Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01323:Izumo3'

74148

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Izumo3

Ensembl Gene

ENSMUSG00000028533

Gene Name

IZUMO family member 3

Synonyms

1700011H22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL01323

Quality Score

Status

Chromosome

Chromosomal Location

92032566-92035471 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 92034627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121187 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107108] [ENSMUST00000143542]

AlphaFold

A6PWV3

Predicted Effect

probably benign
Transcript: ENSMUST00000107108

SMART Domains

Protein: ENSMUSP00000102725
Gene: ENSMUSG00000028533

Domain	Start	End	E-Value	Type
low complexity region	7	17	N/A	INTRINSIC
Pfam:IZUMO	22	165	6.7e-44	PFAM
transmembrane domain	179	201	N/A	INTRINSIC
low complexity region	214	227	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143542

SMART Domains

Protein: ENSMUSP00000121187
Gene: ENSMUSG00000028533

Domain	Start	End	E-Value	Type
Pfam:IZUMO	3	95	4.2e-27	PFAM
transmembrane domain	109	131	N/A	INTRINSIC
low complexity region	144	157	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef2	A	G	2: 166,713,415 (GRCm39)	D1272G	probably damaging	Het
Ascl2	A	G	7: 142,522,125 (GRCm39)	S108P	probably benign	Het
B3gat1	T	C	9: 26,667,206 (GRCm39)	V146A	possibly damaging	Het
Barhl1	C	T	2: 28,805,558 (GRCm39)	S45N	probably benign	Het
Birc6	C	T	17: 74,929,920 (GRCm39)	A2370V	probably damaging	Het
C1qtnf7	A	G	5: 43,766,602 (GRCm39)	D67G	possibly damaging	Het
Cand2	A	G	6: 115,762,086 (GRCm39)	T171A	probably benign	Het
Ccdc77	T	C	6: 120,311,757 (GRCm39)	Q247R	probably benign	Het
Cenpp	A	T	13: 49,801,118 (GRCm39)	V100D	probably damaging	Het
Cep135	A	G	5: 76,739,612 (GRCm39)	T3A	probably benign	Het
Eef2k	T	C	7: 120,484,038 (GRCm39)		probably benign	Het
Fga	T	C	3: 82,937,518 (GRCm39)	S132P	probably damaging	Het
Gpr6	T	A	10: 40,947,555 (GRCm39)	N9I	possibly damaging	Het
Gvin2	A	G	7: 105,546,009 (GRCm39)	S2348P	possibly damaging	Het
Hacd3	A	G	9: 64,905,587 (GRCm39)	F184L	probably damaging	Het
Heatr1	T	C	13: 12,413,819 (GRCm39)	I132T	possibly damaging	Het
Igfbp7	A	G	5: 77,499,884 (GRCm39)		probably benign	Het
Ighv8-6	T	C	12: 115,129,477 (GRCm39)	D93G	possibly damaging	Het
Jade2	T	C	11: 51,716,165 (GRCm39)	T347A	possibly damaging	Het
Kif18a	A	G	2: 109,128,787 (GRCm39)	T419A	probably benign	Het
Krt34	A	G	11: 99,929,606 (GRCm39)	S267P	possibly damaging	Het
Krt4	T	G	15: 101,828,716 (GRCm39)	K383Q	probably damaging	Het
Lgals7	G	T	7: 28,564,989 (GRCm39)	E42D	probably benign	Het
Morc2b	A	G	17: 33,356,293 (GRCm39)	V493A	possibly damaging	Het
Mtif2	T	A	11: 29,491,447 (GRCm39)	S557R	probably damaging	Het
Nup43	T	A	10: 7,545,320 (GRCm39)	F83I	probably benign	Het
Oosp2	A	G	19: 11,624,825 (GRCm39)	L155S	probably damaging	Het
Or1o1	G	T	17: 37,717,031 (GRCm39)	M197I	probably benign	Het
Plxnd1	T	A	6: 115,943,760 (GRCm39)	T1180S	possibly damaging	Het
Prpf39	T	A	12: 65,089,498 (GRCm39)	F79I	possibly damaging	Het
Prph	G	A	15: 98,956,517 (GRCm39)	S465N	possibly damaging	Het
Purg	A	T	8: 33,876,631 (GRCm39)	I90L	probably damaging	Het
Pxdn	C	A	12: 30,037,136 (GRCm39)	Q305K	probably benign	Het
R3hdm1	G	A	1: 128,144,280 (GRCm39)	S816N	probably benign	Het
Src	G	A	2: 157,311,423 (GRCm39)	G461R	probably damaging	Het
Tmem201	G	A	4: 149,804,045 (GRCm39)		probably benign	Het
Tnfrsf22	G	A	7: 143,197,111 (GRCm39)	P76L	probably damaging	Het
Triml1	T	C	8: 43,591,600 (GRCm39)		probably null	Het
Upp1	A	G	11: 9,086,100 (GRCm39)	*312W	probably null	Het
Wdfy3	G	T	5: 102,042,930 (GRCm39)	S1940R	probably damaging	Het
Xpc	T	C	6: 91,469,335 (GRCm39)	Y804C	probably damaging	Het
Xrn2	C	T	2: 146,876,767 (GRCm39)		probably benign	Het
Zfp106	A	T	2: 120,354,945 (GRCm39)	D1275E	possibly damaging	Het

Other mutations in Izumo3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Izumo3	APN	4	92,035,217 (GRCm39)	intron	probably benign
IGL01586:Izumo3	APN	4	92,034,532 (GRCm39)	critical splice donor site	probably null
IGL02794:Izumo3	APN	4	92,035,200 (GRCm39)	missense	probably benign
IGL03146:Izumo3	APN	4	92,033,276 (GRCm39)	missense	probably damaging	0.97
IGL03180:Izumo3	APN	4	92,034,524 (GRCm39)	splice site	probably benign
R0053:Izumo3	UTSW	4	92,033,267 (GRCm39)	missense	probably damaging	0.99
R0137:Izumo3	UTSW	4	92,035,437 (GRCm39)	splice site	probably benign
R1222:Izumo3	UTSW	4	92,033,284 (GRCm39)	missense	probably damaging	1.00
R1558:Izumo3	UTSW	4	92,035,140 (GRCm39)	missense	probably damaging	1.00
R1605:Izumo3	UTSW	4	92,032,977 (GRCm39)	missense	probably damaging	0.99
R4413:Izumo3	UTSW	4	92,035,136 (GRCm39)	missense	probably damaging	1.00
R4834:Izumo3	UTSW	4	92,035,208 (GRCm39)	missense	possibly damaging	0.95
R5362:Izumo3	UTSW	4	92,035,037 (GRCm39)	missense	possibly damaging	0.87
R7348:Izumo3	UTSW	4	92,035,455 (GRCm39)	missense	possibly damaging	0.71
R7783:Izumo3	UTSW	4	92,033,260 (GRCm39)	missense	probably damaging	0.98
R8104:Izumo3	UTSW	4	92,035,145 (GRCm39)	nonsense	probably null
R8343:Izumo3	UTSW	4	92,034,581 (GRCm39)	missense	probably damaging	0.99
R8803:Izumo3	UTSW	4	92,033,310 (GRCm39)	critical splice acceptor site	probably null
R8836:Izumo3	UTSW	4	92,033,216 (GRCm39)	critical splice donor site	probably null
R9327:Izumo3	UTSW	4	92,035,050 (GRCm39)	missense	probably damaging	0.96
R9556:Izumo3	UTSW	4	92,035,117 (GRCm39)	missense	possibly damaging	0.46
R9633:Izumo3	UTSW	4	92,034,795 (GRCm39)	missense	probably damaging	0.99
R9788:Izumo3	UTSW	4	92,035,037 (GRCm39)	missense	probably benign	0.04
Z1088:Izumo3	UTSW	4	92,035,170 (GRCm39)	missense	probably damaging	0.98

Posted On

2013-10-07