Incidental Mutation 'IGL03178:Obox3'
ID |
412087 |
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 # |
IGL03178
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
15359231-15373702 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 15361202 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 21
(L21P)
|
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: L21P
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000083291 Gene: ENSMUSG00000066772 AA Change: L21P
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000095217
AA Change: L21P
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000092842 Gene: ENSMUSG00000066772 AA Change: L21P
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173395
AA Change: L21P
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000133788 Gene: ENSMUSG00000066772 AA Change: L21P
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173912
AA Change: L21P
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000133427 Gene: ENSMUSG00000066772 AA Change: L21P
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174151
AA Change: L21P
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000133814 Gene: ENSMUSG00000066772 AA Change: L21P
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174443
AA Change: L21P
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000134531 Gene: ENSMUSG00000066772 AA Change: L21P
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174842
AA Change: L21P
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000134526 Gene: ENSMUSG00000066772 AA Change: L21P
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add1 |
A |
G |
5: 34,771,589 (GRCm39) |
|
probably null |
Het |
Afg2a |
T |
C |
3: 37,632,932 (GRCm39) |
L846P |
probably damaging |
Het |
Alpk1 |
A |
T |
3: 127,473,870 (GRCm39) |
L711* |
probably null |
Het |
Arfgef3 |
A |
T |
10: 18,488,973 (GRCm39) |
W1291R |
probably damaging |
Het |
Arhgef10l |
A |
G |
4: 140,271,739 (GRCm39) |
V545A |
possibly damaging |
Het |
Best3 |
A |
G |
10: 116,824,684 (GRCm39) |
Y50C |
probably damaging |
Het |
C1qtnf2 |
C |
A |
11: 43,381,816 (GRCm39) |
D179E |
probably damaging |
Het |
Cdc40 |
A |
T |
10: 40,723,985 (GRCm39) |
S268T |
probably benign |
Het |
Ces1a |
C |
T |
8: 93,747,517 (GRCm39) |
G505R |
probably damaging |
Het |
Cpd |
A |
T |
11: 76,696,877 (GRCm39) |
N683K |
probably benign |
Het |
D430041D05Rik |
A |
T |
2: 104,051,556 (GRCm39) |
I767N |
probably damaging |
Het |
Diras1 |
G |
T |
10: 80,858,211 (GRCm39) |
F13L |
possibly damaging |
Het |
Dnah7c |
A |
G |
1: 46,506,525 (GRCm39) |
N201D |
probably benign |
Het |
Dpy19l3 |
A |
T |
7: 35,429,154 (GRCm39) |
Y9* |
probably null |
Het |
Ect2 |
T |
A |
3: 27,203,009 (GRCm39) |
I79L |
probably benign |
Het |
Eif2b4 |
A |
T |
5: 31,344,997 (GRCm39) |
I550N |
probably damaging |
Het |
Enpp2 |
T |
A |
15: 54,729,402 (GRCm39) |
M476L |
probably benign |
Het |
Gm20425 |
A |
G |
9: 103,087,751 (GRCm39) |
Y654H |
probably damaging |
Het |
Gm5884 |
T |
C |
6: 128,622,690 (GRCm39) |
|
noncoding transcript |
Het |
Gtf3c6 |
A |
T |
10: 40,125,718 (GRCm39) |
D166E |
probably benign |
Het |
Gucy2c |
A |
T |
6: 136,706,237 (GRCm39) |
|
probably benign |
Het |
Inpp5b |
A |
G |
4: 124,679,047 (GRCm39) |
T485A |
probably benign |
Het |
Insrr |
A |
G |
3: 87,709,848 (GRCm39) |
|
probably null |
Het |
Lig3 |
T |
C |
11: 82,680,548 (GRCm39) |
|
probably benign |
Het |
Lmo7 |
T |
A |
14: 102,166,696 (GRCm39) |
Y1047* |
probably null |
Het |
Map4k4 |
A |
G |
1: 40,025,853 (GRCm39) |
E281G |
possibly damaging |
Het |
Mmel1 |
A |
G |
4: 154,975,311 (GRCm39) |
T431A |
possibly damaging |
Het |
Myh10 |
T |
C |
11: 68,590,239 (GRCm39) |
V58A |
probably benign |
Het |
Myo1e |
A |
T |
9: 70,194,231 (GRCm39) |
H14L |
possibly damaging |
Het |
Myo1g |
C |
T |
11: 6,462,181 (GRCm39) |
V594M |
probably damaging |
Het |
Nr4a2 |
G |
A |
2: 57,000,778 (GRCm39) |
R226C |
probably damaging |
Het |
Or2y13 |
A |
G |
11: 49,414,817 (GRCm39) |
D89G |
possibly damaging |
Het |
Pate12 |
T |
G |
9: 36,344,132 (GRCm39) |
S38R |
probably benign |
Het |
Phlpp1 |
T |
A |
1: 106,320,118 (GRCm39) |
I1371N |
probably damaging |
Het |
Pramel29 |
A |
G |
4: 143,934,821 (GRCm39) |
|
probably null |
Het |
Proser3 |
G |
A |
7: 30,243,034 (GRCm39) |
A181V |
probably damaging |
Het |
Pudp |
A |
T |
18: 50,701,472 (GRCm39) |
L87Q |
probably benign |
Het |
Siglecf |
T |
C |
7: 43,008,163 (GRCm39) |
S559P |
probably damaging |
Het |
Slc22a16 |
A |
G |
10: 40,449,756 (GRCm39) |
H85R |
probably benign |
Het |
Spata32 |
T |
C |
11: 103,101,588 (GRCm39) |
D15G |
probably benign |
Het |
Szt2 |
G |
A |
4: 118,239,886 (GRCm39) |
A1899V |
unknown |
Het |
Tomm40 |
C |
T |
7: 19,435,759 (GRCm39) |
V324M |
probably damaging |
Het |
Trgv7 |
C |
A |
13: 19,362,211 (GRCm39) |
|
probably benign |
Het |
Ttll4 |
C |
T |
1: 74,719,567 (GRCm39) |
P25S |
probably damaging |
Het |
Vps13b |
G |
T |
15: 35,869,446 (GRCm39) |
C2650F |
probably damaging |
Het |
Wdr83os |
T |
C |
8: 85,807,870 (GRCm39) |
L40P |
probably damaging |
Het |
Zfp977 |
T |
C |
7: 42,232,072 (GRCm39) |
R64G |
probably damaging |
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 |
|
IGL03219:Obox3
|
APN |
7 |
15,359,803 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03373:Obox3
|
APN |
7 |
15,359,715 (GRCm39) |
missense |
probably benign |
0.01 |
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 |