Incidental Mutation 'IGL03189:Izumo1'
ID 412567
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Izumo1
Ensembl Gene ENSMUSG00000064158
Gene Name izumo sperm-egg fusion 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03189
Quality Score
Status
Chromosome 7
Chromosomal Location 45621811-45628823 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45625164 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 181 (D181G)
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

DomainStartEndE-ValueType
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: D181G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033100
Gene: ENSMUSG00000064158
AA Change: D181G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930412O13Rik A G 2: 9,883,823 probably benign Het
Abcb1b A G 5: 8,845,814 T916A probably benign Het
Adam22 A T 5: 8,111,897 Y50* probably null Het
Adprhl2 T C 4: 126,317,294 probably benign Het
Ahnak G A 19: 9,011,239 V3296M possibly damaging Het
Bfar A G 16: 13,687,501 D125G possibly damaging Het
Bmp3 A T 5: 98,872,720 Q334L probably benign Het
Camsap2 A T 1: 136,281,662 D697E probably damaging Het
Car11 A G 7: 45,702,455 T103A probably damaging Het
Cecr2 T A 6: 120,762,430 S1373T probably benign Het
Cenpm A G 15: 82,234,433 V160A possibly damaging Het
Chl1 A T 6: 103,683,207 I365F possibly damaging Het
Col20a1 C T 2: 181,009,407 Q1089* probably null Het
Csf1r A T 18: 61,105,986 T13S probably benign Het
Fam13a T C 6: 58,956,858 E249G probably damaging Het
Fgd6 G A 10: 94,044,456 V391I probably benign Het
Fhdc1 G A 3: 84,455,061 probably benign Het
Fn3krp T C 11: 121,429,630 I267T probably damaging Het
Fras1 A T 5: 96,743,071 I2820F probably benign Het
Fyb2 A G 4: 105,015,742 I771V probably damaging Het
Glis1 A G 4: 107,615,051 Y275C probably damaging Het
Hdgf A G 3: 87,913,428 T62A possibly damaging Het
Hsd17b3 C T 13: 64,063,087 probably null Het
Iqgap1 T A 7: 80,713,842 Y1655F probably benign Het
Lrp2 T C 2: 69,438,478 probably benign Het
Mark1 T C 1: 184,919,693 N95S probably damaging Het
Mbd5 A G 2: 49,257,751 K658E probably damaging Het
Mcm6 C T 1: 128,344,302 D453N probably damaging Het
Mfsd14a T C 3: 116,641,855 D187G probably benign Het
Mrpl19 G T 6: 81,961,993 S276* probably null Het
Ncoa2 G A 1: 13,190,136 T105M probably damaging Het
Nop14 A G 5: 34,650,628 probably benign Het
Olfr1018 A G 2: 85,823,558 T196A probably benign Het
Olfr1152 G A 2: 87,868,215 A75T possibly damaging Het
Olfr170 T C 16: 19,606,591 T26A probably benign Het
Otud7b G A 3: 96,155,478 S678N probably benign Het
Pcdhb6 G A 18: 37,336,152 V25M probably damaging Het
Prpf39 G T 12: 65,043,302 G5* probably null Het
Serpinb9d T C 13: 33,202,912 V321A probably damaging Het
Sh2b1 A G 7: 126,468,530 S613P possibly damaging Het
Snx30 T C 4: 59,857,452 I55T probably benign Het
Spata13 T C 14: 60,691,614 I207T possibly damaging Het
Suco T C 1: 161,857,337 probably benign Het
Svs2 A G 2: 164,237,112 S292P possibly damaging Het
Tcam1 A G 11: 106,285,386 I313V probably benign Het
Tmem45a A T 16: 56,811,573 Y227* probably null Het
Tnfsf15 A G 4: 63,730,052 probably benign Het
Ttc26 C T 6: 38,425,231 P553S probably benign Het
Vmn2r4 C A 3: 64,389,168 R732L possibly damaging Het
Wdr7 C T 18: 63,760,601 T602I probably benign Het
Other mutations in Izumo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Izumo1 APN 7 45622871 nonsense probably null
IGL01380:Izumo1 APN 7 45627095 missense probably benign
IGL02824:Izumo1 APN 7 45625648 missense probably benign 0.01
IGL03389:Izumo1 APN 7 45624189 missense probably damaging 1.00
R0062:Izumo1 UTSW 7 45627197 missense probably benign
R0062:Izumo1 UTSW 7 45627197 missense probably benign
R0233:Izumo1 UTSW 7 45624168 missense probably damaging 1.00
R0233:Izumo1 UTSW 7 45624168 missense probably damaging 1.00
R0609:Izumo1 UTSW 7 45622899 missense probably benign 0.11
R0750:Izumo1 UTSW 7 45626283 critical splice donor site probably null
R0839:Izumo1 UTSW 7 45627112 missense probably benign 0.00
R0959:Izumo1 UTSW 7 45624991 missense probably damaging 1.00
R1024:Izumo1 UTSW 7 45627174 missense probably benign 0.05
R1469:Izumo1 UTSW 7 45623013 missense probably damaging 1.00
R1469:Izumo1 UTSW 7 45623013 missense probably damaging 1.00
R4771:Izumo1 UTSW 7 45622809 missense probably benign 0.41
R4771:Izumo1 UTSW 7 45622810 missense probably damaging 0.99
R4825:Izumo1 UTSW 7 45624987 nonsense probably null
R4839:Izumo1 UTSW 7 45626233 missense probably benign 0.33
R7140:Izumo1 UTSW 7 45626112 missense probably benign 0.22
R7143:Izumo1 UTSW 7 45627095 missense probably benign 0.00
R8027:Izumo1 UTSW 7 45626254 missense probably benign 0.33
R8543:Izumo1 UTSW 7 45626254 missense possibly damaging 0.86
R8766:Izumo1 UTSW 7 45627072 missense probably benign
R9114:Izumo1 UTSW 7 45627159 missense probably benign 0.00
Posted On 2016-08-02