Incidental Mutation 'R5521:Nlrp4e'
| ID |
431543 |
| 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 |
043080-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5521 (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 23021190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 559
(D559V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076470]
|
| AlphaFold |
Q66X19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076470
AA Change: D559V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: D559V
| 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: 97.5%
- 10x: 94.4%
- 20x: 87.5%
|
| Validation Efficiency |
94% (72/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
G |
9: 44,190,980 (GRCm39) |
|
probably benign |
Het |
| Abhd14a |
G |
T |
9: 106,321,033 (GRCm39) |
D107E |
probably damaging |
Het |
| Acat1 |
T |
A |
9: 53,494,807 (GRCm39) |
K362* |
probably null |
Het |
| Adad2 |
T |
A |
8: 120,339,528 (GRCm39) |
S3R |
probably benign |
Het |
| Adcy8 |
C |
A |
15: 64,687,199 (GRCm39) |
R435M |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,567,508 (GRCm39) |
S5222T |
probably benign |
Het |
| Ankk1 |
A |
T |
9: 49,331,748 (GRCm39) |
M182K |
probably benign |
Het |
| Apba1 |
C |
T |
19: 23,870,957 (GRCm39) |
P263L |
probably damaging |
Het |
| Arhgap39 |
G |
A |
15: 76,649,694 (GRCm39) |
S26L |
possibly damaging |
Het |
| Ccng1 |
G |
A |
11: 40,643,093 (GRCm39) |
T118I |
possibly damaging |
Het |
| Cenpe |
T |
C |
3: 134,974,826 (GRCm39) |
S2329P |
probably damaging |
Het |
| Chil4 |
A |
G |
3: 106,111,013 (GRCm39) |
Y294H |
possibly damaging |
Het |
| Chst8 |
A |
C |
7: 34,374,670 (GRCm39) |
S390A |
probably benign |
Het |
| Dars1 |
T |
C |
1: 128,301,710 (GRCm39) |
D308G |
probably benign |
Het |
| Dlec1 |
A |
C |
9: 118,972,469 (GRCm39) |
Q1458P |
possibly damaging |
Het |
| Dvl2 |
G |
A |
11: 69,897,233 (GRCm39) |
E312K |
probably damaging |
Het |
| Fchsd1 |
T |
C |
18: 38,099,537 (GRCm39) |
H219R |
probably damaging |
Het |
| Foxd4 |
A |
C |
19: 24,877,007 (GRCm39) |
C398G |
probably damaging |
Het |
| Gm10719 |
T |
A |
9: 3,018,970 (GRCm39) |
F72I |
probably damaging |
Het |
| Gm5414 |
T |
C |
15: 101,536,422 (GRCm39) |
I68V |
probably benign |
Het |
| Gmip |
C |
T |
8: 70,270,049 (GRCm39) |
T684I |
probably damaging |
Het |
| Gpr137c |
T |
C |
14: 45,516,151 (GRCm39) |
I295T |
possibly damaging |
Het |
| Hivep1 |
T |
A |
13: 42,311,804 (GRCm39) |
M1348K |
probably damaging |
Het |
| Igkv6-23 |
T |
C |
6: 70,237,597 (GRCm39) |
D48G |
probably benign |
Het |
| Il3 |
G |
A |
11: 54,157,958 (GRCm39) |
T40M |
possibly damaging |
Het |
| Ing2 |
T |
C |
8: 48,122,248 (GRCm39) |
E100G |
probably damaging |
Het |
| Itpr3 |
C |
A |
17: 27,326,308 (GRCm39) |
H1359Q |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,087,889 (GRCm39) |
Y1502* |
probably null |
Het |
| Mamdc2 |
C |
A |
19: 23,288,302 (GRCm39) |
G579W |
probably damaging |
Het |
| Mapk6 |
G |
A |
9: 75,300,598 (GRCm39) |
|
probably benign |
Het |
| Mapk8ip2 |
C |
T |
15: 89,343,007 (GRCm39) |
R616W |
probably damaging |
Het |
| Mc5r |
T |
A |
18: 68,472,748 (GRCm39) |
L369H |
possibly damaging |
Het |
| Meis1 |
T |
C |
11: 18,938,260 (GRCm39) |
|
probably benign |
Het |
| Mmp8 |
A |
G |
9: 7,560,644 (GRCm39) |
K107R |
probably benign |
Het |
| Mn1 |
C |
T |
5: 111,569,635 (GRCm39) |
H1202Y |
possibly damaging |
Het |
| Naip2 |
A |
G |
13: 100,291,422 (GRCm39) |
L1172P |
probably damaging |
Het |
| Nek9 |
C |
T |
12: 85,374,219 (GRCm39) |
D273N |
probably benign |
Het |
| Nlrp4g |
T |
C |
9: 124,350,020 (GRCm38) |
|
noncoding transcript |
Het |
| Oit3 |
G |
T |
10: 59,271,736 (GRCm39) |
A207E |
probably benign |
Het |
| Or13j1 |
A |
T |
4: 43,705,788 (GRCm39) |
M260K |
possibly damaging |
Het |
| Or14a257 |
A |
T |
7: 86,137,839 (GRCm39) |
C307S |
probably benign |
Het |
| Or4d2b |
A |
T |
11: 87,780,545 (GRCm39) |
M59K |
probably damaging |
Het |
| Or5w16 |
A |
G |
2: 87,577,406 (GRCm39) |
I289V |
probably benign |
Het |
| Pde4c |
T |
C |
8: 71,200,031 (GRCm39) |
|
probably null |
Het |
| Ppp1r26 |
A |
G |
2: 28,341,438 (GRCm39) |
E356G |
probably benign |
Het |
| Pramel13 |
A |
G |
4: 144,122,541 (GRCm39) |
M1T |
probably null |
Het |
| Ptges3-ps |
T |
A |
6: 85,821,303 (GRCm39) |
|
noncoding transcript |
Het |
| Ptpn13 |
T |
G |
5: 103,649,294 (GRCm39) |
F232L |
probably benign |
Het |
| Reps1 |
T |
C |
10: 17,979,982 (GRCm39) |
S114P |
probably damaging |
Het |
| Scarf2 |
T |
A |
16: 17,621,466 (GRCm39) |
|
probably null |
Het |
| Sdha |
A |
T |
13: 74,498,218 (GRCm39) |
|
probably benign |
Het |
| Secisbp2l |
A |
T |
2: 125,594,897 (GRCm39) |
V146D |
possibly damaging |
Het |
| Slc26a8 |
T |
A |
17: 28,873,833 (GRCm39) |
T385S |
probably benign |
Het |
| Slc4a1 |
G |
A |
11: 102,244,092 (GRCm39) |
T679M |
probably benign |
Het |
| Tbc1d14 |
T |
A |
5: 36,677,896 (GRCm39) |
E353V |
probably damaging |
Het |
| Thap2 |
T |
A |
10: 115,208,665 (GRCm39) |
K152* |
probably null |
Het |
| Thbd |
A |
T |
2: 148,249,655 (GRCm39) |
I71N |
probably damaging |
Het |
| V1ra8 |
T |
A |
6: 90,180,036 (GRCm39) |
W80R |
probably damaging |
Het |
| Vmn1r218 |
A |
G |
13: 23,320,743 (GRCm39) |
Y30C |
probably benign |
Het |
| Vmn2r60 |
C |
A |
7: 41,845,049 (GRCm39) |
T804K |
probably damaging |
Het |
| Vmn2r68 |
A |
T |
7: 84,882,926 (GRCm39) |
D275E |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,858,721 (GRCm39) |
I2724V |
probably benign |
Het |
| Xrcc5 |
C |
A |
1: 72,385,430 (GRCm39) |
P507Q |
probably damaging |
Het |
| Zfp120 |
A |
T |
2: 149,959,499 (GRCm39) |
Y274* |
probably null |
Het |
| Zfp780b |
C |
A |
7: 27,674,173 (GRCm39) |
|
probably null |
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 |
|
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'- TCCTAGCCAGGATGTCAAAAG -3'
(R):5'- GGACTCACGTATAGCTGTGTTC -3'
Sequencing Primer
(F):5'- TCCTAGCCAGGATGTCAAAAGTATAG -3'
(R):5'- GACTCACGTATAGCTGTGTTCTTGAC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation