Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02368:Izumo2'

290820

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Izumo2

Ensembl Gene

ENSMUSG00000066500

Gene Name

IZUMO family member 2

Synonyms

1700023D19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02368

Quality Score

Status

Chromosome

Chromosomal Location

44358166-44369268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 44358261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 32 (L32R)

Ref Sequence

ENSEMBL: ENSMUSP00000146467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085422] [ENSMUST00000207182] [ENSMUST00000209004]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000085422
AA Change: L32R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000082543
Gene: ENSMUSG00000066500
AA Change: L32R

Domain	Start	End	E-Value	Type
low complexity region	3	18	N/A	INTRINSIC
Pfam:IZUMO	20	146	1.2e-33	PFAM
transmembrane domain	159	181	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207182

Predicted Effect

probably damaging
Transcript: ENSMUST00000209004
AA Change: L32R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	A	G	18: 69,083,060 (GRCm39)		probably benign	Het
Abca17	C	A	17: 24,506,767 (GRCm39)	V1196L	probably benign	Het
Aldh4a1	G	A	4: 139,375,511 (GRCm39)	W540*	probably null	Het
Antxr2	G	A	5: 98,097,057 (GRCm39)	P352L	probably damaging	Het
Atic	C	T	1: 71,603,724 (GRCm39)		probably benign	Het
Cfhr1	A	G	1: 139,475,551 (GRCm39)		probably benign	Het
Clspn	T	C	4: 126,459,900 (GRCm39)	S207P	probably benign	Het
Depdc1b	A	C	13: 108,500,113 (GRCm39)	T209P	probably benign	Het
Exosc3	A	G	4: 45,319,671 (GRCm39)	I117T	probably damaging	Het
Eya2	T	A	2: 165,605,638 (GRCm39)	D347E	probably damaging	Het
Gm10748	G	T	3: 5,280,061 (GRCm39)		probably benign	Het
Gm17079	T	C	14: 51,930,524 (GRCm39)	N107S	possibly damaging	Het
Gpr68	A	G	12: 100,845,026 (GRCm39)	F173L	probably damaging	Het
Hgf	G	T	5: 16,769,792 (GRCm39)	V89F	possibly damaging	Het
Igsf10	A	T	3: 59,235,652 (GRCm39)	S1510T	probably benign	Het
Il4	A	T	11: 53,503,463 (GRCm39)	N22K	probably damaging	Het
Mark2	A	G	19: 7,261,855 (GRCm39)	L359P	probably damaging	Het
Myo15b	A	G	11: 115,767,828 (GRCm39)	K1376R	probably benign	Het
Ncam1	G	A	9: 49,454,383 (GRCm39)	R543*	probably null	Het
Pax2	A	G	19: 44,823,848 (GRCm39)	N347S	possibly damaging	Het
Ppargc1a	A	G	5: 51,631,498 (GRCm39)	L377P	probably benign	Het
Pum3	A	G	19: 27,403,357 (GRCm39)	V48A	probably benign	Het
Rad1	T	C	15: 10,493,337 (GRCm39)	Y255H	probably benign	Het
Rimbp2	C	T	5: 128,865,218 (GRCm39)		probably null	Het
Rpn2	A	G	2: 157,144,328 (GRCm39)	N330S	probably benign	Het
Rptn	A	G	3: 93,304,478 (GRCm39)	S604G	probably benign	Het
Rragc	A	G	4: 123,814,904 (GRCm39)	D200G	probably benign	Het
Slco4a1	T	G	2: 180,114,921 (GRCm39)	F615V	probably damaging	Het
Snx2	T	C	18: 53,322,793 (GRCm39)	S59P	probably benign	Het
Timp4	A	T	6: 115,223,360 (GRCm39)		probably null	Het
Tln2	A	G	9: 67,148,092 (GRCm39)		probably benign	Het
Txnrd1	C	A	10: 82,731,808 (GRCm39)		probably null	Het

Other mutations in Izumo2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01812:Izumo2	APN	7	44,358,519 (GRCm39)	missense	possibly damaging	0.95
IGL02626:Izumo2	APN	7	44,358,560 (GRCm39)	splice site	probably benign
IGL02850:Izumo2	APN	7	44,358,339 (GRCm39)	missense	probably damaging	1.00
R0003:Izumo2	UTSW	7	44,364,833 (GRCm39)	missense	probably benign	0.25
R0928:Izumo2	UTSW	7	44,364,847 (GRCm39)	missense	possibly damaging	0.92
R6411:Izumo2	UTSW	7	44,369,184 (GRCm39)	missense	probably benign	0.09
R6463:Izumo2	UTSW	7	44,358,498 (GRCm39)	missense	probably benign	0.12
R7083:Izumo2	UTSW	7	44,359,757 (GRCm39)	missense	probably damaging	0.98
R8940:Izumo2	UTSW	7	44,362,470 (GRCm39)	missense	probably benign	0.07
R9171:Izumo2	UTSW	7	44,369,184 (GRCm39)	missense	probably benign
R9380:Izumo2	UTSW	7	44,364,812 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16