Incidental Mutation 'R6562:Ovgp1'
| ID |
522420 |
| 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 |
044686-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6562 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
105881118-105894739 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105887589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 300
(Y300C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000573]
[ENSMUST00000163626]
|
| AlphaFold |
Q62010 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000573
AA Change: Y300C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000573
Gene: ENSMUSG00000074340
AA Change: Y300C
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
| Validation Efficiency |
100% (60/60) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
A |
G |
3: 89,970,543 (GRCm39) |
K26E |
probably benign |
Het |
| Abt1 |
T |
G |
13: 23,607,758 (GRCm39) |
E82A |
probably damaging |
Het |
| Actr8 |
A |
G |
14: 29,708,411 (GRCm39) |
|
probably null |
Het |
| Akap12 |
G |
T |
10: 4,306,141 (GRCm39) |
E984* |
probably null |
Het |
| Ankrd13a |
C |
A |
5: 114,942,453 (GRCm39) |
|
probably benign |
Het |
| Ankrd13c |
T |
A |
3: 157,705,309 (GRCm39) |
S411T |
probably damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,124,647 (GRCm39) |
|
probably null |
Het |
| Arhgef3 |
A |
T |
14: 26,874,953 (GRCm39) |
|
probably benign |
Het |
| Atad5 |
T |
C |
11: 80,024,032 (GRCm39) |
S1712P |
probably benign |
Het |
| Bbs12 |
A |
G |
3: 37,374,389 (GRCm39) |
E394G |
probably damaging |
Het |
| Ccdc158 |
T |
G |
5: 92,810,581 (GRCm39) |
K102N |
probably damaging |
Het |
| Ccdc169 |
A |
G |
3: 55,058,235 (GRCm39) |
N89S |
probably damaging |
Het |
| Cd200l1 |
C |
T |
16: 45,264,442 (GRCm39) |
E39K |
probably benign |
Het |
| Cenpu |
T |
C |
8: 47,025,858 (GRCm39) |
I132T |
possibly damaging |
Het |
| Cnrip1 |
G |
A |
11: 17,028,539 (GRCm39) |
W157* |
probably null |
Het |
| Ctnnd1 |
A |
G |
2: 84,454,652 (GRCm39) |
S53P |
probably benign |
Het |
| Dcpp3 |
AGGCCATGCTGGCC |
AGGCC |
17: 24,136,572 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,879,647 (GRCm39) |
V969D |
probably damaging |
Het |
| Ehd2 |
C |
A |
7: 15,691,492 (GRCm39) |
R280L |
probably benign |
Het |
| Entpd5 |
T |
C |
12: 84,432,974 (GRCm39) |
T218A |
probably damaging |
Het |
| Fcrl2 |
A |
C |
3: 87,164,635 (GRCm39) |
I297S |
probably benign |
Het |
| Frmpd2 |
T |
A |
14: 33,293,872 (GRCm39) |
L1346Q |
probably benign |
Het |
| Fry |
T |
C |
5: 150,249,614 (GRCm39) |
S142P |
probably damaging |
Het |
| Gbgt1 |
A |
T |
2: 28,394,898 (GRCm39) |
I179F |
probably damaging |
Het |
| Gm17067 |
A |
T |
7: 42,358,153 (GRCm39) |
S116R |
probably damaging |
Het |
| Gm5565 |
G |
T |
5: 146,094,964 (GRCm39) |
P261T |
probably damaging |
Het |
| Kat6a |
T |
C |
8: 23,401,803 (GRCm39) |
F391L |
probably benign |
Het |
| Kcnmb4 |
A |
T |
10: 116,309,089 (GRCm39) |
|
probably null |
Het |
| Krt6a |
T |
A |
15: 101,600,094 (GRCm39) |
H386L |
probably benign |
Het |
| L3mbtl1 |
C |
T |
2: 162,812,124 (GRCm39) |
T723I |
probably benign |
Het |
| Lamb2 |
A |
T |
9: 108,364,207 (GRCm39) |
R1049W |
possibly damaging |
Het |
| Lrmda |
T |
C |
14: 22,648,254 (GRCm39) |
|
probably benign |
Het |
| Lysmd2 |
C |
T |
9: 75,542,691 (GRCm39) |
T95I |
unknown |
Het |
| Ndst3 |
A |
G |
3: 123,346,181 (GRCm39) |
S698P |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,102,728 (GRCm39) |
D300G |
probably damaging |
Het |
| Nutf2 |
G |
T |
8: 106,602,258 (GRCm39) |
D23Y |
probably benign |
Het |
| Or6c211 |
G |
A |
10: 129,506,008 (GRCm39) |
P127S |
probably damaging |
Het |
| Pgghg |
A |
G |
7: 140,526,506 (GRCm39) |
I633V |
probably benign |
Het |
| Pik3r3 |
C |
T |
4: 116,157,006 (GRCm39) |
Q496* |
probably null |
Het |
| Pkn3 |
G |
T |
2: 29,970,699 (GRCm39) |
|
probably null |
Het |
| Plin2 |
A |
T |
4: 86,576,832 (GRCm39) |
S298T |
probably benign |
Het |
| Prdm8 |
T |
C |
5: 98,331,202 (GRCm39) |
V18A |
possibly damaging |
Het |
| Rel |
C |
A |
11: 23,707,026 (GRCm39) |
G59* |
probably null |
Het |
| Siglecg |
A |
G |
7: 43,058,481 (GRCm39) |
R123G |
possibly damaging |
Het |
| Slc13a1 |
T |
A |
6: 24,150,792 (GRCm39) |
I49F |
probably benign |
Het |
| Slc39a10 |
T |
A |
1: 46,874,724 (GRCm39) |
T193S |
probably benign |
Het |
| Slc9a3 |
T |
A |
13: 74,303,280 (GRCm39) |
V191E |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,721,443 (GRCm39) |
T1246S |
possibly damaging |
Het |
| Sult2b1 |
A |
C |
7: 45,391,670 (GRCm39) |
S39A |
probably benign |
Het |
| Tead1 |
A |
G |
7: 112,460,650 (GRCm39) |
T185A |
probably benign |
Het |
| Tmem67 |
A |
G |
4: 12,053,445 (GRCm39) |
|
probably null |
Het |
| Trim12c |
A |
T |
7: 103,994,341 (GRCm39) |
|
probably null |
Het |
| Trpm6 |
T |
A |
19: 18,815,406 (GRCm39) |
F1164Y |
probably damaging |
Het |
| Ube2d1 |
C |
T |
10: 71,098,071 (GRCm39) |
D16N |
probably benign |
Het |
| Vmn2r24 |
A |
T |
6: 123,757,386 (GRCm39) |
I85F |
probably benign |
Het |
| Vwde |
T |
A |
6: 13,193,122 (GRCm39) |
N406Y |
possibly damaging |
Het |
| Wdr54 |
A |
T |
6: 83,132,050 (GRCm39) |
|
probably null |
Het |
| Zcchc14 |
A |
T |
8: 122,330,842 (GRCm39) |
N840K |
probably damaging |
Het |
| Zfp451 |
C |
A |
1: 33,801,260 (GRCm39) |
S1052I |
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 |
|
|
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'- ACAGGCATATGCTATGAATTACTGG -3'
(R):5'- GGACAGCCATGCTTCATGAG -3'
Sequencing Primer
(F):5'- TTACTGGAGAAAGCTTGGGACACC -3'
(R):5'- GACAGCCATGCTTCATGAGATTAGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation