Incidental Mutation 'R4467:Ovgp1'
| ID |
329223 |
| 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 |
041724-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4467 (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 105885027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 122
(D122G)
|
| 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: D122G
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000000573
Gene: ENSMUSG00000074340
AA Change: D122G
| 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: D109G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000132424
Gene: ENSMUSG00000074340
AA Change: D109G
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
98% (52/53) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Atg4a-ps |
A |
G |
3: 103,553,171 (GRCm39) |
Y57H |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Bms1 |
G |
A |
6: 118,360,808 (GRCm39) |
T1220I |
probably damaging |
Het |
| Brat1 |
T |
C |
5: 140,690,826 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
T |
A |
2: 132,136,366 (GRCm39) |
Y39* |
probably null |
Het |
| Chrnd |
T |
A |
1: 87,125,099 (GRCm39) |
L384Q |
probably damaging |
Het |
| Cpa3 |
A |
T |
3: 20,282,981 (GRCm39) |
Y155* |
probably null |
Het |
| Crlf1 |
G |
A |
8: 70,953,606 (GRCm39) |
W260* |
probably null |
Het |
| Cux1 |
C |
G |
5: 136,341,576 (GRCm39) |
E605D |
probably damaging |
Het |
| Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
| Dmtf1 |
T |
C |
5: 9,186,085 (GRCm39) |
N167S |
probably damaging |
Het |
| Dnaaf9 |
A |
G |
2: 130,609,567 (GRCm39) |
I372T |
probably damaging |
Het |
| Dnai7 |
A |
T |
6: 145,128,944 (GRCm39) |
|
probably null |
Het |
| Dtx2 |
T |
A |
5: 136,040,930 (GRCm39) |
W112R |
probably damaging |
Het |
| Elf3 |
A |
G |
1: 135,184,582 (GRCm39) |
I138T |
probably damaging |
Het |
| F11 |
T |
A |
8: 45,694,511 (GRCm39) |
I617F |
probably damaging |
Het |
| Fdps |
A |
T |
3: 89,008,093 (GRCm39) |
D8E |
possibly damaging |
Het |
| Fzd10 |
C |
A |
5: 128,678,340 (GRCm39) |
T20K |
probably benign |
Het |
| Gm9978 |
T |
A |
10: 78,322,750 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
| Has1 |
C |
T |
17: 18,064,257 (GRCm39) |
V461M |
probably benign |
Het |
| Hdac3 |
C |
T |
18: 38,085,566 (GRCm39) |
G80D |
probably benign |
Het |
| Klk12 |
A |
T |
7: 43,422,807 (GRCm39) |
R245W |
probably damaging |
Het |
| Lamp5 |
A |
G |
2: 135,900,940 (GRCm39) |
I47V |
probably damaging |
Het |
| Or6c1b |
T |
C |
10: 129,272,933 (GRCm39) |
I84T |
probably benign |
Het |
| Piezo1 |
T |
C |
8: 123,213,135 (GRCm39) |
E1875G |
probably benign |
Het |
| Pih1d1 |
A |
G |
7: 44,807,921 (GRCm39) |
M132V |
possibly damaging |
Het |
| Pon2 |
C |
T |
6: 5,267,021 (GRCm39) |
A241T |
probably benign |
Het |
| Prkce |
A |
G |
17: 86,927,339 (GRCm39) |
I538V |
possibly damaging |
Het |
| Rab36 |
C |
T |
10: 74,887,875 (GRCm39) |
R249* |
probably null |
Het |
| Rps6kl1 |
C |
T |
12: 85,194,582 (GRCm39) |
A110T |
probably damaging |
Het |
| Rsad1 |
T |
C |
11: 94,435,356 (GRCm39) |
T244A |
probably benign |
Het |
| Slc22a7 |
T |
C |
17: 46,743,436 (GRCm39) |
I532V |
probably benign |
Het |
| Slc2a7 |
T |
C |
4: 150,247,731 (GRCm39) |
V377A |
possibly damaging |
Het |
| Slx4 |
A |
G |
16: 3,806,919 (GRCm39) |
V508A |
possibly damaging |
Het |
| Stag2 |
A |
G |
X: 41,322,749 (GRCm39) |
S400G |
probably benign |
Het |
| Stat6 |
T |
G |
10: 127,487,097 (GRCm39) |
I201M |
probably damaging |
Het |
| Stim2 |
T |
C |
5: 54,273,536 (GRCm39) |
|
probably null |
Het |
| Tbc1d9 |
A |
G |
8: 83,937,107 (GRCm39) |
Y63C |
probably damaging |
Het |
| Tctn2 |
T |
C |
5: 124,758,252 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Ubr5 |
T |
A |
15: 38,004,580 (GRCm39) |
T1282S |
probably damaging |
Het |
| Ufl1 |
A |
T |
4: 25,254,806 (GRCm39) |
I550N |
probably damaging |
Het |
| Uty |
A |
G |
Y: 1,158,372 (GRCm39) |
V557A |
possibly damaging |
Het |
| Vmn1r54 |
T |
C |
6: 90,246,253 (GRCm39) |
S56P |
probably damaging |
Het |
| Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
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 |
|
|
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 |
|
|
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'- CTGTTTTGCTATGGAAAGGAGAGC -3'
(R):5'- ATTCACCCACCCTGAAGGAG -3'
Sequencing Primer
(F):5'- ATGCGTGGGAGCTGCTC -3'
(R):5'- GAGAAGTAGGACCATTTGCTTATTAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation