Mutagenetix > Incidental Mutation

Incidental Mutation 'R8543:Izumo1'

659469

Institutional Source

Beutler Lab

Gene Symbol

Izumo1

Ensembl Gene

ENSMUSG00000064158

Gene Name

izumo sperm-egg fusion 1

Synonyms

1700058F15Rik

MMRRC Submission

068508-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8543 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45270251-45276653 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45275678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 329 (V329E)

Ref Sequence

ENSEMBL: ENSMUSP00000033100 (fasta)

Gene Model

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

AlphaFold

Q9D9J7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033100
AA Change: V329E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000033100
Gene: ENSMUSG00000064158
AA Change: V329E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (47/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	T	A	17: 43,624,097 (GRCm39)	L839Q	probably null	Het
Ampd1	T	A	3: 102,986,486 (GRCm39)	F55Y	possibly damaging	Het
Ank3	A	G	10: 69,838,266 (GRCm39)	E891G	probably damaging	Het
Ankrd13c	A	G	3: 157,709,712 (GRCm39)		probably null	Het
Ankrd63	A	G	2: 118,533,604 (GRCm39)		probably benign	Het
Arhgap30	T	C	1: 171,232,530 (GRCm39)	S392P	probably damaging	Het
Arhgef11	A	T	3: 87,589,181 (GRCm39)	K16M	probably damaging	Het
Birc6	T	C	17: 74,872,860 (GRCm39)	V373A	probably damaging	Het
Blm	A	G	7: 80,143,964 (GRCm39)	M822T	probably damaging	Het
Car15	T	C	16: 17,654,713 (GRCm39)	N102D	probably benign	Het
Cdk14	A	T	5: 5,430,079 (GRCm39)	M16K	probably benign	Het
Cep350	A	G	1: 155,738,122 (GRCm39)	Y2574H	probably damaging	Het
Coro1a	C	A	7: 126,301,188 (GRCm39)	C104F	probably damaging	Het
D130043K22Rik	T	A	13: 25,073,852 (GRCm39)	L977Q	probably benign	Het
Dcaf1	T	G	9: 106,735,277 (GRCm39)	S742A	probably benign	Het
Dnajb11	A	T	16: 22,681,335 (GRCm39)	I38L	probably benign	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Fat4	A	C	3: 39,031,643 (GRCm39)	H2476P	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Gm14326	G	A	2: 177,587,452 (GRCm39)	R515W	probably damaging	Het
Gm49368	T	C	7: 127,679,433 (GRCm39)	Y192H	probably damaging	Het
Gm7579	GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG	GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG	7: 141,765,782 (GRCm39)		probably benign	Het
Gpr182	T	C	10: 127,586,861 (GRCm39)	H30R	probably benign	Het
Gprc5c	T	A	11: 114,755,094 (GRCm39)	V257E	probably damaging	Het
Iars2	T	C	1: 185,019,341 (GRCm39)	T982A	probably benign	Het
Ighg2b	C	A	12: 113,270,552 (GRCm39)	A193S	probably damaging	Het
Kcnj6	A	T	16: 94,563,250 (GRCm39)	V398E	possibly damaging	Het
Lef1	T	A	3: 130,909,138 (GRCm39)	N117K	possibly damaging	Het
Ltbp4	T	C	7: 27,024,666 (GRCm39)	S655G	possibly damaging	Het
Magi3	A	T	3: 104,126,984 (GRCm39)	I100N	probably damaging	Het
Mettl17	G	A	14: 52,126,257 (GRCm39)	A222T	probably benign	Het
Notch4	A	G	17: 34,787,394 (GRCm39)	E318G	probably damaging	Het
Nqo2	A	T	13: 34,169,297 (GRCm39)		probably null	Het
Or8k31-ps1	A	T	2: 86,356,386 (GRCm39)	M45K	probably damaging	Het
Ptpn18	T	C	1: 34,511,229 (GRCm39)	S324P	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rin1	A	G	19: 5,102,100 (GRCm39)	D203G	probably damaging	Het
Serpinb9c	T	A	13: 33,340,417 (GRCm39)	E128V	probably damaging	Het
Slc3a1	C	A	17: 85,335,925 (GRCm39)	N22K	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Tmco4	G	T	4: 138,781,251 (GRCm39)	V472L	probably benign	Het
Tmem132d	T	C	5: 128,345,799 (GRCm39)	E241G	probably benign	Het
Trim17	T	A	11: 58,862,281 (GRCm39)	S438T	probably damaging	Het
Trmt44	T	C	5: 35,732,374 (GRCm39)	R6G	probably benign	Het
Vcl	G	T	14: 21,045,127 (GRCm39)	L277F	probably benign	Het
Vmn2r68	C	T	7: 84,883,648 (GRCm39)	M152I	probably benign	Het
Vmn2r94	C	T	17: 18,463,984 (GRCm39)	V769I	possibly damaging	Het
Vps13d	G	T	4: 144,743,353 (GRCm39)	S3027*	probably null	Het
Zfp282	A	G	6: 47,881,561 (GRCm39)	Q416R	probably benign	Het
Zfp668	A	G	7: 127,466,392 (GRCm39)	L264P	probably damaging	Het
Zfp747	A	G	7: 126,973,655 (GRCm39)	Y172H	probably damaging	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
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
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'- AGGACTGCCCTATGGTTCTC -3'
(R):5'- AGCCTGCCTCTGTCTTCAAG -3'

Sequencing Primer
(F):5'- TGTCAGTATTGCCCCCAAAG -3'
(R):5'- ACTTTATATGCCCCAGTACAGG -3'

Posted On

2021-01-18