Incidental Mutation 'IGL03219:Obox3'
ID |
413575 |
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: 0.177)
|
Stock # |
IGL03219
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
15359231-15373702 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 15359803 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 289
(L289F)
|
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 damaging
Transcript: ENSMUST00000086122
AA Change: L289F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000083291 Gene: ENSMUSG00000066772 AA Change: L289F
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095217
AA Change: L289F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000092842 Gene: ENSMUSG00000066772 AA Change: L289F
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 damaging
Transcript: ENSMUST00000173912
AA Change: L289F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000133427 Gene: ENSMUSG00000066772 AA Change: L289F
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 damaging
Transcript: ENSMUST00000174443
AA Change: L289F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000134531 Gene: ENSMUSG00000066772 AA Change: L289F
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Clasp2 |
T |
C |
9: 113,677,545 (GRCm39) |
|
probably benign |
Het |
Ctss |
C |
T |
3: 95,450,411 (GRCm39) |
R121W |
possibly damaging |
Het |
Cyp2c67 |
A |
T |
19: 39,631,738 (GRCm39) |
M153K |
possibly damaging |
Het |
Cyp2d34 |
T |
C |
15: 82,502,740 (GRCm39) |
H162R |
probably benign |
Het |
Dynlrb2 |
A |
T |
8: 117,241,635 (GRCm39) |
I60F |
probably benign |
Het |
E4f1 |
C |
T |
17: 24,664,419 (GRCm39) |
|
probably null |
Het |
Fzd6 |
T |
A |
15: 38,894,971 (GRCm39) |
V379E |
probably damaging |
Het |
Galnt13 |
T |
C |
2: 54,823,447 (GRCm39) |
V341A |
possibly damaging |
Het |
Hip1 |
T |
C |
5: 135,485,904 (GRCm39) |
S100G |
probably benign |
Het |
Ncapd3 |
T |
C |
9: 26,975,169 (GRCm39) |
|
probably benign |
Het |
Or52s6 |
C |
T |
7: 103,091,745 (GRCm39) |
G195E |
possibly damaging |
Het |
Or8b50 |
G |
T |
9: 38,518,247 (GRCm39) |
C162F |
probably benign |
Het |
Pkhd1l1 |
G |
A |
15: 44,460,291 (GRCm39) |
E4167K |
possibly damaging |
Het |
Pphln1 |
T |
C |
15: 93,363,136 (GRCm39) |
|
probably benign |
Het |
Ranbp6 |
A |
T |
19: 29,787,680 (GRCm39) |
W891R |
probably damaging |
Het |
Rgs22 |
A |
T |
15: 36,107,194 (GRCm39) |
L64Q |
probably damaging |
Het |
Ripor2 |
A |
T |
13: 24,907,702 (GRCm39) |
Y991F |
probably damaging |
Het |
Senp2 |
T |
A |
16: 21,833,014 (GRCm39) |
|
probably benign |
Het |
Slc44a3 |
G |
A |
3: 121,257,169 (GRCm39) |
T508I |
probably damaging |
Het |
Tdrd6 |
T |
C |
17: 43,938,855 (GRCm39) |
D731G |
probably benign |
Het |
Thnsl1 |
T |
A |
2: 21,217,217 (GRCm39) |
C324S |
probably benign |
Het |
Tnfrsf11b |
A |
T |
15: 54,117,574 (GRCm39) |
L227* |
probably null |
Het |
Tulp4 |
T |
C |
17: 6,189,285 (GRCm39) |
C36R |
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 |
|
IGL03178:Obox3
|
APN |
7 |
15,361,202 (GRCm39) |
missense |
probably benign |
0.12 |
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 |