Incidental Mutation 'R7430:Ovgp1'
ID |
576377 |
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 |
045508-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7430 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
105881118-105894739 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 105893619 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 464
(A464V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000573
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000573]
[ENSMUST00000163626]
|
AlphaFold |
Q62010 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000573
AA Change: A464V
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000000573 Gene: ENSMUSG00000074340 AA Change: A464V
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 |
probably benign
Transcript: ENSMUST00000163626
|
SMART Domains |
Protein: ENSMUSP00000132424 Gene: ENSMUSG00000074340
Domain | Start | End | E-Value | Type |
Glyco_18
|
9 |
226 |
8.52e-21 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
G |
C |
17: 24,583,932 (GRCm39) |
|
probably null |
Het |
Ankrd17 |
C |
G |
5: 90,443,516 (GRCm39) |
E384Q |
possibly damaging |
Het |
Atp8b4 |
A |
T |
2: 126,245,291 (GRCm39) |
V286E |
possibly damaging |
Het |
BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
BC028528 |
ACTGGTTCTGTGGTC |
ACTGGTTCTGTGGTCTCTGGTTCTGTGGTC |
3: 95,795,481 (GRCm39) |
|
probably benign |
Het |
Brms1l |
T |
C |
12: 55,892,084 (GRCm39) |
L126P |
probably damaging |
Het |
C2cd4d |
G |
A |
3: 94,271,657 (GRCm39) |
V308M |
possibly damaging |
Het |
Calcr |
A |
G |
6: 3,708,586 (GRCm39) |
L200S |
probably damaging |
Het |
Card6 |
G |
T |
15: 5,128,682 (GRCm39) |
Q905K |
probably benign |
Het |
Chka |
A |
G |
19: 3,942,787 (GRCm39) |
Y415C |
probably damaging |
Het |
Cimap3 |
T |
C |
3: 105,921,834 (GRCm39) |
R30G |
probably benign |
Het |
Cnih1 |
C |
T |
14: 47,017,679 (GRCm39) |
V52I |
possibly damaging |
Het |
Cox4i1 |
T |
A |
8: 121,400,770 (GRCm39) |
M145K |
probably damaging |
Het |
Cubn |
G |
T |
2: 13,327,804 (GRCm39) |
R2674S |
possibly damaging |
Het |
Cyfip1 |
A |
G |
7: 55,550,341 (GRCm39) |
E692G |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,925,363 (GRCm39) |
F1266S |
probably damaging |
Het |
Edc4 |
T |
C |
8: 106,618,216 (GRCm39) |
S1245P |
probably damaging |
Het |
Enpp1 |
G |
T |
10: 24,587,848 (GRCm39) |
H14Q |
probably benign |
Het |
Fam181b |
G |
A |
7: 92,729,403 (GRCm39) |
V59M |
probably benign |
Het |
Fat4 |
T |
A |
3: 38,941,599 (GRCm39) |
I164N |
probably damaging |
Het |
Fat4 |
A |
G |
3: 39,063,793 (GRCm39) |
D4583G |
probably damaging |
Het |
Fgb |
C |
T |
3: 82,954,014 (GRCm39) |
V75I |
probably benign |
Het |
Fign |
T |
C |
2: 63,809,404 (GRCm39) |
D622G |
probably damaging |
Het |
Frmd3 |
A |
G |
4: 74,063,342 (GRCm39) |
D223G |
probably damaging |
Het |
Gclm |
G |
A |
3: 122,039,729 (GRCm39) |
R32Q |
probably benign |
Het |
Grsf1 |
A |
T |
5: 88,811,086 (GRCm39) |
I428N |
possibly damaging |
Het |
Hnrnpll |
T |
A |
17: 80,357,276 (GRCm39) |
I247F |
probably damaging |
Het |
Hscb |
T |
A |
5: 110,977,024 (GRCm39) |
I223L |
probably benign |
Het |
Ifi204 |
C |
T |
1: 173,583,247 (GRCm39) |
A324T |
probably benign |
Het |
Itgav |
G |
A |
2: 83,624,602 (GRCm39) |
V731M |
probably damaging |
Het |
Loricrin |
C |
T |
3: 91,989,206 (GRCm39) |
G27S |
unknown |
Het |
Lpin3 |
A |
G |
2: 160,740,586 (GRCm39) |
D377G |
probably benign |
Het |
Marveld3 |
A |
G |
8: 110,675,100 (GRCm39) |
S239P |
possibly damaging |
Het |
Mast3 |
A |
C |
8: 71,232,947 (GRCm39) |
C1122G |
probably damaging |
Het |
Ms4a4d |
A |
G |
19: 11,535,297 (GRCm39) |
I198M |
probably benign |
Het |
Mup14 |
C |
T |
4: 61,259,447 (GRCm39) |
G35E |
probably damaging |
Het |
Myh1 |
C |
T |
11: 67,096,393 (GRCm39) |
Q291* |
probably null |
Het |
Myo1a |
T |
A |
10: 127,542,716 (GRCm39) |
V118E |
probably damaging |
Het |
Nfatc3 |
A |
G |
8: 106,835,035 (GRCm39) |
T794A |
probably benign |
Het |
Nkx6-2 |
T |
C |
7: 139,161,916 (GRCm39) |
T154A |
probably damaging |
Het |
Or51g2 |
A |
T |
7: 102,622,969 (GRCm39) |
S77T |
probably damaging |
Het |
Or7g16 |
T |
C |
9: 18,726,650 (GRCm39) |
*313W |
probably null |
Het |
Pde6c |
T |
A |
19: 38,129,887 (GRCm39) |
Y266N |
probably damaging |
Het |
Per2 |
C |
A |
1: 91,351,705 (GRCm39) |
E934* |
probably null |
Het |
Pgm1 |
T |
A |
4: 99,813,192 (GRCm39) |
M1K |
probably null |
Het |
Plcb4 |
T |
C |
2: 135,810,242 (GRCm39) |
Y626H |
probably damaging |
Het |
Postn |
T |
A |
3: 54,277,623 (GRCm39) |
V206D |
probably damaging |
Het |
Prss29 |
T |
A |
17: 25,540,113 (GRCm39) |
|
probably null |
Het |
Ptges3l |
C |
A |
11: 101,314,641 (GRCm39) |
V85L |
possibly damaging |
Het |
Riok2 |
T |
C |
17: 17,607,802 (GRCm39) |
L450S |
probably benign |
Het |
Rpap3 |
A |
T |
15: 97,586,031 (GRCm39) |
L320Q |
possibly damaging |
Het |
Rptor |
T |
C |
11: 119,737,654 (GRCm39) |
W576R |
probably damaging |
Het |
Sgk3 |
A |
G |
1: 9,942,483 (GRCm39) |
D85G |
probably benign |
Het |
Slc2a1 |
A |
G |
4: 118,993,510 (GRCm39) |
Y449C |
probably damaging |
Het |
Slco1a5 |
A |
T |
6: 142,194,438 (GRCm39) |
S402T |
probably benign |
Het |
Smad2 |
T |
A |
18: 76,421,151 (GRCm39) |
V160E |
probably damaging |
Het |
Snx13 |
T |
C |
12: 35,183,357 (GRCm39) |
V760A |
possibly damaging |
Het |
Sugt1 |
T |
A |
14: 79,857,241 (GRCm39) |
|
probably null |
Het |
Syne2 |
C |
T |
12: 75,980,770 (GRCm39) |
T1509M |
probably damaging |
Het |
Syne2 |
T |
A |
12: 76,087,184 (GRCm39) |
L214* |
probably null |
Het |
Tmem120a |
T |
A |
5: 135,764,990 (GRCm39) |
|
probably null |
Het |
Tmem161b |
A |
G |
13: 84,430,866 (GRCm39) |
|
probably null |
Het |
Trim33 |
T |
C |
3: 103,218,219 (GRCm39) |
I256T |
possibly damaging |
Het |
Tspan17 |
G |
A |
13: 54,943,785 (GRCm39) |
E213K |
probably benign |
Het |
Ttc6 |
T |
A |
12: 57,704,888 (GRCm39) |
I631N |
probably benign |
Het |
Ttn |
T |
A |
2: 76,641,283 (GRCm39) |
L13574F |
probably damaging |
Het |
Tufm |
A |
G |
7: 126,088,299 (GRCm39) |
D228G |
probably benign |
Het |
Usf1 |
T |
A |
1: 171,245,295 (GRCm39) |
S236T |
probably benign |
Het |
Usp39 |
T |
C |
6: 72,319,900 (GRCm39) |
Y106C |
probably damaging |
Het |
Usp46 |
T |
A |
5: 74,163,849 (GRCm39) |
Y296F |
probably damaging |
Het |
Vmn2r82 |
A |
G |
10: 79,217,087 (GRCm39) |
N473S |
probably damaging |
Het |
Washc5 |
A |
T |
15: 59,241,762 (GRCm39) |
Y51* |
probably null |
Het |
Zbtb47 |
G |
A |
9: 121,592,732 (GRCm39) |
D351N |
probably benign |
Het |
Zfp763 |
T |
A |
17: 33,238,506 (GRCm39) |
Y213F |
possibly damaging |
Het |
Zswim5 |
A |
G |
4: 116,833,054 (GRCm39) |
T596A |
possibly damaging |
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 |
|
R3793:Ovgp1
|
UTSW |
3 |
105,887,487 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
105,893,618 (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'- GGCTCTGAGAATACAGCCTTG -3'
(R):5'- CAGTGGTGGTCTTAGAAACCC -3'
Sequencing Primer
(F):5'- TACAGCCTTGACAGAGGTATTGAC -3'
(R):5'- CCTTAGAAATCTCAGGGATGGTC -3'
|
Posted On |
2019-10-07 |