Incidental Mutation 'R0745:Endod1'
| ID |
70922 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Endod1
|
| Ensembl Gene |
ENSMUSG00000037419 |
| Gene Name |
endonuclease domain containing 1 |
| Synonyms |
2210414F18Rik, 2310067E08Rik |
| MMRRC Submission |
038926-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R0745 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
14265286-14292538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14268413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 357
(N357K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167549]
|
| AlphaFold |
Q8C522 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167549
AA Change: N357K
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127751
Gene: ENSMUSG00000037419
AA Change: N357K
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.0%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
A |
T |
2: 150,675,068 (GRCm39) |
|
probably null |
Het |
| Adam17 |
A |
G |
12: 21,382,222 (GRCm39) |
|
probably benign |
Het |
| Aldh1l2 |
T |
A |
10: 83,354,494 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
A |
G |
3: 36,982,612 (GRCm39) |
Y759C |
probably damaging |
Het |
| Brca2 |
A |
T |
5: 150,468,347 (GRCm39) |
|
probably benign |
Het |
| Capn13 |
A |
C |
17: 73,658,503 (GRCm39) |
D188E |
probably benign |
Het |
| Col14a1 |
A |
T |
15: 55,201,813 (GRCm39) |
T34S |
unknown |
Het |
| Col5a2 |
A |
G |
1: 45,446,387 (GRCm39) |
|
probably null |
Het |
| Cyp4v3 |
A |
G |
8: 45,761,688 (GRCm39) |
|
probably benign |
Het |
| Dlat |
G |
A |
9: 50,565,008 (GRCm39) |
T233M |
probably damaging |
Het |
| Eef2 |
C |
T |
10: 81,017,830 (GRCm39) |
P831S |
probably benign |
Het |
| Evc |
A |
T |
5: 37,476,403 (GRCm39) |
V205E |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,228,469 (GRCm39) |
L1754P |
probably damaging |
Het |
| Gabra6 |
A |
T |
11: 42,207,394 (GRCm39) |
M230K |
probably damaging |
Het |
| Hsd3b5 |
A |
G |
3: 98,526,855 (GRCm39) |
V197A |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,564,696 (GRCm39) |
|
probably null |
Het |
| Mthfsd |
A |
T |
8: 121,829,688 (GRCm39) |
L116Q |
probably damaging |
Het |
| Mug1 |
A |
G |
6: 121,864,386 (GRCm39) |
T1428A |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,973,065 (GRCm39) |
V2312A |
probably benign |
Het |
| Or1i2 |
T |
C |
10: 78,447,956 (GRCm39) |
E173G |
probably benign |
Het |
| Palld |
G |
A |
8: 62,330,737 (GRCm39) |
R47C |
probably damaging |
Het |
| Pds5b |
A |
G |
5: 150,729,136 (GRCm39) |
T1424A |
probably benign |
Het |
| Ppp6r2 |
G |
A |
15: 89,149,445 (GRCm39) |
|
probably null |
Het |
| Sik3 |
A |
G |
9: 46,109,537 (GRCm39) |
N505S |
probably benign |
Het |
| Spin1 |
A |
G |
13: 51,293,551 (GRCm39) |
Y87C |
probably damaging |
Het |
| Tcp11 |
T |
C |
17: 28,286,134 (GRCm39) |
I494V |
possibly damaging |
Het |
| Tgfa |
G |
A |
6: 86,248,417 (GRCm39) |
E140K |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trmo |
A |
G |
4: 46,382,104 (GRCm39) |
F338L |
probably damaging |
Het |
| Tspan17 |
T |
C |
13: 54,937,487 (GRCm39) |
V27A |
possibly damaging |
Het |
| Tut4 |
C |
G |
4: 108,360,152 (GRCm39) |
|
probably benign |
Het |
| Uba5 |
A |
G |
9: 103,926,710 (GRCm39) |
|
probably benign |
Het |
| Unc5a |
CTGTGTGTGTGTGTGT |
CTGTGTGTGTGTGT |
13: 55,153,068 (GRCm39) |
|
probably null |
Het |
| Zbbx |
C |
T |
3: 75,062,734 (GRCm39) |
V8I |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,809,929 (GRCm39) |
L931* |
probably null |
Het |
| Zmym4 |
A |
T |
4: 126,796,496 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACATCCACAAGGACTCGGAGAGG -3'
(R):5'- GTCAACCAAGTCCAAGATGAGGAGC -3'
Sequencing Primer
(F):5'- GCAGACAGCCTTCAGCAG -3'
(R):5'- CAGTCTCAAGAGAGAATGAGTCCC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation