Incidental Mutation 'R5352:Nlrp4e'
| ID |
475518 |
| 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 |
042931-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5352 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
23000617-23061702 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23052598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 839
(V839A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076470]
|
| AlphaFold |
Q66X19 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076470
AA Change: V839A
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000075794
Gene: ENSMUSG00000045693
AA Change: V839A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133392
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208495
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
T |
G |
16: 14,436,565 (GRCm39) |
L206* |
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,642,776 (GRCm39) |
Y3218C |
probably damaging |
Het |
| Agtpbp1 |
G |
A |
13: 59,621,560 (GRCm39) |
T41M |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 52,842,880 (GRCm39) |
E76V |
probably damaging |
Het |
| Ank2 |
C |
A |
3: 127,292,640 (GRCm39) |
|
probably benign |
Het |
| Atp6ap1l |
A |
C |
13: 91,031,875 (GRCm39) |
L269R |
probably damaging |
Het |
| Blk |
A |
G |
14: 63,613,420 (GRCm39) |
S363P |
probably damaging |
Het |
| Bltp3a |
G |
A |
17: 28,106,489 (GRCm39) |
S1005N |
probably benign |
Het |
| Btnl9 |
T |
C |
11: 49,069,667 (GRCm39) |
N204S |
probably benign |
Het |
| Cc2d2a |
G |
T |
5: 43,863,555 (GRCm39) |
W672C |
probably damaging |
Het |
| Ccnf |
A |
G |
17: 24,462,247 (GRCm39) |
|
probably null |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Chst1 |
A |
G |
2: 92,443,710 (GRCm39) |
T61A |
possibly damaging |
Het |
| Col6a4 |
G |
A |
9: 105,938,743 (GRCm39) |
T1325I |
probably damaging |
Het |
| Col7a1 |
A |
C |
9: 108,790,479 (GRCm39) |
T976P |
unknown |
Het |
| Corin |
C |
T |
5: 72,462,376 (GRCm39) |
S811N |
probably benign |
Het |
| Dnal1 |
T |
C |
12: 84,183,322 (GRCm39) |
V27A |
possibly damaging |
Het |
| Dusp29 |
G |
A |
14: 21,727,091 (GRCm39) |
R186W |
probably benign |
Het |
| F830045P16Rik |
T |
A |
2: 129,314,821 (GRCm39) |
H152L |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,449,317 (GRCm39) |
S1405G |
possibly damaging |
Het |
| Foxj1 |
T |
C |
11: 116,224,905 (GRCm39) |
N154S |
possibly damaging |
Het |
| Gm12183 |
T |
C |
11: 48,642,989 (GRCm39) |
|
noncoding transcript |
Het |
| Gm27047 |
G |
A |
6: 130,607,982 (GRCm39) |
|
noncoding transcript |
Het |
| Grm5 |
A |
G |
7: 87,724,058 (GRCm39) |
I783V |
probably damaging |
Het |
| Hk1 |
A |
T |
10: 62,140,549 (GRCm39) |
S113T |
probably damaging |
Het |
| Iqca1 |
A |
T |
1: 90,057,918 (GRCm39) |
N260K |
probably benign |
Het |
| Iws1 |
A |
T |
18: 32,216,457 (GRCm39) |
K399M |
probably damaging |
Het |
| Kdm4d |
A |
G |
9: 14,375,654 (GRCm39) |
I68T |
probably damaging |
Het |
| Man2a1 |
T |
C |
17: 65,038,241 (GRCm39) |
I75T |
probably damaging |
Het |
| Med13 |
T |
A |
11: 86,192,294 (GRCm39) |
I824L |
possibly damaging |
Het |
| Meioc |
A |
T |
11: 102,566,139 (GRCm39) |
E585V |
probably benign |
Het |
| Mrgpre |
A |
C |
7: 143,334,831 (GRCm39) |
F224C |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,418,295 (GRCm39) |
F3747Y |
possibly damaging |
Het |
| Nherf2 |
C |
T |
17: 24,861,229 (GRCm39) |
R66H |
probably damaging |
Het |
| Nup210 |
A |
T |
6: 91,046,298 (GRCm39) |
V545E |
probably damaging |
Het |
| Ola1 |
T |
C |
2: 72,929,674 (GRCm39) |
T310A |
probably damaging |
Het |
| Pdxdc1 |
T |
C |
16: 13,658,175 (GRCm39) |
N516S |
probably benign |
Het |
| Phlpp1 |
A |
G |
1: 106,100,455 (GRCm39) |
D241G |
probably benign |
Het |
| Ppp1r36 |
T |
C |
12: 76,474,857 (GRCm39) |
V85A |
probably damaging |
Het |
| Rasa3 |
A |
C |
8: 13,681,778 (GRCm39) |
L57R |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,417,321 (GRCm39) |
S1264G |
probably benign |
Het |
| Rprd1b |
A |
G |
2: 157,900,656 (GRCm39) |
E247G |
probably damaging |
Het |
| Sag |
G |
T |
1: 87,740,715 (GRCm39) |
V46L |
probably benign |
Het |
| Sat2 |
A |
T |
11: 69,513,141 (GRCm39) |
I17F |
probably damaging |
Het |
| Slc39a6 |
A |
T |
18: 24,734,093 (GRCm39) |
Y199N |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,330,997 (GRCm39) |
|
probably null |
Het |
| Thbs4 |
T |
C |
13: 92,900,098 (GRCm39) |
D466G |
probably damaging |
Het |
| Tmem208 |
A |
G |
8: 106,055,063 (GRCm39) |
D91G |
probably damaging |
Het |
| Tmf1 |
A |
G |
6: 97,153,770 (GRCm39) |
L101P |
probably damaging |
Het |
| Tnni1 |
A |
G |
1: 135,733,330 (GRCm39) |
T51A |
probably benign |
Het |
| Tor3a |
T |
G |
1: 156,501,763 (GRCm39) |
E38A |
probably damaging |
Het |
| Trim31 |
T |
A |
17: 37,210,810 (GRCm39) |
D147E |
possibly damaging |
Het |
| Vmn1r48 |
G |
T |
6: 90,013,129 (GRCm39) |
A232E |
probably benign |
Het |
| Vmn1r89 |
T |
G |
7: 12,953,284 (GRCm39) |
F7V |
probably benign |
Het |
| Zfp160 |
A |
G |
17: 21,247,114 (GRCm39) |
T555A |
probably benign |
Het |
| Zfp981 |
C |
A |
4: 146,621,462 (GRCm39) |
T129K |
probably benign |
Het |
| Zfpm2 |
T |
A |
15: 40,733,938 (GRCm39) |
F106I |
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 |
|
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 |
|
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'- CCACTGTTGTTGTCGATGGAC -3'
(R):5'- CACCCACCCAATATTTTCTAAGTGG -3'
Sequencing Primer
(F):5'- CATTACAGATGGTTGTGAGCACC -3'
(R):5'- CCCAATATTTTCTAAGTGGCAGTTGG -3'
|
| Posted On |
2017-05-11 |
Incidental Mutation