Incidental Mutation 'R4728:Nlrp4e'
| ID |
358600 |
| 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 |
042020-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4728 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
23000617-23061702 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23020989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 492
(I492K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076470]
|
| AlphaFold |
Q66X19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076470
AA Change: I492K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: I492K
| 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: 94.3%
|
| Validation Efficiency |
94% (73/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bicc1 |
C |
T |
10: 70,771,661 (GRCm39) |
|
probably null |
Het |
| Bpifc |
T |
A |
10: 85,827,063 (GRCm39) |
H162L |
possibly damaging |
Het |
| Ccdc163 |
C |
T |
4: 116,566,209 (GRCm39) |
|
probably benign |
Het |
| Cldn12 |
A |
G |
5: 5,558,385 (GRCm39) |
F14S |
probably damaging |
Het |
| Cyth4 |
G |
A |
15: 78,486,913 (GRCm39) |
G14R |
probably benign |
Het |
| Ddhd2 |
C |
T |
8: 26,242,294 (GRCm39) |
V194I |
probably damaging |
Het |
| Ddx23 |
A |
T |
15: 98,548,106 (GRCm39) |
V433E |
probably damaging |
Het |
| Defb34 |
A |
G |
8: 19,176,434 (GRCm39) |
N42D |
possibly damaging |
Het |
| Dennd6a |
A |
G |
14: 26,348,575 (GRCm39) |
E313G |
probably null |
Het |
| Dhx30 |
A |
G |
9: 109,916,718 (GRCm39) |
F570S |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,658,589 (GRCm39) |
E864G |
probably damaging |
Het |
| Eps8 |
G |
A |
6: 137,486,160 (GRCm39) |
Q451* |
probably null |
Het |
| Fmo9 |
A |
T |
1: 166,490,880 (GRCm39) |
Y533N |
possibly damaging |
Het |
| Fut8 |
T |
A |
12: 77,521,973 (GRCm39) |
D537E |
probably damaging |
Het |
| Gm5407 |
T |
C |
16: 49,117,283 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9916 |
A |
G |
3: 118,228,690 (GRCm39) |
|
noncoding transcript |
Het |
| Grm5 |
T |
A |
7: 87,624,496 (GRCm39) |
F354L |
probably damaging |
Het |
| Hira |
C |
T |
16: 18,741,654 (GRCm39) |
A353V |
probably damaging |
Het |
| Ifna4 |
C |
A |
4: 88,760,519 (GRCm39) |
T141K |
probably benign |
Het |
| Igf1r |
T |
C |
7: 67,839,372 (GRCm39) |
L628P |
probably damaging |
Het |
| Kcnh5 |
A |
T |
12: 75,054,555 (GRCm39) |
I463N |
probably damaging |
Het |
| Kcnh8 |
C |
A |
17: 53,032,898 (GRCm39) |
Q62K |
probably damaging |
Het |
| Kif3c |
A |
T |
12: 3,415,873 (GRCm39) |
|
probably benign |
Het |
| Kmo |
A |
G |
1: 175,484,329 (GRCm39) |
D353G |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,399,606 (GRCm39) |
T2301A |
probably damaging |
Het |
| Lrrc7 |
GAAGTTGTTTGGAGATTCTTATCTTA |
GA |
3: 158,024,045 (GRCm39) |
|
probably benign |
Het |
| Map3k9 |
C |
T |
12: 81,769,147 (GRCm39) |
R967Q |
probably damaging |
Het |
| Mcm8 |
A |
G |
2: 132,674,774 (GRCm39) |
H414R |
probably damaging |
Het |
| Mier1 |
A |
G |
4: 102,997,402 (GRCm39) |
E145G |
probably damaging |
Het |
| Mlc1 |
A |
T |
15: 88,862,234 (GRCm39) |
|
probably null |
Het |
| Napb |
T |
C |
2: 148,551,245 (GRCm39) |
D96G |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,338,740 (GRCm39) |
S193R |
probably damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,174,515 (GRCm39) |
V967A |
probably benign |
Het |
| Notch4 |
A |
G |
17: 34,789,179 (GRCm39) |
T497A |
probably benign |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Ogdh |
T |
A |
11: 6,292,549 (GRCm39) |
Y417N |
probably damaging |
Het |
| Or5w19 |
T |
C |
2: 87,698,779 (GRCm39) |
V148A |
probably benign |
Het |
| Ovol1 |
A |
T |
19: 5,603,690 (GRCm39) |
Y70* |
probably null |
Het |
| P2ry1 |
A |
G |
3: 60,911,641 (GRCm39) |
Y260C |
probably damaging |
Het |
| Pcx |
G |
T |
19: 4,653,124 (GRCm39) |
R263L |
probably damaging |
Het |
| Pla2g4f |
T |
A |
2: 120,131,402 (GRCm39) |
T774S |
probably benign |
Het |
| Prdm15 |
T |
G |
16: 97,622,986 (GRCm39) |
K289Q |
probably benign |
Het |
| Prl7c1 |
A |
T |
13: 27,960,268 (GRCm39) |
H91Q |
probably benign |
Het |
| Prmt5 |
C |
T |
14: 54,745,364 (GRCm39) |
R601H |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,120,637 (GRCm39) |
D2192E |
probably damaging |
Het |
| Ptdss2 |
A |
G |
7: 140,734,372 (GRCm39) |
I299V |
probably benign |
Het |
| Rbm28 |
A |
G |
6: 29,143,591 (GRCm39) |
V354A |
probably damaging |
Het |
| Rps6kb1 |
G |
C |
11: 86,435,484 (GRCm39) |
|
probably null |
Het |
| Sema3f |
A |
G |
9: 107,582,639 (GRCm39) |
S35P |
probably benign |
Het |
| Serpina3n |
A |
T |
12: 104,375,422 (GRCm39) |
T165S |
probably benign |
Het |
| Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
| Sh2d4b |
T |
A |
14: 40,564,389 (GRCm39) |
R267* |
probably null |
Het |
| Slc5a12 |
A |
T |
2: 110,474,769 (GRCm39) |
K554* |
probably null |
Het |
| Snrnp200 |
T |
C |
2: 127,059,334 (GRCm39) |
L409P |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,069,798 (GRCm39) |
V981E |
possibly damaging |
Het |
| Spon2 |
T |
A |
5: 33,374,682 (GRCm39) |
R41S |
probably benign |
Het |
| Sptb |
A |
T |
12: 76,630,153 (GRCm39) |
M2279K |
probably benign |
Het |
| Srcap |
T |
G |
7: 127,140,096 (GRCm39) |
|
probably null |
Het |
| Tctn3 |
A |
G |
19: 40,594,186 (GRCm39) |
V409A |
probably damaging |
Het |
| Tg |
A |
C |
15: 66,554,676 (GRCm39) |
Q697P |
probably damaging |
Het |
| Tmem181a |
A |
G |
17: 6,340,874 (GRCm39) |
D141G |
probably benign |
Het |
| Tmem82 |
A |
G |
4: 141,341,963 (GRCm39) |
S334P |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,151,190 (GRCm39) |
Y1875C |
probably damaging |
Het |
| Vmn1r63 |
C |
A |
7: 5,806,362 (GRCm39) |
R90L |
probably damaging |
Het |
| Zfp330 |
A |
C |
8: 83,497,475 (GRCm39) |
Y56D |
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 |
|
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'- TGCTGGACGTAAGGATCCTTG -3'
(R):5'- AAGAAGGCTTCATCGTCCATC -3'
Sequencing Primer
(F):5'- CTGGACGTAAGGATCCTTGAAAAG -3'
(R):5'- GGCTTCATCGTCCATCTCAAACAG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation