Incidental Mutation 'IGL02978:Obox3'
| ID |
406447 |
| 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 # |
IGL02978
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
15359231-15373702 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15360178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 164
(T164A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133814
(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: T164A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000083291
Gene: ENSMUSG00000066772
AA Change: T164A
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095217
AA Change: T164A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000092842
Gene: ENSMUSG00000066772
AA Change: T164A
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173395
AA Change: T164A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000133788
Gene: ENSMUSG00000066772
AA Change: T164A
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173912
AA Change: T164A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000133427
Gene: ENSMUSG00000066772
AA Change: T164A
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174151
AA Change: T164A
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000133814
Gene: ENSMUSG00000066772
AA Change: T164A
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174443
AA Change: T164A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000134531
Gene: ENSMUSG00000066772
AA Change: T164A
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
T |
A |
3: 97,073,875 (GRCm39) |
F160I |
probably benign |
Het |
| Agt |
T |
C |
8: 125,284,502 (GRCm39) |
D412G |
possibly damaging |
Het |
| Als2 |
C |
A |
1: 59,254,324 (GRCm39) |
Q344H |
probably benign |
Het |
| Ate1 |
C |
A |
7: 129,996,470 (GRCm39) |
|
probably benign |
Het |
| B3gnt5 |
A |
G |
16: 19,588,744 (GRCm39) |
H321R |
probably damaging |
Het |
| Cog2 |
C |
A |
8: 125,277,075 (GRCm39) |
H694N |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,855,211 (GRCm39) |
N157S |
unknown |
Het |
| Cyp3a44 |
T |
A |
5: 145,725,208 (GRCm39) |
K331I |
probably damaging |
Het |
| Dnaaf9 |
T |
C |
2: 130,569,082 (GRCm39) |
D749G |
probably damaging |
Het |
| Gal3st4 |
C |
A |
5: 138,263,931 (GRCm39) |
W351L |
probably damaging |
Het |
| H2-T22 |
A |
T |
17: 36,352,517 (GRCm39) |
L136H |
probably benign |
Het |
| Ift25 |
A |
G |
4: 107,132,471 (GRCm39) |
E86G |
probably damaging |
Het |
| Itpripl1 |
A |
T |
2: 126,982,932 (GRCm39) |
F397I |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,093,076 (GRCm39) |
Q1705* |
probably null |
Het |
| Mfge8 |
A |
T |
7: 78,791,458 (GRCm39) |
L248Q |
probably damaging |
Het |
| Mfge8 |
T |
C |
7: 78,791,476 (GRCm39) |
E279G |
possibly damaging |
Het |
| Plat |
T |
C |
8: 23,266,835 (GRCm39) |
C276R |
probably damaging |
Het |
| Radil |
G |
A |
5: 142,480,674 (GRCm39) |
R594C |
probably benign |
Het |
| Shroom4 |
T |
A |
X: 6,497,244 (GRCm39) |
D801E |
probably benign |
Het |
| Thsd4 |
C |
T |
9: 59,964,129 (GRCm39) |
|
probably null |
Het |
| Vmn2r77 |
C |
T |
7: 86,460,555 (GRCm39) |
T627I |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,168,298 (GRCm39) |
T851S |
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 |
|
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 |
|
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 |
Incidental Mutation