Incidental Mutation 'R0743:Ovgp1'
ID |
70762 |
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 |
038924-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0743 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
105881118-105894739 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 105882248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 37
(L37H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132424
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000573]
[ENSMUST00000130994]
[ENSMUST00000163626]
|
AlphaFold |
Q62010 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000573
AA Change: L50H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000000573 Gene: ENSMUSG00000074340 AA Change: L50H
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: ENSMUST00000130994
|
SMART Domains |
Protein: ENSMUSP00000120517 Gene: ENSMUSG00000000561
Domain | Start | End | E-Value | Type |
PDB:4GQB|B
|
1 |
52 |
8e-18 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137168
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163626
AA Change: L37H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132424 Gene: ENSMUSG00000074340 AA Change: L37H
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: 99.2%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 92.7%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
A |
T |
14: 118,790,700 (GRCm39) |
I844N |
possibly damaging |
Het |
Bend7 |
A |
T |
2: 4,749,055 (GRCm39) |
K57N |
probably damaging |
Het |
Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
Het |
Cfap91 |
A |
G |
16: 38,155,996 (GRCm39) |
F76L |
probably damaging |
Het |
Csmd2 |
A |
T |
4: 128,007,469 (GRCm39) |
T149S |
probably benign |
Het |
Cyp2a12 |
T |
C |
7: 26,731,967 (GRCm39) |
I236T |
probably benign |
Het |
Dennd2b |
A |
G |
7: 109,156,552 (GRCm39) |
L66P |
probably damaging |
Het |
Dnase1l2 |
A |
G |
17: 24,660,854 (GRCm39) |
V170A |
possibly damaging |
Het |
Dnm2 |
T |
A |
9: 21,411,561 (GRCm39) |
Y597N |
probably damaging |
Het |
Epsti1 |
A |
T |
14: 78,168,715 (GRCm39) |
R117S |
probably damaging |
Het |
Gabarapl2 |
A |
T |
8: 112,669,137 (GRCm39) |
I32F |
probably damaging |
Het |
Glrb |
T |
A |
3: 80,786,987 (GRCm39) |
I59F |
probably damaging |
Het |
Gosr1 |
A |
G |
11: 76,620,972 (GRCm39) |
I239T |
probably benign |
Het |
Kif5b |
G |
T |
18: 6,209,192 (GRCm39) |
R857S |
probably damaging |
Het |
Kmt5a |
C |
A |
5: 124,585,282 (GRCm39) |
N44K |
probably damaging |
Het |
Ksr1 |
A |
T |
11: 78,912,329 (GRCm39) |
H675Q |
possibly damaging |
Het |
Mep1b |
A |
G |
18: 21,213,515 (GRCm39) |
D68G |
possibly damaging |
Het |
Nebl |
A |
C |
2: 17,415,929 (GRCm39) |
S327A |
probably benign |
Het |
Nfat5 |
G |
A |
8: 108,094,698 (GRCm39) |
E962K |
probably damaging |
Het |
Nfatc4 |
A |
C |
14: 56,064,101 (GRCm39) |
D126A |
probably damaging |
Het |
Nmt2 |
A |
T |
2: 3,315,822 (GRCm39) |
R271* |
probably null |
Het |
Nol7 |
G |
A |
13: 43,554,091 (GRCm39) |
V133I |
probably benign |
Het |
Npepps |
A |
G |
11: 97,096,884 (GRCm39) |
|
probably benign |
Het |
Nphp3 |
GCATCATCATCATCATC |
GCATCATCATCATC |
9: 103,899,967 (GRCm39) |
|
probably benign |
Het |
Or1e1c |
A |
T |
11: 73,265,715 (GRCm39) |
I47F |
probably benign |
Het |
Or51ag1 |
C |
T |
7: 103,156,069 (GRCm39) |
W28* |
probably null |
Het |
Or6c66 |
T |
A |
10: 129,461,712 (GRCm39) |
T73S |
probably benign |
Het |
Or8h10 |
G |
A |
2: 86,808,843 (GRCm39) |
T99I |
probably benign |
Het |
Padi3 |
G |
T |
4: 140,513,740 (GRCm39) |
A646D |
probably benign |
Het |
Pamr1 |
A |
G |
2: 102,440,252 (GRCm39) |
E142G |
probably damaging |
Het |
Papolg |
A |
T |
11: 23,820,818 (GRCm39) |
|
probably null |
Het |
Pate8 |
T |
C |
9: 36,492,597 (GRCm39) |
S103G |
probably benign |
Het |
Pfkl |
C |
T |
10: 77,831,077 (GRCm39) |
|
probably null |
Het |
Plrg1 |
T |
C |
3: 82,967,224 (GRCm39) |
S132P |
probably benign |
Het |
Pramel23 |
A |
T |
4: 143,425,134 (GRCm39) |
I103N |
probably damaging |
Het |
Prr14l |
C |
A |
5: 32,988,538 (GRCm39) |
C319F |
possibly damaging |
Het |
Prtn3 |
T |
A |
10: 79,715,511 (GRCm39) |
M1K |
probably null |
Het |
Ptpn22 |
T |
C |
3: 103,809,487 (GRCm39) |
F700S |
probably damaging |
Het |
Ptprz1 |
C |
T |
6: 23,044,366 (GRCm39) |
Q1273* |
probably null |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,569,415 (GRCm39) |
D4963G |
probably damaging |
Het |
Sec16a |
G |
A |
2: 26,309,734 (GRCm39) |
L2091F |
possibly damaging |
Het |
Senp6 |
C |
T |
9: 80,000,871 (GRCm39) |
R27C |
probably damaging |
Het |
Shcbp1 |
T |
A |
8: 4,814,906 (GRCm39) |
M191L |
probably benign |
Het |
Sirt4 |
T |
C |
5: 115,621,014 (GRCm39) |
K53E |
probably benign |
Het |
Slc10a2 |
A |
G |
8: 5,139,132 (GRCm39) |
S271P |
probably damaging |
Het |
Slc35b2 |
T |
A |
17: 45,877,751 (GRCm39) |
F293I |
probably damaging |
Het |
Slc38a10 |
C |
T |
11: 120,031,469 (GRCm39) |
V103M |
probably damaging |
Het |
Stab2 |
T |
A |
10: 86,723,759 (GRCm39) |
I1479F |
probably damaging |
Het |
Synpo2 |
A |
G |
3: 122,906,355 (GRCm39) |
V987A |
probably benign |
Het |
Syt9 |
A |
G |
7: 107,035,768 (GRCm39) |
I262V |
probably damaging |
Het |
Taf2 |
GCTTCTTCTTCTTCTTCTT |
GCTTCTTCTTCTTCTT |
15: 54,879,857 (GRCm39) |
|
probably benign |
Het |
Tmem39a |
A |
T |
16: 38,405,764 (GRCm39) |
I200F |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,579,613 (GRCm39) |
T23760M |
probably damaging |
Het |
Uqcrc1 |
C |
T |
9: 108,773,773 (GRCm39) |
Q22* |
probably null |
Het |
Wdtc1 |
A |
G |
4: 133,027,972 (GRCm39) |
W377R |
probably damaging |
Het |
Zfp454 |
A |
G |
11: 50,764,764 (GRCm39) |
S223P |
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 |
|
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 |
105,893,619 (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'- GTCAAGAATCTGAGTTCCCTTCTTGCC -3'
(R):5'- TGAGCCAAAGTTTCCCAGGAGAAAG -3'
Sequencing Primer
(F):5'- CCCATGATCTCTGCTGATTAATAC -3'
(R):5'- TATGTCAGAGGTACTCAGATCCC -3'
|
Posted On |
2013-09-30 |