Incidental Mutation 'R1776:Ovgp1'
ID |
197002 |
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 |
039807-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1776 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
105881118-105894739 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 105885114 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 151
(H151L)
|
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: H151L
PolyPhen 2
Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000000573 Gene: ENSMUSG00000074340 AA Change: H151L
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: H138L
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000132424 Gene: ENSMUSG00000074340 AA Change: H138L
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 |
0.1645 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 91.3%
|
Validation Efficiency |
98% (86/88) |
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930533K18Rik |
T |
C |
10: 70,711,058 (GRCm39) |
|
noncoding transcript |
Het |
9430097D07Rik |
T |
C |
2: 32,464,767 (GRCm39) |
|
probably benign |
Het |
A2m |
C |
G |
6: 121,618,383 (GRCm39) |
F225L |
probably damaging |
Het |
Adamts19 |
T |
A |
18: 59,087,692 (GRCm39) |
I574N |
probably damaging |
Het |
Ankfn1 |
T |
C |
11: 89,417,300 (GRCm39) |
D104G |
possibly damaging |
Het |
Ankhd1 |
T |
A |
18: 36,780,361 (GRCm39) |
N1804K |
probably benign |
Het |
Ankle1 |
G |
T |
8: 71,861,918 (GRCm39) |
V474F |
probably damaging |
Het |
Arfgap3 |
A |
G |
15: 83,227,340 (GRCm39) |
V24A |
probably benign |
Het |
Asph |
A |
T |
4: 9,598,773 (GRCm39) |
S149R |
probably damaging |
Het |
Cass4 |
A |
T |
2: 172,269,615 (GRCm39) |
I568L |
probably benign |
Het |
Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
Cdx1 |
G |
A |
18: 61,169,086 (GRCm39) |
A36V |
probably benign |
Het |
Cep57 |
A |
T |
9: 13,730,170 (GRCm39) |
S123T |
probably damaging |
Het |
Clca3a2 |
T |
A |
3: 144,519,681 (GRCm39) |
Q231L |
probably damaging |
Het |
Clcnkb |
T |
C |
4: 141,142,500 (GRCm39) |
|
probably benign |
Het |
Crabp2 |
C |
A |
3: 87,860,301 (GRCm39) |
T125K |
probably benign |
Het |
Dennd3 |
A |
G |
15: 73,426,950 (GRCm39) |
T776A |
possibly damaging |
Het |
Dnajb6 |
T |
C |
5: 29,990,091 (GRCm39) |
|
probably benign |
Het |
Dsp |
T |
A |
13: 38,380,593 (GRCm39) |
I1847N |
probably damaging |
Het |
Dync1h1 |
T |
C |
12: 110,599,362 (GRCm39) |
|
probably benign |
Het |
Ecpas |
A |
G |
4: 58,879,100 (GRCm39) |
I63T |
probably damaging |
Het |
Fbn1 |
A |
C |
2: 125,163,654 (GRCm39) |
F2067L |
possibly damaging |
Het |
Fbxo16 |
T |
A |
14: 65,532,835 (GRCm39) |
|
probably null |
Het |
Gm3604 |
C |
A |
13: 62,517,888 (GRCm39) |
G157* |
probably null |
Het |
Gm5250 |
A |
G |
1: 13,132,564 (GRCm39) |
|
noncoding transcript |
Het |
Gpam |
A |
G |
19: 55,067,007 (GRCm39) |
S503P |
possibly damaging |
Het |
Herc4 |
T |
A |
10: 63,099,950 (GRCm39) |
C124* |
probably null |
Het |
Ift27 |
T |
C |
15: 78,050,181 (GRCm39) |
D76G |
probably null |
Het |
Igdcc3 |
C |
T |
9: 65,090,034 (GRCm39) |
Q550* |
probably null |
Het |
Igsf6 |
T |
A |
7: 120,667,522 (GRCm39) |
I165F |
probably damaging |
Het |
Il31ra |
T |
C |
13: 112,677,773 (GRCm39) |
I173M |
probably damaging |
Het |
Kbtbd6 |
G |
A |
14: 79,690,045 (GRCm39) |
D247N |
probably benign |
Het |
Kcnq2 |
T |
A |
2: 180,742,350 (GRCm39) |
T394S |
probably benign |
Het |
Mia2 |
A |
G |
12: 59,196,361 (GRCm39) |
|
probably benign |
Het |
Mvp |
T |
C |
7: 126,591,933 (GRCm39) |
Q419R |
probably benign |
Het |
Mylk |
A |
G |
16: 34,773,152 (GRCm39) |
D1250G |
probably benign |
Het |
Necab1 |
A |
G |
4: 15,111,267 (GRCm39) |
Y54H |
probably damaging |
Het |
Nlk |
T |
A |
11: 78,477,853 (GRCm39) |
M297L |
probably benign |
Het |
Nsl1 |
G |
T |
1: 190,795,385 (GRCm39) |
M50I |
probably benign |
Het |
Numa1 |
A |
G |
7: 101,660,257 (GRCm39) |
T441A |
probably damaging |
Het |
Ofd1 |
A |
G |
X: 165,189,002 (GRCm39) |
Y755H |
probably benign |
Het |
Or10d1c |
G |
A |
9: 38,894,190 (GRCm39) |
S50F |
probably damaging |
Het |
Or6c69b |
C |
T |
10: 129,627,000 (GRCm39) |
V153I |
probably benign |
Het |
Or8b12i |
G |
A |
9: 20,082,105 (GRCm39) |
T254I |
probably benign |
Het |
Pigz |
G |
A |
16: 31,763,397 (GRCm39) |
E152K |
probably damaging |
Het |
Plxna1 |
A |
T |
6: 89,312,446 (GRCm39) |
D779E |
probably benign |
Het |
Ppil4 |
A |
T |
10: 7,686,201 (GRCm39) |
E353V |
probably benign |
Het |
Ptprq |
C |
T |
10: 107,520,950 (GRCm39) |
G741S |
probably damaging |
Het |
Rplp0 |
T |
C |
5: 115,700,524 (GRCm39) |
Y231H |
probably benign |
Het |
Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
Rundc3b |
T |
C |
5: 8,629,050 (GRCm39) |
E117G |
probably damaging |
Het |
Ryr2 |
A |
C |
13: 11,760,062 (GRCm39) |
|
probably null |
Het |
Ryr3 |
A |
T |
2: 112,787,598 (GRCm39) |
M198K |
probably damaging |
Het |
Sdhd |
T |
C |
9: 50,508,500 (GRCm39) |
K122R |
probably benign |
Het |
Senp2 |
T |
C |
16: 21,861,810 (GRCm39) |
|
probably benign |
Het |
Setd3 |
C |
A |
12: 108,131,420 (GRCm39) |
G2V |
probably damaging |
Het |
Sfxn5 |
A |
G |
6: 85,244,927 (GRCm39) |
|
probably benign |
Het |
She |
T |
A |
3: 89,739,345 (GRCm39) |
S179T |
possibly damaging |
Het |
Slc24a2 |
G |
A |
4: 87,094,526 (GRCm39) |
T331I |
probably benign |
Het |
Slc45a3 |
T |
C |
1: 131,904,694 (GRCm39) |
W6R |
possibly damaging |
Het |
Slc9a4 |
T |
C |
1: 40,668,447 (GRCm39) |
S697P |
probably benign |
Het |
Soat1 |
C |
T |
1: 156,269,991 (GRCm39) |
V143I |
probably benign |
Het |
Sp8 |
T |
A |
12: 118,813,302 (GRCm39) |
F386I |
probably damaging |
Het |
Spata31d1b |
A |
G |
13: 59,864,381 (GRCm39) |
T510A |
probably benign |
Het |
Srgap2 |
T |
A |
1: 131,339,588 (GRCm39) |
I125F |
probably damaging |
Het |
Stab2 |
T |
A |
10: 86,793,680 (GRCm39) |
I472F |
possibly damaging |
Het |
Taar7f |
C |
T |
10: 23,925,546 (GRCm39) |
R47C |
probably benign |
Het |
Tbc1d19 |
T |
A |
5: 54,046,653 (GRCm39) |
|
probably null |
Het |
Tbc1d21 |
T |
A |
9: 58,274,011 (GRCm39) |
|
probably benign |
Het |
Tcaf1 |
A |
G |
6: 42,655,389 (GRCm39) |
I529T |
possibly damaging |
Het |
Tgfbr2 |
A |
T |
9: 116,004,035 (GRCm39) |
I24N |
possibly damaging |
Het |
Tgm1 |
T |
C |
14: 55,946,854 (GRCm39) |
T385A |
probably damaging |
Het |
Tgm2 |
T |
C |
2: 157,973,379 (GRCm39) |
N244S |
probably benign |
Het |
Thoc5 |
T |
C |
11: 4,864,517 (GRCm39) |
|
probably benign |
Het |
Tmc2 |
A |
T |
2: 130,076,789 (GRCm39) |
I372F |
probably damaging |
Het |
Tnrc6a |
A |
G |
7: 122,770,520 (GRCm39) |
D222G |
probably damaging |
Het |
Trhde |
T |
G |
10: 114,636,508 (GRCm39) |
N233T |
probably benign |
Het |
Tstd3 |
T |
C |
4: 21,759,475 (GRCm39) |
Y99C |
probably damaging |
Het |
Ttc22 |
A |
T |
4: 106,496,237 (GRCm39) |
D429V |
possibly damaging |
Het |
Ugcg |
A |
G |
4: 59,207,775 (GRCm39) |
N38S |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,460,400 (GRCm39) |
I2554V |
possibly damaging |
Het |
Usp16 |
A |
G |
16: 87,276,204 (GRCm39) |
D513G |
probably damaging |
Het |
Vip |
T |
C |
10: 5,594,992 (GRCm39) |
|
probably null |
Het |
Vmn1r4 |
A |
G |
6: 56,934,023 (GRCm39) |
I176V |
probably benign |
Het |
Zfp804b |
T |
C |
5: 6,819,806 (GRCm39) |
T1050A |
probably 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 |
|
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'- CGAGCCTGTGGTTTTGAAGACACTG -3'
(R):5'- GGCTCTGCCCAAGTCTATGAGAAAG -3'
Sequencing Primer
(F):5'- GAAGACACTGCTTTTTGCCTTATG -3'
(R):5'- TTCAGAGACCAAGTGTCCCTTAG -3'
|
Posted On |
2014-05-23 |