Incidental Mutation 'IGL03373:Obox3'
| ID |
420390 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Obox3
|
| Ensembl Gene |
ENSMUSG00000066772 |
| Gene Name |
oocyte specific homeobox 3 |
| Synonyms |
Ohx |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
IGL03373
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
15359231-15373702 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 15359715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 318
(V318D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134531
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086122]
[ENSMUST00000095217]
[ENSMUST00000173395]
[ENSMUST00000173912]
[ENSMUST00000174151]
[ENSMUST00000174443]
[ENSMUST00000174842]
|
| AlphaFold |
Q3UT54 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086122
AA Change: V318D
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000083291
Gene: ENSMUSG00000066772
AA Change: V318D
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095217
AA Change: V318D
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000092842
Gene: ENSMUSG00000066772
AA Change: V318D
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173395
|
| SMART Domains |
Protein: ENSMUSP00000133788
Gene: ENSMUSG00000066772
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173912
AA Change: V318D
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000133427
Gene: ENSMUSG00000066772
AA Change: V318D
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174151
|
| SMART Domains |
Protein: ENSMUSP00000133814
Gene: ENSMUSG00000066772
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174443
AA Change: V318D
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000134531
Gene: ENSMUSG00000066772
AA Change: V318D
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174842
|
| SMART Domains |
Protein: ENSMUSP00000134526
Gene: ENSMUSG00000066772
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
151 |
1.46e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182148
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
T |
12: 113,509,172 (GRCm39) |
Y515F |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,711,751 (GRCm39) |
V1075A |
probably damaging |
Het |
| Alox8 |
T |
C |
11: 69,077,443 (GRCm39) |
T436A |
probably benign |
Het |
| Cdc7 |
T |
A |
5: 107,120,785 (GRCm39) |
|
probably benign |
Het |
| Cdhr1 |
T |
A |
14: 36,818,257 (GRCm39) |
D65V |
possibly damaging |
Het |
| Dnase1 |
A |
G |
16: 3,857,707 (GRCm39) |
E278G |
probably damaging |
Het |
| Eif3g |
A |
T |
9: 20,805,722 (GRCm39) |
|
probably benign |
Het |
| Flnb |
G |
A |
14: 7,890,867 (GRCm38) |
|
probably null |
Het |
| Hars2 |
G |
T |
18: 36,918,998 (GRCm39) |
R86L |
probably damaging |
Het |
| Lmod1 |
C |
T |
1: 135,292,264 (GRCm39) |
A373V |
possibly damaging |
Het |
| Mdga2 |
A |
G |
12: 66,763,496 (GRCm39) |
I200T |
probably damaging |
Het |
| Mup1 |
T |
G |
4: 60,457,849 (GRCm39) |
|
probably benign |
Het |
| Nat8f5 |
A |
C |
6: 85,794,529 (GRCm39) |
S144A |
probably benign |
Het |
| Ndnf |
A |
C |
6: 65,681,272 (GRCm39) |
Y517S |
possibly damaging |
Het |
| Nedd4l |
G |
A |
18: 65,314,391 (GRCm39) |
|
probably benign |
Het |
| Nlrp4g |
A |
T |
9: 124,349,853 (GRCm38) |
|
noncoding transcript |
Het |
| Nob1 |
C |
T |
8: 108,144,678 (GRCm39) |
|
probably benign |
Het |
| Nploc4 |
G |
A |
11: 120,300,455 (GRCm39) |
R326* |
probably null |
Het |
| Or10a3m |
G |
A |
7: 108,313,339 (GRCm39) |
V248I |
probably damaging |
Het |
| Or10ag57 |
T |
C |
2: 87,218,577 (GRCm39) |
F176S |
probably damaging |
Het |
| Pgm1 |
T |
C |
4: 99,818,741 (GRCm39) |
I130T |
probably damaging |
Het |
| Ptprk |
A |
T |
10: 28,442,533 (GRCm39) |
D845V |
probably damaging |
Het |
| Ptx4 |
T |
A |
17: 25,339,873 (GRCm39) |
S17T |
probably benign |
Het |
| Rasgrf1 |
T |
C |
9: 89,899,084 (GRCm39) |
|
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,596,096 (GRCm39) |
T426A |
probably damaging |
Het |
| Sfpq |
C |
A |
4: 126,920,578 (GRCm39) |
R564S |
possibly damaging |
Het |
| Spint2 |
A |
G |
7: 28,957,634 (GRCm39) |
|
probably benign |
Het |
| Vmn1r27 |
A |
G |
6: 58,192,689 (GRCm39) |
I105T |
probably damaging |
Het |
| Vmn1r78 |
T |
C |
7: 11,887,270 (GRCm39) |
S294P |
possibly damaging |
Het |
| Vmn2r40 |
T |
C |
7: 8,923,092 (GRCm39) |
D423G |
probably benign |
Het |
|
| Other mutations in Obox3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01943:Obox3
|
APN |
7 |
15,360,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02601:Obox3
|
APN |
7 |
15,360,848 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02978:Obox3
|
APN |
7 |
15,360,178 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03088:Obox3
|
APN |
7 |
15,360,927 (GRCm39) |
splice site |
probably benign |
|
|
IGL03178:Obox3
|
APN |
7 |
15,361,202 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL03219:Obox3
|
APN |
7 |
15,359,803 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0119:Obox3
|
UTSW |
7 |
15,360,252 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1471:Obox3
|
UTSW |
7 |
15,360,875 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3916:Obox3
|
UTSW |
7 |
15,361,151 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4072:Obox3
|
UTSW |
7 |
15,359,724 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4073:Obox3
|
UTSW |
7 |
15,359,724 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4075:Obox3
|
UTSW |
7 |
15,359,724 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4076:Obox3
|
UTSW |
7 |
15,359,724 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4712:Obox3
|
UTSW |
7 |
15,360,764 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4751:Obox3
|
UTSW |
7 |
15,359,617 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4868:Obox3
|
UTSW |
7 |
15,361,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5151:Obox3
|
UTSW |
7 |
15,360,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5290:Obox3
|
UTSW |
7 |
15,360,774 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5399:Obox3
|
UTSW |
7 |
15,360,213 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5882:Obox3
|
UTSW |
7 |
15,360,893 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6147:Obox3
|
UTSW |
7 |
15,359,926 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6378:Obox3
|
UTSW |
7 |
15,360,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7221:Obox3
|
UTSW |
7 |
15,359,983 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7314:Obox3
|
UTSW |
7 |
15,361,079 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8124:Obox3
|
UTSW |
7 |
15,323,874 (GRCm39) |
splice site |
probably null |
|
|
R8711:Obox3
|
UTSW |
7 |
15,360,148 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8825:Obox3
|
UTSW |
7 |
15,361,226 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:Obox3
|
UTSW |
7 |
15,360,149 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Posted On |
2016-08-02 |
Incidental Mutation