Incidental Mutation 'IGL00950:Izumo1'
| ID |
27862 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Izumo1
|
| Ensembl Gene |
ENSMUSG00000064158 |
| Gene Name |
izumo sperm-egg fusion 1 |
| Synonyms |
1700058F15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00950
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45270251-45276653 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 45272295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 25
(C25*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008605]
[ENSMUST00000033100]
[ENSMUST00000057927]
[ENSMUST00000209379]
[ENSMUST00000210150]
|
| AlphaFold |
Q9D9J7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008605
|
| SMART Domains |
Protein: ENSMUSP00000008605
Gene: ENSMUSG00000008461
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_11
|
39 |
355 |
3.1e-126 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000033100
AA Change: C25*
|
| SMART Domains |
Protein: ENSMUSP00000033100
Gene: ENSMUSG00000064158
AA Change: C25*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
13 |
N/A |
INTRINSIC |
|
Pfam:IZUMO
|
21 |
166 |
2.6e-53 |
PFAM |
|
IG
|
167 |
253 |
2.43e-2 |
SMART |
|
transmembrane domain
|
320 |
342 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057927
|
| SMART Domains |
Protein: ENSMUSP00000062429
Gene: ENSMUSG00000044562
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
97 |
112 |
N/A |
INTRINSIC |
|
RA
|
141 |
253 |
6.94e-8 |
SMART |
|
low complexity region
|
284 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
339 |
N/A |
INTRINSIC |
|
SCOP:d1gxca_
|
391 |
484 |
1e-2 |
SMART |
|
low complexity region
|
498 |
509 |
N/A |
INTRINSIC |
|
low complexity region
|
556 |
575 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
692 |
N/A |
INTRINSIC |
|
DIL
|
768 |
877 |
4.14e-44 |
SMART |
|
low complexity region
|
928 |
947 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209590
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210150
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The sperm-specific protein Izumo, named for a Japanese shrine dedicated to marriage, is essential for sperm-egg plasma membrane binding and fusion (Inoue et al., 2005 [PubMed 15759005]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous null male mice are infertile due to inability of sperm to fuse with the egg. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
T |
C |
7: 66,770,660 (GRCm39) |
V923A |
possibly damaging |
Het |
| Als2 |
G |
A |
1: 59,254,541 (GRCm39) |
A272V |
probably benign |
Het |
| Aoc1l1 |
A |
C |
6: 48,955,065 (GRCm39) |
N635T |
possibly damaging |
Het |
| Chrne |
C |
T |
11: 70,509,983 (GRCm39) |
|
probably benign |
Het |
| Dhx34 |
C |
T |
7: 15,933,751 (GRCm39) |
R947H |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,253,482 (GRCm39) |
M1796L |
probably benign |
Het |
| Dstyk |
C |
T |
1: 132,387,726 (GRCm39) |
T820I |
probably damaging |
Het |
| Eif4g1 |
A |
G |
16: 20,502,378 (GRCm39) |
K942E |
probably damaging |
Het |
| Fbn1 |
C |
T |
2: 125,200,743 (GRCm39) |
G1318E |
probably damaging |
Het |
| Galnt5 |
T |
C |
2: 57,889,144 (GRCm39) |
V248A |
probably benign |
Het |
| Gcnt4 |
A |
G |
13: 97,083,064 (GRCm39) |
Y120C |
probably damaging |
Het |
| Gdf5 |
A |
G |
2: 155,783,626 (GRCm39) |
V442A |
probably damaging |
Het |
| H2-Q4 |
A |
C |
17: 35,601,834 (GRCm39) |
D232A |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,048,785 (GRCm39) |
I2423V |
probably benign |
Het |
| Itk |
T |
A |
11: 46,258,723 (GRCm39) |
I60F |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,442,393 (GRCm39) |
D767E |
probably benign |
Het |
| Lamc1 |
G |
T |
1: 153,116,241 (GRCm39) |
P980H |
probably damaging |
Het |
| Ncor2 |
C |
A |
5: 125,163,954 (GRCm39) |
R367L |
unknown |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,059 (GRCm39) |
|
probably null |
Het |
| Rnf123 |
C |
A |
9: 107,944,594 (GRCm39) |
|
probably null |
Het |
| Sh3bgrl2 |
T |
A |
9: 83,459,543 (GRCm39) |
F34I |
probably damaging |
Het |
| Sharpin |
T |
C |
15: 76,232,424 (GRCm39) |
E171G |
probably damaging |
Het |
| Slc22a30 |
A |
T |
19: 8,313,152 (GRCm39) |
D544E |
probably benign |
Het |
| Slc36a1 |
T |
C |
11: 55,116,954 (GRCm39) |
C328R |
probably damaging |
Het |
| Sntg2 |
T |
C |
12: 30,362,680 (GRCm39) |
|
probably benign |
Het |
| Sox13 |
A |
G |
1: 133,314,844 (GRCm39) |
V272A |
probably benign |
Het |
| Sppl2b |
T |
G |
10: 80,699,928 (GRCm39) |
L37R |
probably damaging |
Het |
| Strip1 |
T |
A |
3: 107,528,761 (GRCm39) |
S390C |
probably damaging |
Het |
| Stxbp5 |
T |
A |
10: 9,684,346 (GRCm39) |
|
probably benign |
Het |
| Supt16 |
T |
C |
14: 52,399,255 (GRCm39) |
E1008G |
possibly damaging |
Het |
| Vmn1r174 |
C |
A |
7: 23,453,911 (GRCm39) |
H192Q |
possibly damaging |
Het |
| Vsir |
C |
T |
10: 60,200,063 (GRCm39) |
Q154* |
probably null |
Het |
| Xrn2 |
A |
T |
2: 146,870,066 (GRCm39) |
R252* |
probably null |
Het |
|
| Other mutations in Izumo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01380:Izumo1
|
APN |
7 |
45,276,519 (GRCm39) |
missense |
probably benign |
|
|
IGL02824:Izumo1
|
APN |
7 |
45,275,072 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03189:Izumo1
|
APN |
7 |
45,274,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03389:Izumo1
|
APN |
7 |
45,273,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0062:Izumo1
|
UTSW |
7 |
45,276,621 (GRCm39) |
missense |
probably benign |
|
|
R0062:Izumo1
|
UTSW |
7 |
45,276,621 (GRCm39) |
missense |
probably benign |
|
|
R0233:Izumo1
|
UTSW |
7 |
45,273,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Izumo1
|
UTSW |
7 |
45,273,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0609:Izumo1
|
UTSW |
7 |
45,272,323 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0750:Izumo1
|
UTSW |
7 |
45,275,707 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0839:Izumo1
|
UTSW |
7 |
45,276,536 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0959:Izumo1
|
UTSW |
7 |
45,274,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1024:Izumo1
|
UTSW |
7 |
45,276,598 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1469:Izumo1
|
UTSW |
7 |
45,272,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Izumo1
|
UTSW |
7 |
45,272,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Izumo1
|
UTSW |
7 |
45,272,234 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4771:Izumo1
|
UTSW |
7 |
45,272,233 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4825:Izumo1
|
UTSW |
7 |
45,274,411 (GRCm39) |
nonsense |
probably null |
|
|
R4839:Izumo1
|
UTSW |
7 |
45,275,657 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7140:Izumo1
|
UTSW |
7 |
45,275,536 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7143:Izumo1
|
UTSW |
7 |
45,276,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8027:Izumo1
|
UTSW |
7 |
45,275,678 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8543:Izumo1
|
UTSW |
7 |
45,275,678 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8766:Izumo1
|
UTSW |
7 |
45,276,496 (GRCm39) |
missense |
probably benign |
|
|
R9114:Izumo1
|
UTSW |
7 |
45,276,583 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation