Mutagenetix > Incidental Mutation

Incidental Mutation 'R2246:Zfyve9'

240848

Institutional Source

Beutler Lab

Gene Symbol

Zfyve9

Ensembl Gene

ENSMUSG00000034557

Gene Name

zinc finger, FYVE domain containing 9

Synonyms

Madhip

MMRRC Submission

040246-MU

Accession Numbers

Essential gene?

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

Stock #

R2246 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108494663-108637995 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108546461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 790 (D790E)

Ref Sequence

ENSEMBL: ENSMUSP00000102269 (fasta)

Gene Model

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

AlphaFold

A2A8R0

Predicted Effect

probably benign
Transcript: ENSMUST00000042185
AA Change: D158E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039852
Gene: ENSMUSG00000034557
AA Change: D158E

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: D849E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000102268
Gene: ENSMUSG00000034557
AA Change: D849E

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: D790E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102269
Gene: ENSMUSG00000034557
AA Change: D790E

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	T	G	6: 85,599,949 (GRCm39)	S1592A	possibly damaging	Het
Anapc16	G	T	10: 59,832,298 (GRCm39)	Y38*	probably null	Het
Clec7a	T	A	6: 129,444,532 (GRCm39)	H101L	probably benign	Het
Cwf19l2	A	G	9: 3,430,661 (GRCm39)	D331G	probably benign	Het
Dcaf1	A	G	9: 106,731,376 (GRCm39)	T618A	possibly damaging	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Fn1	A	T	1: 71,667,694 (GRCm39)	D766E	probably benign	Het
Ggta1	T	C	2: 35,292,121 (GRCm39)	*395W	probably null	Het
Grik2	C	T	10: 49,411,532 (GRCm39)	R202H	probably damaging	Het
Hcls1	G	T	16: 36,782,984 (GRCm39)	S445I	probably damaging	Het
Hip1	A	C	5: 135,481,698 (GRCm39)	S166R	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Igsf9	T	A	1: 172,319,216 (GRCm39)	S236R	probably benign	Het
Knl1	C	T	2: 118,902,708 (GRCm39)	P1470S	probably damaging	Het
Ldb3	A	T	14: 34,251,432 (GRCm39)	H675Q	probably damaging	Het
Or10ab4	C	T	7: 107,654,989 (GRCm39)	R267C	probably benign	Het
Or10ag57	T	A	2: 87,218,195 (GRCm39)	S49T	probably benign	Het
Or6c3b	A	G	10: 129,527,812 (GRCm39)	Y33H	probably damaging	Het
Palld	T	C	8: 62,330,169 (GRCm39)	D236G	probably benign	Het
Pank3	A	G	11: 35,674,333 (GRCm39)	K332R	probably benign	Het
Phaf1	T	A	8: 105,973,132 (GRCm39)	D247E	possibly damaging	Het
Pramel11	A	G	4: 143,623,790 (GRCm39)	V128A	probably benign	Het
Prrc2c	A	G	1: 162,535,360 (GRCm39)		probably benign	Het
Ror2	C	T	13: 53,265,638 (GRCm39)	G473S	probably damaging	Het
Shisal1	T	A	15: 84,301,400 (GRCm39)	H81L	probably damaging	Het
Slc15a2	A	T	16: 36,582,723 (GRCm39)	Y222N	probably damaging	Het
Slc38a7	A	T	8: 96,570,468 (GRCm39)	M269K	probably damaging	Het
Srrd	A	T	5: 112,487,622 (GRCm39)	L159H	probably damaging	Het
Tap2	C	A	17: 34,427,775 (GRCm39)	S218Y	possibly damaging	Het
Tex15	G	A	8: 34,072,540 (GRCm39)	V2696I	possibly damaging	Het
Tmem67	G	A	4: 12,040,651 (GRCm39)	T1030I	probably damaging	Het
Traf5	T	C	1: 191,751,190 (GRCm39)		probably null	Het
Try4	C	T	6: 41,282,406 (GRCm39)	T242I	possibly damaging	Het
Ubqln3	C	T	7: 103,791,518 (GRCm39)	V191I	probably damaging	Het
Vmn2r67	T	C	7: 84,785,764 (GRCm39)	Y747C	probably damaging	Het
Wipf3	C	T	6: 54,466,058 (GRCm39)	P439S	probably damaging	Het
Zbed5	A	T	5: 129,931,592 (GRCm39)	M514L	probably benign	Het
Zfp592	A	G	7: 80,691,361 (GRCm39)	D1180G	possibly damaging	Het
Zkscan16	A	G	4: 58,957,329 (GRCm39)	K537R	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
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'- ATCCTTTCCTTAAGCAGAAGGC -3'
(R):5'- ACGTTTGTACCTCTAAAGTTTCCAG -3'

Sequencing Primer
(F):5'- GGCAATGTGTGGTATGCATTAACTAC -3'
(R):5'- CCTGGGCTAGAGATCCTATCTAAG -3'

Posted On

2014-10-15