Incidental Mutation 'R5882:Obox3'
ID |
454468 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Obox3
|
Ensembl Gene |
ENSMUSG00000066772 |
Gene Name |
oocyte specific homeobox 3 |
Synonyms |
Ohx |
MMRRC Submission |
043236-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.177)
|
Stock # |
R5882 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
15359231-15373702 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 15360893 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 82
(V82A)
|
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: V82A
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000083291 Gene: ENSMUSG00000066772 AA Change: V82A
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000095217
AA Change: V82A
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000092842 Gene: ENSMUSG00000066772 AA Change: V82A
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173395
AA Change: V82A
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000133788 Gene: ENSMUSG00000066772 AA Change: V82A
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173912
AA Change: V82A
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000133427 Gene: ENSMUSG00000066772 AA Change: V82A
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174151
AA Change: V82A
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000133814 Gene: ENSMUSG00000066772 AA Change: V82A
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174443
AA Change: V82A
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000134531 Gene: ENSMUSG00000066772 AA Change: V82A
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
1.84e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174842
AA Change: V82A
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000134526 Gene: ENSMUSG00000066772 AA Change: V82A
Domain | Start | End | E-Value | Type |
HOX
|
94 |
151 |
1.46e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182148
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 96.5%
- 20x: 86.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apol7e |
T |
A |
15: 77,602,447 (GRCm39) |
H348Q |
probably benign |
Het |
Cacna1g |
T |
A |
11: 94,350,645 (GRCm39) |
E400V |
probably damaging |
Het |
Cyp2j6 |
T |
A |
4: 96,423,839 (GRCm39) |
K176N |
probably benign |
Het |
Dcaf4 |
T |
C |
12: 83,586,203 (GRCm39) |
V377A |
probably damaging |
Het |
Dennd1a |
A |
G |
2: 37,851,675 (GRCm39) |
L71P |
probably damaging |
Het |
Dmbx1 |
G |
T |
4: 115,777,498 (GRCm39) |
R117S |
probably damaging |
Het |
Ep400 |
A |
G |
5: 110,903,453 (GRCm39) |
V382A |
probably benign |
Het |
Kars1 |
G |
A |
8: 112,730,057 (GRCm39) |
R107* |
probably null |
Het |
Kif16b |
C |
T |
2: 142,549,178 (GRCm39) |
|
probably null |
Het |
Lrrc69 |
A |
G |
4: 14,708,690 (GRCm39) |
F218S |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,760,422 (GRCm39) |
Y1158C |
probably damaging |
Het |
Myom1 |
G |
C |
17: 71,417,717 (GRCm39) |
A1307P |
probably damaging |
Het |
Nacad |
C |
T |
11: 6,548,568 (GRCm39) |
V1389I |
possibly damaging |
Het |
Nit2 |
T |
C |
16: 56,979,829 (GRCm39) |
D132G |
probably benign |
Het |
Nln |
G |
T |
13: 104,196,006 (GRCm39) |
D60E |
probably benign |
Het |
Oas1f |
G |
A |
5: 120,986,316 (GRCm39) |
E90K |
probably damaging |
Het |
Or4k35 |
A |
T |
2: 111,100,484 (GRCm39) |
V76E |
probably damaging |
Het |
Or8b12 |
C |
T |
9: 37,657,928 (GRCm39) |
T166I |
probably benign |
Het |
Pcdhb1 |
A |
T |
18: 37,400,230 (GRCm39) |
Q727L |
probably benign |
Het |
Phactr1 |
G |
T |
13: 42,863,327 (GRCm39) |
|
probably null |
Het |
Prkg1 |
A |
T |
19: 31,563,097 (GRCm39) |
N116K |
probably damaging |
Het |
Scnn1g |
A |
T |
7: 121,366,581 (GRCm39) |
S593C |
possibly damaging |
Het |
Serpina6 |
T |
C |
12: 103,620,494 (GRCm39) |
N85S |
probably benign |
Het |
Spock3 |
A |
G |
8: 63,596,965 (GRCm39) |
T93A |
probably benign |
Het |
St7 |
T |
C |
6: 17,846,248 (GRCm39) |
L121P |
probably damaging |
Het |
Stoml2 |
G |
C |
4: 43,031,003 (GRCm39) |
R57G |
probably damaging |
Het |
Tdrd1 |
C |
T |
19: 56,837,371 (GRCm39) |
R532C |
probably damaging |
Het |
Tmc5 |
A |
G |
7: 118,254,142 (GRCm39) |
N660S |
probably damaging |
Het |
Tmem38a |
A |
G |
8: 73,339,731 (GRCm39) |
H233R |
probably damaging |
Het |
Trp53bp2 |
T |
C |
1: 182,269,777 (GRCm39) |
V304A |
possibly damaging |
Het |
Ush1g |
C |
A |
11: 115,209,368 (GRCm39) |
M275I |
probably damaging |
Het |
Zfp882 |
A |
T |
8: 72,667,303 (GRCm39) |
|
probably null |
Het |
Zim1 |
A |
T |
7: 6,685,737 (GRCm39) |
|
probably null |
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 |
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 |
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'- AAAGCAGAGATTGTTGCTGTTG -3'
(R):5'- CAGCAAGAGTCTCAAGGACC -3'
Sequencing Primer
(F):5'- AGAGAGAAGCTAACCTTGATCTC -3'
(R):5'- AGAGTCTCAAGGACCAACAAG -3'
|
Posted On |
2017-02-10 |