Mutagenetix > Incidental Mutation

Incidental Mutation 'R0609:Izumo1'

54522

Institutional Source

Beutler Lab

Gene Symbol

Izumo1

Ensembl Gene

ENSMUSG00000064158

Gene Name

izumo sperm-egg fusion 1

Synonyms

1700058F15Rik

MMRRC Submission

038798-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0609 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45270251-45276653 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45272323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 35 (T35S)

Ref Sequence

ENSEMBL: ENSMUSP00000033100 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008605] [ENSMUST00000033100] [ENSMUST00000057927] [ENSMUST00000209379] [ENSMUST00000210150]

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: T35S

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000033100
Gene: ENSMUSG00000064158
AA Change: T35S

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

probably benign
Transcript: ENSMUST00000209379

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209590

Predicted Effect

probably benign
Transcript: ENSMUST00000210150

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	A	T	14: 35,533,418 (GRCm39)		probably null	Het
Abcb4	T	A	5: 8,997,376 (GRCm39)	C952S	probably damaging	Het
Adamtsl2	A	G	2: 26,979,647 (GRCm39)	D272G	probably benign	Het
Aim2	G	A	1: 173,289,530 (GRCm39)	D158N	probably damaging	Het
Aldh3b1	C	T	19: 3,964,024 (GRCm39)	R426H	probably damaging	Het
Apoc2	A	G	7: 19,407,278 (GRCm39)	S28P	probably benign	Het
Arfgef3	G	A	10: 18,473,179 (GRCm39)	T1628I	probably benign	Het
Atp10a	G	A	7: 58,469,488 (GRCm39)		probably null	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Bmp8b	T	A	4: 123,015,692 (GRCm39)	D226E	probably benign	Het
Brsk2	T	C	7: 141,552,229 (GRCm39)	Y618H	probably damaging	Het
Casp12	T	A	9: 5,346,554 (GRCm39)	F27Y	probably damaging	Het
Casp8	T	A	1: 58,883,951 (GRCm39)	N439K	probably benign	Het
Ccdc175	T	A	12: 72,204,281 (GRCm39)	K253N	probably benign	Het
Cdc42bpa	A	G	1: 179,867,744 (GRCm39)	H193R	probably damaging	Het
Cdk17	T	C	10: 93,052,334 (GRCm39)	M105T	probably benign	Het
Cdon	C	A	9: 35,389,907 (GRCm39)	P854T	probably damaging	Het
Cep44	A	G	8: 56,997,187 (GRCm39)	M117T	possibly damaging	Het
Cep89	A	T	7: 35,134,955 (GRCm39)	E674D	probably damaging	Het
Cit	C	T	5: 116,012,002 (GRCm39)	A203V	probably damaging	Het
Clstn1	C	A	4: 149,713,757 (GRCm39)		probably null	Het
Col7a1	T	A	9: 108,787,215 (GRCm39)	D565E	unknown	Het
Cpb1	T	A	3: 20,316,638 (GRCm39)	Y304F	probably damaging	Het
Cps1	T	G	1: 67,211,961 (GRCm39)	Y710D	probably damaging	Het
Creb3l1	T	C	2: 91,817,398 (GRCm39)	T372A	possibly damaging	Het
Dars1	A	G	1: 128,333,118 (GRCm39)	V102A	probably benign	Het
Dhx35	C	T	2: 158,659,335 (GRCm39)	T168I	possibly damaging	Het
Dnah5	T	C	15: 28,327,925 (GRCm39)	S2100P	probably benign	Het
Dst	T	C	1: 34,306,041 (GRCm39)		probably null	Het
Egflam	A	C	15: 7,283,004 (GRCm39)	L351R	possibly damaging	Het
Elp2	T	A	18: 24,759,213 (GRCm39)	D523E	probably benign	Het
Exo5	C	A	4: 120,778,881 (GRCm39)	G328V	probably damaging	Het
Fut9	A	G	4: 25,620,811 (GRCm39)	M1T	probably null	Het
Galnt5	A	G	2: 57,914,637 (GRCm39)	N584S	possibly damaging	Het
Gbp3	T	C	3: 142,273,533 (GRCm39)	V360A	probably damaging	Het
Gdf6	G	A	4: 9,859,977 (GRCm39)	C353Y	probably damaging	Het
Hace1	A	G	10: 45,524,965 (GRCm39)	T244A	probably damaging	Het
Hr	T	C	14: 70,797,097 (GRCm39)	I500T	probably benign	Het
Ifnl2	A	T	7: 28,208,707 (GRCm39)	L115Q	probably damaging	Het
Iigp1	T	C	18: 60,522,896 (GRCm39)	F5L	probably benign	Het
Inhbb	A	G	1: 119,345,146 (GRCm39)	L381P	probably damaging	Het
Irx3	A	T	8: 92,527,721 (GRCm39)	S50T	probably benign	Het
Ivns1abp	C	T	1: 151,235,896 (GRCm39)	T363I	probably benign	Het
Kank4	A	G	4: 98,665,342 (GRCm39)	S651P	probably damaging	Het
Kit	T	C	5: 75,771,539 (GRCm39)	V232A	probably benign	Het
Klhl11	T	C	11: 100,354,540 (GRCm39)	Y427C	probably damaging	Het
Laptm4b	T	A	15: 34,258,835 (GRCm39)	N36K	probably damaging	Het
Lrrk1	T	C	7: 65,916,363 (GRCm39)		probably null	Het
Mamdc4	G	T	2: 25,454,205 (GRCm39)	Q1042K	probably benign	Het
Mical2	A	G	7: 111,920,647 (GRCm39)		probably null	Het
Ms4a3	C	A	19: 11,608,725 (GRCm39)	V176F	possibly damaging	Het
Myo3a	T	C	2: 22,338,324 (GRCm39)	V427A	probably benign	Het
Myo3a	A	C	2: 22,401,110 (GRCm39)	E626D	possibly damaging	Het
Nckap5	A	T	1: 125,955,025 (GRCm39)	L509*	probably null	Het
Ndufa5	A	T	6: 24,519,248 (GRCm39)	D64E	possibly damaging	Het
Nedd4l	T	C	18: 65,341,532 (GRCm39)	Y753H	probably damaging	Het
Nynrin	T	C	14: 56,110,218 (GRCm39)	V1775A	probably damaging	Het
Oplah	A	G	15: 76,187,192 (GRCm39)	S570P	probably benign	Het
Or14c39	T	C	7: 86,344,084 (GRCm39)	V140A	possibly damaging	Het
Or2ag1b	A	T	7: 106,288,205 (GRCm39)	H244Q	probably damaging	Het
Or4q3	T	C	14: 50,583,383 (GRCm39)	Y141C	probably damaging	Het
Or5t18	A	G	2: 86,637,205 (GRCm39)	L46S	probably damaging	Het
Or9r3	G	A	10: 129,948,449 (GRCm39)	S70F	probably damaging	Het
Osbpl11	C	A	16: 33,054,814 (GRCm39)	Y632*	probably null	Het
Osbpl5	A	T	7: 143,248,558 (GRCm39)	L644Q	probably damaging	Het
Pcdhb19	T	C	18: 37,631,005 (GRCm39)	W267R	probably benign	Het
Pkhd1l1	A	C	15: 44,330,820 (GRCm39)	S132R	possibly damaging	Het
Pramel23	A	T	4: 143,425,073 (GRCm39)	D123E	probably benign	Het
Ptpn13	T	A	5: 103,704,011 (GRCm39)	S1348T	probably benign	Het
Rc3h1	T	A	1: 160,757,705 (GRCm39)	W8R	probably damaging	Het
Rgs3	T	G	4: 62,544,173 (GRCm39)	V315G	probably damaging	Het
Rora	T	A	9: 69,269,151 (GRCm39)	M82K	probably damaging	Het
Rph3al	T	C	11: 75,799,795 (GRCm39)	I55V	probably benign	Het
Sag	T	C	1: 87,740,713 (GRCm39)	V45A	probably damaging	Het
Scn3a	T	C	2: 65,366,854 (GRCm39)	E56G	probably damaging	Het
Sec24c	T	G	14: 20,737,016 (GRCm39)	V324G	probably damaging	Het
Sptbn1	A	G	11: 30,088,979 (GRCm39)	L748S	probably damaging	Het
Stard9	A	T	2: 120,536,787 (GRCm39)	D4186V	probably damaging	Het
Stk39	T	C	2: 68,196,511 (GRCm39)	E306G	probably damaging	Het
Sycp1	C	A	3: 102,806,165 (GRCm39)		probably null	Het
Taf2	A	C	15: 54,923,446 (GRCm39)	L277R	probably damaging	Het
Tasor	C	T	14: 27,183,707 (GRCm39)	T722I	probably benign	Het
Tbc1d23	T	A	16: 56,993,469 (GRCm39)	I566F	possibly damaging	Het
Tekt5	T	C	16: 10,179,168 (GRCm39)	T400A	possibly damaging	Het
Tgfbrap1	T	C	1: 43,099,301 (GRCm39)	H401R	probably benign	Het
Tie1	T	A	4: 118,333,344 (GRCm39)	I841L	possibly damaging	Het
Tln1	T	G	4: 43,544,645 (GRCm39)	T1095P	possibly damaging	Het
Tmem147	A	G	7: 30,427,527 (GRCm39)	Y72H	probably benign	Het
Tnfaip2	A	G	12: 111,419,941 (GRCm39)	N691S	probably benign	Het
Trim24	G	A	6: 37,934,718 (GRCm39)	C811Y	probably damaging	Het
Trim30b	T	A	7: 104,007,183 (GRCm39)		probably benign	Het
Trpc4	T	G	3: 54,102,189 (GRCm39)	L29R	probably damaging	Het
Trpm6	A	T	19: 18,803,226 (GRCm39)	I890F	probably damaging	Het
Ttc23l	C	T	15: 10,504,622 (GRCm39)	E442K	probably benign	Het
Tut7	A	T	13: 59,947,596 (GRCm39)	C506*	probably null	Het
Uggt2	A	G	14: 119,332,748 (GRCm39)	V62A	probably damaging	Het
Ugt1a6a	C	A	1: 88,066,606 (GRCm39)	S137R	probably benign	Het
Unc13a	A	G	8: 72,111,111 (GRCm39)	Y367H	probably damaging	Het
Vmn2r49	A	G	7: 9,710,233 (GRCm39)	I833T	probably benign	Het
Vmn2r7	T	C	3: 64,623,900 (GRCm39)	D231G	probably benign	Het
Ythdc2	A	T	18: 44,997,424 (GRCm39)	M994L	probably benign	Het
Zfp804a	G	A	2: 82,087,932 (GRCm39)	S587N	probably damaging	Het
Zswim2	A	G	2: 83,754,003 (GRCm39)	I219T	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
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

Predicted Primers

PCR Primer
(F):5'- TGAGGTTGGGGAGTCCAAGTTCAC -3'
(R):5'- TACCCATGAAGCCATCGGGCAAAG -3'

Sequencing Primer
(F):5'- AGCTCTGGAATCCTCTAAGACTG -3'
(R):5'- gactactacacccagccac -3'

Posted On

2013-07-11