Incidental Mutation 'R4076:Obox3'
ID |
316559 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Obox3
|
Ensembl Gene |
ENSMUSG00000066772 |
Gene Name |
oocyte specific homeobox 3 |
Synonyms |
Ohx |
MMRRC Submission |
040975-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.152)
|
Stock # |
R4076 (G1)
|
Quality Score |
166 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
15359231-15373702 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 15359724 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 315
(T315N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134531
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086122]
[ENSMUST00000095217]
[ENSMUST00000173395]
[ENSMUST00000173912]
[ENSMUST00000174151]
[ENSMUST00000174443]
[ENSMUST00000174842]
|
AlphaFold |
Q3UT54 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086122
AA Change: T315N
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000083291 Gene: ENSMUSG00000066772 AA Change: T315N
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095217
AA Change: T315N
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000092842 Gene: ENSMUSG00000066772 AA Change: T315N
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 |
possibly damaging
Transcript: ENSMUST00000173912
AA Change: T315N
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000133427 Gene: ENSMUSG00000066772 AA Change: T315N
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 |
possibly damaging
Transcript: ENSMUST00000174443
AA Change: T315N
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000134531 Gene: ENSMUSG00000066772 AA Change: T315N
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182148
|
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm4 |
T |
A |
7: 119,297,981 (GRCm39) |
L206H |
probably benign |
Het |
Adam34l |
A |
T |
8: 44,079,387 (GRCm39) |
F279Y |
probably damaging |
Het |
Anxa5 |
T |
C |
3: 36,504,529 (GRCm39) |
I277V |
probably benign |
Het |
Atg12 |
A |
G |
18: 46,870,491 (GRCm39) |
F92L |
probably benign |
Het |
Cd48 |
T |
A |
1: 171,523,451 (GRCm39) |
V98D |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 118,009,413 (GRCm39) |
M2083T |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,975,730 (GRCm39) |
T1440A |
probably benign |
Het |
Dnali1 |
T |
C |
4: 124,953,263 (GRCm39) |
D188G |
probably damaging |
Het |
Dst |
A |
G |
1: 34,231,350 (GRCm39) |
E2656G |
probably benign |
Het |
Eps15l1 |
A |
G |
8: 73,134,128 (GRCm39) |
I482T |
probably damaging |
Het |
Ercc4 |
G |
A |
16: 12,948,549 (GRCm39) |
V499I |
probably damaging |
Het |
Eva1c |
T |
A |
16: 90,701,019 (GRCm39) |
F331Y |
probably damaging |
Het |
Fcho1 |
T |
C |
8: 72,163,013 (GRCm39) |
H672R |
probably damaging |
Het |
Fras1 |
G |
C |
5: 96,891,017 (GRCm39) |
D2849H |
probably damaging |
Het |
Hdc |
C |
T |
2: 126,458,181 (GRCm39) |
R47Q |
possibly damaging |
Het |
Ighv1-30 |
C |
T |
12: 114,781,021 (GRCm39) |
|
noncoding transcript |
Het |
Krtap31-1 |
T |
C |
11: 99,799,058 (GRCm39) |
I87T |
possibly damaging |
Het |
Lamp3 |
A |
G |
16: 19,519,466 (GRCm39) |
L239P |
possibly damaging |
Het |
Ltb4r2 |
A |
T |
14: 56,000,398 (GRCm39) |
R340W |
probably benign |
Het |
Map10 |
T |
C |
8: 126,398,584 (GRCm39) |
V659A |
probably benign |
Het |
Nars2 |
T |
A |
7: 96,607,301 (GRCm39) |
S91T |
probably damaging |
Het |
Nlrp4c |
A |
G |
7: 6,075,709 (GRCm39) |
K667E |
probably benign |
Het |
Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
Or5b3 |
G |
A |
19: 13,388,299 (GRCm39) |
R122H |
possibly damaging |
Het |
Osgin1 |
A |
C |
8: 120,171,772 (GRCm39) |
S189R |
possibly damaging |
Het |
Pidd1 |
A |
G |
7: 141,020,739 (GRCm39) |
F453L |
probably damaging |
Het |
Pik3c2g |
A |
T |
6: 139,798,589 (GRCm39) |
N373I |
probably damaging |
Het |
Pou2f2 |
T |
C |
7: 24,796,713 (GRCm39) |
T270A |
probably damaging |
Het |
Rad51b |
T |
G |
12: 79,361,656 (GRCm39) |
S122R |
probably damaging |
Het |
Rev1 |
T |
G |
1: 38,093,319 (GRCm39) |
K1075T |
possibly damaging |
Het |
Rrbp1 |
T |
G |
2: 143,805,030 (GRCm39) |
Q1045P |
probably benign |
Het |
Scg2 |
A |
C |
1: 79,414,574 (GRCm39) |
F50V |
probably damaging |
Het |
Slco1a5 |
A |
T |
6: 142,213,950 (GRCm39) |
I57K |
possibly damaging |
Het |
Tfb1m |
T |
A |
17: 3,571,945 (GRCm39) |
R257W |
probably damaging |
Het |
Tm2d3 |
T |
A |
7: 65,347,498 (GRCm39) |
L49* |
probably null |
Het |
Usp31 |
A |
G |
7: 121,267,005 (GRCm39) |
|
probably null |
Het |
Zbtb11 |
C |
T |
16: 55,818,427 (GRCm39) |
T617I |
possibly damaging |
Het |
Zfp608 |
A |
T |
18: 55,031,180 (GRCm39) |
V920E |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGACTCCGAATTATGTGCTC -3'
(R):5'- GAATCTCAAACTGACTTAGCAGTAGC -3'
Sequencing Primer
(F):5'- AACTTTATCTGCCTCAGTACAGGGG -3'
(R):5'- GCAGTAGCTGAAGTTCCAGTC -3'
|
Posted On |
2015-05-15 |