Incidental Mutation 'R1518:Nlrp4e'
| ID |
167182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nlrp4e
|
| Ensembl Gene |
ENSMUSG00000045693 |
| Gene Name |
NLR family, pyrin domain containing 4E |
| Synonyms |
4930406H16Rik, Nalp4e, Nalp-epsilon |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1518 (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 C
at 23021268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 585
(I585T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076470]
|
| AlphaFold |
Q66X19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076470
AA Change: I585T
PolyPhen 2
Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: I585T
| 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: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
T |
A |
9: 44,186,666 (GRCm39) |
M493L |
probably benign |
Het |
| Abtb2 |
G |
A |
2: 103,539,629 (GRCm39) |
V665I |
probably benign |
Het |
| Adamtsl1 |
C |
G |
4: 86,260,840 (GRCm39) |
S1017W |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,821,469 (GRCm39) |
T623A |
possibly damaging |
Het |
| Alox5 |
A |
G |
6: 116,390,741 (GRCm39) |
F470S |
probably damaging |
Het |
| Angpt2 |
T |
C |
8: 18,755,855 (GRCm39) |
E204G |
probably benign |
Het |
| Apip |
A |
G |
2: 102,919,838 (GRCm39) |
E138G |
probably damaging |
Het |
| Apob |
C |
T |
12: 8,039,207 (GRCm39) |
T466M |
probably benign |
Het |
| Atp2b3 |
GACAACA |
GACA |
X: 72,588,729 (GRCm39) |
|
probably benign |
Het |
| Atxn7l3 |
A |
T |
11: 102,185,340 (GRCm39) |
D56E |
probably benign |
Het |
| Cacna1s |
C |
T |
1: 136,026,289 (GRCm39) |
A1092V |
probably damaging |
Het |
| Calr3 |
A |
G |
8: 73,181,044 (GRCm39) |
F183L |
probably damaging |
Het |
| Cd300lb |
T |
A |
11: 114,816,877 (GRCm39) |
D55V |
probably benign |
Het |
| Chid1 |
A |
C |
7: 141,108,384 (GRCm39) |
V145G |
probably damaging |
Het |
| Chst15 |
T |
C |
7: 131,871,855 (GRCm39) |
N142S |
probably damaging |
Het |
| Cnot4 |
C |
T |
6: 35,028,389 (GRCm39) |
R409Q |
probably damaging |
Het |
| Cope |
T |
G |
8: 70,765,411 (GRCm39) |
I287S |
possibly damaging |
Het |
| Cpd |
A |
T |
11: 76,731,212 (GRCm39) |
|
probably null |
Het |
| Cux1 |
G |
T |
5: 136,337,133 (GRCm39) |
T785K |
probably benign |
Het |
| Dennd2b |
A |
G |
7: 109,156,562 (GRCm39) |
S63P |
probably damaging |
Het |
| Dthd1 |
T |
C |
5: 62,979,383 (GRCm39) |
S348P |
probably damaging |
Het |
| Eno3 |
G |
T |
11: 70,551,903 (GRCm39) |
E64* |
probably null |
Het |
| Entpd1 |
T |
A |
19: 40,713,507 (GRCm39) |
Y184* |
probably null |
Het |
| Erv3 |
A |
T |
2: 131,698,083 (GRCm39) |
M92K |
probably benign |
Het |
| Flg2 |
T |
A |
3: 93,110,445 (GRCm39) |
H824Q |
unknown |
Het |
| Fndc9 |
G |
A |
11: 46,128,930 (GRCm39) |
G150S |
probably benign |
Het |
| Gdap1 |
G |
A |
1: 17,217,169 (GRCm39) |
V43I |
possibly damaging |
Het |
| Ifi213 |
C |
A |
1: 173,417,229 (GRCm39) |
L394F |
probably damaging |
Het |
| Ift88 |
A |
G |
14: 57,668,085 (GRCm39) |
T29A |
possibly damaging |
Het |
| Kdm4c |
A |
T |
4: 74,252,063 (GRCm39) |
I437L |
probably benign |
Het |
| Kras |
T |
A |
6: 145,177,977 (GRCm39) |
E98D |
probably benign |
Het |
| Lcorl |
C |
A |
5: 45,891,543 (GRCm39) |
R353I |
possibly damaging |
Het |
| Lrrc4c |
A |
G |
2: 97,460,921 (GRCm39) |
I516V |
probably benign |
Het |
| Lrrc51 |
T |
C |
7: 101,564,803 (GRCm39) |
D85G |
probably damaging |
Het |
| Lypd6b |
G |
A |
2: 49,837,504 (GRCm39) |
A159T |
probably damaging |
Het |
| Magel2 |
G |
A |
7: 62,030,188 (GRCm39) |
V1031I |
unknown |
Het |
| Man1c1 |
A |
T |
4: 134,308,100 (GRCm39) |
N338K |
probably benign |
Het |
| Mdn1 |
C |
A |
4: 32,739,977 (GRCm39) |
Q3744K |
probably damaging |
Het |
| Micu3 |
G |
T |
8: 40,788,893 (GRCm39) |
A135S |
possibly damaging |
Het |
| Muc4 |
T |
C |
16: 32,569,167 (GRCm39) |
S76P |
possibly damaging |
Het |
| Nin |
T |
G |
12: 70,061,547 (GRCm39) |
T2106P |
probably benign |
Het |
| Npy1r |
C |
T |
8: 67,156,847 (GRCm39) |
A89V |
probably benign |
Het |
| Or11g27 |
T |
C |
14: 50,771,622 (GRCm39) |
V251A |
probably damaging |
Het |
| Or4c115 |
G |
A |
2: 88,927,944 (GRCm39) |
A109V |
probably benign |
Het |
| Or52ae7 |
T |
A |
7: 103,119,249 (GRCm39) |
M1K |
probably null |
Het |
| Or52n3 |
T |
A |
7: 104,530,515 (GRCm39) |
Y200* |
probably null |
Het |
| Or5w13 |
A |
T |
2: 87,523,872 (GRCm39) |
M118K |
probably damaging |
Het |
| Parp14 |
T |
G |
16: 35,677,008 (GRCm39) |
T987P |
possibly damaging |
Het |
| Pde7b |
A |
T |
10: 20,423,867 (GRCm39) |
V3E |
probably damaging |
Het |
| Pdlim7 |
G |
T |
13: 55,656,107 (GRCm39) |
Y104* |
probably null |
Het |
| Pgm2l1 |
A |
G |
7: 99,910,932 (GRCm39) |
K292R |
probably benign |
Het |
| Plec |
T |
C |
15: 76,072,401 (GRCm39) |
E728G |
probably damaging |
Het |
| Plppr4 |
T |
C |
3: 117,129,152 (GRCm39) |
Y105C |
probably damaging |
Het |
| Polr1c |
A |
T |
17: 46,558,821 (GRCm39) |
N23K |
possibly damaging |
Het |
| Ppp5c |
A |
T |
7: 16,743,861 (GRCm39) |
M191K |
probably damaging |
Het |
| Prkca |
T |
C |
11: 107,869,142 (GRCm39) |
D57G |
probably damaging |
Het |
| Prkcb |
A |
G |
7: 122,143,854 (GRCm39) |
|
probably null |
Het |
| Prl6a1 |
A |
T |
13: 27,502,911 (GRCm39) |
Q169L |
probably null |
Het |
| Prl6a1 |
C |
A |
13: 27,502,910 (GRCm39) |
Q169K |
possibly damaging |
Het |
| Psmd14 |
G |
A |
2: 61,591,335 (GRCm39) |
R46H |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Ramp2 |
A |
G |
11: 101,138,408 (GRCm39) |
T22A |
probably benign |
Het |
| Rbm19 |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
5: 120,278,345 (GRCm39) |
|
probably benign |
Het |
| Rbm25 |
A |
T |
12: 83,715,219 (GRCm39) |
E463D |
possibly damaging |
Het |
| Retnlb |
A |
G |
16: 48,637,678 (GRCm39) |
I35V |
probably benign |
Het |
| Sestd1 |
A |
G |
2: 77,071,976 (GRCm39) |
Y49H |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,431,306 (GRCm39) |
I2378N |
probably damaging |
Het |
| Slc26a1 |
A |
T |
5: 108,819,740 (GRCm39) |
C486* |
probably null |
Het |
| Spef2 |
T |
A |
15: 9,667,316 (GRCm39) |
I791F |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,650,798 (GRCm39) |
T1726A |
possibly damaging |
Het |
| Stk38l |
T |
A |
6: 146,673,129 (GRCm39) |
M296K |
probably benign |
Het |
| Taf5 |
T |
C |
19: 47,070,285 (GRCm39) |
F624L |
probably damaging |
Het |
| Tmem30c |
G |
T |
16: 57,086,855 (GRCm39) |
T316K |
probably damaging |
Het |
| Trpm2 |
A |
G |
10: 77,778,839 (GRCm39) |
S376P |
possibly damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,214,702 (GRCm39) |
L228F |
probably damaging |
Het |
| Zfp607b |
G |
A |
7: 27,398,087 (GRCm39) |
C57Y |
possibly damaging |
Het |
| Zfp983 |
A |
G |
17: 21,881,269 (GRCm39) |
H399R |
probably damaging |
Het |
| Zfp984 |
A |
T |
4: 147,840,002 (GRCm39) |
M283K |
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 |
|
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 |
|
|
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'- GCCTGGAAACCATAAGTGGCAATAAAGA -3'
(R):5'- CCAGGGCTCAAAATGGAACCTGT -3'
Sequencing Primer
(F):5'- CCATAAGTGGCAATAAAGAGCTTC -3'
(R):5'- atacacatacacatacacacaacc -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation