Mutagenetix > Incidental Mutation

Incidental Mutation 'R8201:Zfyve9'

635668

Institutional Source

Beutler Lab

Gene Symbol

Zfyve9

Ensembl Gene

ENSMUSG00000034557

Gene Name

zinc finger, FYVE domain containing 9

Synonyms

Madhip

MMRRC Submission

067624-MU

Accession Numbers

Essential gene?

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

Stock #

R8201 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108494663-108637995 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108507474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 528 (D528G)

Ref Sequence

ENSEMBL: ENSMUSP00000039852 (fasta)

Gene Model

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

AlphaFold

A2A8R0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042185
AA Change: D528G

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000039852
Gene: ENSMUSG00000034557
AA Change: D528G

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

possibly damaging
Transcript: ENSMUST00000106657
AA Change: D1219G

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102268
Gene: ENSMUSG00000034557
AA Change: D1219G

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 damaging
Transcript: ENSMUST00000106658
AA Change: D1160G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102269
Gene: ENSMUSG00000034557
AA Change: D1160G

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

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
1700006A11Rik	T	C	3: 124,195,046 (GRCm39)	E543G	probably benign	Het
2210408I21Rik	T	A	13: 77,341,278 (GRCm39)	N302K	possibly damaging	Het
Apbb2	T	C	5: 66,466,458 (GRCm39)	N609S	probably benign	Het
Atp10a	G	T	7: 58,469,424 (GRCm39)	G1092*	probably null	Het
Ccdc150	A	G	1: 54,368,646 (GRCm39)	N618S	probably benign	Het
Cct4	T	A	11: 22,949,115 (GRCm39)	V287E	probably damaging	Het
Cyp2j7	A	T	4: 96,083,564 (GRCm39)	I462N	probably damaging	Het
Dnajc6	C	T	4: 101,475,960 (GRCm39)	A611V	probably benign	Het
Dusp10	C	A	1: 183,769,202 (GRCm39)	A56E	possibly damaging	Het
Entrep3	T	C	3: 89,093,115 (GRCm39)	V291A	probably damaging	Het
Fat3	A	C	9: 15,908,773 (GRCm39)	C2410G	possibly damaging	Het
Fcgrt	T	A	7: 44,744,634 (GRCm39)	Q274L	possibly damaging	Het
Fdxacb1	G	T	9: 50,681,455 (GRCm39)		probably benign	Het
Fubp1	T	A	3: 151,927,823 (GRCm39)	I424N	probably damaging	Het
Gm5114	T	A	7: 39,060,373 (GRCm39)	T159S	probably damaging	Het
Gm7168	T	C	17: 14,170,042 (GRCm39)	C470R	probably benign	Het
Hebp1	A	G	6: 135,114,906 (GRCm39)	V185A	possibly damaging	Het
Il18rap	G	T	1: 40,578,429 (GRCm39)	R280I	possibly damaging	Het
Mamdc4	T	C	2: 25,456,093 (GRCm39)	N771S	probably damaging	Het
Ndufaf4	A	G	4: 24,898,197 (GRCm39)	N11D	possibly damaging	Het
Nkiras1	T	C	14: 18,276,908 (GRCm38)		probably benign	Het
Noct	T	C	3: 51,155,444 (GRCm39)	S135P	probably benign	Het
Or1e23	T	A	11: 73,407,899 (GRCm39)	N42I	probably damaging	Het
Or2t48	A	T	11: 58,419,865 (GRCm39)	*316R	noncoding transcript	Het
Or2w3b	A	C	11: 58,623,940 (GRCm39)	F17C	probably damaging	Het
Or7e177	G	T	9: 20,212,317 (GRCm39)	G271C	probably damaging	Het
Or7e178	T	C	9: 20,225,908 (GRCm39)	M103V	probably benign	Het
Pcdhac1	A	T	18: 37,223,892 (GRCm39)	H235L	probably benign	Het
Pcdhb22	G	T	18: 37,651,518 (GRCm39)		probably benign	Het
Pdlim1	A	T	19: 40,218,958 (GRCm39)	D224E	probably benign	Het
Plpp3	G	T	4: 105,076,555 (GRCm39)	G223W	probably damaging	Het
Rcan3	A	G	4: 135,147,684 (GRCm39)	F81S	probably damaging	Het
Sel1l2	A	C	2: 140,108,312 (GRCm39)	Y191D	probably damaging	Het
Supt16	A	G	14: 52,408,447 (GRCm39)	F833L	probably damaging	Het
Tchh	T	C	3: 93,350,781 (GRCm39)	F74L	probably damaging	Het
Tgfbr3	T	C	5: 107,278,431 (GRCm39)	D725G	probably benign	Het
Tmem14c	C	T	13: 41,171,186 (GRCm39)	P10S	probably benign	Het
Ubb	G	A	11: 62,443,053 (GRCm39)	A28T	probably benign	Het
Vars2	A	T	17: 35,969,202 (GRCm39)	V833E	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
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
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'- AGTCAACTCTGAAGCTGCG -3'
(R):5'- CTTCAGTGCGAGTTTCAGCTC -3'

Sequencing Primer
(F):5'- CAACTCTGAAGCTGCGGTGTG -3'
(R):5'- GTGCGAGTTTCAGCTCAAAACTG -3'

Posted On

2020-07-13