Incidental Mutation 'IGL02895:Endod1'
| ID |
363389 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Endod1
|
| Ensembl Gene |
ENSMUSG00000037419 |
| Gene Name |
endonuclease domain containing 1 |
| Synonyms |
2210414F18Rik, 2310067E08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL02895
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
14265286-14292538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14268166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 440
(T440S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167549]
|
| AlphaFold |
Q8C522 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167549
AA Change: T440S
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000127751
Gene: ENSMUSG00000037419
AA Change: T440S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Endonuclease_NS
|
61 |
261 |
9.04e-1 |
SMART |
|
NUC
|
62 |
264 |
1.64e-3 |
SMART |
|
coiled coil region
|
271 |
299 |
N/A |
INTRINSIC |
|
transmembrane domain
|
343 |
365 |
N/A |
INTRINSIC |
|
transmembrane domain
|
430 |
452 |
N/A |
INTRINSIC |
|
transmembrane domain
|
467 |
486 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213403
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
C |
T |
1: 179,621,376 (GRCm39) |
E130K |
probably damaging |
Het |
| Atf7ip |
C |
A |
6: 136,537,686 (GRCm39) |
S306R |
probably damaging |
Het |
| Cpd |
A |
G |
11: 76,676,029 (GRCm39) |
V1208A |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,261,591 (GRCm39) |
|
probably benign |
Het |
| Ctsl |
C |
T |
13: 64,514,326 (GRCm39) |
A195T |
probably damaging |
Het |
| Dennd2c |
T |
C |
3: 103,044,519 (GRCm39) |
Y367H |
possibly damaging |
Het |
| Gm12695 |
T |
C |
4: 96,612,186 (GRCm39) |
R526G |
probably damaging |
Het |
| Ighv1-39 |
T |
C |
12: 114,878,302 (GRCm39) |
T90A |
probably damaging |
Het |
| Kdm2a |
G |
A |
19: 4,412,930 (GRCm39) |
R19C |
probably damaging |
Het |
| Klra1 |
C |
T |
6: 130,352,203 (GRCm39) |
E180K |
possibly damaging |
Het |
| Odam |
A |
G |
5: 88,033,723 (GRCm39) |
Q21R |
probably benign |
Het |
| Or4c11c |
A |
G |
2: 88,661,986 (GRCm39) |
Y175C |
probably damaging |
Het |
| Or8b8 |
G |
A |
9: 37,809,278 (GRCm39) |
V193I |
probably benign |
Het |
| Plk1 |
A |
G |
7: 121,768,389 (GRCm39) |
E504G |
possibly damaging |
Het |
| Rtl3 |
T |
C |
X: 105,883,150 (GRCm39) |
I37M |
possibly damaging |
Het |
| Srebf2 |
A |
G |
15: 82,031,668 (GRCm39) |
E22G |
possibly damaging |
Het |
| Tmem74b |
A |
G |
2: 151,548,311 (GRCm39) |
S13G |
probably benign |
Het |
| Utp14b |
T |
C |
1: 78,642,324 (GRCm39) |
V74A |
possibly damaging |
Het |
| Znrf3 |
T |
C |
11: 5,239,085 (GRCm39) |
M93V |
probably damaging |
Het |
|
| Other mutations in Endod1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00472:Endod1
|
APN |
9 |
14,268,049 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01302:Endod1
|
APN |
9 |
14,268,535 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02994:Endod1
|
APN |
9 |
14,268,183 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03120:Endod1
|
APN |
9 |
14,268,331 (GRCm39) |
missense |
probably damaging |
0.98 |
|
royal_gorge
|
UTSW |
9 |
14,268,166 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0745:Endod1
|
UTSW |
9 |
14,268,413 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1087:Endod1
|
UTSW |
9 |
14,268,489 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1829:Endod1
|
UTSW |
9 |
14,268,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1857:Endod1
|
UTSW |
9 |
14,268,405 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2120:Endod1
|
UTSW |
9 |
14,268,949 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3906:Endod1
|
UTSW |
9 |
14,292,151 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4801:Endod1
|
UTSW |
9 |
14,268,319 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4802:Endod1
|
UTSW |
9 |
14,268,319 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5017:Endod1
|
UTSW |
9 |
14,268,187 (GRCm39) |
nonsense |
probably null |
|
|
R6027:Endod1
|
UTSW |
9 |
14,268,893 (GRCm39) |
nonsense |
probably null |
|
|
R6179:Endod1
|
UTSW |
9 |
14,268,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6279:Endod1
|
UTSW |
9 |
14,268,166 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6300:Endod1
|
UTSW |
9 |
14,268,166 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6986:Endod1
|
UTSW |
9 |
14,268,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7314:Endod1
|
UTSW |
9 |
14,268,295 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8921:Endod1
|
UTSW |
9 |
14,268,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9573:Endod1
|
UTSW |
9 |
14,292,247 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-12-18 |
Incidental Mutation