Incidental Mutation 'R2394:Obox2'
ID |
247908 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Obox2
|
Ensembl Gene |
ENSMUSG00000074369 |
Gene Name |
oocyte specific homeobox 2 |
Synonyms |
|
MMRRC Submission |
040362-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.781)
|
Stock # |
R2394 (G1)
|
Quality Score |
174 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
15122776-15132470 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 15130935 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 56
(P56S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134275
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036575]
[ENSMUST00000172478]
[ENSMUST00000174076]
[ENSMUST00000174305]
[ENSMUST00000181001]
|
AlphaFold |
E9PXV9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036575
AA Change: P56S
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000042995 Gene: ENSMUSG00000074369 AA Change: P56S
Domain | Start | End | E-Value | Type |
Blast:HOX
|
94 |
124 |
3e-9 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172478
AA Change: P56S
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000133450 Gene: ENSMUSG00000074369 AA Change: P56S
Domain | Start | End | E-Value | Type |
Blast:HOX
|
94 |
124 |
3e-9 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174076
AA Change: P56S
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000133793 Gene: ENSMUSG00000074369 AA Change: P56S
Domain | Start | End | E-Value | Type |
Blast:HOX
|
94 |
124 |
3e-9 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174305
AA Change: P56S
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000134275 Gene: ENSMUSG00000074369 AA Change: P56S
Domain | Start | End | E-Value | Type |
Blast:HOX
|
94 |
124 |
3e-9 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000181001
|
SMART Domains |
Protein: ENSMUSP00000138010 Gene: ENSMUSG00000054310
Domain | Start | End | E-Value | Type |
HOX
|
94 |
156 |
2.18e-18 |
SMART |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (41/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020L13Rik |
A |
T |
7: 29,980,053 (GRCm39) |
|
probably benign |
Het |
Abca17 |
T |
C |
17: 24,500,190 (GRCm39) |
|
probably null |
Het |
Atxn7 |
T |
C |
14: 14,100,237 (GRCm38) |
V641A |
probably damaging |
Het |
C3 |
G |
A |
17: 57,529,303 (GRCm39) |
Q30* |
probably null |
Het |
Ccdc162 |
A |
G |
10: 41,445,894 (GRCm39) |
I426T |
probably damaging |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
Cwc27 |
A |
C |
13: 104,932,942 (GRCm39) |
D253E |
probably benign |
Het |
Cyp1a1 |
T |
A |
9: 57,607,432 (GRCm39) |
V20D |
probably benign |
Het |
Dmbt1 |
T |
A |
7: 130,696,464 (GRCm39) |
Y892* |
probably null |
Het |
Dnhd1 |
T |
A |
7: 105,369,438 (GRCm39) |
Y4354N |
probably benign |
Het |
Dync2li1 |
T |
A |
17: 84,952,175 (GRCm39) |
I202K |
possibly damaging |
Het |
Dyrk1a |
T |
A |
16: 94,485,991 (GRCm39) |
V446E |
probably benign |
Het |
Efcab3 |
C |
A |
11: 104,629,121 (GRCm39) |
T933K |
probably benign |
Het |
Fam186b |
T |
C |
15: 99,178,058 (GRCm39) |
I423V |
probably benign |
Het |
Gm5108 |
T |
C |
5: 68,132,475 (GRCm39) |
|
probably benign |
Het |
Htr3a |
A |
G |
9: 48,817,643 (GRCm39) |
V110A |
probably benign |
Het |
Itsn2 |
C |
A |
12: 4,757,005 (GRCm39) |
S1365Y |
possibly damaging |
Het |
Lrrc46 |
T |
C |
11: 96,929,657 (GRCm39) |
I60V |
probably damaging |
Het |
Mtrex |
A |
T |
13: 113,019,702 (GRCm39) |
Y803N |
probably benign |
Het |
Nlrp14 |
T |
C |
7: 106,797,031 (GRCm39) |
V307A |
probably benign |
Het |
Nt5c2 |
A |
G |
19: 46,878,506 (GRCm39) |
|
probably null |
Het |
Olfml2b |
A |
G |
1: 170,477,319 (GRCm39) |
I151M |
possibly damaging |
Het |
Oog3 |
T |
A |
4: 143,885,884 (GRCm39) |
D238V |
probably benign |
Het |
Pde11a |
T |
C |
2: 75,889,405 (GRCm39) |
T690A |
probably benign |
Het |
Ppa1 |
A |
G |
10: 61,508,163 (GRCm39) |
|
probably benign |
Het |
Ppfia2 |
A |
G |
10: 106,655,351 (GRCm39) |
E306G |
probably damaging |
Het |
Ppic |
G |
A |
18: 53,544,119 (GRCm39) |
R89C |
probably damaging |
Het |
Ptprk |
T |
G |
10: 28,427,713 (GRCm39) |
I764S |
probably damaging |
Het |
Ripk2 |
T |
C |
4: 16,132,774 (GRCm39) |
|
probably benign |
Het |
Rnf123 |
A |
G |
9: 107,940,735 (GRCm39) |
M702T |
probably benign |
Het |
Slco1b2 |
T |
C |
6: 141,615,100 (GRCm39) |
I335T |
probably damaging |
Het |
Ssbp1 |
T |
A |
6: 40,453,743 (GRCm39) |
D96E |
probably benign |
Het |
Tpp2 |
T |
A |
1: 44,022,346 (GRCm39) |
S915T |
possibly damaging |
Het |
Unc5c |
A |
T |
3: 141,383,892 (GRCm39) |
Q90L |
probably damaging |
Het |
Vmn2r57 |
A |
G |
7: 41,049,619 (GRCm39) |
I710T |
possibly damaging |
Het |
Wdr90 |
G |
A |
17: 26,070,429 (GRCm39) |
P1104L |
probably damaging |
Het |
|
Other mutations in Obox2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02798:Obox2
|
APN |
7 |
15,130,807 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1444:Obox2
|
UTSW |
7 |
15,130,957 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1620:Obox2
|
UTSW |
7 |
15,130,966 (GRCm39) |
missense |
probably benign |
0.36 |
R1993:Obox2
|
UTSW |
7 |
15,131,174 (GRCm39) |
missense |
probably benign |
0.00 |
R2397:Obox2
|
UTSW |
7 |
15,130,971 (GRCm39) |
missense |
probably benign |
0.02 |
R3702:Obox2
|
UTSW |
7 |
15,130,882 (GRCm39) |
missense |
probably benign |
0.03 |
R4926:Obox2
|
UTSW |
7 |
15,131,102 (GRCm39) |
splice site |
probably null |
|
R6878:Obox2
|
UTSW |
7 |
15,131,245 (GRCm39) |
missense |
probably benign |
0.02 |
R7373:Obox2
|
UTSW |
7 |
15,131,145 (GRCm39) |
nonsense |
probably null |
|
R7483:Obox2
|
UTSW |
7 |
15,131,241 (GRCm39) |
missense |
probably damaging |
0.97 |
R8017:Obox2
|
UTSW |
7 |
15,130,974 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8023:Obox2
|
UTSW |
7 |
15,131,145 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8295:Obox2
|
UTSW |
7 |
15,131,247 (GRCm39) |
missense |
probably benign |
0.00 |
R8682:Obox2
|
UTSW |
7 |
15,130,912 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9273:Obox2
|
UTSW |
7 |
15,131,290 (GRCm39) |
missense |
unknown |
|
R9340:Obox2
|
UTSW |
7 |
15,130,789 (GRCm39) |
missense |
probably damaging |
0.99 |
R9471:Obox2
|
UTSW |
7 |
15,131,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R9567:Obox2
|
UTSW |
7 |
15,130,771 (GRCm39) |
start codon destroyed |
probably null |
0.66 |
Z1088:Obox2
|
UTSW |
7 |
15,131,263 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1176:Obox2
|
UTSW |
7 |
15,131,121 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Predicted Primers |
PCR Primer
(F):5'- ACACAAATGGCGGAAGGTCC -3'
(R):5'- CGAAACTTTCTTGAAGCCATTGGG -3'
Sequencing Primer
(F):5'- GGTCCCTCCTTGCATCCAAAAC -3'
(R):5'- TCTGACAGTGGCATACAACCTATGG -3'
|
Posted On |
2014-11-11 |