Incidental Mutation 'IGL02824:Izumo1'
| ID |
361133 |
| 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 # |
IGL02824
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45270251-45276653 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45275072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 236
(D236G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008605]
[ENSMUST00000033100]
[ENSMUST00000057927]
|
| 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 benign
Transcript: ENSMUST00000033100
AA Change: D236G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000033100
Gene: ENSMUSG00000064158
AA Change: D236G
| 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 |
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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530002B09Rik |
T |
C |
4: 122,596,112 (GRCm39) |
|
probably benign |
Het |
| Aadat |
A |
T |
8: 60,969,056 (GRCm39) |
K93N |
probably benign |
Het |
| Abcb5 |
A |
G |
12: 118,854,420 (GRCm39) |
F832L |
probably benign |
Het |
| Abl1 |
A |
T |
2: 31,690,831 (GRCm39) |
K783N |
probably damaging |
Het |
| Agxt2 |
A |
G |
15: 10,393,891 (GRCm39) |
E423G |
probably null |
Het |
| Alkbh8 |
T |
C |
9: 3,368,021 (GRCm39) |
|
probably null |
Het |
| Ankrd36 |
T |
C |
11: 5,524,246 (GRCm39) |
I171T |
possibly damaging |
Het |
| Ap1b1 |
G |
T |
11: 4,983,738 (GRCm39) |
A664S |
possibly damaging |
Het |
| Cd19 |
T |
C |
7: 126,009,826 (GRCm39) |
D446G |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cyp4f39 |
T |
C |
17: 32,687,659 (GRCm39) |
|
probably null |
Het |
| Ehbp1l1 |
T |
C |
19: 5,769,326 (GRCm39) |
D659G |
probably benign |
Het |
| Eif3l |
A |
G |
15: 78,960,023 (GRCm39) |
|
probably null |
Het |
| F5 |
T |
C |
1: 164,021,916 (GRCm39) |
S1464P |
probably benign |
Het |
| Fut9 |
T |
C |
4: 25,620,037 (GRCm39) |
N259S |
probably damaging |
Het |
| Glb1l3 |
A |
T |
9: 26,761,405 (GRCm39) |
I209N |
probably damaging |
Het |
| Gpd2 |
A |
G |
2: 57,254,339 (GRCm39) |
E671G |
probably null |
Het |
| Heatr5b |
T |
C |
17: 79,081,109 (GRCm39) |
D1381G |
probably damaging |
Het |
| Ifi206 |
A |
T |
1: 173,309,438 (GRCm39) |
I186K |
possibly damaging |
Het |
| Klhl32 |
T |
A |
4: 24,682,237 (GRCm39) |
R149* |
probably null |
Het |
| Lrrn1 |
T |
C |
6: 107,545,495 (GRCm39) |
F431S |
possibly damaging |
Het |
| Man2b2 |
C |
T |
5: 36,979,195 (GRCm39) |
V282I |
probably benign |
Het |
| Mboat2 |
A |
G |
12: 24,996,585 (GRCm39) |
K164R |
probably benign |
Het |
| Mgarp |
T |
C |
3: 51,296,508 (GRCm39) |
T165A |
probably damaging |
Het |
| Midn |
T |
G |
10: 79,989,486 (GRCm39) |
I43S |
possibly damaging |
Het |
| Ndn |
A |
G |
7: 61,998,582 (GRCm39) |
I143V |
possibly damaging |
Het |
| Or6c69 |
T |
C |
10: 129,747,565 (GRCm39) |
E194G |
probably damaging |
Het |
| Or8h9 |
T |
C |
2: 86,789,337 (GRCm39) |
D155G |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,602,345 (GRCm39) |
V278A |
probably benign |
Het |
| Prr30 |
A |
G |
14: 101,435,954 (GRCm39) |
F203L |
probably benign |
Het |
| Scd4 |
T |
C |
19: 44,329,698 (GRCm39) |
L223P |
probably damaging |
Het |
| Setdb1 |
T |
C |
3: 95,247,215 (GRCm39) |
|
probably benign |
Het |
| Smtn |
A |
G |
11: 3,482,658 (GRCm39) |
Y105H |
probably damaging |
Het |
| Spata19 |
A |
G |
9: 27,309,025 (GRCm39) |
I54M |
possibly damaging |
Het |
| Syk |
A |
T |
13: 52,777,319 (GRCm39) |
|
probably benign |
Het |
| Trim44 |
A |
G |
2: 102,230,540 (GRCm39) |
F164L |
possibly damaging |
Het |
| Zfp503 |
C |
T |
14: 22,035,162 (GRCm39) |
G585S |
possibly damaging |
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation