Incidental Mutation 'IGL03389:Izumo1'
| ID |
420980 |
| 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 # |
IGL03389
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45270251-45276653 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45273613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 122
(F122S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008605]
[ENSMUST00000033100]
[ENSMUST00000057927]
[ENSMUST00000209379]
|
| 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 damaging
Transcript: ENSMUST00000033100
AA Change: F122S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033100
Gene: ENSMUSG00000064158
AA Change: F122S
| 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
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
A |
T |
1: 38,249,430 (GRCm39) |
V559E |
possibly damaging |
Het |
| Alpk2 |
G |
T |
18: 65,437,937 (GRCm39) |
P1619Q |
possibly damaging |
Het |
| Amz1 |
C |
A |
5: 140,737,782 (GRCm39) |
F347L |
probably benign |
Het |
| Ank1 |
T |
C |
8: 23,578,076 (GRCm39) |
|
probably null |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Cdc16 |
A |
G |
8: 13,809,179 (GRCm39) |
Y48C |
probably damaging |
Het |
| Cfap91 |
C |
T |
16: 38,144,498 (GRCm39) |
|
probably null |
Het |
| Cul2 |
A |
G |
18: 3,431,029 (GRCm39) |
D538G |
probably benign |
Het |
| Cyp2j13 |
T |
A |
4: 95,956,558 (GRCm39) |
I184F |
probably damaging |
Het |
| Cyp4a12b |
A |
T |
4: 115,291,005 (GRCm39) |
R344S |
possibly damaging |
Het |
| Dis3 |
A |
G |
14: 99,332,783 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,985,805 (GRCm39) |
H1424R |
probably damaging |
Het |
| Eef2 |
A |
G |
10: 81,015,540 (GRCm39) |
I354V |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,526,596 (GRCm39) |
D382G |
probably damaging |
Het |
| Epas1 |
T |
A |
17: 87,131,131 (GRCm39) |
S304T |
probably benign |
Het |
| Fry |
A |
T |
5: 150,317,696 (GRCm39) |
D892V |
probably damaging |
Het |
| Gprc5a |
G |
T |
6: 135,060,823 (GRCm39) |
D355Y |
possibly damaging |
Het |
| Hsd17b7 |
G |
A |
1: 169,787,320 (GRCm39) |
T228I |
probably damaging |
Het |
| Ift74 |
T |
C |
4: 94,510,149 (GRCm39) |
V60A |
possibly damaging |
Het |
| Insrr |
A |
T |
3: 87,716,038 (GRCm39) |
I578F |
probably damaging |
Het |
| Lss |
G |
A |
10: 76,372,173 (GRCm39) |
R176H |
probably damaging |
Het |
| Ltb |
T |
C |
17: 35,414,044 (GRCm39) |
S61P |
probably benign |
Het |
| Mybphl |
T |
C |
3: 108,283,034 (GRCm39) |
V274A |
probably benign |
Het |
| Myo9a |
T |
G |
9: 59,776,890 (GRCm39) |
L1096W |
probably damaging |
Het |
| Nlrc5 |
T |
A |
8: 95,248,102 (GRCm39) |
L1690H |
probably damaging |
Het |
| Nrap |
A |
T |
19: 56,340,148 (GRCm39) |
S790T |
probably benign |
Het |
| Nrcam |
A |
G |
12: 44,596,689 (GRCm39) |
D308G |
probably benign |
Het |
| Or10a3 |
G |
A |
7: 108,479,982 (GRCm39) |
T277M |
probably damaging |
Het |
| Or1j17 |
A |
G |
2: 36,578,274 (GRCm39) |
T87A |
probably benign |
Het |
| Pias2 |
A |
G |
18: 77,185,354 (GRCm39) |
D138G |
probably damaging |
Het |
| Prpf4b |
T |
C |
13: 35,084,439 (GRCm39) |
|
probably benign |
Het |
| Rapgef3 |
A |
G |
15: 97,647,397 (GRCm39) |
S788P |
probably damaging |
Het |
| Slc5a6 |
T |
C |
5: 31,194,821 (GRCm39) |
Y525C |
probably damaging |
Het |
| Snx32 |
T |
C |
19: 5,546,082 (GRCm39) |
|
probably benign |
Het |
| Tnfaip3 |
T |
C |
10: 18,880,735 (GRCm39) |
E444G |
probably benign |
Het |
| Ttc27 |
T |
C |
17: 75,165,028 (GRCm39) |
Y745H |
probably benign |
Het |
|
| Other mutations in Izumo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00950:Izumo1
|
APN |
7 |
45,272,295 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation