Mutagenetix > Incidental Mutation

Incidental Mutation 'R4247:Zfyve9'

320455

Institutional Source

Beutler Lab

Gene Symbol

Zfyve9

Ensembl Gene

ENSMUSG00000034557

Gene Name

zinc finger, FYVE domain containing 9

Synonyms

Madhip

MMRRC Submission

041063-MU

Accession Numbers

Essential gene?

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

Stock #

R4247 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108494663-108637995 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 108576389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 231 (A231S)

Ref Sequence

ENSEMBL: ENSMUSP00000102269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042185] [ENSMUST00000106657] [ENSMUST00000106658] [ENSMUST00000178992]

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
AA Change: A231S

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102268
Gene: ENSMUSG00000034557
AA Change: A231S

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
AA Change: A231S

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102269
Gene: ENSMUSG00000034557
AA Change: A231S

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

probably benign
Transcript: ENSMUST00000178992

SMART Domains

Protein: ENSMUSP00000136370
Gene: ENSMUSG00000094958

Domain	Start	End	E-Value	Type
low complexity region	54	74	N/A	INTRINSIC
low complexity region	87	102	N/A	INTRINSIC
low complexity region	114	148	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	C	5: 8,195,626 (GRCm39)	I305V	probably benign	Het
Aga	T	A	8: 53,964,865 (GRCm39)	L9Q	possibly damaging	Het
Akna	C	T	4: 63,313,409 (GRCm39)	G238D	probably benign	Het
Arhgap23	G	A	11: 97,354,525 (GRCm39)	E813K	probably damaging	Het
Atp13a2	T	C	4: 140,719,539 (GRCm39)		probably null	Het
Atp8a1	C	T	5: 67,824,917 (GRCm39)	G820S	probably damaging	Het
Ccdc97	T	G	7: 25,415,459 (GRCm39)	H68P	possibly damaging	Het
Dclre1b	A	C	3: 103,711,400 (GRCm39)		probably null	Het
Erap1	T	C	13: 74,823,414 (GRCm39)	I816T	probably damaging	Het
Fubp1	G	A	3: 151,937,573 (GRCm39)	A103T	possibly damaging	Het
Gnal	C	G	18: 67,221,654 (GRCm39)	P19R	unknown	Het
Gtf3c5	T	C	2: 28,461,196 (GRCm39)	D306G	probably damaging	Het
Hecw2	C	T	1: 53,871,804 (GRCm39)	V1381M	probably damaging	Het
Hsdl2	A	T	4: 59,594,417 (GRCm39)	N16I	probably damaging	Het
Kif14	G	T	1: 136,401,126 (GRCm39)	M492I	possibly damaging	Het
Kif27	A	G	13: 58,435,731 (GRCm39)	V1354A	probably damaging	Het
Kif9	G	T	9: 110,325,027 (GRCm39)		probably null	Het
Lmtk3	G	A	7: 45,443,486 (GRCm39)	C723Y	possibly damaging	Het
Lrrc24	A	G	15: 76,602,176 (GRCm39)	I193T	possibly damaging	Het
Or2bd2	A	G	7: 6,441,901 (GRCm39)		probably benign	Het
Or52b1	T	C	7: 104,979,355 (GRCm39)	I15V	probably benign	Het
Pkd1l1	C	T	11: 8,815,543 (GRCm39)	R1456K	possibly damaging	Het
Pramel52-ps	A	G	5: 94,531,446 (GRCm39)	D110G	possibly damaging	Het
Ranbp2	A	G	10: 58,314,686 (GRCm39)	D1802G	possibly damaging	Het
Resf1	T	A	6: 149,227,041 (GRCm39)	M29K	possibly damaging	Het
Satl1	A	G	X: 111,316,033 (GRCm39)	S141P	probably benign	Het
Scn11a	C	T	9: 119,636,952 (GRCm39)	V250M	probably damaging	Het
Slitrk1	A	G	14: 109,149,994 (GRCm39)	V239A	possibly damaging	Het
Slitrk6	T	A	14: 110,988,171 (GRCm39)	D512V	probably damaging	Het
Snx8	A	G	5: 140,341,800 (GRCm39)	L121P	probably damaging	Het
Sumf1	A	C	6: 108,131,974 (GRCm39)	V156G	probably damaging	Het
Tamalin	G	T	15: 101,122,418 (GRCm39)	R79L	possibly damaging	Het
Trp73	A	G	4: 154,149,089 (GRCm39)		probably null	Het
Tsen2	A	G	6: 115,524,785 (GRCm39)		probably benign	Het
Upp1	T	C	11: 9,084,815 (GRCm39)	I178T	probably benign	Het
Vmn2r73	A	T	7: 85,521,883 (GRCm39)	L152Q	probably damaging	Het
Vmn2r97	T	C	17: 19,167,542 (GRCm39)	S599P	possibly damaging	Het
Wrnip1	T	C	13: 32,990,866 (GRCm39)	L375P	probably damaging	Het
Zfp945	C	T	17: 23,069,583 (GRCm39)	G793D	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
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
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'- ATGCCAGAAAGATCCTCATCTG -3'
(R):5'- AGGACATTGCAAAGCGATTTG -3'

Sequencing Primer
(F):5'- AGATCCTCATCTGGCATATAATTTCC -3'
(R):5'- GCGATTTGCAGGATTGTAATAATTAC -3'

Posted On

2015-06-12