Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02794:Izumo3'

359895

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 #

IGL02794

Quality Score

Status

Chromosome

Chromosomal Location

92032566-92035471 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 92035200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 6 (V6I)

Ref Sequence

ENSEMBL: ENSMUSP00000102725 (fasta)

Gene Model

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

AlphaFold

A6PWV3

Predicted Effect

probably benign
Transcript: ENSMUST00000107108
AA Change: V6I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102725
Gene: ENSMUSG00000028533
AA Change: V6I

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,621,385 (GRCm39)	C1082S	probably benign	Het
Akt2	G	T	7: 27,328,806 (GRCm39)	R176L	probably benign	Het
Aldh16a1	A	G	7: 44,795,018 (GRCm39)	Y484H	probably damaging	Het
Apeh	A	G	9: 107,969,209 (GRCm39)	S280P	possibly damaging	Het
Atp1a4	T	C	1: 172,071,653 (GRCm39)	M481V	probably benign	Het
Atraid	G	A	5: 31,210,214 (GRCm39)	S135N	probably damaging	Het
Camta2	C	T	11: 70,566,484 (GRCm39)	G677D	possibly damaging	Het
Ccdc18	A	G	5: 108,319,614 (GRCm39)	N545S	probably benign	Het
Cic	A	G	7: 24,985,069 (GRCm39)	D1105G	probably damaging	Het
Crisp1	A	T	17: 40,623,957 (GRCm39)	M4K	unknown	Het
Crnkl1	C	T	2: 145,772,532 (GRCm39)	E182K	possibly damaging	Het
Dnmt1	A	T	9: 20,847,847 (GRCm39)	C114S	probably benign	Het
Dsc2	A	T	18: 20,174,788 (GRCm39)	Y496N	probably damaging	Het
Dst	T	C	1: 34,309,910 (GRCm39)	V1528A	probably damaging	Het
Fbxl8	C	T	8: 105,994,752 (GRCm39)	T88M	probably benign	Het
Fbxo10	T	C	4: 45,041,928 (GRCm39)	N767S	probably benign	Het
Gm1527	A	G	3: 28,949,829 (GRCm39)	T30A	unknown	Het
Gorasp2	C	A	2: 70,509,838 (GRCm39)	Y166*	probably null	Het
Gucy2c	T	A	6: 136,690,146 (GRCm39)	Q744L	probably damaging	Het
Heg1	A	T	16: 33,546,992 (GRCm39)	N593I	probably damaging	Het
Ice1	T	A	13: 70,757,278 (GRCm39)	S236C	possibly damaging	Het
Il12b	T	C	11: 44,298,808 (GRCm39)	Y88H	probably damaging	Het
Kcna6	A	G	6: 126,715,515 (GRCm39)	V458A	probably damaging	Het
Kif13b	G	A	14: 65,040,889 (GRCm39)	R1659Q	probably benign	Het
Klk1b1	A	G	7: 43,619,789 (GRCm39)	D116G	possibly damaging	Het
Lama2	T	C	10: 26,917,227 (GRCm39)	T2233A	possibly damaging	Het
Lin9	A	T	1: 180,479,444 (GRCm39)	K59N	probably damaging	Het
Ltbp2	T	C	12: 84,838,709 (GRCm39)	E1083G	probably damaging	Het
Mfsd11	T	A	11: 116,750,177 (GRCm39)	S105T	probably damaging	Het
Mga	T	A	2: 119,776,770 (GRCm39)	I1768N	possibly damaging	Het
Mical3	C	A	6: 120,984,270 (GRCm39)	G202V	probably damaging	Het
Mylk	A	T	16: 34,806,911 (GRCm39)	I1719F	probably benign	Het
Nusap1	T	A	2: 119,460,867 (GRCm39)	F120Y	possibly damaging	Het
Or52e8	T	A	7: 104,624,596 (GRCm39)	M203L	probably benign	Het
Or8b56	T	A	9: 38,739,511 (GRCm39)	C175S	probably damaging	Het
Or8k32	T	C	2: 86,368,492 (GRCm39)	T256A	possibly damaging	Het
Pidd1	T	C	7: 141,023,021 (GRCm39)	Y57C	probably benign	Het
Pik3cd	T	A	4: 149,739,028 (GRCm39)	M671L	probably benign	Het
Ppp5c	A	G	7: 16,740,885 (GRCm39)	V361A	probably benign	Het
Prune2	T	C	19: 17,096,725 (GRCm39)	V743A	probably benign	Het
Siglec1	C	A	2: 130,917,889 (GRCm39)	S996I	possibly damaging	Het
Slc12a7	A	G	13: 73,957,206 (GRCm39)	R948G	possibly damaging	Het
Slc40a1	A	T	1: 45,948,668 (GRCm39)	Y537*	probably null	Het
Smarca4	T	A	9: 21,584,638 (GRCm39)		probably benign	Het
Smg6	C	T	11: 74,944,760 (GRCm39)	P1109S	probably damaging	Het
Sorl1	T	A	9: 41,975,070 (GRCm39)	N513Y	probably damaging	Het
Trim58	C	T	11: 58,531,292 (GRCm39)		probably benign	Het
Trim72	T	C	7: 127,603,704 (GRCm39)	C17R	probably damaging	Het
Ttc3	T	C	16: 94,268,785 (GRCm39)	C1956R	probably damaging	Het
Vmn1r211	G	T	13: 23,036,379 (GRCm39)	T96N	possibly damaging	Het
Vmn1r211	C	A	13: 23,036,376 (GRCm39)	S97I	probably damaging	Het
Vmn1r211	T	A	13: 23,036,377 (GRCm39)	S97C	probably damaging	Het
Vmn2r66	A	T	7: 84,644,623 (GRCm39)	S596T	probably benign	Het
Zfp609	A	G	9: 65,611,602 (GRCm39)	S454P	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
IGL01323:Izumo3	APN	4	92,034,627 (GRCm39)	splice site	probably benign
IGL01586:Izumo3	APN	4	92,034,532 (GRCm39)	critical splice donor site	probably null
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

2015-12-18