Incidental Mutation 'IGL03120:Endod1'
| ID |
409955 |
| 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 # |
IGL03120
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
14265286-14292538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 14268331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 385
(V385F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167549]
|
| AlphaFold |
Q8C522 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167549
AA Change: V385F
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127751
Gene: ENSMUSG00000037419
AA Change: V385F
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059G10Rik |
A |
G |
9: 122,778,118 (GRCm39) |
L42P |
probably benign |
Het |
| Cacna1e |
T |
C |
1: 154,319,627 (GRCm39) |
I1420V |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,518,032 (GRCm39) |
Y263C |
probably damaging |
Het |
| Cyp4f15 |
A |
T |
17: 32,909,738 (GRCm39) |
I112F |
probably damaging |
Het |
| Dach1 |
T |
C |
14: 98,065,225 (GRCm39) |
E724G |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,101,008 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,312,674 (GRCm39) |
E4297V |
probably damaging |
Het |
| Dot1l |
A |
G |
10: 80,622,107 (GRCm39) |
|
probably benign |
Het |
| Etnppl |
A |
G |
3: 130,414,341 (GRCm39) |
T73A |
probably damaging |
Het |
| Frmd4b |
T |
A |
6: 97,373,206 (GRCm39) |
D104V |
possibly damaging |
Het |
| Gp5 |
T |
C |
16: 30,127,016 (GRCm39) |
I553V |
possibly damaging |
Het |
| Gpc5 |
A |
G |
14: 115,607,556 (GRCm39) |
E386G |
possibly damaging |
Het |
| Hbb-bs |
A |
G |
7: 103,476,985 (GRCm39) |
|
probably benign |
Het |
| Klra2 |
T |
A |
6: 131,197,180 (GRCm39) |
Y273F |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,507,801 (GRCm39) |
|
probably benign |
Het |
| Msto1 |
A |
T |
3: 88,818,116 (GRCm39) |
V366E |
probably damaging |
Het |
| Mtcl1 |
A |
G |
17: 66,686,378 (GRCm39) |
S843P |
probably damaging |
Het |
| Nhsl2 |
A |
G |
X: 101,114,939 (GRCm39) |
N97S |
probably benign |
Het |
| Npm2 |
C |
A |
14: 70,890,039 (GRCm39) |
|
probably benign |
Het |
| Npr2 |
C |
T |
4: 43,643,133 (GRCm39) |
R506C |
probably damaging |
Het |
| Olr1 |
T |
C |
6: 129,465,898 (GRCm39) |
E36G |
probably damaging |
Het |
| Or56b2 |
A |
T |
7: 104,337,609 (GRCm39) |
Y129F |
probably benign |
Het |
| Pcdhb19 |
A |
G |
18: 37,631,209 (GRCm39) |
I335V |
probably benign |
Het |
| Pla2g6 |
T |
C |
15: 79,171,060 (GRCm39) |
D772G |
probably damaging |
Het |
| Ppfibp1 |
C |
A |
6: 146,899,667 (GRCm39) |
D119E |
probably benign |
Het |
| Prdm9 |
T |
C |
17: 15,765,193 (GRCm39) |
N529S |
probably benign |
Het |
| Rnf20 |
T |
A |
4: 49,649,955 (GRCm39) |
|
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,120,869 (GRCm39) |
V77A |
possibly damaging |
Het |
| Tmem132c |
T |
A |
5: 127,640,448 (GRCm39) |
V873E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,757,428 (GRCm39) |
|
probably null |
Het |
| Vmn2r54 |
A |
G |
7: 12,349,314 (GRCm39) |
I756T |
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 |
|
IGL02895:Endod1
|
APN |
9 |
14,268,166 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02994:Endod1
|
APN |
9 |
14,268,183 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
2016-08-02 |
Incidental Mutation