Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03169:Zfyve9'

411770

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

Essential gene?

Possibly non essential (E-score: 0.456) question?

Stock #

IGL03169

Quality Score

Status

Chromosome

Chromosomal Location

108637466-108780798 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108695825 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 713 (Y713C)

Ref Sequence

ENSEMBL: ENSMUSP00000102269 (fasta)

Gene Model

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

AlphaFold

A2A8R0

Predicted Effect

probably damaging
Transcript: ENSMUST00000042185
AA Change: Y22C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039852
Gene: ENSMUSG00000034557
AA Change: Y22C

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: Y713C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102268
Gene: ENSMUSG00000034557
AA Change: Y713C

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

probably damaging
Transcript: ENSMUST00000106658
AA Change: Y713C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102269
Gene: ENSMUSG00000034557
AA Change: Y713C

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	A	T	8: 83,931,995	I548F	probably damaging	Het
Adgrv1	T	A	13: 81,503,900	Q2995L	probably damaging	Het
Capn9	T	C	8: 124,605,877	I485T	probably damaging	Het
Ccdc17	T	A	4: 116,597,760	I197N	probably damaging	Het
Chl1	T	A	6: 103,665,967	L222Q	probably damaging	Het
Ctla4	T	C	1: 60,914,605		probably benign	Het
Cyp2d12	T	C	15: 82,559,291	S485P	probably benign	Het
Ddx50	A	T	10: 62,621,387		probably null	Het
Dlgap4	C	A	2: 156,711,018		probably null	Het
Dpysl4	G	A	7: 139,099,910		probably null	Het
Erbin	T	C	13: 103,841,232	M606V	possibly damaging	Het
Fat4	T	G	3: 38,957,398	S2216A	probably benign	Het
Frem2	T	C	3: 53,522,292	N2779S	probably benign	Het
Fut1	T	C	7: 45,619,033	V82A	probably benign	Het
Gnb1l	C	T	16: 18,540,455	A2V	probably damaging	Het
Hdac1	C	T	4: 129,518,831	E327K	probably null	Het
Hdlbp	A	G	1: 93,416,587	V819A	possibly damaging	Het
Ift122	T	C	6: 115,905,961		probably benign	Het
Iqgap2	T	C	13: 95,731,277		probably null	Het
Kntc1	T	C	5: 123,775,821	V613A	possibly damaging	Het
Lamb1	T	C	12: 31,323,646	V1458A	probably damaging	Het
Lef1	A	G	3: 131,194,663	K265R	probably damaging	Het
Lrp2	T	C	2: 69,523,194	D574G	probably damaging	Het
Mterf2	C	T	10: 85,120,460	R100H	probably benign	Het
Nr1d2	C	T	14: 18,216,703	R155Q	probably damaging	Het
Obscn	T	C	11: 59,073,296	T3304A	probably damaging	Het
Olfr1251	A	G	2: 89,667,487	I133T	possibly damaging	Het
Olfr137	G	T	17: 38,305,101	S120Y	probably damaging	Het
Os9	G	A	10: 127,098,594	T391M	probably benign	Het
Parp6	C	A	9: 59,650,017	Y131*	probably null	Het
Plxdc1	T	C	11: 97,932,320	E358G	possibly damaging	Het
Ppef2	C	T	5: 92,235,900	W450*	probably null	Het
Ptprc	A	T	1: 138,113,619	S167R	probably benign	Het
Rad54l2	T	C	9: 106,719,064	D225G	probably benign	Het
Rgs7	T	C	1: 175,270,835	I53V	possibly damaging	Het
Rpa1	T	C	11: 75,301,357	D607G	probably damaging	Het
Shisa5	T	A	9: 109,056,492	H213Q	probably damaging	Het
Syncrip	A	G	9: 88,456,443		probably benign	Het
Taf4b	T	G	18: 14,821,535	V556G	probably damaging	Het
Tgif1	A	C	17: 70,844,841	S258R	possibly damaging	Het
Tmem106a	T	C	11: 101,590,458		probably benign	Het
Vmn1r113	A	T	7: 20,788,087	H268L	probably benign	Het
Vmn1r40	A	T	6: 89,715,023	Q274L	probably damaging	Het
Wdr70	A	C	15: 7,884,340	I609M	possibly damaging	Het
Wdr91	G	A	6: 34,905,491	S241L	possibly damaging	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
IGL02567:Zfyve9	APN	4	108674523	missense	probably damaging	1.00
IGL02593:Zfyve9	APN	4	108682223	missense	possibly damaging	0.73
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
R9449:Zfyve9	UTSW	4	108719238	missense	probably damaging	1.00
R9560:Zfyve9	UTSW	4	108718137	missense	possibly damaging	0.82
R9603:Zfyve9	UTSW	4	108642091	missense	possibly damaging	0.84
R9657:Zfyve9	UTSW	4	108718532	missense	probably damaging	1.00
R9691:Zfyve9	UTSW	4	108719108	missense	probably benign
R9717:Zfyve9	UTSW	4	108682137	missense	probably benign	0.11
Z1176:Zfyve9	UTSW	4	108642207	missense	possibly damaging	0.85

Posted On

2016-08-02