Mutagenetix > Incidental Mutation

Incidental Mutation 'R1245:Zfyve9'

152120

Institutional Source

Beutler Lab

Gene Symbol

Zfyve9

Ensembl Gene

ENSMUSG00000034557

Gene Name

zinc finger, FYVE domain containing 9

Synonyms

Madhip

MMRRC Submission

039312-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.399) question?

Stock #

R1245 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108494663-108637995 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 108550508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102269 (fasta)

Gene Model

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

AlphaFold

A2A8R0

Predicted Effect

probably benign
Transcript: ENSMUST00000042185

SMART Domains

Protein: ENSMUSP00000039852
Gene: ENSMUSG00000034557

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 benign
Transcript: ENSMUST00000106657

SMART Domains

Protein: ENSMUSP00000102268
Gene: ENSMUSG00000034557

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 benign
Transcript: ENSMUST00000106658

SMART Domains

Protein: ENSMUSP00000102269
Gene: ENSMUSG00000034557

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

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

98% (41/42)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	T	A	11: 7,119,410 (GRCm39)		probably benign	Het
Ahnak	A	G	19: 8,981,533 (GRCm39)	N939S	probably benign	Het
Cblb	C	A	16: 51,867,550 (GRCm39)		probably benign	Het
Cd22	A	G	7: 30,569,308 (GRCm39)	S603P	probably damaging	Het
Col6a6	G	A	9: 105,626,109 (GRCm39)	R1515C	possibly damaging	Het
Csf1r	C	A	18: 61,247,884 (GRCm39)	D317E	probably benign	Het
Dlg2	T	C	7: 92,091,803 (GRCm39)		probably benign	Het
Enpp3	G	A	10: 24,660,851 (GRCm39)		probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gm5828	A	T	1: 16,839,353 (GRCm39)		noncoding transcript	Het
Gpr137c	T	C	14: 45,516,522 (GRCm39)		probably benign	Het
Ibtk	A	G	9: 85,602,795 (GRCm39)		probably null	Het
Kctd7	A	G	5: 130,177,058 (GRCm39)	H96R	possibly damaging	Het
Lmcd1	T	A	6: 112,292,673 (GRCm39)	V175E	probably benign	Het
Lrfn2	A	T	17: 49,403,277 (GRCm39)		probably null	Het
Ltbp1	C	T	17: 75,634,189 (GRCm39)		probably benign	Het
Myc	A	G	15: 61,859,746 (GRCm39)	I140V	probably damaging	Het
Nckap1l	A	G	15: 103,364,352 (GRCm39)	E100G	probably damaging	Het
Ncs1	A	G	2: 31,174,705 (GRCm39)	N143S	probably benign	Het
Nmnat2	A	G	1: 152,987,949 (GRCm39)	D238G	probably benign	Het
Or10ag57	T	A	2: 87,218,553 (GRCm39)	V168E	probably benign	Het
Ppp2r3d	G	A	9: 101,071,593 (GRCm39)	T675I	probably damaging	Het
Psma2	A	G	13: 14,787,876 (GRCm39)	Y6C	probably damaging	Het
Rspo4	G	A	2: 151,709,846 (GRCm39)	E84K	probably damaging	Het
Shank2	G	A	7: 143,965,457 (GRCm39)	V1015I	probably benign	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Smg8	T	C	11: 86,974,436 (GRCm39)	D632G	possibly damaging	Het
Sppl2a	A	T	2: 126,755,441 (GRCm39)		probably benign	Het
Svep1	A	G	4: 58,066,427 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,776,044 (GRCm39)	K1666M	probably damaging	Het
Ulk1	A	G	5: 110,937,206 (GRCm39)		probably null	Het
Unc80	A	G	1: 66,594,254 (GRCm39)	D1211G	possibly damaging	Het
Vmn2r112	A	G	17: 22,822,228 (GRCm39)	Q302R	probably benign	Het
Vmn2r6	A	G	3: 64,464,211 (GRCm39)	S208P	possibly damaging	Het
Wnk1	C	T	6: 119,925,418 (GRCm39)	V1847I	probably benign	Het
Zfp653	A	T	9: 21,967,718 (GRCm39)	I529N	probably damaging	Het
Zfp948	T	C	17: 21,807,104 (GRCm39)	S99P	probably damaging	Het
Zscan29	T	C	2: 120,996,984 (GRCm39)	T246A	probably damaging	Het

Other mutations in Zfyve9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Zfyve9	APN	4	108,499,304 (GRCm39)	missense	possibly damaging	0.85
IGL01161:Zfyve9	APN	4	108,538,261 (GRCm39)	missense	probably damaging	1.00
IGL01404:Zfyve9	APN	4	108,539,348 (GRCm39)	missense	probably damaging	1.00
IGL01451:Zfyve9	APN	4	108,539,457 (GRCm39)	missense	probably damaging	0.98
IGL01655:Zfyve9	APN	4	108,499,289 (GRCm39)	missense	probably damaging	1.00
IGL02567:Zfyve9	APN	4	108,531,720 (GRCm39)	missense	probably damaging	1.00
IGL02593:Zfyve9	APN	4	108,539,420 (GRCm39)	missense	possibly damaging	0.73
IGL03169:Zfyve9	APN	4	108,553,022 (GRCm39)	missense	probably damaging	1.00
IGL03206:Zfyve9	APN	4	108,546,406 (GRCm39)	missense	possibly damaging	0.88
IGL03288:Zfyve9	APN	4	108,580,996 (GRCm39)	splice site	probably benign
R0008:Zfyve9	UTSW	4	108,575,902 (GRCm39)	missense	possibly damaging	0.92
R0008:Zfyve9	UTSW	4	108,575,902 (GRCm39)	missense	possibly damaging	0.92
R0104:Zfyve9	UTSW	4	108,575,360 (GRCm39)	missense	probably damaging	1.00
R0104:Zfyve9	UTSW	4	108,575,360 (GRCm39)	missense	probably damaging	1.00
R0362:Zfyve9	UTSW	4	108,538,166 (GRCm39)	missense	probably damaging	0.96
R0502:Zfyve9	UTSW	4	108,576,961 (GRCm39)	nonsense	probably null
R0503:Zfyve9	UTSW	4	108,576,961 (GRCm39)	nonsense	probably null
R0557:Zfyve9	UTSW	4	108,531,708 (GRCm39)	missense	probably damaging	0.98
R0835:Zfyve9	UTSW	4	108,575,866 (GRCm39)	missense	probably damaging	0.99
R1215:Zfyve9	UTSW	4	108,507,426 (GRCm39)	missense	probably benign	0.32
R1527:Zfyve9	UTSW	4	108,552,964 (GRCm39)	critical splice donor site	probably null
R1638:Zfyve9	UTSW	4	108,542,104 (GRCm39)	critical splice donor site	probably null
R1653:Zfyve9	UTSW	4	108,517,774 (GRCm39)	nonsense	probably null
R1728:Zfyve9	UTSW	4	108,575,698 (GRCm39)	missense	possibly damaging	0.80
R1729:Zfyve9	UTSW	4	108,575,698 (GRCm39)	missense	possibly damaging	0.80
R1861:Zfyve9	UTSW	4	108,539,492 (GRCm39)	splice site	probably benign
R1983:Zfyve9	UTSW	4	108,546,386 (GRCm39)	missense	possibly damaging	0.94
R2050:Zfyve9	UTSW	4	108,576,500 (GRCm39)	missense	possibly damaging	0.94
R2050:Zfyve9	UTSW	4	108,575,800 (GRCm39)	missense	probably benign	0.05
R2246:Zfyve9	UTSW	4	108,546,461 (GRCm39)	missense	possibly damaging	0.70
R2338:Zfyve9	UTSW	4	108,517,811 (GRCm39)	missense	probably damaging	1.00
R2697:Zfyve9	UTSW	4	108,553,016 (GRCm39)	missense	probably damaging	0.99
R3522:Zfyve9	UTSW	4	108,576,940 (GRCm39)	missense	probably benign	0.45
R4030:Zfyve9	UTSW	4	108,576,898 (GRCm39)	missense	possibly damaging	0.61
R4247:Zfyve9	UTSW	4	108,576,389 (GRCm39)	missense	probably benign	0.28
R4273:Zfyve9	UTSW	4	108,538,173 (GRCm39)	missense	probably damaging	1.00
R4720:Zfyve9	UTSW	4	108,501,565 (GRCm39)	missense	possibly damaging	0.94
R4835:Zfyve9	UTSW	4	108,575,195 (GRCm39)	missense	possibly damaging	0.70
R4871:Zfyve9	UTSW	4	108,538,183 (GRCm39)	missense	probably damaging	1.00
R4881:Zfyve9	UTSW	4	108,584,688 (GRCm39)	splice site	probably null
R4974:Zfyve9	UTSW	4	108,538,097 (GRCm39)	critical splice donor site	probably null
R5024:Zfyve9	UTSW	4	108,548,866 (GRCm39)	missense	probably benign	0.18
R5481:Zfyve9	UTSW	4	108,501,546 (GRCm39)	missense	probably damaging	1.00
R5660:Zfyve9	UTSW	4	108,576,365 (GRCm39)	missense	probably benign
R5965:Zfyve9	UTSW	4	108,548,878 (GRCm39)	missense	possibly damaging	0.53
R5996:Zfyve9	UTSW	4	108,576,557 (GRCm39)	missense	probably benign	0.07
R6315:Zfyve9	UTSW	4	108,531,685 (GRCm39)	missense	probably damaging	1.00
R6772:Zfyve9	UTSW	4	108,496,466 (GRCm39)	missense	probably damaging	1.00
R6865:Zfyve9	UTSW	4	108,501,558 (GRCm39)	missense	possibly damaging	0.71
R7112:Zfyve9	UTSW	4	108,507,519 (GRCm39)	missense	probably benign	0.00
R7258:Zfyve9	UTSW	4	108,514,151 (GRCm39)	missense	possibly damaging	0.94
R7266:Zfyve9	UTSW	4	108,575,744 (GRCm39)	missense	possibly damaging	0.62
R7287:Zfyve9	UTSW	4	108,575,453 (GRCm39)	missense	probably benign	0.00
R7356:Zfyve9	UTSW	4	108,576,212 (GRCm39)	missense	probably benign	0.01
R7389:Zfyve9	UTSW	4	108,550,515 (GRCm39)	critical splice donor site	probably null
R7729:Zfyve9	UTSW	4	108,548,973 (GRCm39)	missense	probably benign	0.01
R7780:Zfyve9	UTSW	4	108,576,298 (GRCm39)	missense	possibly damaging	0.81
R7801:Zfyve9	UTSW	4	108,542,192 (GRCm39)	missense	possibly damaging	0.50
R8069:Zfyve9	UTSW	4	108,542,215 (GRCm39)	missense	probably benign	0.32
R8201:Zfyve9	UTSW	4	108,507,474 (GRCm39)	missense	possibly damaging	0.83
R8221:Zfyve9	UTSW	4	108,576,877 (GRCm39)	missense	possibly damaging	0.77
R8682:Zfyve9	UTSW	4	108,576,539 (GRCm39)	missense	probably benign	0.30
R8948:Zfyve9	UTSW	4	108,499,288 (GRCm39)	missense	possibly damaging	0.84
R8960:Zfyve9	UTSW	4	108,501,558 (GRCm39)	missense	possibly damaging	0.71
R9123:Zfyve9	UTSW	4	108,575,760 (GRCm39)	missense	probably benign	0.30
R9135:Zfyve9	UTSW	4	108,539,386 (GRCm39)	nonsense	probably null
R9439:Zfyve9	UTSW	4	108,501,538 (GRCm39)	missense	probably benign	0.33
R9449:Zfyve9	UTSW	4	108,576,435 (GRCm39)	missense	probably damaging	1.00
R9560:Zfyve9	UTSW	4	108,575,334 (GRCm39)	missense	possibly damaging	0.82
R9603:Zfyve9	UTSW	4	108,499,288 (GRCm39)	missense	possibly damaging	0.84
R9657:Zfyve9	UTSW	4	108,575,729 (GRCm39)	missense	probably damaging	1.00
R9691:Zfyve9	UTSW	4	108,576,305 (GRCm39)	missense	probably benign
R9717:Zfyve9	UTSW	4	108,539,334 (GRCm39)	missense	probably benign	0.11
Z1176:Zfyve9	UTSW	4	108,499,404 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- AGGATGGTTTCAAAGTCTACAACTCGC -3'
(R):5'- ATGATGAGTGCCTCAAGCCAGAGC -3'

Sequencing Primer
(F):5'- GTTTTCAGAGGTCCCTCCAAAATATC -3'
(R):5'- GAGCCCTAACCCTAACAATCCTG -3'

Posted On

2014-01-29