Incidental Mutation 'R4775:Nlrp4e'
| ID |
367843 |
| 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 |
041991-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4775 (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 G
at 23042525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 804
(T804A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076470]
|
| AlphaFold |
Q66X19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076470
AA Change: T804A
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: T804A
| 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: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,134,165 (GRCm39) |
Y426C |
probably damaging |
Het |
| Adam7 |
A |
G |
14: 68,745,361 (GRCm39) |
I621T |
probably benign |
Het |
| Adamts1 |
A |
T |
16: 85,597,278 (GRCm39) |
Y260* |
probably null |
Het |
| Adgrf1 |
C |
T |
17: 43,622,054 (GRCm39) |
L764F |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Atp9b |
A |
G |
18: 80,808,984 (GRCm39) |
|
probably null |
Het |
| C5ar2 |
A |
C |
7: 15,971,540 (GRCm39) |
L129R |
probably damaging |
Het |
| Ccdc174 |
G |
A |
6: 91,867,875 (GRCm39) |
|
probably null |
Het |
| Cidec |
T |
C |
6: 113,411,695 (GRCm39) |
M1V |
probably null |
Het |
| Clec16a |
G |
T |
16: 10,456,778 (GRCm39) |
R663L |
probably damaging |
Het |
| Col25a1 |
T |
C |
3: 129,976,468 (GRCm39) |
C118R |
possibly damaging |
Het |
| Cox6b2 |
A |
G |
7: 4,755,074 (GRCm39) |
C67R |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,454,229 (GRCm39) |
I92F |
possibly damaging |
Het |
| Cwf19l2 |
A |
G |
9: 3,430,973 (GRCm39) |
Y435C |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,897,156 (GRCm39) |
S792T |
probably benign |
Het |
| Dis3l |
T |
A |
9: 64,238,190 (GRCm39) |
N101Y |
probably benign |
Het |
| Dsg4 |
A |
G |
18: 20,604,184 (GRCm39) |
T884A |
possibly damaging |
Het |
| Dvl1 |
T |
C |
4: 155,942,584 (GRCm39) |
W617R |
probably benign |
Het |
| Eml5 |
A |
G |
12: 98,768,566 (GRCm39) |
V1503A |
probably benign |
Het |
| Engase |
A |
T |
11: 118,373,497 (GRCm39) |
D280V |
probably benign |
Het |
| F11r |
T |
C |
1: 171,289,209 (GRCm39) |
S224P |
probably damaging |
Het |
| Fanca |
A |
G |
8: 124,023,045 (GRCm39) |
V564A |
probably damaging |
Het |
| Foxj2 |
G |
T |
6: 122,810,230 (GRCm39) |
Q196H |
probably benign |
Het |
| Gle1 |
T |
C |
2: 29,826,073 (GRCm39) |
W51R |
possibly damaging |
Het |
| Gm94 |
A |
G |
18: 43,925,836 (GRCm39) |
|
probably null |
Het |
| Gm9830 |
A |
T |
9: 44,375,721 (GRCm39) |
|
noncoding transcript |
Het |
| Gpaa1 |
T |
A |
15: 76,218,891 (GRCm39) |
|
probably null |
Het |
| Grin1 |
C |
T |
2: 25,182,475 (GRCm39) |
A929T |
possibly damaging |
Het |
| Grm7 |
T |
A |
6: 110,891,332 (GRCm39) |
D188E |
probably damaging |
Het |
| Gtf2ird2 |
T |
C |
5: 134,242,970 (GRCm39) |
F395L |
probably benign |
Het |
| Lipo3 |
C |
A |
19: 33,757,795 (GRCm39) |
G225C |
probably damaging |
Het |
| Lonrf2 |
T |
A |
1: 38,857,140 (GRCm39) |
|
probably null |
Het |
| Marveld2 |
A |
G |
13: 100,753,303 (GRCm39) |
|
probably benign |
Het |
| Mpl |
A |
G |
4: 118,305,777 (GRCm39) |
L416P |
probably damaging |
Het |
| Mppe1 |
A |
G |
18: 67,359,930 (GRCm39) |
L312P |
possibly damaging |
Het |
| Mpzl3 |
T |
A |
9: 44,977,730 (GRCm39) |
S113T |
probably damaging |
Het |
| Mylk3 |
G |
A |
8: 86,085,689 (GRCm39) |
Q149* |
probably null |
Het |
| Myt1 |
T |
A |
2: 181,464,470 (GRCm39) |
I968N |
probably damaging |
Het |
| Ndc80 |
A |
G |
17: 71,821,265 (GRCm39) |
Y228H |
probably damaging |
Het |
| Nelfcd |
T |
G |
2: 174,268,369 (GRCm39) |
C520G |
probably damaging |
Het |
| Nfrkb |
C |
A |
9: 31,330,345 (GRCm39) |
T1199K |
possibly damaging |
Het |
| Nipa2 |
A |
G |
7: 55,585,611 (GRCm39) |
I109T |
probably benign |
Het |
| Nsf |
A |
T |
11: 103,763,419 (GRCm39) |
I395K |
possibly damaging |
Het |
| Nt5c1b |
G |
A |
12: 10,425,449 (GRCm39) |
V331I |
probably damaging |
Het |
| Or13a28 |
A |
T |
7: 140,217,829 (GRCm39) |
I72F |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,377 (GRCm39) |
Y259H |
probably damaging |
Het |
| Pask |
T |
C |
1: 93,265,246 (GRCm39) |
D3G |
probably damaging |
Het |
| Pglyrp3 |
T |
C |
3: 91,933,037 (GRCm39) |
V110A |
possibly damaging |
Het |
| Ppp4r3a |
C |
T |
12: 101,019,825 (GRCm39) |
V377M |
probably damaging |
Het |
| Prr12 |
A |
G |
7: 44,700,749 (GRCm39) |
|
probably benign |
Het |
| Ptdss1 |
G |
A |
13: 67,135,922 (GRCm39) |
|
probably null |
Het |
| Qser1 |
A |
G |
2: 104,620,246 (GRCm39) |
S189P |
probably damaging |
Het |
| Rph3a |
T |
A |
5: 121,092,551 (GRCm39) |
Y350F |
probably benign |
Het |
| Skint4 |
A |
T |
4: 111,993,261 (GRCm39) |
H328L |
probably damaging |
Het |
| Smyd4 |
G |
A |
11: 75,282,018 (GRCm39) |
C497Y |
probably damaging |
Het |
| Stk11ip |
T |
C |
1: 75,510,497 (GRCm39) |
W864R |
possibly damaging |
Het |
| Stkld1 |
T |
A |
2: 26,841,757 (GRCm39) |
V543E |
probably damaging |
Het |
| Taok2 |
A |
G |
7: 126,469,940 (GRCm39) |
S963P |
probably damaging |
Het |
| Tars2 |
A |
G |
3: 95,653,959 (GRCm39) |
L354P |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tpcn2 |
A |
G |
7: 144,821,079 (GRCm39) |
L325P |
probably damaging |
Het |
| Trappc3l |
C |
G |
10: 33,974,807 (GRCm39) |
H96Q |
probably benign |
Het |
| Trim66 |
A |
T |
7: 109,056,796 (GRCm39) |
Y1120* |
probably null |
Het |
| Trio |
G |
A |
15: 27,881,428 (GRCm39) |
Q548* |
probably null |
Het |
| Wipf2 |
T |
A |
11: 98,781,558 (GRCm39) |
D32E |
probably benign |
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 |
|
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'- GGGAAATATGTTTCACTAAGCCAGG -3'
(R):5'- TAAGGGTCTTCAGATGCCTGC -3'
Sequencing Primer
(F):5'- ACTAAGCCAGGGGTTCCTCATTATG -3'
(R):5'- GGTGAGTGACTCTACCCTGCATAC -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation