Mutagenetix > Incidental Mutations

Incidental Mutation 'R6657:Zfp599'

526670

Institutional Source

Beutler Lab

Gene Symbol

Zfp599

Ensembl Gene

ENSMUSG00000062794

Gene Name

zinc finger protein 599

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R6657 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22247430-22259895 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22250242 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 209 (F209S)

Ref Sequence

ENSEMBL: ENSMUSP00000083462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086281]

AlphaFold

E9PWP1

Predicted Effect

probably damaging
Transcript: ENSMUST00000086281
AA Change: F209S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083462
Gene: ENSMUSG00000062794
AA Change: F209S

Domain	Start	End	E-Value	Type
KRAB	4	64	5.35e-33	SMART
ZnF_C2H2	228	250	5.59e-4	SMART
ZnF_C2H2	256	278	2.43e-4	SMART
ZnF_C2H2	284	306	1.69e-3	SMART
ZnF_C2H2	312	334	8.94e-3	SMART
ZnF_C2H2	340	362	8.47e-4	SMART
ZnF_C2H2	368	390	5.06e-2	SMART
ZnF_C2H2	396	418	7.9e-4	SMART
ZnF_C2H2	424	446	7.67e-2	SMART
ZnF_C2H2	452	474	1.64e-1	SMART
ZnF_C2H2	480	503	7.37e-4	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.0%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	T	G	8: 105,708,818	L36R	probably damaging	Het
Akr1b3	C	T	6: 34,310,004	V206M	possibly damaging	Het
Akr1b7	A	C	6: 34,416,200	D106A	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
Chst5	C	T	8: 111,890,274	R238Q	probably benign	Het
Cpxm2	T	C	7: 132,049,077	Y618C	probably damaging	Het
Csnk1d	T	C	11: 120,964,994	E405G	possibly damaging	Het
Ctsh	A	T	9: 90,060,502	M37L	probably benign	Het
Eml5	T	G	12: 98,791,405	I1843L	probably damaging	Het
Ep400	C	A	5: 110,693,545		probably benign	Het
Fbln2	A	G	6: 91,259,750	N749S	possibly damaging	Het
Gpc5	A	G	14: 115,370,198	H404R	probably benign	Het
Hyal6	A	G	6: 24,734,758	D230G	possibly damaging	Het
Itga5	T	C	15: 103,350,795	D735G	probably damaging	Het
Kansl2	T	A	15: 98,524,670	Q339L	possibly damaging	Het
Lrp4	T	A	2: 91,492,053	M1078K	probably benign	Het
Mmp24	A	T	2: 155,798,179	Y143F	probably damaging	Het
Mroh7	A	T	4: 106,702,500	C743*	probably null	Het
Myh14	T	C	7: 44,637,846	N618D	probably damaging	Het
Myo19	A	T	11: 84,897,196	M324L	probably benign	Het
Nectin2	T	C	7: 19,738,140	N108S	probably benign	Het
Nrg2	A	G	18: 36,196,589	I191T	probably damaging	Het
Odf4	T	C	11: 68,926,812	N18D	probably benign	Het
Olfr1109	T	A	2: 87,093,059	I113F	probably benign	Het
Pcsk2	T	G	2: 143,690,366	L145V	probably damaging	Het
Pdzrn3	C	A	6: 101,151,022	Q894H	probably benign	Het
Pfpl	G	A	19: 12,429,926	V514I	probably benign	Het
Plbd1	A	T	6: 136,617,252	M333K	probably damaging	Het
Plec	A	T	15: 76,178,156	M2554K	possibly damaging	Het
Psmb5	A	G	14: 54,614,383	Y115H	possibly damaging	Het
Rictor	A	G	15: 6,759,496	N198D	possibly damaging	Het
Rsrc2	A	G	5: 123,739,567		probably benign	Het
Sec16a	C	T	2: 26,425,864	W262*	probably null	Het
Sfmbt1	A	G	14: 30,766,096	D8G	possibly damaging	Het
Sptbn5	T	G	2: 120,076,400		probably benign	Het
Sqor	A	G	2: 122,807,594	D139G	possibly damaging	Het
Sugt1	A	T	14: 79,607,261	T139S	probably benign	Het
Tcp11	G	A	17: 28,071,672	P159S	probably damaging	Het
Tmem262	A	G	19: 6,080,512	T89A	possibly damaging	Het
Tnfaip6	C	A	2: 52,043,783	T50N	probably damaging	Het
Ttll9	T	C	2: 152,984,262	Y131H	probably damaging	Het
Vmn1r173	T	A	7: 23,702,895	M185K	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r52	G	A	7: 10,159,163	T683I	probably damaging	Het
Vps53	A	T	11: 76,134,427	I197N	probably damaging	Het
Washc4	T	A	10: 83,558,618	F269L	possibly damaging	Het
Wdfy4	C	T	14: 33,047,251	V2086M	possibly damaging	Het
Zfp592	A	T	7: 81,025,486	T733S	possibly damaging	Het

