Incidental Mutation 'R4018:Endou'
| ID |
312039 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Endou
|
| Ensembl Gene |
ENSMUSG00000022468 |
| Gene Name |
endonuclease, polyU-specific |
| Synonyms |
Tcl-30, Pp11r |
| MMRRC Submission |
040848-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4018 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
97608896-97629220 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 97616818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 235
(K235M)
|
| 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: K235M
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023105
Gene: ENSMUSG00000022468
AA Change: K235M
| 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: K193M
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097820
Gene: ENSMUSG00000022468
AA Change: K193M
| 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
|
| Meta Mutation Damage Score |
0.2644 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.4%
|
| Validation Efficiency |
100% (33/33) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aga |
A |
G |
8: 53,976,226 (GRCm39) |
K319R |
probably benign |
Het |
| Brip1 |
G |
T |
11: 86,029,677 (GRCm39) |
T619K |
possibly damaging |
Het |
| Cd300ld2 |
G |
T |
11: 114,903,330 (GRCm39) |
|
probably benign |
Het |
| Cd300lg |
A |
G |
11: 101,932,420 (GRCm39) |
R2G |
probably damaging |
Het |
| Celsr2 |
C |
T |
3: 108,302,281 (GRCm39) |
V2616I |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,460,517 (GRCm39) |
I1160V |
probably benign |
Het |
| Edem3 |
C |
T |
1: 151,680,577 (GRCm39) |
|
probably benign |
Het |
| Gm5431 |
T |
A |
11: 48,779,995 (GRCm39) |
N309I |
probably damaging |
Het |
| Il4 |
T |
A |
11: 53,504,806 (GRCm39) |
|
probably benign |
Het |
| Iws1 |
C |
A |
18: 32,203,205 (GRCm39) |
S27* |
probably null |
Het |
| Kdm5d |
T |
C |
Y: 910,441 (GRCm39) |
|
probably benign |
Het |
| Ldb3 |
T |
C |
14: 34,274,128 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,738,438 (GRCm39) |
T284A |
probably benign |
Het |
| Maml1 |
A |
T |
11: 50,156,611 (GRCm39) |
N521K |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,161,526 (GRCm39) |
Y482H |
probably damaging |
Het |
| Notch2 |
G |
T |
3: 98,011,881 (GRCm39) |
C633F |
probably damaging |
Het |
| Oc90 |
T |
C |
15: 65,759,457 (GRCm39) |
D232G |
probably benign |
Het |
| Or5b101 |
T |
C |
19: 13,005,189 (GRCm39) |
E168G |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,625,885 (GRCm39) |
Y1717C |
unknown |
Het |
| Prkca |
T |
A |
11: 107,830,428 (GRCm39) |
I221F |
probably damaging |
Het |
| Rab3c |
T |
A |
13: 110,220,728 (GRCm39) |
K144N |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,933,300 (GRCm39) |
N57I |
probably damaging |
Het |
| Scyl3 |
A |
G |
1: 163,764,068 (GRCm39) |
T145A |
possibly damaging |
Het |
| Septin4 |
G |
A |
11: 87,475,947 (GRCm39) |
R162Q |
probably damaging |
Het |
| Slc25a39 |
A |
T |
11: 102,295,850 (GRCm39) |
L127H |
probably damaging |
Het |
| Slc9a9 |
T |
C |
9: 94,567,216 (GRCm39) |
V95A |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,844,255 (GRCm39) |
I279V |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,893 (GRCm39) |
I314V |
probably benign |
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 |
|
|
R1134:Endou
|
UTSW |
15 |
97,611,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TCACTTTGGTGATGGAGAAAGC -3'
(R):5'- ACAGACCTCAGAGTTGGCTG -3'
Sequencing Primer
(F):5'- AGCTATAGAGTTCCTTCATGACAGCC -3'
(R):5'- GCCTGGTCTACGAAGTAAATTCCAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation