Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01655:Zfyve9'

102977

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 essential (E-score: 0.611) question?

Stock #

IGL01655

Quality Score

Status

Chromosome

Chromosomal Location

108637466-108780798 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108642092 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1343 (D1343G)

Ref Sequence

ENSEMBL: ENSMUSP00000102268 (fasta)

Gene Model

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

AlphaFold

A2A8R0

Predicted Effect

probably benign
Transcript: ENSMUST00000042185
AA Change: D652G

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000039852
Gene: ENSMUSG00000034557
AA Change: D652G

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: D1343G

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

SMART Domains

Protein: ENSMUSP00000102268
Gene: ENSMUSG00000034557
AA Change: D1343G

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: D1284G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102269
Gene: ENSMUSG00000034557
AA Change: D1284G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170933

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	G	A	3: 97,165,972		probably null	Het
Aida	T	A	1: 183,313,683	Y104*	probably null	Het
Cd300lg	T	C	11: 102,047,075	S244P	probably benign	Het
Ces4a	T	A	8: 105,147,174	L425Q	probably damaging	Het
Chrnb3	T	C	8: 27,394,174	V298A	probably damaging	Het
Cnot6	A	C	11: 49,677,304	F486C	probably damaging	Het
Ctnna3	A	G	10: 64,873,170	T663A	probably benign	Het
Cyp2j12	T	A	4: 96,115,577	K267N	possibly damaging	Het
Dclre1a	A	T	19: 56,547,057	Y32N	probably damaging	Het
Ddx21	A	G	10: 62,587,491	I644T	probably damaging	Het
Epha6	A	C	16: 59,839,303	N817K	probably benign	Het
Ercc6l2	T	A	13: 63,819,752	Y55*	probably null	Het
Esyt1	A	G	10: 128,522,312	I183T	possibly damaging	Het
Exoc8	T	C	8: 124,896,228	T467A	probably benign	Het
Fance	T	C	17: 28,322,779		probably benign	Het
Fbxo46	C	T	7: 19,136,310	R285W	probably damaging	Het
Ffar2	A	T	7: 30,819,587	V176E	probably damaging	Het
Fnbp1l	T	C	3: 122,568,749		probably null	Het
Gm10288	T	C	3: 146,838,810		noncoding transcript	Het
Gm12588	T	A	11: 121,907,951			Het
Gm9755	G	A	8: 67,515,233		noncoding transcript	Het
Gpr33	A	T	12: 52,023,560	M232K	probably damaging	Het
Haus5	A	T	7: 30,663,294		probably benign	Het
Ilvbl	A	G	10: 78,577,333		probably benign	Het
Kifap3	G	A	1: 163,796,049		probably benign	Het
Klhl26	T	C	8: 70,451,883	Y378C	probably damaging	Het
Lama4	G	A	10: 39,060,213	S628N	probably benign	Het
Lamc3	G	A	2: 31,898,278	R150H	probably damaging	Het
Mrgprx2	A	T	7: 48,482,691	C126*	probably null	Het
Myo3a	A	T	2: 22,423,326	D798V	probably damaging	Het
Ndufs1	A	T	1: 63,151,557	L44Q	probably damaging	Het
Nfrkb	G	T	9: 31,403,459	R525L	probably benign	Het
Olfr1124	T	A	2: 87,434,885	C133S	probably damaging	Het
Olfr1134	A	G	2: 87,656,429	F164S	probably damaging	Het
Olfr1287	T	C	2: 111,449,889	F250L	probably benign	Het
Olfr1370	T	C	13: 21,072,905	Y132C	probably damaging	Het
Olfr146	T	A	9: 39,018,918	I208F	probably benign	Het
Olfr394	T	C	11: 73,887,927	I148M	probably benign	Het
Olfr458	T	C	6: 42,460,540	T160A	probably benign	Het
Olfr735	A	G	14: 50,346,184	M86T	probably benign	Het
Olfr824	G	T	10: 130,126,991	T22K	probably benign	Het
Pias4	T	C	10: 81,155,658	K352E	probably benign	Het
Pkhd1	G	A	1: 20,534,633	Q1153*	probably null	Het
Pon1	C	A	6: 5,175,760	W254C	probably damaging	Het
Prr14	A	G	7: 127,475,767	T447A	probably benign	Het
Serpinb9g	T	A	13: 33,495,105	C319*	probably null	Het
Slc9c1	A	T	16: 45,582,972	M801L	probably benign	Het
Tenm4	C	T	7: 96,553,724	T182M	probably damaging	Het
Ubr4	T	A	4: 139,407,796	L813Q	probably damaging	Het
Uimc1	T	C	13: 55,028,704	E667G	probably benign	Het
Unc79	A	G	12: 103,168,287	T2173A	probably benign	Het
Unkl	T	C	17: 25,210,848	S142P	probably benign	Het
Vezt	A	G	10: 93,996,997	V204A	probably benign	Het
Vps53	A	T	11: 76,063,034	I402N	probably 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
IGL02567:Zfyve9	APN	4	108674523	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
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

2014-01-21