Incidental Mutation 'R3906:Endod1'
| ID |
309189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Endod1
|
| Ensembl Gene |
ENSMUSG00000037419 |
| Gene Name |
endonuclease domain containing 1 |
| Synonyms |
2210414F18Rik, 2310067E08Rik |
| MMRRC Submission |
040813-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R3906 (G1)
|
| Quality Score |
175 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
14265286-14292538 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14292151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 39
(Y39F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149823
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167549]
[ENSMUST00000214236]
|
| AlphaFold |
Q8C522 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167549
AA Change: Y39F
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000127751
Gene: ENSMUSG00000037419
AA Change: Y39F
| 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: ENSMUST00000213187
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213403
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214236
AA Change: Y39F
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215810
|
| Meta Mutation Damage Score |
0.0807 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,067,151 (GRCm39) |
V1352A |
possibly damaging |
Het |
| Abcb7 |
G |
T |
X: 103,327,765 (GRCm39) |
Q715K |
probably benign |
Het |
| Adamts3 |
C |
A |
5: 90,009,214 (GRCm39) |
G150C |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,810,547 (GRCm39) |
L513P |
probably damaging |
Het |
| Cacng1 |
C |
A |
11: 107,607,118 (GRCm39) |
V34L |
probably benign |
Het |
| Cd1d1 |
A |
G |
3: 86,906,063 (GRCm39) |
W71R |
probably damaging |
Het |
| Cdhr3 |
A |
G |
12: 33,103,427 (GRCm39) |
F397L |
probably damaging |
Het |
| Ces2a |
A |
G |
8: 105,465,940 (GRCm39) |
I325V |
probably benign |
Het |
| Ctsq |
C |
T |
13: 61,186,585 (GRCm39) |
V140M |
probably damaging |
Het |
| Cyp4f18 |
A |
G |
8: 72,754,926 (GRCm39) |
|
probably benign |
Het |
| Ddi2 |
T |
C |
4: 141,411,592 (GRCm39) |
D440G |
probably benign |
Het |
| Dsg3 |
G |
A |
18: 20,671,556 (GRCm39) |
G754R |
probably damaging |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Fn1 |
C |
T |
1: 71,647,072 (GRCm39) |
G1482R |
probably damaging |
Het |
| Fpr2 |
A |
G |
17: 18,113,811 (GRCm39) |
K269R |
probably benign |
Het |
| Frk |
T |
G |
10: 34,460,052 (GRCm39) |
L216V |
probably benign |
Het |
| Gan |
G |
A |
8: 117,920,873 (GRCm39) |
V370M |
probably damaging |
Het |
| Grik1 |
A |
G |
16: 87,803,337 (GRCm39) |
I285T |
probably benign |
Het |
| Hspa1a |
C |
T |
17: 35,190,703 (GRCm39) |
V67M |
probably damaging |
Het |
| Kbtbd8 |
T |
A |
6: 95,103,565 (GRCm39) |
Y405N |
probably damaging |
Het |
| Kcnj4 |
G |
T |
15: 79,369,946 (GRCm39) |
H11Q |
probably benign |
Het |
| Kif26a |
T |
A |
12: 112,143,324 (GRCm39) |
S1193T |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,706,624 (GRCm39) |
N1396D |
probably benign |
Het |
| Lasp1 |
G |
A |
11: 97,690,653 (GRCm39) |
V12M |
probably damaging |
Het |
| Lrrk1 |
G |
T |
7: 65,944,651 (GRCm39) |
T653K |
possibly damaging |
Het |
| Meiob |
A |
G |
17: 25,046,922 (GRCm39) |
Y182C |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,194,412 (GRCm39) |
D739G |
probably benign |
Het |
| Ninl |
T |
C |
2: 150,822,039 (GRCm39) |
D21G |
probably damaging |
Het |
| Or11g27 |
C |
T |
14: 50,771,211 (GRCm39) |
T114I |
probably benign |
Het |
| Or9i16 |
C |
T |
19: 13,865,070 (GRCm39) |
C168Y |
probably damaging |
Het |
| Pacsin2 |
A |
C |
15: 83,263,256 (GRCm39) |
V125G |
probably damaging |
Het |
| Pfas |
G |
A |
11: 68,879,112 (GRCm39) |
|
probably benign |
Het |
| Pla2g4f |
C |
T |
2: 120,130,980 (GRCm39) |
R825Q |
probably benign |
Het |
| Prkd1 |
A |
T |
12: 50,435,209 (GRCm39) |
V506E |
possibly damaging |
Het |
| Psmd2 |
A |
G |
16: 20,474,392 (GRCm39) |
D316G |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,753,095 (GRCm39) |
D1742V |
possibly damaging |
Het |
| Szt2 |
G |
A |
4: 118,235,466 (GRCm39) |
|
probably benign |
Het |
| Ugt8a |
T |
C |
3: 125,708,631 (GRCm39) |
T160A |
possibly damaging |
Het |
| Xrcc6 |
A |
G |
15: 81,913,772 (GRCm39) |
T378A |
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 |
|
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 |
|
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'- GTTCATGTTCTCTACTACCCAGGAAAC -3'
(R):5'- TGAGCACTGCAGCCATCTTC -3'
Sequencing Primer
(F):5'- CAGACACTGCAGACGTCTGAG -3'
(R):5'- AGCCATCTTCGGGGTGGAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation