Incidental Mutation 'R8487:Nlrp4e'
| ID |
657788 |
| 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 |
067930-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8487 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
23000617-23061702 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23020983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 490
(V490A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076470]
|
| AlphaFold |
Q66X19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076470
AA Change: V490A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: V490A
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
T |
C |
3: 148,565,122 (GRCm39) |
I153V |
probably benign |
Het |
| Arhgap21 |
A |
C |
2: 20,886,116 (GRCm39) |
S354A |
probably benign |
Het |
| Bcan |
T |
C |
3: 87,896,516 (GRCm39) |
T727A |
probably damaging |
Het |
| Brinp1 |
C |
T |
4: 68,747,692 (GRCm39) |
G137E |
probably damaging |
Het |
| Catsperd |
A |
G |
17: 56,970,419 (GRCm39) |
Y697C |
probably damaging |
Het |
| Ccdc39 |
T |
A |
3: 33,886,808 (GRCm39) |
K267* |
probably null |
Het |
| Ccdc47 |
C |
A |
11: 106,092,971 (GRCm39) |
V92L |
possibly damaging |
Het |
| Cyp2c54 |
A |
T |
19: 40,059,990 (GRCm39) |
I181N |
probably damaging |
Het |
| Ddx60 |
A |
T |
8: 62,427,184 (GRCm39) |
D753V |
probably damaging |
Het |
| Dlg2 |
A |
T |
7: 91,935,796 (GRCm39) |
K641N |
probably damaging |
Het |
| Eloa |
G |
A |
4: 135,736,668 (GRCm39) |
R527C |
probably benign |
Het |
| Fancd2 |
C |
T |
6: 113,545,187 (GRCm39) |
P835L |
probably damaging |
Het |
| Fbln2 |
C |
G |
6: 91,227,846 (GRCm39) |
T428S |
probably damaging |
Het |
| Fbn2 |
G |
A |
18: 58,153,462 (GRCm39) |
A2600V |
possibly damaging |
Het |
| Gbe1 |
A |
G |
16: 70,233,876 (GRCm39) |
Y251C |
probably damaging |
Het |
| Gnptab |
T |
A |
10: 88,268,508 (GRCm39) |
|
probably null |
Het |
| Hspa1a |
T |
A |
17: 35,191,033 (GRCm39) |
|
probably benign |
Het |
| Ifi204 |
G |
A |
1: 173,587,839 (GRCm39) |
P107S |
probably damaging |
Het |
| Kif6 |
A |
G |
17: 49,978,164 (GRCm39) |
I119V |
probably damaging |
Het |
| Lmntd2 |
G |
A |
7: 140,790,427 (GRCm39) |
H554Y |
probably benign |
Het |
| Lrrc8e |
C |
A |
8: 4,284,218 (GRCm39) |
H148N |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,050,914 (GRCm39) |
N613D |
probably damaging |
Het |
| Map4k4 |
C |
T |
1: 40,028,136 (GRCm39) |
T319M |
probably damaging |
Het |
| Mbtps1 |
C |
T |
8: 120,268,413 (GRCm39) |
V253I |
probably damaging |
Het |
| Mcm4 |
C |
A |
16: 15,450,042 (GRCm39) |
C330F |
probably damaging |
Het |
| Mok |
A |
G |
12: 110,776,341 (GRCm39) |
|
probably null |
Het |
| Nedd4 |
T |
C |
9: 72,577,321 (GRCm39) |
C49R |
probably damaging |
Het |
| Nsf |
A |
T |
11: 103,819,584 (GRCm39) |
F27I |
probably damaging |
Het |
| Or10g3b |
A |
T |
14: 52,586,696 (GRCm39) |
L269Q |
probably damaging |
Het |
| Or14c44 |
A |
G |
7: 86,061,647 (GRCm39) |
S26G |
probably benign |
Het |
| Or4a47 |
T |
C |
2: 89,665,609 (GRCm39) |
N227D |
probably benign |
Het |
| Or5p73 |
G |
T |
7: 108,064,784 (GRCm39) |
M84I |
possibly damaging |
Het |
| Or6c66 |
A |
G |
10: 129,461,114 (GRCm39) |
I272T |
possibly damaging |
Het |
| Pax1 |
A |
G |
2: 147,206,968 (GRCm39) |
M1V |
probably null |
Het |
| Pcdhga12 |
A |
G |
18: 37,900,631 (GRCm39) |
T488A |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,864,909 (GRCm39) |
D99G |
possibly damaging |
Het |
| Polr3h |
T |
C |
15: 81,800,824 (GRCm39) |
T173A |
probably benign |
Het |
| Pramel6 |
C |
T |
2: 87,339,045 (GRCm39) |
L82F |
probably damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,230,463 (GRCm39) |
I1034N |
probably damaging |
Het |
| Rbfox1 |
G |
A |
16: 7,042,319 (GRCm39) |
V58I |
probably damaging |
Het |
| Reln |
T |
A |
5: 22,104,027 (GRCm39) |
I3315L |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,682,844 (GRCm39) |
S321T |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,740,292 (GRCm39) |
T3908A |
probably damaging |
Het |
| Secisbp2l |
G |
T |
2: 125,617,502 (GRCm39) |
Y58* |
probably null |
Het |
| Sgms1 |
C |
A |
19: 32,102,697 (GRCm39) |
V337L |
probably benign |
Het |
| Slc38a2 |
G |
A |
15: 96,593,172 (GRCm39) |
Q136* |
probably null |
Het |
| Smarcd1 |
T |
A |
15: 99,605,657 (GRCm39) |
V296D |
probably damaging |
Het |
| Smcr8 |
A |
C |
11: 60,674,822 (GRCm39) |
H866P |
probably damaging |
Het |
| Spcs1 |
T |
A |
14: 30,722,721 (GRCm39) |
I33L |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,688,033 (GRCm39) |
R423G |
possibly damaging |
Het |
| Syt4 |
A |
T |
18: 31,576,790 (GRCm39) |
M188K |
possibly damaging |
Het |
| Tchhl1 |
A |
G |
3: 93,376,869 (GRCm39) |
D22G |
probably damaging |
Het |
| Tiparp |
T |
A |
3: 65,453,655 (GRCm39) |
N134K |
probably benign |
Het |
| Topaz1 |
A |
G |
9: 122,579,001 (GRCm39) |
D637G |
possibly damaging |
Het |
| Trav14d-3-dv8 |
A |
T |
14: 53,316,192 (GRCm39) |
|
probably benign |
Het |
| Vmn1r19 |
A |
T |
6: 57,382,166 (GRCm39) |
M240L |
probably benign |
Het |
| Vmn1r77 |
T |
A |
7: 11,775,514 (GRCm39) |
S29T |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,881,817 (GRCm39) |
F1253L |
probably benign |
Het |
| Zfp407 |
G |
A |
18: 84,580,895 (GRCm39) |
R73* |
probably null |
Het |
| Zfp446 |
T |
A |
7: 12,716,555 (GRCm39) |
F334I |
possibly damaging |
Het |
| Zfp654 |
A |
T |
16: 64,606,011 (GRCm39) |
Y730* |
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 |
|
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 |
|
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'- AAGAAGGCTTCATCGTCCATCTC -3'
Sequencing Primer
(F):5'- CTGGACGTAAGGATCCTTGAAAAG -3'
(R):5'- GGCTTCATCGTCCATCTCAAACAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation