Incidental Mutation 'R3793:Ovgp1'
ID |
272637 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ovgp1
|
Ensembl Gene |
ENSMUSG00000074340 |
Gene Name |
oviductal glycoprotein 1 |
Synonyms |
oviductin, Chit5, OGP, muc9, MOGP, mucin 9 |
MMRRC Submission |
040755-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3793 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
105881118-105894739 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 105887487 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 266
(N266S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000573
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000573]
[ENSMUST00000163626]
|
AlphaFold |
Q62010 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000573
AA Change: N266S
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000000573 Gene: ENSMUSG00000074340 AA Change: N266S
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
|
SMART Domains |
Protein: ENSMUSP00000132424 Gene: ENSMUSG00000074340
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.4%
|
Validation Efficiency |
98% (50/51) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
A |
G |
7: 75,259,889 (GRCm39) |
T35A |
probably benign |
Het |
Arhgap32 |
T |
A |
9: 32,166,669 (GRCm39) |
S435R |
probably damaging |
Het |
Asic1 |
A |
T |
15: 99,569,906 (GRCm39) |
K76* |
probably null |
Het |
B9d1 |
A |
G |
11: 61,398,448 (GRCm39) |
|
probably benign |
Het |
Casd1 |
T |
C |
6: 4,619,876 (GRCm39) |
V207A |
possibly damaging |
Het |
Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
Cnfn |
T |
C |
7: 25,067,805 (GRCm39) |
N45S |
probably benign |
Het |
Col14a1 |
G |
T |
15: 55,226,909 (GRCm39) |
D220Y |
unknown |
Het |
Csn1s1 |
T |
A |
5: 87,828,702 (GRCm39) |
Y274* |
probably null |
Het |
Cyp2c69 |
T |
C |
19: 39,869,600 (GRCm39) |
T140A |
probably benign |
Het |
Dlg2 |
A |
T |
7: 91,459,743 (GRCm39) |
|
probably benign |
Het |
Esp16 |
T |
C |
17: 39,848,739 (GRCm39) |
I11T |
possibly damaging |
Het |
Esyt3 |
A |
T |
9: 99,197,334 (GRCm39) |
F832Y |
possibly damaging |
Het |
Ift172 |
C |
T |
5: 31,414,925 (GRCm39) |
D1366N |
possibly damaging |
Het |
Itga4 |
A |
G |
2: 79,109,472 (GRCm39) |
T224A |
probably benign |
Het |
Itprid1 |
A |
T |
6: 55,952,588 (GRCm39) |
M844L |
possibly damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Krt71 |
C |
T |
15: 101,651,345 (GRCm39) |
S46N |
probably damaging |
Het |
Lhx1 |
A |
G |
11: 84,412,726 (GRCm39) |
S65P |
probably benign |
Het |
Lingo4 |
A |
G |
3: 94,309,685 (GRCm39) |
S208G |
probably benign |
Het |
Lrrc2 |
T |
A |
9: 110,795,585 (GRCm39) |
C123* |
probably null |
Het |
Nfrkb |
A |
T |
9: 31,321,228 (GRCm39) |
|
probably benign |
Het |
Nfx1 |
T |
A |
4: 41,004,357 (GRCm39) |
C709* |
probably null |
Het |
Nlrp14 |
A |
T |
7: 106,781,481 (GRCm39) |
Q226L |
probably benign |
Het |
Ocln |
T |
C |
13: 100,635,402 (GRCm39) |
R496G |
possibly damaging |
Het |
Or2b2b |
T |
C |
13: 21,859,153 (GRCm39) |
|
probably null |
Het |
Or7e173 |
T |
A |
9: 19,938,359 (GRCm39) |
I292F |
probably damaging |
Het |
Osgepl1 |
T |
C |
1: 53,359,406 (GRCm39) |
I305T |
probably damaging |
Het |
Per1 |
A |
G |
11: 69,000,127 (GRCm39) |
E1273G |
probably benign |
Het |
Plch1 |
A |
G |
3: 63,605,252 (GRCm39) |
Y1542H |
probably damaging |
Het |
