Incidental Mutation 'IGL03272:Ovgp1'
ID | 415292 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ovgp1
|
Ensembl Gene |
ENSMUSG00000074340 |
Gene Name | oviductal glycoprotein 1 |
Synonyms | Chit5, MOGP, muc9, mucin 9, OGP, oviductin |
Accession Numbers | |
Is this an essential gene? |
Non essential (E-score: 0.000)
|
Stock # | IGL03272
|
Quality Score | |
Status |
|
Chromosome | 3 |
Chromosomal Location | 105973711-105987423 bp(+) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
T to A
at 105981325 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 332
(D332E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000573
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000573]
[ENSMUST00000163626]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000573
AA Change: D332E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000000573 Gene: ENSMUSG00000074340 AA Change: D332E
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
Glyco_18
|
22 |
360 |
1.38e-134 |
SMART |
low complexity region
|
486 |
515 |
N/A |
INTRINSIC |
low complexity region
|
533 |
626 |
N/A |
INTRINSIC |
low complexity region
|
637 |
648 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000092878
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137168
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163626
AA Change: M221K
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000132424 Gene: ENSMUSG00000074340 AA Change: M221K
Domain | Start | End | E-Value | Type |
Glyco_18
|
9 |
226 |
8.52e-21 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164055
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167642
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large, carbohydrate-rich, epithelial glycoprotein with numerous O-glycosylation sites located within threonine, serine, and proline-rich tandem repeats. The gene is similar to members of the mucin and the glycosyl hydrolase 18 gene families. Regulation of expression may be estrogen-dependent. Gene expression and protein secretion occur during late follicular development through early cleavage-stage embryonic development. The protein is secreted from non-ciliated oviductal epithelial cells and associates with ovulated oocytes, blastomeres, and spermatozoan acrosomal regions. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene show no phenotypic abnormalities. Female reproduction is essentially normal. [provided by MGI curators]
|
Allele List at MGI | |
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530099J19Rik |
A |
T |
13: 19,729,537 |
|
noncoding transcript |
Het |
Acp2 |
C |
T |
2: 91,204,233 |
|
probably benign |
Het |
B4galnt3 |
T |
C |
6: 120,216,306 |
D413G |
probably damaging |
Het |
Chd2 |
T |
C |
7: 73,453,166 |
D1357G |
possibly damaging |
Het |
Dsg1b |
T |
C |
18: 20,397,389 |
L367P |
probably benign |
Het |
Emsy |
A |
T |
7: 98,593,762 |
F1057I |
probably damaging |
Het |
Fam171a2 |
A |
T |
11: 102,444,118 |
F64L |
possibly damaging |
Het |
Fat4 |
T |
C |
3: 39,009,703 |
S4603P |
probably benign |
Het |
Fyco1 |
T |
C |
9: 123,829,603 |
T503A |
probably benign |
Het |
Gpr179 |
T |
C |
11: 97,336,593 |
T1579A |
possibly damaging |
Het |
Itgae |
T |
C |
11: 73,133,854 |
|
probably null |
Het |
Lrriq3 |
A |
T |
3: 155,101,058 |
I115F |
probably damaging |
Het |
Mmrn1 |
A |
G |
6: 60,988,435 |
D1149G |
probably damaging |
Het |
Mylk |
A |
C |
16: 34,979,189 |
K1650Q |
probably benign |
Het |
Nrap |
T |
C |
19: 56,345,568 |
|
probably benign |
Het |
Olfr193 |
A |
C |
16: 59,110,556 |
V18G |
probably benign |
Het |
Pou2f1 |
A |
T |
1: 165,896,480 |
I296K |
possibly damaging |
Het |
Psd4 |
A |
G |
2: 24,405,680 |
|
probably benign |
Het |
Satb2 |
T |
C |
1: 56,845,643 |
Q433R |
probably damaging |
Het |
Serpinb9f |
A |
T |
13: 33,327,916 |
N134I |
probably damaging |
Het |
Slc6a3 |
A |
G |
13: 73,540,929 |
N124S |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,214,144 |
N1360S |
probably benign |
Het |
Strc |
G |
A |
2: 121,371,751 |
T1212I |
probably damaging |
Het |
Tmtc3 |
T |
C |
10: 100,457,080 |
K472R |
probably benign |
Het |
|
Other mutations in Ovgp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00973:Ovgp1
|
APN |
3 |
105981277 |
nonsense |
probably null |
|
IGL01152:Ovgp1
|
APN |
3 |
105986172 |
missense |
possibly damaging |
0.94 |
IGL01458:Ovgp1
|
APN |
3 |
105974991 |
missense |
probably benign |
0.01 |
IGL01646:Ovgp1
|
APN |
3 |
105978349 |
missense |
probably damaging |
1.00 |
IGL01768:Ovgp1
|
APN |
3 |
105981351 |
critical splice donor site |
probably null |
|
IGL02712:Ovgp1
|
APN |
3 |
105986513 |
unclassified |
probably benign |
|
IGL03065:Ovgp1
|
APN |
3 |
105986366 |
missense |
probably benign |
0.01 |
IGL03140:Ovgp1
|
APN |
3 |
105979906 |
missense |
probably damaging |
1.00 |
PIT4472001:Ovgp1
|
UTSW |
3 |
105986990 |
missense |
unknown |
|
R0277:Ovgp1
|
UTSW |
3 |
105979892 |
intron |
probably benign |
|
R0560:Ovgp1
|
UTSW |
3 |
105986410 |
unclassified |
probably benign |
|
R0718:Ovgp1
|
UTSW |
3 |
105974830 |
splice site |
probably benign |
|
R0743:Ovgp1
|
UTSW |
3 |
105974932 |
missense |
probably damaging |
1.00 |
R1362:Ovgp1
|
UTSW |
3 |
105986575 |
unclassified |
probably benign |
|
R1556:Ovgp1
|
UTSW |
3 |
105986752 |
unclassified |
probably benign |
|
R1776:Ovgp1
|
UTSW |
3 |
105977798 |
missense |
possibly damaging |
0.52 |
R1831:Ovgp1
|
UTSW |
3 |
105985068 |
missense |
probably benign |
0.04 |
R1986:Ovgp1
|
UTSW |
3 |
105974935 |
missense |
probably damaging |
1.00 |
R2004:Ovgp1
|
UTSW |
3 |
105986993 |
unclassified |
probably benign |
|
R2156:Ovgp1
|
UTSW |
3 |
105977717 |
missense |
possibly damaging |
0.49 |
R2254:Ovgp1
|
UTSW |
3 |
105986912 |
unclassified |
probably benign |
|
R2860:Ovgp1
|
UTSW |
3 |
105986567 |
unclassified |
probably benign |
|
R2861:Ovgp1
|
UTSW |
3 |
105986567 |
unclassified |
probably benign |
|
R3117:Ovgp1
|
UTSW |
3 |
105986452 |
unclassified |
probably benign |
|
R3793:Ovgp1
|
UTSW |
3 |
105980171 |
missense |
probably benign |
0.03 |
R3835:Ovgp1
|
UTSW |
3 |
105986315 |
missense |
probably benign |
0.00 |
R3894:Ovgp1
|
UTSW |
3 |
105986567 |
unclassified |
probably benign |
|
R3894:Ovgp1
|
UTSW |
3 |
105986596 |
unclassified |
probably benign |
|
R3895:Ovgp1
|
UTSW |
3 |
105986596 |
unclassified |
probably benign |
|
R4050:Ovgp1
|
UTSW |
3 |
105986596 |
unclassified |
probably benign |
|
R4050:Ovgp1
|
UTSW |
3 |
105986567 |
unclassified |
probably benign |
|
R4467:Ovgp1
|
UTSW |
3 |
105977711 |
missense |
probably benign |
0.04 |
R4611:Ovgp1
|
UTSW |
3 |
105986567 |
unclassified |
probably benign |
|
R4628:Ovgp1
|
UTSW |
3 |
105980323 |
splice site |
probably null |
|
R4738:Ovgp1
|
UTSW |
3 |
105979918 |
missense |
probably damaging |
1.00 |
R4944:Ovgp1
|
UTSW |
3 |
105979953 |
missense |
possibly damaging |
0.66 |
R5110:Ovgp1
|
UTSW |
3 |
105977783 |
missense |
probably damaging |
1.00 |
R6531:Ovgp1
|
UTSW |
3 |
105987071 |
unclassified |
probably benign |
|
R6540:Ovgp1
|
UTSW |
3 |
105986581 |
nonsense |
probably null |
|
R6562:Ovgp1
|
UTSW |
3 |
105980273 |
missense |
probably damaging |
1.00 |
R6601:Ovgp1
|
UTSW |
3 |
105986431 |
unclassified |
probably benign |
|
R6906:Ovgp1
|
UTSW |
3 |
105986873 |
unclassified |
probably benign |
|
R7313:Ovgp1
|
UTSW |
3 |
105987071 |
missense |
unknown |
|
R7430:Ovgp1
|
UTSW |
3 |
105986302 |
missense |
probably damaging |
0.99 |
R7430:Ovgp1
|
UTSW |
3 |
105986303 |
missense |
possibly damaging |
0.62 |
R7566:Ovgp1
|
UTSW |
3 |
105974310 |
start gained |
probably benign |
|
R7684:Ovgp1
|
UTSW |
3 |
105979956 |
missense |
probably damaging |
0.99 |
R7805:Ovgp1
|
UTSW |
3 |
105986794 |
missense |
unknown |
|
R7820:Ovgp1
|
UTSW |
3 |
105986521 |
unclassified |
probably benign |
|
R7919:Ovgp1
|
UTSW |
3 |
105981285 |
missense |
probably damaging |
1.00 |
R8039:Ovgp1
|
UTSW |
3 |
105976023 |
missense |
probably benign |
0.26 |
R8483:Ovgp1
|
UTSW |
3 |
105986995 |
unclassified |
probably benign |
|
Z1177:Ovgp1
|
UTSW |
3 |
105986840 |
missense |
unknown |
|
|
Posted On | 2016-08-02 |