars1 |
T |
C |
7: 143,125,304 (GRCm39) |
S312G |
probably benign |
Het |
Cast |
T |
A |
13: 74,887,999 (GRCm39) |
D216V |
possibly damaging |
Het |
Ccdc13 |
C |
T |
9: 121,662,800 (GRCm39) |
E72K |
possibly damaging |
Het |
Cd300lg |
G |
T |
11: 101,944,417 (GRCm39) |
|
probably null |
Het |
Cep41 |
A |
G |
6: 30,671,368 (GRCm39) |
|
probably benign |
Het |
Chrna3 |
A |
G |
9: 54,929,560 (GRCm39) |
Y93H |
probably damaging |
Het |
Cic |
A |
G |
7: 24,991,636 (GRCm39) |
R1309G |
possibly damaging |
Het |
Clcnkb |
A |
G |
4: 141,135,160 (GRCm39) |
V526A |
probably benign |
Het |
Clec4a1 |
G |
T |
6: 122,910,825 (GRCm39) |
V227F |
probably damaging |
Het |
Cpa5 |
C |
A |
6: 30,615,159 (GRCm39) |
H99N |
possibly damaging |
Het |
Crem |
C |
A |
18: 3,327,527 (GRCm39) |
C4F |
probably damaging |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Decr2 |
C |
A |
17: 26,307,914 (GRCm39) |
E46D |
probably damaging |
Het |
Dlg1 |
G |
A |
16: 31,610,570 (GRCm39) |
V284I |
possibly damaging |
Het |
Dnah3 |
T |
C |
7: 119,678,629 (GRCm39) |
E360G |
probably benign |
Het |
Dnajc1 |
A |
T |
2: 18,313,757 (GRCm39) |
Y121* |
probably null |
Het |
Dnajc13 |
A |
G |
9: 104,049,773 (GRCm39) |
F1783L |
probably damaging |
Het |
Eps8l2 |
T |
A |
7: 140,940,286 (GRCm39) |
D505E |
probably damaging |
Het |
Eral1 |
G |
A |
11: 77,966,425 (GRCm39) |
T251I |
probably benign |
Het |
Eya3 |
T |
C |
4: 132,422,196 (GRCm39) |
|
probably null |
Het |
Fam120a |
G |
A |
13: 49,034,333 (GRCm39) |
T1093I |
probably benign |
Het |
Fbn2 |
C |
T |
18: 58,159,458 (GRCm39) |
A2424T |
probably benign |
Het |
Git2 |
G |
A |
5: 114,868,412 (GRCm39) |
T256M |
probably damaging |
Het |
Gm9805 |
A |
T |
17: 22,689,871 (GRCm38) |
Y34F |
probably benign |
Het |
Itgb7 |
T |
G |
15: 102,124,642 (GRCm39) |
T792P |
probably benign |
Het |
Jakmip1 |
T |
A |
5: 37,285,966 (GRCm39) |
I665N |
probably damaging |
Het |
Kcnt2 |
T |
C |
1: 140,446,635 (GRCm39) |
Y677H |
probably damaging |
Het |
Klhdc4 |
G |
A |
8: 122,524,783 (GRCm39) |
P382S |
probably benign |
Het |
Knl1 |
TCC |
TC |
2: 118,902,213 (GRCm39) |
|
probably null |
Het |
Lamb3 |
T |
A |
1: 193,022,269 (GRCm39) |
M1039K |
possibly damaging |
Het |
Lipm |
A |
T |
19: 34,078,570 (GRCm39) |
M1L |
possibly damaging |
Het |
Lrrc37 |
A |
G |
11: 103,505,290 (GRCm39) |
V2226A |
possibly damaging |
Het |
Magi3 |
T |
A |
3: 103,922,637 (GRCm39) |
D1360V |
probably benign |
Het |
Mier2 |
C |
A |
10: 79,386,182 (GRCm39) |
C23F |
probably damaging |
Het |
Myo1h |
C |
T |
5: 114,487,643 (GRCm39) |
R616C |
probably damaging |
Het |
Nars2 |
A |
G |
7: 96,622,735 (GRCm39) |
D187G |
probably damaging |
Het |
Nbea |
T |
C |
3: 55,912,824 (GRCm39) |
M988V |
probably benign |
Het |
Nlrc5 |
C |
A |
8: 95,238,956 (GRCm39) |
Q1465K |
possibly damaging |
Het |
Oas1a |
A |
G |
5: 121,045,401 (GRCm39) |
F47L |
probably damaging |
Het |
Oas1f |
A |
G |
5: 120,985,545 (GRCm39) |
E30G |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,894,189 (GRCm39) |
M6689K |
unknown |
Het |
Obscn |
A |
T |
11: 59,026,743 (GRCm39) |
D153E |
probably damaging |
Het |
Or52s6 |
A |
C |
7: 103,092,076 (GRCm39) |
C85G |
probably damaging |
Het |
Osmr |
A |
T |
15: 6,882,036 (GRCm39) |
I36K |
probably benign |
Het |
Pcf11 |
A |
T |
7: 92,310,383 (GRCm39) |
F535Y |
probably damaging |
Het |
Pde2a |
C |
T |
7: 101,160,706 (GRCm39) |
R886C |
probably damaging |
Het |
Pik3ca |
T |
A |
3: 32,492,127 (GRCm39) |
C242S |
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,311,674 (GRCm39) |
D1925E |
possibly damaging |
Het |
Plekhm2 |
A |
T |
4: 141,369,316 (GRCm39) |
Y123N |
possibly damaging |
Het |
Pomt2 |
A |
T |
12: 87,169,652 (GRCm39) |
V406D |
probably damaging |
Het |
Ppfia2 |
G |
C |
10: 106,597,978 (GRCm39) |
L180F |
probably damaging |
Het |
Prdm10 |
A |
T |
9: 31,273,708 (GRCm39) |
T985S |
probably benign |
Het |
Proc |
T |
A |
18: 32,256,863 (GRCm39) |
Y268F |
probably damaging |
Het |
Prrc1 |
C |
T |
18: 57,517,320 (GRCm39) |
T365M |
probably damaging |
Het |
Rasa1 |
A |
T |
13: 85,382,567 (GRCm39) |
D446E |
probably benign |
Het |
Ribc2 |
T |
A |
15: 85,025,867 (GRCm39) |
L281Q |
probably damaging |
Het |
Runx1t1 |
A |
G |
4: 13,865,907 (GRCm39) |
D385G |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,717,880 (GRCm39) |
S1495P |
possibly damaging |
Het |
Slc15a3 |
G |
T |
19: 10,831,726 (GRCm39) |
|
probably null |
Het |
Slc43a3 |
A |
G |
2: 84,774,869 (GRCm39) |
N149S |
probably damaging |
Het |
Specc1l |
A |
G |
10: 75,082,182 (GRCm39) |
Q543R |
probably damaging |
Het |
Spef1 |
T |
C |
2: 131,014,661 (GRCm39) |
|
probably null |
Het |
Spns1 |
A |
T |
7: 125,969,966 (GRCm39) |
F478Y |
probably damaging |
Het |
Srebf2 |
T |
C |
15: 82,080,370 (GRCm39) |
V821A |
probably benign |
Het |
Stac3 |
A |
G |
10: 127,339,214 (GRCm39) |
M108V |
possibly damaging |
Het |
Stradb |
A |
G |
1: 59,027,730 (GRCm39) |
T87A |
probably benign |
Het |
Stxbp5l |
A |
T |
16: 36,954,592 (GRCm39) |
M906K |
probably benign |
Het |
Tex14 |
T |
C |
11: 87,405,311 (GRCm39) |
V741A |
probably benign |
Het |
Thoc2l |
A |
C |
5: 104,668,265 (GRCm39) |
E929A |
possibly damaging |
Het |
Tpo |
C |
A |
12: 30,125,870 (GRCm39) |
G830C |
probably damaging |
Het |
Unc79 |
T |
A |
12: 103,128,080 (GRCm39) |
C2308* |
probably null |
Het |
Vmn1r205 |
T |
C |
13: 22,777,016 (GRCm39) |
T29A |
possibly damaging |
Het |
Vmn1r69 |
G |
A |
7: 10,314,473 (GRCm39) |
T7I |
probably benign |
Het |
Vmn2r27 |
T |
G |
6: 124,208,596 (GRCm39) |
T50P |
possibly damaging |
Het |
Wdr83 |
A |
G |
8: 85,801,867 (GRCm39) |
Y302H |
probably benign |
Het |
Xirp2 |
A |
T |
2: 67,346,879 (GRCm39) |
E3040V |
probably damaging |
Het |
Zfp629 |
C |
A |
7: 127,209,758 (GRCm39) |
G684W |
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 |
|
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'- TTGAAGAAGAAGCTGACCCATG -3'
(R):5'- TCACTTCCAAGTTGTCGATGAC -3'
Sequencing Primer
(F):5'- GCTGACCCATGATTATGCCAG -3'
(R):5'- CAAATAAGAGTTTCTCCGGTTGGGAC -3'
|
Posted On |
2015-11-11 |