Mutagenetix > Incidental Mutation

Incidental Mutation 'V7580:Izumo4'

69418

Institutional Source

Beutler Lab

Gene Symbol

Izumo4

Ensembl Gene

ENSMUSG00000055862

Gene Name

IZUMO family member 4

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

V7580 () of strain stinger

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80702184-80705373 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80703891 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 155 (T155S)

Ref Sequence

ENSEMBL: ENSMUSP00000151397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003438] [ENSMUST00000020420] [ENSMUST00000218090] [ENSMUST00000218184] [ENSMUST00000218610]

AlphaFold

D3Z690

Predicted Effect

probably benign
Transcript: ENSMUST00000003438

SMART Domains

Protein: ENSMUSP00000003438
Gene: ENSMUSG00000003348

Domain	Start	End	E-Value	Type
Mob1_phocein	34	208	6.02e-107	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000020420

SMART Domains

Protein: ENSMUSP00000020420
Gene: ENSMUSG00000020198

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	32	583	6.6e-153	PFAM
Pfam:Cnd1	130	292	2.1e-8	PFAM
low complexity region	629	642	N/A	INTRINSIC
BLVR	660	803	5.3e-80	SMART
low complexity region	835	861	N/A	INTRINSIC
low complexity region	871	881	N/A	INTRINSIC
coiled coil region	910	933	N/A	INTRINSIC
low complexity region	947	964	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000095426
AA Change: T152S

SMART Domains

Protein: ENSMUSP00000093076
Gene: ENSMUSG00000055862
AA Change: T152S

Domain	Start	End	E-Value	Type
Pfam:IZUMO	26	167	1.1e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217823

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218058

Predicted Effect

probably benign
Transcript: ENSMUST00000218090

Predicted Effect

probably benign
Transcript: ENSMUST00000218184
AA Change: T155S

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

unknown
Transcript: ENSMUST00000218330
AA Change: T65S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218439

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218538

Predicted Effect

probably benign
Transcript: ENSMUST00000218610

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219986

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219987

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219420

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219746

Meta Mutation Damage Score

0.0762

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,886,179	M950L	probably benign	Het
Atp6v1h	A	G	1: 5,124,443	T282A	possibly damaging	Het
Casp8ap2	C	T	4: 32,639,944	H333Y	probably benign	Het
Cd36	ACTGTCTGT	ACTGT	5: 17,820,528		probably null	Het
Cfi	T	A	3: 129,854,992	I175K	possibly damaging	Het
D630003M21Rik	T	C	2: 158,201,011	T870A	probably benign	Het
Dnah12	T	A	14: 26,773,093	N1369K	possibly damaging	Het
Dnajc22	T	A	15: 99,101,482	Y183N	probably damaging	Het
Erv3	T	C	2: 131,855,926	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865	T249A	probably benign	Het
Gm10770	T	A	2: 150,179,484	K38*	probably null	Het
Gm4787	G	A	12: 81,377,567	Q606*	probably null	Het
Kcnb2	A	G	1: 15,710,091	I396V	probably benign	Het
Klc1	A	T	12: 111,774,572	I161F	probably benign	Het
Lpar5	C	A	6: 125,081,727	A137E	possibly damaging	Het
Lrp4	C	T	2: 91,488,518	S900L	possibly damaging	Het
Lrrc37a	T	G	11: 103,455,512	N3176T	possibly damaging	Het
Med20	G	A	17: 47,618,832	V65M	probably damaging	Het
Mylk	G	T	16: 34,995,204		probably null	Het
Numbl	T	C	7: 27,279,602	S379P	probably benign	Het
Olfr1406	G	T	1: 173,183,964	L157I	probably benign	Het
Olfr1440	G	A	19: 12,394,550	V96I	probably benign	Het
Otop3	T	A	11: 115,344,838	L432Q	probably damaging	Het
Papln	C	T	12: 83,778,834	R608C	possibly damaging	Het
Pelp1	T	A	11: 70,398,150	T257S	probably damaging	Het
Pigx	T	C	16: 32,087,422	D129G	probably damaging	Het
Pik3cd	A	C	4: 149,657,319	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,654,618	T112A	probably benign	Het
Ppwd1	A	G	13: 104,220,237	Y257H	probably damaging	Het
Recql4	T	C	15: 76,706,169	D705G	possibly damaging	Het
Ror1	A	G	4: 100,440,933	Q501R	probably damaging	Het
Slc30a4	T	A	2: 122,689,538	M136L	probably benign	Het
Spaca1	T	C	4: 34,039,311	E192G	probably damaging	Het
Spata31	C	A	13: 64,921,648	P537T	probably benign	Het
Sptbn2	C	T	19: 4,750,632	R2292C	probably damaging	Het
Tnrc6c	G	A	11: 117,723,326	R770H	probably damaging	Het
Trps1	T	C	15: 50,831,577	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,225,060	V86A	probably benign	Het
Zfp292	C	T	4: 34,806,783	C2087Y	possibly damaging	Het
Zmynd8	G	A	2: 165,812,394	R724*	probably null	Het

Other mutations in Izumo4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02850:Izumo4	APN	10	80704198	unclassified	probably benign
IGL03019:Izumo4	APN	10	80703846	unclassified	probably benign
IGL03391:Izumo4	APN	10	80705113	missense	probably damaging	0.97
F5770:Izumo4	UTSW	10	80703891	missense	probably benign	0.02
IGL02835:Izumo4	UTSW	10	80705125	missense	probably benign
R0304:Izumo4	UTSW	10	80702936	missense	probably damaging	1.00
R0377:Izumo4	UTSW	10	80702840	missense	probably damaging	1.00
R0411:Izumo4	UTSW	10	80703084	missense	probably damaging	0.99
R0498:Izumo4	UTSW	10	80704196	critical splice donor site	probably null
R1822:Izumo4	UTSW	10	80703895	missense	probably damaging	1.00
R1870:Izumo4	UTSW	10	80703735	missense	probably damaging	1.00
R1977:Izumo4	UTSW	10	80703121	missense	probably damaging	1.00
R2237:Izumo4	UTSW	10	80702830	missense	probably damaging	1.00
R5288:Izumo4	UTSW	10	80702805	nonsense	probably null
R5543:Izumo4	UTSW	10	80702834	missense	probably damaging	1.00
R5587:Izumo4	UTSW	10	80703220	missense	probably damaging	1.00
R6199:Izumo4	UTSW	10	80702873	missense	probably damaging	1.00
R6222:Izumo4	UTSW	10	80703051	missense	probably damaging	1.00
R6349:Izumo4	UTSW	10	80702717	start codon destroyed	probably null	0.02
R8264:Izumo4	UTSW	10	80702738	missense
V7581:Izumo4	UTSW	10	80703891	missense	probably benign	0.02
V7582:Izumo4	UTSW	10	80703891	missense	probably benign	0.02
V7583:Izumo4	UTSW	10	80703891	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TCAGCGTCACTGTGGTAAGTGAAC -3'
(R):5'- ACAACCTTGGATTCCAGCAGGAAC -3'

Sequencing Primer
(F):5'- TCTGGGGCTGCTTCTCATAT -3'
(R):5'- ACAAGACTTGGTGGTGGGGTA -3'

Posted On

2013-09-04