Mutagenetix > Incidental Mutation

Incidental Mutation 'R6772:Zfyve9'

532195

Institutional Source

Beutler Lab

Gene Symbol

Zfyve9

Ensembl Gene

ENSMUSG00000034557

Gene Name

zinc finger, FYVE domain containing 9

Synonyms

Madhip

MMRRC Submission

044888-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.431) question?

Stock #

R6772 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108494663-108637995 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108496466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1395 (N1395S)

Ref Sequence

ENSEMBL: ENSMUSP00000102268 (fasta)

Gene Model

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

AlphaFold

A2A8R0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042185
AA Change: N704S

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039852
Gene: ENSMUSG00000034557
AA Change: N704S

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: N1395S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102268
Gene: ENSMUSG00000034557
AA Change: N1395S

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: N1336S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102269
Gene: ENSMUSG00000034557
AA Change: N1336S

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

Meta Mutation Damage Score

0.1103

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.7%

Validation Efficiency

97% (36/37)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,126,276 (GRCm39)	D1144V	probably damaging	Het
Ankrd13a	A	G	5: 114,939,804 (GRCm39)	H477R	probably benign	Het
Anxa3	A	T	5: 96,958,972 (GRCm39)	I27F	probably damaging	Het
Aplf	T	C	6: 87,640,781 (GRCm39)	E76G	possibly damaging	Het
Bbs1	A	G	19: 4,956,618 (GRCm39)		probably benign	Het
Camk2a	T	C	18: 61,102,092 (GRCm39)	S332P	probably benign	Het
Casz1	T	A	4: 149,027,663 (GRCm39)	F1013L	probably damaging	Het
Cd109	A	T	9: 78,588,092 (GRCm39)	I707F	possibly damaging	Het
Cd4	G	A	6: 124,849,421 (GRCm39)	T202I	probably benign	Het
Celsr1	A	G	15: 85,914,983 (GRCm39)	S997P	probably benign	Het
Cfap77	T	C	2: 28,944,951 (GRCm39)	T24A	probably damaging	Het
Dscaml1	G	A	9: 45,621,609 (GRCm39)	R1019H	probably damaging	Het
Epb41l4b	C	A	4: 57,063,140 (GRCm39)	V517F	probably benign	Het
Exosc10	G	A	4: 148,665,591 (GRCm39)	D818N	probably damaging	Het
Furin	C	T	7: 80,043,240 (GRCm39)	G324S	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ifi206	T	C	1: 173,308,773 (GRCm39)	M408V	unknown	Het
Kdm4a	T	C	4: 117,999,752 (GRCm39)		probably null	Het
Neo1	T	A	9: 58,810,259 (GRCm39)	Q1064L	probably damaging	Het
Nphp4	G	A	4: 152,628,863 (GRCm39)	V750I	probably benign	Het
Pcdhac1	T	C	18: 37,223,289 (GRCm39)	V34A	probably benign	Het
Pdk4	T	C	6: 5,487,141 (GRCm39)	I302V	probably benign	Het
Prl6a1	A	G	13: 27,503,031 (GRCm39)	D209G	probably damaging	Het
Pspn	T	C	17: 57,306,515 (GRCm39)	Q138R	probably benign	Het
Ptgs2	A	G	1: 149,977,829 (GRCm39)	Y134C	probably damaging	Het
Rlbp1	G	A	7: 79,033,798 (GRCm39)		probably benign	Het
Rpia	T	C	6: 70,762,532 (GRCm39)	I108V	probably benign	Het
Tcaf1	A	T	6: 42,652,210 (GRCm39)	H757Q	probably damaging	Het
Ttc8	A	C	12: 98,909,848 (GRCm39)	S143R	probably damaging	Het
Uba6	A	G	5: 86,294,932 (GRCm39)		probably benign	Het
Ubr4	A	T	4: 139,194,541 (GRCm39)	K4280*	probably null	Het
Vmn2r15	C	A	5: 109,434,238 (GRCm39)	S822I	probably damaging	Het
Vps53	A	T	11: 76,070,324 (GRCm39)	M1K	probably null	Het
Zfp362	A	G	4: 128,684,053 (GRCm39)	M18T	possibly damaging	Het
Zfp429	A	G	13: 67,538,317 (GRCm39)	C376R	probably damaging	Het
Zmynd8	T	A	2: 165,649,521 (GRCm39)	Q857H	probably benign	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
R1245:Zfyve9	UTSW	4	108,550,508 (GRCm39)	intron	probably benign
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
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'- TGGAACATCTGTCCCCTACCAC -3'
(R):5'- TGTTGGGCTCATGGCAAAGG -3'

Sequencing Primer
(F):5'- ATCTGTCCCCTACCACCCTCC -3'
(R):5'- GTTCAGCCCTCTGCAGAGATC -3'

Posted On

2018-08-29