Mutagenetix > Incidental Mutation

Incidental Mutation 'R4447:Zfp598'

381268

Institutional Source

Beutler Lab

Gene Symbol

Zfp598

Ensembl Gene

ENSMUSG00000041130

Gene Name

zinc finger protein 598

Synonyms

MMRRC Submission

041708-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R4447 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24669752-24682015 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24676555 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 73 (V73E)

Ref Sequence

ENSEMBL: ENSMUSP00000038367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047179]

AlphaFold

Q80YR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000047179
AA Change: V73E

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

SMART Domains

Protein: ENSMUSP00000038367
Gene: ENSMUSG00000041130
AA Change: V73E

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
RING	27	66	4.73e-1	SMART
ZnF_C2H2	115	140	9.46e0	SMART
low complexity region	144	153	N/A	INTRINSIC
ZnF_C2H2	185	208	5.2e0	SMART
ZnF_C2H2	209	237	7.11e0	SMART
ZnF_C2H2	238	268	6.47e1	SMART
low complexity region	311	331	N/A	INTRINSIC
low complexity region	344	356	N/A	INTRINSIC
low complexity region	371	385	N/A	INTRINSIC
low complexity region	445	454	N/A	INTRINSIC
low complexity region	482	501	N/A	INTRINSIC
low complexity region	526	544	N/A	INTRINSIC
low complexity region	581	589	N/A	INTRINSIC
low complexity region	645	663	N/A	INTRINSIC
low complexity region	668	683	N/A	INTRINSIC
low complexity region	694	748	N/A	INTRINSIC
ZnF_C2H2	869	890	8.84e1	SMART

Meta Mutation Damage Score

0.7753

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (32/32)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This protein and Grb10-interacting GYF protein 2 have been identified as a components of the mammalian 4EHP (m4EHP) complex. The complex is thought to function as a translation repressor in embryonic development. [provided by RefSeq, Oct 2012]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,198	T603A	probably benign	Het
3930402G23Rik	T	A	8: 10,926,129		noncoding transcript	Het
Acsf2	G	T	11: 94,569,359	P389Q	possibly damaging	Het
Aldh6a1	A	G	12: 84,439,709	V120A	possibly damaging	Het
Alg11	C	A	8: 22,068,079	A469E	probably benign	Het
Ankar	A	G	1: 72,687,789	S415P	possibly damaging	Het
Ano3	A	T	2: 110,761,578		probably null	Het
Asic4	A	T	1: 75,470,370		probably benign	Het
Atp1a4	A	C	1: 172,234,431	I709S	probably damaging	Het
Cyp11b2	T	C	15: 74,855,563	I90V	probably benign	Het
Fam129a	A	T	1: 151,636,402		probably null	Het
Galnt2	A	G	8: 124,295,377	D14G	probably benign	Het
Iqcm	T	C	8: 75,629,766	S176P	probably damaging	Het
Irf5	T	A	6: 29,535,942	D318E	probably damaging	Het
Map2k3	A	T	11: 60,947,171	S253C	probably damaging	Het
Mgst1	G	T	6: 138,141,664		probably benign	Het
Mipol1	G	T	12: 57,352,748		probably benign	Het
Olfr371	T	A	8: 85,231,366	Y290*	probably null	Het
Pomgnt1	G	T	4: 116,152,923	V161L	possibly damaging	Het
Rnpc3	T	C	3: 113,611,137		probably benign	Het
Rxfp1	C	T	3: 79,652,127		probably benign	Het
Scn5a	T	C	9: 119,550,627	D197G	probably damaging	Het
Thsd7a	G	A	6: 12,324,635	T1479I	probably damaging	Het
Twsg1	C	T	17: 65,929,787	D83N	possibly damaging	Het
Ubqln3	C	T	7: 104,142,814	R23Q	probably benign	Het
Vmn1r228	T	C	17: 20,777,107	I50V	probably damaging	Het
Wnk4	T	A	11: 101,268,451	S565T	possibly damaging	Het
Wwc2	A	G	8: 47,868,667	Y471H	unknown	Het
Zfp407	A	T	18: 84,562,694	V98D	possibly damaging	Het
Zscan29	T	A	2: 121,169,886		probably null	Het

Other mutations in Zfp598

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Zfp598	APN	17	24681424	unclassified	probably benign
IGL02118:Zfp598	APN	17	24677617	missense	probably damaging	1.00
IGL02178:Zfp598	APN	17	24677543	missense	probably damaging	1.00
IGL02591:Zfp598	APN	17	24677504	missense	probably damaging	1.00
IGL03061:Zfp598	APN	17	24679592	missense	probably benign	0.03
FR4304:Zfp598	UTSW	17	24680775	small insertion	probably benign
FR4340:Zfp598	UTSW	17	24679372	small deletion	probably benign
FR4340:Zfp598	UTSW	17	24680783	small insertion	probably benign
FR4342:Zfp598	UTSW	17	24680780	small insertion	probably benign
FR4449:Zfp598	UTSW	17	24680776	small insertion	probably benign
FR4449:Zfp598	UTSW	17	24680785	small insertion	probably benign
FR4548:Zfp598	UTSW	17	24680775	small insertion	probably benign
FR4548:Zfp598	UTSW	17	24680776	small insertion	probably benign
FR4589:Zfp598	UTSW	17	24680779	small insertion	probably benign
FR4737:Zfp598	UTSW	17	24680776	small insertion	probably benign
FR4737:Zfp598	UTSW	17	24680782	small insertion	probably benign
FR4737:Zfp598	UTSW	17	24680791	small insertion	probably benign
FR4976:Zfp598	UTSW	17	24679372	small deletion	probably benign
FR4976:Zfp598	UTSW	17	24680782	small insertion	probably benign
R0309:Zfp598	UTSW	17	24678584	splice site	probably benign
R1295:Zfp598	UTSW	17	24679649	missense	probably benign	0.00
R1296:Zfp598	UTSW	17	24679649	missense	probably benign	0.00
R1471:Zfp598	UTSW	17	24680072	missense	probably benign	0.00
R1523:Zfp598	UTSW	17	24678629	missense	probably null	1.00
R1819:Zfp598	UTSW	17	24681130	unclassified	probably benign
R2001:Zfp598	UTSW	17	24669924	missense	possibly damaging	0.94
R2080:Zfp598	UTSW	17	24679667	missense	probably damaging	1.00
R5086:Zfp598	UTSW	17	24680898	unclassified	probably benign
R5923:Zfp598	UTSW	17	24677549	missense	probably damaging	1.00
R6191:Zfp598	UTSW	17	24677876	missense	possibly damaging	0.89
R6680:Zfp598	UTSW	17	24678686	missense	probably benign	0.06
R7438:Zfp598	UTSW	17	24677530	missense	probably damaging	1.00
R7870:Zfp598	UTSW	17	24679330	missense	probably damaging	0.98
R9513:Zfp598	UTSW	17	24677594	missense	probably damaging	0.97
RF009:Zfp598	UTSW	17	24680787	small insertion	probably benign
RF016:Zfp598	UTSW	17	24680771	small insertion	probably benign
RF018:Zfp598	UTSW	17	24680771	small insertion	probably benign
RF053:Zfp598	UTSW	17	24680761	small insertion	probably benign
RF058:Zfp598	UTSW	17	24680761	small insertion	probably benign
RF061:Zfp598	UTSW	17	24680770	small insertion	probably benign
RF064:Zfp598	UTSW	17	24680783	small insertion	probably benign
Z1088:Zfp598	UTSW	17	24680210	small insertion	probably benign
Z1177:Zfp598	UTSW	17	24679639	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGGAGAGCCTGGATATCACATC -3'
(R):5'- TTCTTGTGCCCCTCAAAAGG -3'

Sequencing Primer
(F):5'- GAGAGCCTGGATATCACATCTGTTC -3'
(R):5'- AGGTCACCAGCACCGTGTATG -3'

Posted On

2016-04-26