Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02567:Zfyve9'

298847

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfyve9

Ensembl Gene

ENSMUSG00000034557

Gene Name

zinc finger, FYVE domain containing 9

Synonyms

Madhip

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.466) question?

Stock #

IGL02567

Quality Score

Status

Chromosome

Chromosomal Location

108637466-108780798 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 108674523 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 1095 (V1095G)

Ref Sequence

ENSEMBL: ENSMUSP00000102268 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042185] [ENSMUST00000106657] [ENSMUST00000106658]

AlphaFold

A2A8R0

Predicted Effect

probably damaging
Transcript: ENSMUST00000042185
AA Change: V404G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039852
Gene: ENSMUSG00000034557
AA Change: V404G

Domain	Start	End	E-Value	Type
Blast:FYVE	7	40	4e-7	BLAST
Pfam:SARA	52	92	1e-25	PFAM
Pfam:DUF3480	328	681	1.4e-189	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106657
AA Change: V1095G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102268
Gene: ENSMUSG00000034557
AA Change: V1095G

Domain	Start	End	E-Value	Type
low complexity region	230	243	N/A	INTRINSIC
low complexity region	471	487	N/A	INTRINSIC
low complexity region	578	587	N/A	INTRINSIC
Blast:FYVE	590	618	7e-6	BLAST
FYVE	663	731	2.38e-26	SMART
Pfam:SARA	745	783	1.3e-22	PFAM
Pfam:DUF3480	1020	1372	1e-178	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106658
AA Change: V1036G

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102269
Gene: ENSMUSG00000034557
AA Change: V1036G

Domain	Start	End	E-Value	Type
low complexity region	230	243	N/A	INTRINSIC
low complexity region	471	487	N/A	INTRINSIC
low complexity region	578	587	N/A	INTRINSIC
Blast:FYVE	590	618	8e-6	BLAST
FYVE	663	731	2.38e-26	SMART
Pfam:DUF3480	960	1313	5.5e-189	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a double zinc finger motif-containing protein that participates in the transforming growth factor-beta (TGFB) signalling pathway. The encoded protein interacts directly with SMAD2 and SMAD3, and recruits SMAD2 to the TGFB receptor. There are multiple pseudogenes for this gene on chromosomes 2, 15, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	C	A	11: 53,372,751	S199R	possibly damaging	Het
Ano1	A	G	7: 144,611,625	L621P	probably damaging	Het
Calcr	C	T	6: 3,691,564	V404M	probably damaging	Het
Carmil3	A	G	14: 55,498,882	S635G	possibly damaging	Het
Ccl12	C	A	11: 82,102,621	S28R	possibly damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cdhr3	T	C	12: 33,038,901	N761D	probably benign	Het
Col14a1	T	C	15: 55,344,961		probably null	Het
Col28a1	T	C	6: 8,014,819	K862R	possibly damaging	Het
Cyp2c66	C	T	19: 39,186,640		probably benign	Het
D5Ertd615e	T	C	5: 45,163,416		noncoding transcript	Het
Deup1	T	C	9: 15,575,283	E367G	probably damaging	Het
Dpp8	T	G	9: 65,078,776	Y849*	probably null	Het
Efhc1	T	A	1: 20,972,964	V369E	probably damaging	Het
Epg5	A	G	18: 78,033,073	Y2562C	probably damaging	Het
Fam189a1	T	A	7: 64,786,731	M101L	possibly damaging	Het
Fbln5	A	G	12: 101,761,800		probably null	Het
Frem1	A	T	4: 83,000,055	M551K	probably damaging	Het
Gba2	T	C	4: 43,567,281	S889G	probably benign	Het
Golph3	C	T	15: 12,349,421	R176*	probably null	Het
Got2	A	T	8: 95,872,201	F191Y	probably benign	Het
Gtf2ird2	G	T	5: 134,213,048		probably benign	Het
Hist4h4	G	A	6: 136,804,274	R36W	probably damaging	Het
Hivep3	A	G	4: 120,133,956	T2218A	probably damaging	Het
Htr1f	C	T	16: 64,926,248	G227D	probably benign	Het
Ifi202b	C	T	1: 173,963,804	S436N	possibly damaging	Het
Nf1	T	A	11: 79,547,143	V2109D	probably damaging	Het
Opa1	C	A	16: 29,588,286	D29E	probably benign	Het
Papln	C	T	12: 83,778,837	P631S	probably benign	Het
Pde4c	T	A	8: 70,747,921	M352K	probably benign	Het
Pigu	T	C	2: 155,331,192	T129A	possibly damaging	Het
Pla2g4c	T	A	7: 13,346,040	H424Q	probably damaging	Het
Ptpn13	T	G	5: 103,562,291	L1564R	probably damaging	Het
Rbm5	T	C	9: 107,744,274	D642G	probably damaging	Het
Rnf111	T	C	9: 70,459,005	T384A	probably damaging	Het
Scn11a	T	C	9: 119,804,489	T393A	probably damaging	Het
Sned1	A	T	1: 93,274,347	K619M	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Syt9	A	G	7: 107,436,661	Y295C	probably damaging	Het
Taar7f	T	A	10: 24,050,425	Y306N	probably damaging	Het
Tmem107	T	G	11: 69,071,019	L25V	possibly damaging	Het
Wdr24	T	G	17: 25,824,348	I48S	probably damaging	Het
Zc3hc1	T	C	6: 30,374,849	D231G	probably benign	Het
Zfp142	T	A	1: 74,578,147	S342C	possibly damaging	Het
Zfp142	T	G	1: 74,578,149	K341T	possibly damaging	Het
Zfp142	T	C	1: 74,578,150	K341E	possibly damaging	Het
Zfp804b	T	A	5: 6,769,989	I989L	probably benign	Het

Other mutations in Zfyve9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Zfyve9	APN	4	108642107	missense	possibly damaging	0.85
IGL01161:Zfyve9	APN	4	108681064	missense	probably damaging	1.00
IGL01404:Zfyve9	APN	4	108682151	missense	probably damaging	1.00
IGL01451:Zfyve9	APN	4	108682260	missense	probably damaging	0.98
IGL01655:Zfyve9	APN	4	108642092	missense	probably damaging	1.00
IGL02593:Zfyve9	APN	4	108682223	missense	possibly damaging	0.73
IGL03169:Zfyve9	APN	4	108695825	missense	probably damaging	1.00
IGL03206:Zfyve9	APN	4	108689209	missense	possibly damaging	0.88
IGL03288:Zfyve9	APN	4	108723799	splice site	probably benign
R0008:Zfyve9	UTSW	4	108718705	missense	possibly damaging	0.92
R0008:Zfyve9	UTSW	4	108718705	missense	possibly damaging	0.92
R0104:Zfyve9	UTSW	4	108718163	missense	probably damaging	1.00
R0104:Zfyve9	UTSW	4	108718163	missense	probably damaging	1.00
R0362:Zfyve9	UTSW	4	108680969	missense	probably damaging	0.96
R0502:Zfyve9	UTSW	4	108719764	nonsense	probably null
R0503:Zfyve9	UTSW	4	108719764	nonsense	probably null
R0557:Zfyve9	UTSW	4	108674511	missense	probably damaging	0.98
R0835:Zfyve9	UTSW	4	108718669	missense	probably damaging	0.99
R1215:Zfyve9	UTSW	4	108650229	missense	probably benign	0.32
R1245:Zfyve9	UTSW	4	108693311	intron	probably benign
R1527:Zfyve9	UTSW	4	108695767	critical splice donor site	probably null
R1638:Zfyve9	UTSW	4	108684907	critical splice donor site	probably null
R1653:Zfyve9	UTSW	4	108660577	nonsense	probably null
R1728:Zfyve9	UTSW	4	108718501	missense	possibly damaging	0.80
R1729:Zfyve9	UTSW	4	108718501	missense	possibly damaging	0.80
R1861:Zfyve9	UTSW	4	108682295	splice site	probably benign
R1983:Zfyve9	UTSW	4	108689189	missense	possibly damaging	0.94
R2050:Zfyve9	UTSW	4	108718603	missense	probably benign	0.05
R2050:Zfyve9	UTSW	4	108719303	missense	possibly damaging	0.94
R2246:Zfyve9	UTSW	4	108689264	missense	possibly damaging	0.70
R2338:Zfyve9	UTSW	4	108660614	missense	probably damaging	1.00
R2697:Zfyve9	UTSW	4	108695819	missense	probably damaging	0.99
R3522:Zfyve9	UTSW	4	108719743	missense	probably benign	0.45
R4030:Zfyve9	UTSW	4	108719701	missense	possibly damaging	0.61
R4247:Zfyve9	UTSW	4	108719192	missense	probably benign	0.28
R4273:Zfyve9	UTSW	4	108680976	missense	probably damaging	1.00
R4720:Zfyve9	UTSW	4	108644368	missense	possibly damaging	0.94
R4835:Zfyve9	UTSW	4	108717998	missense	possibly damaging	0.70
R4871:Zfyve9	UTSW	4	108680986	missense	probably damaging	1.00
R4881:Zfyve9	UTSW	4	108727491	splice site	probably null
R4974:Zfyve9	UTSW	4	108680900	critical splice donor site	probably null
R5024:Zfyve9	UTSW	4	108691669	missense	probably benign	0.18
R5481:Zfyve9	UTSW	4	108644349	missense	probably damaging	1.00
R5660:Zfyve9	UTSW	4	108719168	missense	probably benign
R5965:Zfyve9	UTSW	4	108691681	missense	possibly damaging	0.53
R5996:Zfyve9	UTSW	4	108719360	missense	probably benign	0.07
R6315:Zfyve9	UTSW	4	108674488	missense	probably damaging	1.00
R6772:Zfyve9	UTSW	4	108639269	missense	probably damaging	1.00
R6865:Zfyve9	UTSW	4	108644361	missense	possibly damaging	0.71
R7112:Zfyve9	UTSW	4	108650322	missense	probably benign	0.00
R7258:Zfyve9	UTSW	4	108656954	missense	possibly damaging	0.94
R7266:Zfyve9	UTSW	4	108718547	missense	possibly damaging	0.62
R7287:Zfyve9	UTSW	4	108718256	missense	probably benign	0.00
R7356:Zfyve9	UTSW	4	108719015	missense	probably benign	0.01
R7389:Zfyve9	UTSW	4	108693318	critical splice donor site	probably null
R7729:Zfyve9	UTSW	4	108691776	missense	probably benign	0.01
R7780:Zfyve9	UTSW	4	108719101	missense	possibly damaging	0.81
R7801:Zfyve9	UTSW	4	108684995	missense	possibly damaging	0.50
R8069:Zfyve9	UTSW	4	108685018	missense	probably benign	0.32
R8201:Zfyve9	UTSW	4	108650277	missense	possibly damaging	0.83
R8221:Zfyve9	UTSW	4	108719680	missense	possibly damaging	0.77
R8682:Zfyve9	UTSW	4	108719342	missense	probably benign	0.30
R8948:Zfyve9	UTSW	4	108642091	missense	possibly damaging	0.84
R8960:Zfyve9	UTSW	4	108644361	missense	possibly damaging	0.71
R9123:Zfyve9	UTSW	4	108718563	missense	probably benign	0.30
R9135:Zfyve9	UTSW	4	108682189	nonsense	probably null
R9439:Zfyve9	UTSW	4	108644341	missense	probably benign	0.33
Z1176:Zfyve9	UTSW	4	108642207	missense	possibly damaging	0.85

Posted On

2015-04-16