Incidental Mutation 'R1134:Endou'
| ID |
94860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Endou
|
| Ensembl Gene |
ENSMUSG00000022468 |
| Gene Name |
endonuclease, polyU-specific |
| Synonyms |
Tcl-30, Pp11r |
| MMRRC Submission |
039207-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1134 (G1)
|
| Quality Score |
183 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
97608896-97629220 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97611747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 339
(V339A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023105
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023105]
[ENSMUST00000100249]
[ENSMUST00000230430]
|
| AlphaFold |
Q3V188 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023105
AA Change: V339A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023105
Gene: ENSMUSG00000022468
AA Change: V339A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
SO
|
127 |
169 |
1.93e-11 |
SMART |
|
Pfam:XendoU
|
181 |
448 |
1.4e-100 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100249
AA Change: V297A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097820
Gene: ENSMUSG00000022468
AA Change: V297A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
SO
|
20 |
62 |
8.61e-9 |
SMART |
|
SO
|
85 |
127 |
1.93e-11 |
SMART |
|
Pfam:XendoU
|
136 |
407 |
2.8e-99 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230430
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with protease activity and is expressed in the placenta. The protein may be useful as a tumor marker. Multiple alternatively spliced transcript variants have been found for this protein. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal splenic B cell numbers and activation-induced B cell apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl6 |
C |
A |
16: 23,787,115 (GRCm39) |
R595L |
probably benign |
Het |
| Cd40 |
T |
A |
2: 164,912,738 (GRCm39) |
C230S |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dusp6 |
T |
C |
10: 99,100,816 (GRCm39) |
F271L |
probably damaging |
Het |
| Erich2 |
T |
A |
2: 70,366,535 (GRCm39) |
L370* |
probably null |
Het |
| Fabp12 |
T |
C |
3: 10,312,731 (GRCm39) |
D97G |
probably benign |
Het |
| Gk5 |
A |
G |
9: 96,015,460 (GRCm39) |
N92S |
probably benign |
Het |
| Klhl28 |
A |
G |
12: 64,998,391 (GRCm39) |
S368P |
probably benign |
Het |
| Lhfpl2 |
C |
T |
13: 94,310,760 (GRCm39) |
S10L |
probably damaging |
Het |
| Morc3 |
T |
C |
16: 93,667,557 (GRCm39) |
V645A |
probably benign |
Het |
| Ms4a4d |
C |
T |
19: 11,535,298 (GRCm39) |
L199F |
possibly damaging |
Het |
| Or13p3 |
A |
G |
4: 118,567,476 (GRCm39) |
S291G |
probably damaging |
Het |
| Or8k21 |
T |
C |
2: 86,145,525 (GRCm39) |
Y35C |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,947,938 (GRCm39) |
E2313G |
probably damaging |
Het |
| Parp14 |
A |
G |
16: 35,655,272 (GRCm39) |
V1733A |
probably damaging |
Het |
| Pgap4 |
T |
C |
4: 49,586,832 (GRCm39) |
Q112R |
probably benign |
Het |
| Plcl2 |
G |
A |
17: 50,915,138 (GRCm39) |
V716I |
probably benign |
Het |
| Plekhg2 |
G |
T |
7: 28,061,426 (GRCm39) |
S816R |
probably damaging |
Het |
| Rev1 |
G |
A |
1: 38,096,768 (GRCm39) |
S810L |
probably benign |
Het |
| Tbx15 |
G |
T |
3: 99,223,639 (GRCm39) |
V276L |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,525 (GRCm39) |
D274V |
probably benign |
Het |
| Tmem225 |
T |
C |
9: 40,061,143 (GRCm39) |
L150P |
possibly damaging |
Het |
| Trpa1 |
A |
T |
1: 14,951,972 (GRCm39) |
I909N |
possibly damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Vps33a |
A |
G |
5: 123,708,975 (GRCm39) |
I80T |
probably damaging |
Het |
| Zcchc8 |
C |
G |
5: 123,855,090 (GRCm39) |
G40R |
probably damaging |
Het |
|
| Other mutations in Endou |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0364:Endou
|
UTSW |
15 |
97,616,854 (GRCm39) |
splice site |
probably benign |
|
|
R1418:Endou
|
UTSW |
15 |
97,616,854 (GRCm39) |
splice site |
probably benign |
|
|
R1896:Endou
|
UTSW |
15 |
97,610,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2960:Endou
|
UTSW |
15 |
97,611,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4018:Endou
|
UTSW |
15 |
97,616,818 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4618:Endou
|
UTSW |
15 |
97,611,763 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4754:Endou
|
UTSW |
15 |
97,624,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4807:Endou
|
UTSW |
15 |
97,629,113 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4997:Endou
|
UTSW |
15 |
97,617,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5321:Endou
|
UTSW |
15 |
97,618,913 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5470:Endou
|
UTSW |
15 |
97,616,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5604:Endou
|
UTSW |
15 |
97,618,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5764:Endou
|
UTSW |
15 |
97,612,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6114:Endou
|
UTSW |
15 |
97,611,757 (GRCm39) |
nonsense |
probably null |
|
|
R6404:Endou
|
UTSW |
15 |
97,610,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6528:Endou
|
UTSW |
15 |
97,617,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7089:Endou
|
UTSW |
15 |
97,618,126 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7103:Endou
|
UTSW |
15 |
97,616,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7382:Endou
|
UTSW |
15 |
97,616,807 (GRCm39) |
nonsense |
probably null |
|
|
R7707:Endou
|
UTSW |
15 |
97,610,983 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7759:Endou
|
UTSW |
15 |
97,611,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9294:Endou
|
UTSW |
15 |
97,609,946 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9300:Endou
|
UTSW |
15 |
97,610,954 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9544:Endou
|
UTSW |
15 |
97,609,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGCCTTGACCCTTGACCTTGAC -3'
(R):5'- AGCCTGGCTTGATCCTTCACAAAC -3'
Sequencing Primer
(F):5'- TCTGCTCTCTAACAGATGAGGAC -3'
(R):5'- AGTCTCCTGAGGTCATGAGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation