Incidental Mutation 'R9379:Nlrp4e'
| ID |
709859 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9379 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
23000617-23061702 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 23020755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glycine
at position 414
(A414G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076470]
|
| AlphaFold |
Q66X19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076470
AA Change: A414G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: A414G
| 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: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
T |
4: 39,451,201 (GRCm39) |
I136F |
possibly damaging |
Het |
| 1700019D03Rik |
T |
A |
1: 52,964,635 (GRCm39) |
D31V |
probably benign |
Het |
| Abca14 |
G |
T |
7: 119,807,202 (GRCm39) |
E83* |
probably null |
Het |
| Abcc5 |
T |
C |
16: 20,152,437 (GRCm39) |
T1370A |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,777,680 (GRCm39) |
V1621A |
probably benign |
Het |
| Ano8 |
T |
A |
8: 71,936,178 (GRCm39) |
Q206L |
probably benign |
Het |
| Aox3 |
A |
T |
1: 58,208,959 (GRCm39) |
I831F |
possibly damaging |
Het |
| Atp2a2 |
T |
C |
5: 122,611,315 (GRCm39) |
I168V |
probably benign |
Het |
| Atxn2 |
G |
A |
5: 121,885,509 (GRCm39) |
V239I |
probably damaging |
Het |
| B230219D22Rik |
C |
A |
13: 55,847,283 (GRCm39) |
A132E |
probably damaging |
Het |
| Btbd17 |
C |
A |
11: 114,682,749 (GRCm39) |
W321L |
possibly damaging |
Het |
| Cacna1i |
T |
A |
15: 80,259,495 (GRCm39) |
V1255E |
probably damaging |
Het |
| Camsap1 |
T |
C |
2: 25,846,318 (GRCm39) |
I132V |
|
Het |
| Chd7 |
A |
G |
4: 8,752,210 (GRCm39) |
S236G |
unknown |
Het |
| Clasp1 |
CCTGCTGCTGCTGCTG |
CCTGCTGCTGCTGCTGCTG |
1: 118,509,157 (GRCm39) |
|
probably benign |
Het |
| Clasp1 |
TGC |
TGCCGC |
1: 118,509,168 (GRCm39) |
|
probably benign |
Het |
| Col4a1 |
T |
A |
8: 11,249,838 (GRCm39) |
H1658L |
unknown |
Het |
| D630044L22Rik |
A |
G |
17: 26,180,856 (GRCm39) |
H102R |
possibly damaging |
Het |
| Dact3 |
G |
A |
7: 16,620,013 (GRCm39) |
V503I |
unknown |
Het |
| Dcn |
G |
T |
10: 97,343,643 (GRCm39) |
R201L |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,024,567 (GRCm39) |
V1747A |
possibly damaging |
Het |
| Dnajc14 |
T |
A |
10: 128,652,743 (GRCm39) |
|
probably null |
Het |
| Dspp |
A |
T |
5: 104,322,760 (GRCm39) |
|
probably null |
Het |
| Ep300 |
T |
C |
15: 81,532,760 (GRCm39) |
V1666A |
unknown |
Het |
| Flvcr2 |
A |
G |
12: 85,850,000 (GRCm39) |
I429V |
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,373,042 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
G |
T |
10: 119,780,961 (GRCm39) |
L203F |
probably damaging |
Het |
| Hoga1 |
T |
C |
19: 42,051,697 (GRCm39) |
L250P |
probably damaging |
Het |
| Htr2b |
A |
G |
1: 86,027,844 (GRCm39) |
S221P |
probably damaging |
Het |
| Ighv1-24 |
T |
C |
12: 114,736,663 (GRCm39) |
Y79C |
possibly damaging |
Het |
| Katnip |
T |
C |
7: 125,469,848 (GRCm39) |
L1439P |
probably damaging |
Het |
| Kcnq1 |
A |
G |
7: 142,745,169 (GRCm39) |
T311A |
probably damaging |
Het |
| Kif21a |
C |
T |
15: 90,854,030 (GRCm39) |
R779Q |
probably damaging |
Het |
| Lilra6 |
T |
C |
7: 3,916,166 (GRCm39) |
E231G |
probably damaging |
Het |
| Lrrc8c |
T |
A |
5: 105,756,356 (GRCm39) |
Y710* |
probably null |
Het |
| Mixl1 |
A |
G |
1: 180,522,258 (GRCm39) |
S208P |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,557,467 (GRCm39) |
Q2942L |
unknown |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Nup85 |
T |
C |
11: 115,469,424 (GRCm39) |
I322T |
probably benign |
Het |
| Odad1 |
A |
G |
7: 45,597,116 (GRCm39) |
T456A |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,265,089 (GRCm39) |
D426G |
possibly damaging |
Het |
| Or10n7-ps1 |
A |
G |
9: 39,598,114 (GRCm39) |
L42P |
probably damaging |
Het |
| Or7e169 |
T |
A |
9: 19,757,212 (GRCm39) |
K234N |
possibly damaging |
Het |
| Or8b4 |
C |
T |
9: 37,830,447 (GRCm39) |
L165F |
probably damaging |
Het |
| Or9k2b |
A |
G |
10: 130,016,605 (GRCm39) |
M48T |
possibly damaging |
Het |
| Osbpl9 |
A |
T |
4: 108,940,399 (GRCm39) |
H178Q |
probably damaging |
Het |
| Parp14 |
A |
G |
16: 35,680,853 (GRCm39) |
V260A |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,492,474 (GRCm39) |
T1777I |
probably damaging |
Het |
| Ppp3cb |
T |
C |
14: 20,581,874 (GRCm39) |
D47G |
probably benign |
Het |
| Pram1 |
T |
C |
17: 33,860,441 (GRCm39) |
V336A |
probably damaging |
Het |
| Prl |
T |
A |
13: 27,243,503 (GRCm39) |
I58N |
probably damaging |
Het |
| Qrich2 |
T |
C |
11: 116,348,934 (GRCm39) |
D630G |
unknown |
Het |
| Ralgapa1 |
G |
C |
12: 55,769,583 (GRCm39) |
P803A |
probably damaging |
Het |
| Rtcb |
A |
T |
10: 85,779,071 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
C |
T |
13: 11,898,002 (GRCm39) |
C131Y |
probably damaging |
Het |
| Spata7 |
A |
G |
12: 98,600,548 (GRCm39) |
I54V |
probably benign |
Het |
| St6galnac3 |
A |
G |
3: 153,215,070 (GRCm39) |
V28A |
probably benign |
Het |
| Stra6l |
A |
T |
4: 45,849,093 (GRCm39) |
T6S |
probably benign |
Het |
| Taf4b |
C |
T |
18: 14,946,431 (GRCm39) |
T418M |
probably damaging |
Het |
| Taf6 |
A |
G |
5: 138,181,952 (GRCm39) |
I92T |
possibly damaging |
Het |
| Tcaf2 |
C |
T |
6: 42,619,517 (GRCm39) |
S170N |
probably benign |
Het |
| Tfrc |
A |
G |
16: 32,443,819 (GRCm39) |
D541G |
probably damaging |
Het |
| Trav13n-3 |
T |
G |
14: 53,574,853 (GRCm39) |
L32V |
probably damaging |
Het |
| Trpa1 |
T |
C |
1: 14,966,739 (GRCm39) |
T542A |
possibly damaging |
Het |
| Ttc39b |
A |
T |
4: 83,189,376 (GRCm39) |
S53T |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,936,288 (GRCm39) |
Y1271C |
possibly damaging |
Het |
| Ubap2 |
A |
T |
4: 41,216,630 (GRCm39) |
S268T |
possibly damaging |
Het |
| Usp40 |
A |
G |
1: 87,881,889 (GRCm39) |
V998A |
probably benign |
Het |
| Usp44 |
T |
A |
10: 93,688,635 (GRCm39) |
I562K |
possibly damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,496,066 (GRCm39) |
T553A |
probably damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,596,650 (GRCm39) |
V135A |
probably damaging |
Het |
| Wbp2nl |
T |
A |
15: 82,198,311 (GRCm39) |
S283T |
possibly damaging |
Het |
| Wnk1 |
G |
A |
6: 119,928,678 (GRCm39) |
T1092I |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2022-04-18 |
Incidental Mutation