Pold1 |
A |
G |
7: 44,190,994 (GRCm39) |
F252L |
probably damaging |
Het |
Ptk2b |
A |
T |
14: 66,407,700 (GRCm39) |
D607E |
probably damaging |
Het |
Sdf4 |
T |
A |
4: 156,086,916 (GRCm39) |
|
probably null |
Het |
Sirt4 |
T |
C |
5: 115,618,351 (GRCm39) |
D241G |
probably benign |
Het |
Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
Slco1b2 |
A |
G |
6: 141,622,033 (GRCm39) |
Y531C |
probably damaging |
Het |
Tmem200a |
A |
T |
10: 25,870,087 (GRCm39) |
S61T |
probably damaging |
Het |
Trp53bp1 |
T |
C |
2: 121,030,810 (GRCm39) |
I1784V |
probably damaging |
Het |
Uba2 |
A |
C |
7: 33,845,722 (GRCm39) |
V467G |
probably damaging |
Het |
Ubr3 |
T |
C |
2: 69,747,525 (GRCm39) |
S263P |
possibly damaging |
Het |
Ugt2b35 |
A |
G |
5: 87,149,465 (GRCm39) |
T239A |
probably benign |
Het |
Wac |
T |
C |
18: 7,920,190 (GRCm39) |
V348A |
possibly damaging |
Het |
Wdr3 |
A |
T |
3: 100,059,281 (GRCm39) |
M346K |
probably benign |
Het |
Zfp607a |
A |
T |
7: 27,578,331 (GRCm39) |
H467L |
probably benign |
Het |
|
Other mutations in Ovgp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00973:Ovgp1
|
APN |
3 |
105,888,593 (GRCm39) |
nonsense |
probably null |
|
IGL01152:Ovgp1
|
APN |
3 |
105,893,488 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01458:Ovgp1
|
APN |
3 |
105,882,307 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01646:Ovgp1
|
APN |
3 |
105,885,665 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01768:Ovgp1
|
APN |
3 |
105,888,667 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02712:Ovgp1
|
APN |
3 |
105,893,829 (GRCm39) |
unclassified |
probably benign |
|
IGL03065:Ovgp1
|
APN |
3 |
105,893,682 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03140:Ovgp1
|
APN |
3 |
105,887,222 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03272:Ovgp1
|
APN |
3 |
105,888,641 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4472001:Ovgp1
|
UTSW |
3 |
105,894,306 (GRCm39) |
missense |
unknown |
|
R0277:Ovgp1
|
UTSW |
3 |
105,887,208 (GRCm39) |
intron |
probably benign |
|
R0560:Ovgp1
|
UTSW |
3 |
105,893,726 (GRCm39) |
unclassified |
probably benign |
|
R0718:Ovgp1
|
UTSW |
3 |
105,882,146 (GRCm39) |
splice site |
probably benign |
|
R0743:Ovgp1
|
UTSW |
3 |
105,882,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R1362:Ovgp1
|
UTSW |
3 |
105,893,891 (GRCm39) |
unclassified |
probably benign |
|
R1556:Ovgp1
|
UTSW |
3 |
105,894,068 (GRCm39) |
unclassified |
probably benign |
|
R1776:Ovgp1
|
UTSW |
3 |
105,885,114 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1831:Ovgp1
|
UTSW |
3 |
105,892,384 (GRCm39) |
missense |
probably benign |
0.04 |
R1986:Ovgp1
|
UTSW |
3 |
105,882,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R2004:Ovgp1
|
UTSW |
3 |
105,894,309 (GRCm39) |
unclassified |
probably benign |
|
R2156:Ovgp1
|
UTSW |
3 |
105,885,033 (GRCm39) |
missense |
possibly damaging |
0.49 |
R2254:Ovgp1
|
UTSW |
3 |
105,894,228 (GRCm39) |
unclassified |
probably benign |
|
R2860:Ovgp1
|
UTSW |
3 |
105,893,883 (GRCm39) |
unclassified |
probably benign |
|
R2861:Ovgp1
|
UTSW |
3 |
105,893,883 (GRCm39) |
unclassified |
probably benign |
|
R3117:Ovgp1
|
UTSW |
3 |
105,893,768 (GRCm39) |
unclassified |
probably benign |
|
R3835:Ovgp1
|
UTSW |
3 |
105,893,631 (GRCm39) |
missense |
probably benign |
0.00 |
R3894:Ovgp1
|
UTSW |
3 |
105,893,912 (GRCm39) |
unclassified |
probably benign |
|
R3894:Ovgp1
|
UTSW |
3 |
105,893,883 (GRCm39) |
unclassified |
probably benign |
|
R3895:Ovgp1
|
UTSW |
3 |
105,893,912 (GRCm39) |
unclassified |
probably benign |
|
R4050:Ovgp1
|
UTSW |
3 |
105,893,912 (GRCm39) |
unclassified |
probably benign |
|
R4050:Ovgp1
|
UTSW |
3 |
105,893,883 (GRCm39) |
unclassified |
probably benign |
|
R4467:Ovgp1
|
UTSW |
3 |
105,885,027 (GRCm39) |
missense |
probably benign |
0.04 |
R4611:Ovgp1
|
UTSW |
3 |
105,893,883 (GRCm39) |
unclassified |
probably benign |
|
R4628:Ovgp1
|
UTSW |
3 |
105,887,639 (GRCm39) |
splice site |
probably null |
|
R4738:Ovgp1
|
UTSW |
3 |
105,887,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R4944:Ovgp1
|
UTSW |
3 |
105,887,269 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5110:Ovgp1
|
UTSW |
3 |
105,885,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R6531:Ovgp1
|
UTSW |
3 |
105,894,387 (GRCm39) |
unclassified |
probably benign |
|
R6540:Ovgp1
|
UTSW |
3 |
105,893,897 (GRCm39) |
nonsense |
probably null |
|
R6562:Ovgp1
|
UTSW |
3 |
105,887,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R6601:Ovgp1
|
UTSW |
3 |
105,893,747 (GRCm39) |
unclassified |
probably benign |
|
R6906:Ovgp1
|
UTSW |
3 |
105,894,189 (GRCm39) |
unclassified |
probably benign |
|
R7313:Ovgp1
|
UTSW |
3 |
105,894,387 (GRCm39) |
missense |
unknown |
|
R7430:Ovgp1
|
UTSW |
3 |
105,893,619 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7430:Ovgp1
|
UTSW |
3 |
105,893,618 (GRCm39) |
missense |
probably damaging |
0.99 |
R7566:Ovgp1
|
UTSW |
3 |
105,881,626 (GRCm39) |
start gained |
probably benign |
|
R7684:Ovgp1
|
UTSW |
3 |
105,887,272 (GRCm39) |
missense |
probably damaging |
0.99 |
R7805:Ovgp1
|
UTSW |
3 |
105,894,110 (GRCm39) |
missense |
unknown |
|
R7820:Ovgp1
|
UTSW |
3 |
105,893,837 (GRCm39) |
unclassified |
probably benign |
|
R7919:Ovgp1
|
UTSW |
3 |
105,888,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R8039:Ovgp1
|
UTSW |
3 |
105,883,339 (GRCm39) |
missense |
probably benign |
0.26 |
R8483:Ovgp1
|
UTSW |
3 |
105,894,311 (GRCm39) |
unclassified |
probably benign |
|
R9259:Ovgp1
|
UTSW |
3 |
105,893,883 (GRCm39) |
unclassified |
probably benign |
|
R9261:Ovgp1
|
UTSW |
3 |
105,893,883 (GRCm39) |
unclassified |
probably benign |
|
R9262:Ovgp1
|
UTSW |
3 |
105,893,883 (GRCm39) |
unclassified |
probably benign |
|
R9359:Ovgp1
|
UTSW |
3 |
105,893,883 (GRCm39) |
unclassified |
probably benign |
|
R9389:Ovgp1
|
UTSW |
3 |
105,893,841 (GRCm39) |
unclassified |
probably benign |
|
R9390:Ovgp1
|
UTSW |
3 |
105,893,883 (GRCm39) |
unclassified |
probably benign |
|
R9444:Ovgp1
|
UTSW |
3 |
105,893,841 (GRCm39) |
unclassified |
probably benign |
|
R9445:Ovgp1
|
UTSW |
3 |
105,893,883 (GRCm39) |
unclassified |
probably benign |
|
R9466:Ovgp1
|
UTSW |
3 |
105,887,484 (GRCm39) |
missense |
|
|
R9586:Ovgp1
|
UTSW |
3 |
105,881,138 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1177:Ovgp1
|
UTSW |
3 |
105,894,156 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTCCCGAAGACTCCAAATCTTCAG -3'
(R):5'- GGGAGGGACTGTAACTCTTCAG -3'
Sequencing Primer
(F):5'- TCTTCAGTAAGTAAAGGGAAGGTCTC -3'
(R):5'- GGGACTGTAACTCTTCAGACTTTAC -3'
|
Posted On |
2015-03-25 |