Mutagenetix > Incidental Mutation

Incidental Mutation 'R0839:Izumo1'

78105

Institutional Source

Beutler Lab

Gene Symbol

Izumo1

Ensembl Gene

ENSMUSG00000064158

Gene Name

izumo sperm-egg fusion 1

Synonyms

1700058F15Rik

MMRRC Submission

039018-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0839 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45270251-45276653 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45276536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 366 (D366E)

Ref Sequence

ENSEMBL: ENSMUSP00000033100 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033100] [ENSMUST00000057927]

AlphaFold

Q9D9J7

Predicted Effect

probably benign
Transcript: ENSMUST00000033100
AA Change: D366E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000033100
Gene: ENSMUSG00000064158
AA Change: D366E

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: ENSMUST00000209998

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211418

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.1%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 121,920,527 (GRCm39)	V1083M	probably damaging	Het
Aco2	A	G	15: 81,791,736 (GRCm39)		probably null	Het
AI661453	A	T	17: 47,747,752 (GRCm39)	Q8L	probably null	Het
Ankrd42	T	C	7: 92,261,980 (GRCm39)	D295G	possibly damaging	Het
Ccdc73	A	T	2: 104,821,442 (GRCm39)	I464L	probably benign	Het
Cdc5l	A	C	17: 45,704,073 (GRCm39)	M717R	probably benign	Het
Col4a1	G	A	8: 11,271,015 (GRCm39)	P809S	probably damaging	Het
Dctn1	T	C	6: 83,167,459 (GRCm39)	M358T	possibly damaging	Het
Dgkz	A	G	2: 91,765,456 (GRCm39)	S799P	probably benign	Het
Dna2	T	C	10: 62,805,561 (GRCm39)	C933R	probably damaging	Het
Dock6	T	C	9: 21,729,188 (GRCm39)	N1275S	probably benign	Het
Ect2l	A	G	10: 18,017,652 (GRCm39)	I659T	probably benign	Het
Ets1	T	A	9: 32,645,357 (GRCm39)	Y201*	probably null	Het
Gle1	T	A	2: 29,848,462 (GRCm39)	C679S	probably benign	Het
Gm10118	T	G	10: 63,762,643 (GRCm39)		probably benign	Het
Guk1	G	A	11: 59,075,921 (GRCm39)	R146C	probably damaging	Het
H2-Q7	A	G	17: 35,658,688 (GRCm39)	S109G	probably damaging	Het
Igfn1	A	G	1: 135,882,418 (GRCm39)	V2809A	probably damaging	Het
Kctd20	A	T	17: 29,176,872 (GRCm39)	M1L	possibly damaging	Het
Lct	C	T	1: 128,214,346 (GRCm39)	A1809T	probably benign	Het
Manea	T	C	4: 26,327,983 (GRCm39)	I353V	probably damaging	Het
Mybl2	T	C	2: 162,917,688 (GRCm39)	Y65H	probably benign	Het
Myh11	C	T	16: 14,021,042 (GRCm39)	E1744K	probably damaging	Het
Neb	T	C	2: 52,167,560 (GRCm39)	D1922G	probably damaging	Het
Nepro	C	A	16: 44,556,382 (GRCm39)	D513E	probably benign	Het
Nnt	A	T	13: 119,531,192 (GRCm39)	I185K	possibly damaging	Het
Npat	A	T	9: 53,456,480 (GRCm39)	Q17L	probably damaging	Het
Nup155	A	G	15: 8,175,071 (GRCm39)	E956G	possibly damaging	Het
Or1e35	T	A	11: 73,798,138 (GRCm39)	Y60F	probably damaging	Het
Or1x6	A	G	11: 50,939,254 (GRCm39)	I107V	probably benign	Het
Or2a14	T	A	6: 43,130,558 (GRCm39)	F106L	probably benign	Het
Or4q3	A	G	14: 50,583,545 (GRCm39)	V118A	probably damaging	Het
Or8g18	A	T	9: 39,149,146 (GRCm39)	N191K	possibly damaging	Het
Or8g4	A	T	9: 39,661,687 (GRCm39)	I2L	probably benign	Het
Or9e1	G	A	11: 58,732,478 (GRCm39)	M179I	probably benign	Het
Pah	T	C	10: 87,357,924 (GRCm39)	S16P	probably damaging	Het
Pcdh15	C	A	10: 74,462,614 (GRCm39)	P1365Q	probably null	Het
Pds5b	G	T	5: 150,688,427 (GRCm39)	V640F	probably benign	Het
Pgam5	A	T	5: 110,414,996 (GRCm39)	H72Q	probably benign	Het
Plagl2	C	A	2: 153,074,461 (GRCm39)	A147S	probably damaging	Het
Ppfia4	A	T	1: 134,256,545 (GRCm39)	L113Q	probably null	Het
Ppp1r12a	T	C	10: 108,034,722 (GRCm39)	V89A	probably damaging	Het
Ptprc	A	G	1: 138,028,870 (GRCm39)	Y443H	possibly damaging	Het
Ralgapb	T	C	2: 158,315,203 (GRCm39)		probably null	Het
Rgsl1	A	G	1: 153,677,980 (GRCm39)		probably null	Het
Rubcn	A	C	16: 32,647,713 (GRCm39)	I681M	probably damaging	Het
Scaf11	A	G	15: 96,321,434 (GRCm39)	L169S	probably damaging	Het
Scgb1b27	A	G	7: 33,721,276 (GRCm39)	K55E	probably benign	Het
Sos1	A	T	17: 80,741,159 (GRCm39)	I542N	probably damaging	Het
Syf2	T	A	4: 134,663,374 (GRCm39)	V182D	probably damaging	Het
Tapbp	T	C	17: 34,144,717 (GRCm39)	V271A	probably benign	Het
Tmem33	T	A	5: 67,421,651 (GRCm39)	L60Q	probably damaging	Het
Tmf1	A	G	6: 97,153,284 (GRCm39)	V263A	probably damaging	Het
Vps13c	T	C	9: 67,806,020 (GRCm39)	V798A	probably benign	Het
Zfp384	C	A	6: 125,013,631 (GRCm39)	D550E	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
R0750:Izumo1	UTSW	7	45,275,707 (GRCm39)	critical splice donor site	probably null
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'- GGAAGCTACTGGGCACTTTCCTTTG -3'
(R):5'- GGTCCCATGTTCCAGCTACAACTC -3'

Sequencing Primer
(F):5'- CTCACTTAGGAGGACAAGGC -3'
(R):5'- GCTACAACTCCCTCAGATGG -3'

Posted On

2013-10-16