Incidental Mutation 'IGL02590:Obox5'
ID |
299686 |
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: 0.097)
|
Stock # |
IGL02590
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
15484295-15493199 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 15491517 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 19
(I19T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134468
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098802]
[ENSMUST00000173053]
[ENSMUST00000173455]
|
AlphaFold |
G3X9P6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098802
AA Change: I19T
PolyPhen 2
Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000096400 Gene: ENSMUSG00000074366 AA Change: I19T
Domain | Start | End | E-Value | Type |
low complexity region
|
62 |
74 |
N/A |
INTRINSIC |
HOX
|
94 |
156 |
2e-17 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173053
AA Change: I19T
PolyPhen 2
Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000134618 Gene: ENSMUSG00000074366 AA Change: I19T
Domain | Start | End | E-Value | Type |
low complexity region
|
62 |
74 |
N/A |
INTRINSIC |
HOX
|
94 |
156 |
2e-17 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173455
AA Change: I19T
PolyPhen 2
Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000134468 Gene: ENSMUSG00000074366 AA Change: I19T
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl3 |
A |
G |
4: 144,184,404 (GRCm39) |
F118S |
probably damaging |
Het |
Adam5 |
T |
G |
8: 25,234,151 (GRCm39) |
|
probably benign |
Het |
Bok |
T |
C |
1: 93,614,397 (GRCm39) |
|
probably benign |
Het |
C1s1 |
C |
T |
6: 124,508,235 (GRCm39) |
V585I |
possibly damaging |
Het |
Chd2 |
C |
T |
7: 73,102,948 (GRCm39) |
V1346I |
probably benign |
Het |
Cyb5a |
A |
T |
18: 84,889,732 (GRCm39) |
T54S |
probably benign |
Het |
Dnah7b |
A |
T |
1: 46,162,937 (GRCm39) |
T428S |
probably benign |
Het |
Efhc1 |
T |
C |
1: 21,037,608 (GRCm39) |
Y262H |
probably damaging |
Het |
Fyb2 |
A |
T |
4: 104,836,250 (GRCm39) |
I404F |
probably damaging |
Het |
Glra2 |
T |
C |
X: 164,037,222 (GRCm39) |
N237S |
probably benign |
Het |
Gypc |
A |
G |
18: 32,663,060 (GRCm39) |
*96R |
probably null |
Het |
Il15 |
T |
C |
8: 83,069,912 (GRCm39) |
I51V |
probably benign |
Het |
Itgb2 |
T |
C |
10: 77,395,347 (GRCm39) |
C483R |
probably damaging |
Het |
Kdr |
C |
T |
5: 76,096,983 (GRCm39) |
D1272N |
probably benign |
Het |
Kif14 |
C |
A |
1: 136,423,742 (GRCm39) |
T969K |
probably benign |
Het |
Klhl42 |
T |
C |
6: 146,993,810 (GRCm39) |
S261P |
probably damaging |
Het |
Lrp1 |
C |
A |
10: 127,388,660 (GRCm39) |
G3263V |
probably damaging |
Het |
Mid1 |
A |
G |
X: 168,710,019 (GRCm39) |
E5G |
probably damaging |
Het |
Mmrn2 |
T |
A |
14: 34,121,224 (GRCm39) |
L698* |
probably null |
Het |
Myh14 |
T |
G |
7: 44,273,503 (GRCm39) |
Q1393P |
probably damaging |
Het |
Ncoa7 |
C |
T |
10: 30,570,159 (GRCm39) |
E267K |
probably damaging |
Het |
Or13a20 |
A |
G |
7: 140,232,305 (GRCm39) |
|
probably null |
Het |
Or8k22 |
A |
G |
2: 86,163,344 (GRCm39) |
S119P |
possibly damaging |
Het |
Pcnx1 |
A |
G |
12: 82,041,752 (GRCm39) |
Y2128C |
probably damaging |
Het |
Plcb1 |
A |
G |
2: 135,136,784 (GRCm39) |
D293G |
probably benign |
Het |
Prpf4b |
T |
C |
13: 35,072,129 (GRCm39) |
|
probably benign |
Het |
Psapl1 |
A |
T |
5: 36,362,397 (GRCm39) |
T330S |
probably benign |
Het |
Rap1gap |
A |
G |
4: 137,447,611 (GRCm39) |
T453A |
probably damaging |
Het |
Ric1 |
T |
A |
19: 29,544,881 (GRCm39) |
|
probably benign |
Het |
Robo1 |
A |
G |
16: 72,840,020 (GRCm39) |
E1590G |
probably benign |
Het |
Sorl1 |
C |
T |
9: 41,957,857 (GRCm39) |
V596I |
probably benign |
Het |
Tlr12 |
A |
G |
4: 128,511,182 (GRCm39) |
I356T |
probably benign |
Het |
Trav8d-2 |
T |
C |
14: 53,279,906 (GRCm39) |
S8P |
possibly damaging |
Het |
Tyms |
C |
A |
5: 30,269,149 (GRCm39) |
V75L |
probably benign |
Het |
Vmn1r230 |
T |
A |
17: 21,067,172 (GRCm39) |
S120R |
probably damaging |
Het |
Vmn2r84 |
T |
A |
10: 130,227,356 (GRCm39) |
|
probably benign |
Het |
Wdr27 |
C |
T |
17: 15,138,041 (GRCm39) |
A388T |
possibly 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 |
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 |
IGL03129:Obox5
|
APN |
7 |
15,492,684 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2015-04-16 |