Incidental Mutation 'IGL00960:Zar1'
| ID |
27488 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zar1
|
| Ensembl Gene |
ENSMUSG00000063935 |
| Gene Name |
zygote arrest 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00960
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
72734456-72738707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72734628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 197
(T197I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031124]
[ENSMUST00000073528]
[ENSMUST00000202174]
|
| AlphaFold |
Q80SU3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031124
|
| SMART Domains |
Protein: ENSMUSP00000031124
Gene: ENSMUSG00000060204
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
transmembrane domain
|
54 |
76 |
N/A |
INTRINSIC |
|
transmembrane domain
|
91 |
113 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073528
AA Change: T354I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073221
Gene: ENSMUSG00000063935
AA Change: T354I
| Domain | Start | End | E-Value | Type |
|---|
|
zf-3CxxC
|
262 |
347 |
5.2e-24 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197039
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200883
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202174
AA Change: T197I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This maternal effect gene is oocyte-specific and encodes a protein that is thought to function in the initiation of embryogenesis. A similar protein in mouse is required for female fertility. [provided by RefSeq, Jul 2013]
PHENOTYPE: Ovarian development and oogenesis are normal in homozygous null females, however they are infertile due to a failure at the oocyte to embryo transition. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
C |
A |
17: 46,634,671 (GRCm39) |
R444L |
probably damaging |
Het |
| Baiap2 |
T |
A |
11: 119,890,118 (GRCm39) |
S460T |
possibly damaging |
Het |
| Cckar |
A |
G |
5: 53,858,634 (GRCm39) |
Y158H |
probably damaging |
Het |
| Cdk4 |
A |
G |
10: 126,900,166 (GRCm39) |
Y21C |
probably damaging |
Het |
| Entpd1 |
C |
T |
19: 40,699,714 (GRCm39) |
P42S |
probably benign |
Het |
| Epha8 |
A |
T |
4: 136,679,150 (GRCm39) |
|
probably null |
Het |
| Fastkd1 |
A |
T |
2: 69,524,997 (GRCm39) |
|
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 53,013,494 (GRCm39) |
D951G |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kcnj5 |
T |
A |
9: 32,233,719 (GRCm39) |
T199S |
probably damaging |
Het |
| Med13 |
T |
C |
11: 86,181,866 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
G |
T |
14: 103,466,820 (GRCm39) |
H1314Q |
possibly damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,150,811 (GRCm39) |
S795T |
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,335,947 (GRCm39) |
S1042P |
probably damaging |
Het |
| Nlgn1 |
C |
A |
3: 25,966,861 (GRCm39) |
L197F |
probably damaging |
Het |
| Nsun7 |
A |
G |
5: 66,446,846 (GRCm39) |
Y428C |
probably benign |
Het |
| Or10d5j |
A |
G |
9: 39,867,455 (GRCm39) |
Y259H |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,661,589 (GRCm39) |
D1453G |
probably benign |
Het |
| Pcdhb8 |
A |
T |
18: 37,489,026 (GRCm39) |
I235F |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,725,234 (GRCm39) |
V1364A |
unknown |
Het |
| Polq |
T |
C |
16: 36,880,874 (GRCm39) |
S734P |
probably damaging |
Het |
| Sco1 |
T |
C |
11: 66,954,864 (GRCm39) |
*290Q |
probably null |
Het |
| Slc22a3 |
A |
T |
17: 12,644,497 (GRCm39) |
I496N |
probably damaging |
Het |
| Slc5a8 |
T |
G |
10: 88,757,627 (GRCm39) |
I539S |
probably benign |
Het |
| Tecta |
A |
G |
9: 42,270,376 (GRCm39) |
F1311L |
possibly damaging |
Het |
| Tex261 |
A |
T |
6: 83,752,650 (GRCm39) |
I19N |
possibly damaging |
Het |
| Tfr2 |
T |
C |
5: 137,569,954 (GRCm39) |
V120A |
probably benign |
Het |
| Vmn2r71 |
A |
T |
7: 85,273,582 (GRCm39) |
S799C |
probably damaging |
Het |
| Zfa-ps |
A |
G |
10: 52,420,043 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Zar1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0606:Zar1
|
UTSW |
5 |
72,737,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0674:Zar1
|
UTSW |
5 |
72,737,643 (GRCm39) |
splice site |
probably null |
|
|
R1752:Zar1
|
UTSW |
5 |
72,734,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4243:Zar1
|
UTSW |
5 |
72,737,736 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4244:Zar1
|
UTSW |
5 |
72,737,736 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4245:Zar1
|
UTSW |
5 |
72,737,736 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4630:Zar1
|
UTSW |
5 |
72,738,249 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5186:Zar1
|
UTSW |
5 |
72,734,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6060:Zar1
|
UTSW |
5 |
72,738,272 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7137:Zar1
|
UTSW |
5 |
72,738,159 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7232:Zar1
|
UTSW |
5 |
72,738,294 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7331:Zar1
|
UTSW |
5 |
72,737,655 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7694:Zar1
|
UTSW |
5 |
72,738,193 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0024:Zar1
|
UTSW |
5 |
72,738,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Zar1
|
UTSW |
5 |
72,738,027 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Posted On |
2013-04-17 |
Incidental Mutation