Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03146:Izumo3'

410919

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 #

IGL03146

Quality Score

Status

Chromosome

Chromosomal Location

92032566-92035471 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 92033276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 107 (I107L)

Ref Sequence

ENSEMBL: ENSMUSP00000121187 (fasta)

Gene Model

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

AlphaFold

A6PWV3

Predicted Effect

probably damaging
Transcript: ENSMUST00000107108
AA Change: I177L

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102725
Gene: ENSMUSG00000028533
AA Change: I177L

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 damaging
Transcript: ENSMUST00000143542
AA Change: I107L

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121187
Gene: ENSMUSG00000028533
AA Change: I107L

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	C	8: 25,294,519 (GRCm39)	D360G	probably damaging	Het
Adam6a	A	T	12: 113,509,144 (GRCm39)	T506S	probably damaging	Het
Adamts15	A	G	9: 30,832,863 (GRCm39)	V224A	probably damaging	Het
Arhgef12	G	T	9: 42,885,866 (GRCm39)	D1251E	possibly damaging	Het
Ccdc180	G	T	4: 45,903,840 (GRCm39)		probably benign	Het
Ccdc85c	G	A	12: 108,173,395 (GRCm39)	R387*	probably null	Het
Cfap57	T	A	4: 118,456,216 (GRCm39)	I493F	probably damaging	Het
Chst9	A	G	18: 15,586,035 (GRCm39)	I176T	probably damaging	Het
Clpx	G	T	9: 65,234,112 (GRCm39)	V572L	probably benign	Het
Csmd3	T	A	15: 47,744,873 (GRCm39)	N1374I	probably benign	Het
Cyp2e1	T	A	7: 140,350,134 (GRCm39)	M273K	probably benign	Het
Ehbp1l1	T	C	19: 5,770,061 (GRCm39)	E414G	probably benign	Het
Ehd1	T	C	19: 6,327,368 (GRCm39)	F122L	probably damaging	Het
Fcho1	A	G	8: 72,170,074 (GRCm39)		probably benign	Het
Fermt3	T	C	19: 6,980,631 (GRCm39)	E312G	possibly damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
G3bp2	G	A	5: 92,214,399 (GRCm39)	R132C	probably damaging	Het
Inpp4b	A	T	8: 82,470,410 (GRCm39)	I35F	possibly damaging	Het
Lama3	C	A	18: 12,660,681 (GRCm39)	Q484K	possibly damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mapkbp1	T	C	2: 119,828,955 (GRCm39)		probably benign	Het
Mast4	T	C	13: 102,874,163 (GRCm39)	N1735S	probably benign	Het
Or14a257	T	C	7: 86,138,402 (GRCm39)	D119G	probably damaging	Het
Or4c100	T	A	2: 88,356,488 (GRCm39)	M187K	possibly damaging	Het
Oxct1	T	C	15: 4,130,630 (GRCm39)	L374P	probably damaging	Het
Parp14	G	A	16: 35,678,823 (GRCm39)	Q382*	probably null	Het
Pax2	A	G	19: 44,821,714 (GRCm39)		probably benign	Het
Prkaa1	T	C	15: 5,198,122 (GRCm39)	V146A	probably damaging	Het
Ptprb	C	T	10: 116,164,032 (GRCm39)	A900V	probably benign	Het
Rgs6	A	T	12: 83,099,312 (GRCm39)	D130V	probably damaging	Het
Ryr1	C	A	7: 28,793,457 (GRCm39)	R1344L	probably benign	Het
Scgb1b12	C	A	7: 32,033,969 (GRCm39)	D76E	possibly damaging	Het
Sel1l3	T	A	5: 53,311,585 (GRCm39)	E633D	probably benign	Het
Slc1a7	T	A	4: 107,850,189 (GRCm39)	I100N	probably damaging	Het
Slc25a35	A	G	11: 68,859,678 (GRCm39)	K64E	possibly damaging	Het
Spmip4	A	T	6: 50,550,853 (GRCm39)	V532E	probably damaging	Het
Stil	C	A	4: 114,881,612 (GRCm39)	Q719K	probably damaging	Het
Stim1	T	A	7: 102,070,562 (GRCm39)	L265Q	probably damaging	Het
Tmem191	A	G	16: 17,095,246 (GRCm39)	E169G	probably damaging	Het
Tmem255b	T	C	8: 13,504,174 (GRCm39)	L101P	probably damaging	Het
Trgv3	C	A	13: 19,427,337 (GRCm39)	Y73*	probably null	Het
Zfyve26	G	A	12: 79,330,846 (GRCm39)	Q458*	probably null	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
IGL02794:Izumo3	APN	4	92,035,200 (GRCm39)	missense	probably benign
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

2016-08-02