Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03189:Izumo1'

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

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

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: D181G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033100
Gene: ENSMUSG00000064158
AA Change: D181G

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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