Incidental Mutation 'R0750:Izumo1'
| ID |
70279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Izumo1
|
| Ensembl Gene |
ENSMUSG00000064158 |
| Gene Name |
izumo sperm-egg fusion 1 |
| Synonyms |
1700058F15Rik |
| MMRRC Submission |
038930-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0750 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
45270251-45276653 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 45275707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033100]
[ENSMUST00000033100]
[ENSMUST00000057927]
|
| AlphaFold |
Q9D9J7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033100
|
| SMART Domains |
Protein: ENSMUSP00000033100
Gene: ENSMUSG00000064158
| 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 null
Transcript: ENSMUST00000033100
|
| SMART Domains |
Protein: ENSMUSP00000033100
Gene: ENSMUSG00000064158
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211418
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.3%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
T |
4: 156,251,394 (GRCm39) |
L1974* |
probably null |
Het |
| Brd4 |
T |
C |
17: 32,439,226 (GRCm39) |
E418G |
probably benign |
Het |
| Brip1 |
G |
A |
11: 85,952,325 (GRCm39) |
S1152L |
possibly damaging |
Het |
| Btrc |
T |
G |
19: 45,491,585 (GRCm39) |
F81C |
probably damaging |
Het |
| Cep85l |
A |
G |
10: 53,157,642 (GRCm39) |
L585P |
probably damaging |
Het |
| Cfap46 |
T |
G |
7: 139,234,586 (GRCm39) |
E671D |
probably damaging |
Het |
| Dsg1a |
T |
C |
18: 20,473,210 (GRCm39) |
L761P |
probably benign |
Het |
| Ece2 |
G |
T |
16: 20,451,800 (GRCm39) |
V396L |
probably benign |
Het |
| Garin4 |
G |
A |
1: 190,896,682 (GRCm39) |
|
probably benign |
Het |
| Hs6st3 |
CGGAGGAGGAGGAGGAGGA |
CGGAGGAGGAGGAGGA |
14: 119,376,119 (GRCm39) |
|
probably benign |
Het |
| Id2 |
A |
G |
12: 25,145,670 (GRCm39) |
S114P |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,861,839 (GRCm39) |
F1133S |
probably damaging |
Het |
| Krt35 |
A |
G |
11: 99,986,979 (GRCm39) |
S12P |
possibly damaging |
Het |
| Or5a1 |
T |
C |
19: 12,098,077 (GRCm39) |
|
probably null |
Het |
| Pkdrej |
G |
T |
15: 85,702,275 (GRCm39) |
D1220E |
probably benign |
Het |
| Pramel32 |
A |
G |
4: 88,545,905 (GRCm39) |
F479S |
probably benign |
Het |
| Sema3a |
G |
A |
5: 13,607,092 (GRCm39) |
|
probably null |
Het |
| Tmed6 |
T |
C |
8: 107,788,401 (GRCm39) |
Y182C |
possibly damaging |
Het |
| Tmem174 |
G |
T |
13: 98,773,787 (GRCm39) |
N14K |
probably damaging |
Het |
| Tmem87b |
T |
C |
2: 128,660,356 (GRCm39) |
L33P |
possibly damaging |
Het |
| Vmn1r16 |
T |
C |
6: 57,299,812 (GRCm39) |
Y270C |
probably benign |
Het |
| Vps37d |
A |
T |
5: 135,103,294 (GRCm39) |
L116Q |
possibly damaging |
Het |
| Zfp592 |
A |
G |
7: 80,674,493 (GRCm39) |
S486G |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTATTGGCTGCTGCCAGGACTG -3'
(R):5'- AAGCCTGCCTCTGTCTTCAAGC -3'
Sequencing Primer
(F):5'- GTATTGCCCCCAAAGCATTCAG -3'
(R):5'- aaagggggagggggtgg -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation