Incidental Mutation 'IGL03304:D3Ertd751e'
| ID |
416356 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
D3Ertd751e
|
| Ensembl Gene |
ENSMUSG00000025766 |
| Gene Name |
DNA segment, Chr 3, ERATO Doi 751, expressed |
| Synonyms |
2810009O15Rik, 4930415G15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL03304
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
41697046-41757755 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 41701164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142037
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026866]
[ENSMUST00000026867]
[ENSMUST00000026868]
[ENSMUST00000108065]
[ENSMUST00000119572]
[ENSMUST00000120167]
[ENSMUST00000143841]
[ENSMUST00000194346]
[ENSMUST00000192193]
[ENSMUST00000195882]
[ENSMUST00000146165]
[ENSMUST00000148769]
[ENSMUST00000195030]
[ENSMUST00000146125]
|
| AlphaFold |
Q8BGN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026866
|
| SMART Domains |
Protein: ENSMUSP00000026866
Gene: ENSMUSG00000059834
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
59 |
105 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
166 |
179 |
6.29e-5 |
PROSPERO |
|
coiled coil region
|
372 |
543 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
555 |
568 |
6.29e-5 |
PROSPERO |
|
coiled coil region
|
571 |
675 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000026867
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000026868
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108065
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000119572
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000120167
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143841
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193228
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000194346
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000193075
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000192193
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000195882
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000146165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191629
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192799
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195577
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148769
|
| SMART Domains |
Protein: ENSMUSP00000123392
Gene: ENSMUSG00000059834
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
59 |
105 |
N/A |
INTRINSIC |
|
coiled coil region
|
178 |
333 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195030
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146125
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
A |
T |
9: 106,312,665 (GRCm39) |
|
probably null |
Het |
| Adamts4 |
T |
C |
1: 171,080,438 (GRCm39) |
|
probably benign |
Het |
| Anapc1 |
A |
T |
2: 128,469,033 (GRCm39) |
|
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Aoah |
A |
G |
13: 21,099,180 (GRCm39) |
|
probably benign |
Het |
| Atp9b |
A |
T |
18: 80,961,092 (GRCm39) |
Y40N |
probably damaging |
Het |
| Brd8 |
A |
G |
18: 34,747,633 (GRCm39) |
|
probably benign |
Het |
| Cd274 |
A |
C |
19: 29,361,502 (GRCm39) |
E270A |
probably damaging |
Het |
| Cic |
T |
A |
7: 24,984,274 (GRCm39) |
V23E |
probably damaging |
Het |
| Cpeb4 |
T |
C |
11: 31,822,739 (GRCm39) |
L151P |
probably damaging |
Het |
| Diaph1 |
A |
T |
18: 37,987,626 (GRCm39) |
D1043E |
possibly damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,841,667 (GRCm39) |
Y534C |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,505,982 (GRCm39) |
N3848I |
probably damaging |
Het |
| Ifi211 |
A |
T |
1: 173,735,273 (GRCm39) |
M52K |
probably damaging |
Het |
| Itih4 |
T |
C |
14: 30,620,006 (GRCm39) |
I747T |
probably damaging |
Het |
| Kifbp |
A |
C |
10: 62,395,082 (GRCm39) |
L520R |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,695 (GRCm39) |
M276V |
possibly damaging |
Het |
| Mmp1b |
A |
T |
9: 7,384,701 (GRCm39) |
D282E |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,785,137 (GRCm39) |
V265D |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,570,257 (GRCm39) |
L439* |
probably null |
Het |
| Nlrp4e |
T |
A |
7: 23,052,768 (GRCm39) |
|
probably null |
Het |
| Ogfod2 |
A |
T |
5: 124,250,886 (GRCm39) |
D24V |
probably damaging |
Het |
| Or1ak2 |
T |
C |
2: 36,827,560 (GRCm39) |
L143P |
probably damaging |
Het |
| Or5b105 |
A |
G |
19: 13,080,105 (GRCm39) |
S182P |
probably damaging |
Het |
| Or9s23 |
T |
C |
1: 92,501,025 (GRCm39) |
V44A |
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 82,028,803 (GRCm39) |
W1661R |
probably damaging |
Het |
| Pdzph1 |
G |
A |
17: 59,187,641 (GRCm39) |
T1193I |
probably damaging |
Het |
| Pias3 |
A |
G |
3: 96,607,347 (GRCm39) |
T152A |
possibly damaging |
Het |
| Pla2g5 |
A |
T |
4: 138,531,880 (GRCm39) |
Y41* |
probably null |
Het |
| Plxna4 |
A |
G |
6: 32,141,986 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2a |
A |
C |
14: 67,253,977 (GRCm39) |
V397G |
probably benign |
Het |
| Ripor3 |
A |
G |
2: 167,822,848 (GRCm39) |
|
probably benign |
Het |
| Slc35a3 |
A |
G |
3: 116,480,960 (GRCm39) |
L101P |
probably damaging |
Het |
| Sptan1 |
G |
A |
2: 29,876,505 (GRCm39) |
R295Q |
probably damaging |
Het |
| Syce1 |
A |
T |
7: 140,357,623 (GRCm39) |
V314D |
possibly damaging |
Het |
| Tex52 |
T |
C |
6: 128,356,495 (GRCm39) |
Y63H |
possibly damaging |
Het |
| Tmem63a |
T |
A |
1: 180,796,418 (GRCm39) |
Y580* |
probably null |
Het |
| Ube2m |
T |
A |
7: 12,769,685 (GRCm39) |
|
probably benign |
Het |
| Vmn1r50 |
G |
T |
6: 90,084,625 (GRCm39) |
K123N |
probably damaging |
Het |
|
| Other mutations in D3Ertd751e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01329:D3Ertd751e
|
APN |
3 |
41,703,132 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02484:D3Ertd751e
|
APN |
3 |
41,708,155 (GRCm39) |
splice site |
probably null |
|
|
IGL02587:D3Ertd751e
|
APN |
3 |
41,708,287 (GRCm39) |
missense |
probably benign |
|
|
IGL03173:D3Ertd751e
|
APN |
3 |
41,710,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Terre
|
UTSW |
3 |
41,712,844 (GRCm39) |
splice site |
probably null |
|
|
R0239:D3Ertd751e
|
UTSW |
3 |
41,708,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:D3Ertd751e
|
UTSW |
3 |
41,708,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4275:D3Ertd751e
|
UTSW |
3 |
41,710,589 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6350:D3Ertd751e
|
UTSW |
3 |
41,708,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7001:D3Ertd751e
|
UTSW |
3 |
41,712,844 (GRCm39) |
splice site |
probably null |
|
|
R7134:D3Ertd751e
|
UTSW |
3 |
41,708,212 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7179:D3Ertd751e
|
UTSW |
3 |
41,703,143 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7318:D3Ertd751e
|
UTSW |
3 |
41,756,986 (GRCm39) |
splice site |
probably null |
|
|
R7358:D3Ertd751e
|
UTSW |
3 |
41,701,000 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7632:D3Ertd751e
|
UTSW |
3 |
41,708,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7896:D3Ertd751e
|
UTSW |
3 |
41,710,508 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7952:D3Ertd751e
|
UTSW |
3 |
41,703,096 (GRCm39) |
splice site |
probably null |
|
|
R8714:D3Ertd751e
|
UTSW |
3 |
41,700,998 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation