Incidental Mutation 'R5170:Zp1'
| ID |
397530 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zp1
|
| Ensembl Gene |
ENSMUSG00000024734 |
| Gene Name |
zona pellucida glycoprotein 1 |
| Synonyms |
|
| MMRRC Submission |
042750-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R5170 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
10891660-10897965 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 10897918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 8
(V8F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025641]
[ENSMUST00000168708]
|
| AlphaFold |
Q62005 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025641
AA Change: V8F
PolyPhen 2
Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000025641
Gene: ENSMUSG00000024734
AA Change: V8F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
199 |
N/A |
INTRINSIC |
|
PD
|
226 |
269 |
2.33e-11 |
SMART |
|
ZP
|
271 |
542 |
1.55e-102 |
SMART |
|
low complexity region
|
580 |
589 |
N/A |
INTRINSIC |
|
transmembrane domain
|
591 |
613 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168708
|
| SMART Domains |
Protein: ENSMUSP00000128543
Gene: ENSMUSG00000024734
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Zona_pellucida
|
3 |
61 |
5.6e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene ensures the structural integrity of the zona pellucida. Mutations in this gene are a cause of oocyte maturation defect and infertility. [provided by RefSeq, May 2014]
PHENOTYPE: Female homozygous mutants produce oocytes with abnormal zona pellucida. Fecunditiy is significantly reduced, probably due to precocious hatching. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
A |
G |
5: 35,745,969 (GRCm39) |
I51V |
probably benign |
Het |
| Agbl2 |
A |
G |
2: 90,633,541 (GRCm39) |
K559R |
probably benign |
Het |
| Arhgap30 |
A |
G |
1: 171,235,618 (GRCm39) |
D664G |
probably benign |
Het |
| BC034090 |
A |
G |
1: 155,089,396 (GRCm39) |
V798A |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,167,302 (GRCm39) |
C2237* |
probably null |
Het |
| C3 |
C |
T |
17: 57,530,938 (GRCm39) |
V388M |
probably damaging |
Het |
| Ccdc170 |
G |
A |
10: 4,464,200 (GRCm39) |
E60K |
probably damaging |
Het |
| Cdh8 |
G |
A |
8: 100,006,182 (GRCm39) |
T135M |
probably damaging |
Het |
| Cep131 |
G |
T |
11: 119,961,435 (GRCm39) |
A572E |
probably damaging |
Het |
| Clec16a |
A |
G |
16: 10,559,655 (GRCm39) |
Y976C |
probably benign |
Het |
| Cplx3 |
G |
A |
9: 57,522,902 (GRCm39) |
R153* |
probably null |
Het |
| Defa41 |
A |
T |
8: 21,691,696 (GRCm39) |
D26V |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Eno3 |
A |
G |
11: 70,553,040 (GRCm39) |
I393V |
probably benign |
Het |
| Fbxo47 |
A |
G |
11: 97,748,520 (GRCm39) |
V305A |
probably benign |
Het |
| Fry |
G |
A |
5: 150,353,319 (GRCm39) |
V1779M |
probably benign |
Het |
| Gtse1 |
T |
C |
15: 85,748,465 (GRCm39) |
|
probably null |
Het |
| Gucy2e |
A |
T |
11: 69,126,396 (GRCm39) |
L328Q |
probably damaging |
Het |
| Ifi207 |
T |
C |
1: 173,558,064 (GRCm39) |
T225A |
unknown |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Lamc3 |
A |
T |
2: 31,777,356 (GRCm39) |
M1L |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,619,745 (GRCm39) |
D1432G |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,963,380 (GRCm39) |
N988I |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,677,649 (GRCm39) |
E773G |
probably benign |
Het |
| Psen1 |
T |
A |
12: 83,761,636 (GRCm39) |
M146K |
probably damaging |
Het |
| Ptx4 |
G |
A |
17: 25,342,152 (GRCm39) |
R209Q |
probably benign |
Het |
| Slc13a2 |
T |
C |
11: 78,291,634 (GRCm39) |
T340A |
probably damaging |
Het |
| St8sia1 |
T |
C |
6: 142,909,434 (GRCm39) |
K21E |
probably damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,684,686 (GRCm39) |
D581G |
probably benign |
Het |
| Sumo2 |
G |
A |
11: 115,425,486 (GRCm39) |
|
probably benign |
Het |
| Supt5 |
G |
A |
7: 28,015,508 (GRCm39) |
P910S |
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,142,743 (GRCm39) |
Q158R |
possibly damaging |
Het |
| Tenm2 |
T |
A |
11: 35,915,633 (GRCm39) |
H1968L |
probably damaging |
Het |
| Trmt1 |
T |
C |
8: 85,421,861 (GRCm39) |
Y220H |
probably damaging |
Het |
| Trp73 |
C |
T |
4: 154,189,295 (GRCm39) |
E60K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,617,413 (GRCm39) |
Y8026H |
probably damaging |
Het |
| Zar1l |
A |
G |
5: 150,441,050 (GRCm39) |
|
probably null |
Het |
| Zfp740 |
T |
C |
15: 102,117,640 (GRCm39) |
Y117H |
probably damaging |
Het |
| Zfp941 |
G |
A |
7: 140,392,870 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Zp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00481:Zp1
|
APN |
19 |
10,896,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01504:Zp1
|
APN |
19 |
10,896,375 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02260:Zp1
|
APN |
19 |
10,894,078 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02465:Zp1
|
APN |
19 |
10,897,851 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02634:Zp1
|
APN |
19 |
10,896,871 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02714:Zp1
|
APN |
19 |
10,895,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03234:Zp1
|
APN |
19 |
10,892,187 (GRCm39) |
splice site |
probably benign |
|
|
IGL03404:Zp1
|
APN |
19 |
10,891,825 (GRCm39) |
unclassified |
probably benign |
|
|
R0504:Zp1
|
UTSW |
19 |
10,893,571 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0554:Zp1
|
UTSW |
19 |
10,897,926 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1028:Zp1
|
UTSW |
19 |
10,896,275 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1279:Zp1
|
UTSW |
19 |
10,895,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1460:Zp1
|
UTSW |
19 |
10,896,242 (GRCm39) |
missense |
probably benign |
|
|
R3425:Zp1
|
UTSW |
19 |
10,895,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3832:Zp1
|
UTSW |
19 |
10,893,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4420:Zp1
|
UTSW |
19 |
10,892,124 (GRCm39) |
splice site |
probably null |
|
|
R4669:Zp1
|
UTSW |
19 |
10,896,269 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4849:Zp1
|
UTSW |
19 |
10,896,198 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5134:Zp1
|
UTSW |
19 |
10,897,926 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5510:Zp1
|
UTSW |
19 |
10,896,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6284:Zp1
|
UTSW |
19 |
10,893,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6307:Zp1
|
UTSW |
19 |
10,894,084 (GRCm39) |
missense |
probably null |
0.45 |
|
R6378:Zp1
|
UTSW |
19 |
10,892,217 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6608:Zp1
|
UTSW |
19 |
10,896,344 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6697:Zp1
|
UTSW |
19 |
10,892,199 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6862:Zp1
|
UTSW |
19 |
10,893,877 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7054:Zp1
|
UTSW |
19 |
10,896,104 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7253:Zp1
|
UTSW |
19 |
10,893,933 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7483:Zp1
|
UTSW |
19 |
10,895,280 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7591:Zp1
|
UTSW |
19 |
10,896,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8857:Zp1
|
UTSW |
19 |
10,893,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Zp1
|
UTSW |
19 |
10,895,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Zp1
|
UTSW |
19 |
10,895,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTGGGAAGGGTGTCTGCC -3'
(R):5'- TAGACCCAGGATGGAACGTG -3'
Sequencing Primer
(F):5'- AAGGGTGTCTGCCAGCACTC -3'
(R):5'- AGGATGGAACGTGCCTTCTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation