Incidental Mutation 'IGL03129:Obox5'
ID |
410234 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Obox5
|
Ensembl Gene |
ENSMUSG00000074366 |
Gene Name |
oocyte specific homeobox 5 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
IGL03129
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
15484295-15493199 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 15492684 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 213
(L213Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096400
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098802]
[ENSMUST00000173053]
[ENSMUST00000173455]
|
AlphaFold |
G3X9P6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098802
AA Change: L213Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000096400 Gene: ENSMUSG00000074366 AA Change: L213Q
Domain | Start | End | E-Value | Type |
low complexity region
|
62 |
74 |
N/A |
INTRINSIC |
HOX
|
94 |
156 |
2e-17 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173053
|
SMART Domains |
Protein: ENSMUSP00000134618 Gene: ENSMUSG00000074366
Domain | Start | End | E-Value | Type |
low complexity region
|
62 |
74 |
N/A |
INTRINSIC |
HOX
|
94 |
156 |
2e-17 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173455
|
SMART Domains |
Protein: ENSMUSP00000134468 Gene: ENSMUSG00000074366
Domain | Start | End | E-Value | Type |
low complexity region
|
62 |
74 |
N/A |
INTRINSIC |
HOX
|
94 |
156 |
2e-17 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
A |
G |
5: 99,377,238 (GRCm39) |
V403A |
probably damaging |
Het |
Adpgk |
T |
C |
9: 59,221,088 (GRCm39) |
L298P |
probably damaging |
Het |
Akap6 |
A |
T |
12: 53,187,089 (GRCm39) |
D1501V |
probably damaging |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Ankhd1 |
T |
A |
18: 36,791,061 (GRCm39) |
Y2478* |
probably null |
Het |
Col6a3 |
A |
G |
1: 90,749,584 (GRCm39) |
Y417H |
probably damaging |
Het |
Csmd1 |
A |
G |
8: 16,011,521 (GRCm39) |
F2511L |
probably damaging |
Het |
Dzip3 |
T |
C |
16: 48,762,446 (GRCm39) |
M602V |
possibly damaging |
Het |
Efna2 |
G |
A |
10: 80,024,346 (GRCm39) |
|
probably null |
Het |
Fzd8 |
T |
C |
18: 9,214,270 (GRCm39) |
S451P |
probably damaging |
Het |
Galntl6 |
A |
T |
8: 58,880,750 (GRCm39) |
D134E |
probably damaging |
Het |
Grid2 |
T |
C |
6: 64,040,888 (GRCm39) |
S277P |
probably damaging |
Het |
Lcn2 |
A |
G |
2: 32,277,716 (GRCm39) |
V91A |
possibly damaging |
Het |
Lrp1b |
G |
A |
2: 41,202,478 (GRCm39) |
|
probably benign |
Het |
Lrrc7 |
T |
A |
3: 157,866,696 (GRCm39) |
Y1015F |
probably benign |
Het |
Mdn1 |
T |
A |
4: 32,729,994 (GRCm39) |
C2779S |
possibly damaging |
Het |
Nlrp10 |
A |
T |
7: 108,524,118 (GRCm39) |
F454Y |
probably damaging |
Het |
Or1o2 |
T |
A |
17: 37,543,087 (GRCm39) |
Y58F |
probably damaging |
Het |
Piezo2 |
T |
C |
18: 63,248,043 (GRCm39) |
M486V |
probably benign |
Het |
Plcg1 |
A |
C |
2: 160,616,446 (GRCm39) |
|
probably null |
Het |
Polr1b |
G |
A |
2: 128,957,627 (GRCm39) |
V561I |
probably benign |
Het |
Polr3c |
A |
T |
3: 96,626,770 (GRCm39) |
|
probably benign |
Het |
Prkg1 |
T |
A |
19: 30,562,681 (GRCm39) |
K523* |
probably null |
Het |
Prss3l |
T |
C |
6: 41,420,432 (GRCm39) |
N98S |
probably benign |
Het |
Sema3b |
T |
A |
9: 107,476,995 (GRCm39) |
|
probably benign |
Het |
Sp9 |
A |
G |
2: 73,103,865 (GRCm39) |
T140A |
probably benign |
Het |
Zfp507 |
T |
C |
7: 35,493,631 (GRCm39) |
R471G |
probably damaging |
Het |
|
Other mutations in Obox5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01151:Obox5
|
APN |
7 |
15,492,516 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL02105:Obox5
|
APN |
7 |
15,492,500 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02590:Obox5
|
APN |
7 |
15,491,517 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL02642:Obox5
|
APN |
7 |
15,491,972 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02700:Obox5
|
APN |
7 |
15,492,888 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0312:Obox5
|
UTSW |
7 |
15,491,485 (GRCm39) |
missense |
probably damaging |
0.98 |
R0463:Obox5
|
UTSW |
7 |
15,491,571 (GRCm39) |
missense |
probably damaging |
0.99 |
R0467:Obox5
|
UTSW |
7 |
15,491,932 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0899:Obox5
|
UTSW |
7 |
15,492,800 (GRCm39) |
missense |
probably benign |
0.04 |
R1574:Obox5
|
UTSW |
7 |
15,492,558 (GRCm39) |
missense |
probably damaging |
0.99 |
R1574:Obox5
|
UTSW |
7 |
15,492,558 (GRCm39) |
missense |
probably damaging |
0.99 |
R2017:Obox5
|
UTSW |
7 |
15,492,807 (GRCm39) |
missense |
probably benign |
0.02 |
R3711:Obox5
|
UTSW |
7 |
15,492,713 (GRCm39) |
missense |
probably benign |
0.33 |
R4391:Obox5
|
UTSW |
7 |
15,491,899 (GRCm39) |
nonsense |
probably null |
|
R5217:Obox5
|
UTSW |
7 |
15,491,793 (GRCm39) |
splice site |
probably null |
|
R5357:Obox5
|
UTSW |
7 |
15,491,463 (GRCm39) |
start codon destroyed |
probably null |
0.94 |
R5424:Obox5
|
UTSW |
7 |
15,492,807 (GRCm39) |
missense |
probably benign |
0.09 |
R5559:Obox5
|
UTSW |
7 |
15,491,522 (GRCm39) |
missense |
probably benign |
0.19 |
R6533:Obox5
|
UTSW |
7 |
15,491,532 (GRCm39) |
missense |
probably benign |
0.14 |
R7021:Obox5
|
UTSW |
7 |
15,491,681 (GRCm39) |
splice site |
probably null |
|
R7097:Obox5
|
UTSW |
7 |
15,492,732 (GRCm39) |
missense |
probably damaging |
0.99 |
R7122:Obox5
|
UTSW |
7 |
15,492,732 (GRCm39) |
missense |
probably damaging |
0.99 |
R7180:Obox5
|
UTSW |
7 |
15,491,849 (GRCm39) |
missense |
probably benign |
0.00 |
R7395:Obox5
|
UTSW |
7 |
15,492,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R7398:Obox5
|
UTSW |
7 |
15,492,713 (GRCm39) |
missense |
probably benign |
0.33 |
R8111:Obox5
|
UTSW |
7 |
15,492,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R9277:Obox5
|
UTSW |
7 |
15,491,877 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Posted On |
2016-08-02 |