Mutagenetix > Incidental Mutation

Incidental Mutation 'R5362:Izumo3'

422861

Institutional Source

Beutler Lab

Gene Symbol

Izumo3

Ensembl Gene

ENSMUSG00000028533

Gene Name

IZUMO family member 3

Synonyms

1700011H22Rik

MMRRC Submission

043264-MU

Accession Numbers

Essential gene?

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

Stock #

R5362 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92032566-92035471 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92035037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 60 (I60K)

Ref Sequence

ENSEMBL: ENSMUSP00000102725 (fasta)

Gene Model

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

AlphaFold

A6PWV3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107108
AA Change: I60K

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102725
Gene: ENSMUSG00000028533
AA Change: I60K

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

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	A	T	6: 133,271,445 (GRCm39)	D163V	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ankrd17	G	A	5: 90,413,404 (GRCm39)	A1170V	probably damaging	Het
Ano1	A	C	7: 144,202,337 (GRCm39)		probably benign	Het
Atl2	T	C	17: 80,168,890 (GRCm39)	N37D	probably damaging	Het
C2cd5	T	C	6: 143,028,969 (GRCm39)	Y90C	probably damaging	Het
Carm1	A	G	9: 21,498,655 (GRCm39)	N499S	probably benign	Het
Ccdc47	G	A	11: 106,099,039 (GRCm39)		probably null	Het
Cd300lf	G	T	11: 115,007,940 (GRCm39)	L251M	probably damaging	Het
Cfap74	A	G	4: 155,522,623 (GRCm39)	S670G	probably damaging	Het
Clec4a1	A	G	6: 122,909,196 (GRCm39)	D188G	probably damaging	Het
Col4a1	T	C	8: 11,295,760 (GRCm39)		probably benign	Het
Csn2	T	A	5: 87,842,508 (GRCm39)	H165L	probably benign	Het
Cstdc1	G	T	2: 148,625,298 (GRCm39)	L77F	probably damaging	Het
Dlx3	T	C	11: 95,011,326 (GRCm39)	V60A	possibly damaging	Het
Elp1	A	C	4: 56,778,969 (GRCm39)	I616S	probably damaging	Het
Fam221a	A	G	6: 49,353,049 (GRCm39)	H21R	probably damaging	Het
Foxj3	T	A	4: 119,477,340 (GRCm39)	H349Q	unknown	Het
Gm37240	G	A	3: 84,423,000 (GRCm39)	T123I	probably damaging	Het
Gpc1	A	T	1: 92,782,615 (GRCm39)	T121S	probably benign	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Itga2b	A	G	11: 102,351,961 (GRCm39)	V512A	probably damaging	Het
Itgae	A	G	11: 73,002,675 (GRCm39)	Y144C	probably damaging	Het
Kif9	G	A	9: 110,319,012 (GRCm39)	V159M	probably damaging	Het
Lrp1b	T	C	2: 41,265,914 (GRCm39)	D229G	probably damaging	Het
Nkpd1	G	A	7: 19,257,193 (GRCm39)	G324D	probably damaging	Het
Nrp2	T	A	1: 62,808,221 (GRCm39)	Y617N	probably benign	Het
Ocm	T	C	5: 143,960,674 (GRCm39)	D91G	probably damaging	Het
Or4l15	A	G	14: 50,197,986 (GRCm39)	L181P	possibly damaging	Het
Or52ad1	A	G	7: 102,995,454 (GRCm39)	V227A	probably damaging	Het
Or52n2b	A	G	7: 104,565,834 (GRCm39)	I223T	probably damaging	Het
Or6c70	T	C	10: 129,710,422 (GRCm39)	E68G	probably damaging	Het
Pex5l	G	A	3: 33,047,065 (GRCm39)	A295V	probably damaging	Het
Plekhg4	T	A	8: 106,108,030 (GRCm39)	V1029E	possibly damaging	Het
Pou2f2	G	A	7: 24,792,320 (GRCm39)	P512S	probably benign	Het
Prpf8	G	A	11: 75,397,236 (GRCm39)	R2023Q	possibly damaging	Het
Ptprd	A	T	4: 76,047,050 (GRCm39)	S399R	probably damaging	Het
Qrich2	T	C	11: 116,337,976 (GRCm39)	Y1889C	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Ranbp6	G	T	19: 29,789,128 (GRCm39)	T408K	probably benign	Het
Scn7a	G	A	2: 66,530,342 (GRCm39)	R668C	probably damaging	Het
Sertad4	T	C	1: 192,529,414 (GRCm39)	N134S	probably damaging	Het
Spg11	G	T	2: 121,891,481 (GRCm39)	N1963K	probably damaging	Het
Svil	C	T	18: 5,057,345 (GRCm39)	P598S	probably damaging	Het
Top2a	T	C	11: 98,909,738 (GRCm39)	N120S	probably damaging	Het
Trappc9	C	T	15: 72,930,066 (GRCm39)	E97K	possibly damaging	Het
Vmn1r91	A	T	7: 19,835,386 (GRCm39)	T102S	probably benign	Het
Vmn2r99	G	T	17: 19,599,601 (GRCm39)	M428I	probably benign	Het
Zfp62	A	T	11: 49,107,439 (GRCm39)	H510L	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- ATGTGTGGGGTAGGCAATAATC -3'
(R):5'- GTGAACCAGTTGCCAAGACAAC -3'

Sequencing Primer
(F):5'- TGTGGGGTAGGCAATAATCATATC -3'
(R):5'- GTTGCCAAGACAACCTGTG -3'

Posted On

2016-08-04