Other mutations in Zfp599

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Zfp599	APN	9	22249472	missense	possibly damaging	0.94
IGL00845:Zfp599	APN	9	22251518	splice site	probably benign
R0136:Zfp599	UTSW	9	22249742	missense	probably benign	0.13
R0239:Zfp599	UTSW	9	22249759	missense	probably damaging	1.00
R0239:Zfp599	UTSW	9	22249759	missense	probably damaging	1.00
R0421:Zfp599	UTSW	9	22250547	splice site	probably benign
R1699:Zfp599	UTSW	9	22250404	missense	probably benign	0.20
R1723:Zfp599	UTSW	9	22258065	missense	probably damaging	1.00
R1899:Zfp599	UTSW	9	22251549	missense	probably benign	0.00
R4231:Zfp599	UTSW	9	22249745	nonsense	probably null
R4233:Zfp599	UTSW	9	22249745	nonsense	probably null
R4236:Zfp599	UTSW	9	22249745	nonsense	probably null
R4931:Zfp599	UTSW	9	22258123	missense	probably damaging	0.98
R5117:Zfp599	UTSW	9	22250100	nonsense	probably null
R5615:Zfp599	UTSW	9	22253869	missense	probably benign
R5759:Zfp599	UTSW	9	22249661	missense	probably damaging	1.00
R5915:Zfp599	UTSW	9	22249834	missense	probably damaging	1.00
R6184:Zfp599	UTSW	9	22249651	missense	probably benign	0.18
R6188:Zfp599	UTSW	9	22249990	missense	probably damaging	1.00
R6736:Zfp599	UTSW	9	22249844	missense	probably damaging	1.00
R6752:Zfp599	UTSW	9	22249544	missense	probably damaging	1.00
R7071:Zfp599	UTSW	9	22258096	missense	probably benign	0.38
R7643:Zfp599	UTSW	9	22249892	missense	probably benign	0.19
R7714:Zfp599	UTSW	9	22250515	missense	probably benign	0.07
R7951:Zfp599	UTSW	9	22249468	missense	probably damaging	1.00
R7967:Zfp599	UTSW	9	22249534	missense	possibly damaging	0.66
R8014:Zfp599	UTSW	9	22249481	missense	probably benign	0.03
R8187:Zfp599	UTSW	9	22249815	nonsense	probably null
RF005:Zfp599	UTSW	9	22253884	missense	probably benign	0.03
RF024:Zfp599	UTSW	9	22253884	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGAGTGAGTTTTGATTTCTGGTAGAA -3'
(R):5'- TCTCCATTACACGGCAACTCT -3'

Sequencing Primer
(F):5'- GGTAGAAAGCTTTCCCACATTCAG -3'
(R):5'- GGCAACTCTCACTAAAGGTCAGAG -3'

Posted On

2018-07-23