Incidental Mutation 'IGL02700:Obox5'
| ID |
304090 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Obox5
|
| Ensembl Gene |
ENSMUSG00000074366 |
| Gene Name |
oocyte specific homeobox 5 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
IGL02700
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
15484295-15493199 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15492888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 281
(D281G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098802]
[ENSMUST00000173053]
[ENSMUST00000173455]
|
| AlphaFold |
G3X9P6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098802
AA Change: D281G
PolyPhen 2
Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000096400
Gene: ENSMUSG00000074366
AA Change: D281G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
74 |
N/A |
INTRINSIC |
|
HOX
|
94 |
156 |
2e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173053
|
| SMART Domains |
Protein: ENSMUSP00000134618
Gene: ENSMUSG00000074366
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
74 |
N/A |
INTRINSIC |
|
HOX
|
94 |
156 |
2e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173455
|
| SMART Domains |
Protein: ENSMUSP00000134468
Gene: ENSMUSG00000074366
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
74 |
N/A |
INTRINSIC |
|
HOX
|
94 |
156 |
2e-17 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
C |
A |
8: 122,262,161 (GRCm39) |
|
probably null |
Het |
| Acacb |
A |
G |
5: 114,356,942 (GRCm39) |
Y1291C |
probably damaging |
Het |
| Agtpbp1 |
C |
T |
13: 59,676,233 (GRCm39) |
C179Y |
probably damaging |
Het |
| Capn15 |
T |
C |
17: 26,181,982 (GRCm39) |
D609G |
probably damaging |
Het |
| Cnnm3 |
T |
A |
1: 36,552,189 (GRCm39) |
F400I |
probably damaging |
Het |
| Dst |
A |
C |
1: 34,301,201 (GRCm39) |
E1189A |
probably damaging |
Het |
| Gcnt1 |
G |
A |
19: 17,306,780 (GRCm39) |
T315I |
probably damaging |
Het |
| H2-M1 |
T |
C |
17: 36,982,161 (GRCm39) |
I147V |
possibly damaging |
Het |
| Hk1 |
T |
C |
10: 62,120,590 (GRCm39) |
N536D |
probably damaging |
Het |
| Klhl5 |
C |
T |
5: 65,288,773 (GRCm39) |
Q12* |
probably null |
Het |
| Lgals12 |
C |
T |
19: 7,575,455 (GRCm39) |
A294T |
probably benign |
Het |
| Mideas |
T |
C |
12: 84,199,636 (GRCm39) |
N1028S |
probably benign |
Het |
| Mki67 |
G |
T |
7: 135,309,931 (GRCm39) |
S173R |
probably benign |
Het |
| Nedd4l |
C |
T |
18: 65,342,751 (GRCm39) |
R755C |
probably damaging |
Het |
| Or4f6 |
T |
C |
2: 111,839,036 (GRCm39) |
D165G |
probably benign |
Het |
| Pacs2 |
T |
A |
12: 113,025,330 (GRCm39) |
I494N |
probably damaging |
Het |
| Pax5 |
G |
T |
4: 44,682,722 (GRCm39) |
T141K |
probably damaging |
Het |
| Phf21b |
T |
C |
15: 84,687,662 (GRCm39) |
N230S |
probably benign |
Het |
| Rab3gap1 |
G |
T |
1: 127,866,342 (GRCm39) |
A841S |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,001,802 (GRCm39) |
L204P |
probably damaging |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Snca |
G |
A |
6: 60,804,521 (GRCm39) |
T22I |
possibly damaging |
Het |
| Syvn1 |
A |
G |
19: 6,097,973 (GRCm39) |
T4A |
probably benign |
Het |
| Usp36 |
T |
C |
11: 118,166,983 (GRCm39) |
N298S |
possibly damaging |
Het |
| Usp42 |
A |
T |
5: 143,702,883 (GRCm39) |
S579R |
probably benign |
Het |
| Vezf1 |
T |
C |
11: 87,964,129 (GRCm39) |
S94P |
probably damaging |
Het |
|
| Other mutations in Obox5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01151:Obox5
|
APN |
7 |
15,492,516 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02105:Obox5
|
APN |
7 |
15,492,500 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02590:Obox5
|
APN |
7 |
15,491,517 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02642:Obox5
|
APN |
7 |
15,491,972 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03129:Obox5
|
APN |
7 |
15,492,684 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0312:Obox5
|
UTSW |
7 |
15,491,485 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0463:Obox5
|
UTSW |
7 |
15,491,571 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0467:Obox5
|
UTSW |
7 |
15,491,932 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0899:Obox5
|
UTSW |
7 |
15,492,800 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1574:Obox5
|
UTSW |
7 |
15,492,558 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1574:Obox5
|
UTSW |
7 |
15,492,558 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2017:Obox5
|
UTSW |
7 |
15,492,807 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3711:Obox5
|
UTSW |
7 |
15,492,713 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4391:Obox5
|
UTSW |
7 |
15,491,899 (GRCm39) |
nonsense |
probably null |
|
|
R5217:Obox5
|
UTSW |
7 |
15,491,793 (GRCm39) |
splice site |
probably null |
|
|
R5357:Obox5
|
UTSW |
7 |
15,491,463 (GRCm39) |
start codon destroyed |
probably null |
0.94 |
|
R5424:Obox5
|
UTSW |
7 |
15,492,807 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5559:Obox5
|
UTSW |
7 |
15,491,522 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6533:Obox5
|
UTSW |
7 |
15,491,532 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7021:Obox5
|
UTSW |
7 |
15,491,681 (GRCm39) |
splice site |
probably null |
|
|
R7097:Obox5
|
UTSW |
7 |
15,492,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7122:Obox5
|
UTSW |
7 |
15,492,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7180:Obox5
|
UTSW |
7 |
15,491,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7395:Obox5
|
UTSW |
7 |
15,492,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7398:Obox5
|
UTSW |
7 |
15,492,713 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8111:Obox5
|
UTSW |
7 |
15,492,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9277:Obox5
|
UTSW |
7 |
15,491,877 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2015-04-16 |
Incidental Mutation