Mutagenetix > Incidental Mutation

Incidental Mutation 'R2080:Zfp598'

229445

Institutional Source

Beutler Lab

Gene Symbol

Zfp598

Ensembl Gene

ENSMUSG00000041130

Gene Name

zinc finger protein 598

Synonyms

MMRRC Submission

040085-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R2080 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24669752-24682015 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 24679667 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 480 (D480A)

Ref Sequence

ENSEMBL: ENSMUSP00000038367 (fasta)

Gene Model

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

AlphaFold

Q80YR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000047179
AA Change: D480A

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

SMART Domains

Protein: ENSMUSP00000038367
Gene: ENSMUSG00000041130
AA Change: D480A

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

0.3213

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (55/55)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 87,971,933	D183V	probably damaging	Het
Ambra1	T	A	2: 91,885,719	D858E	probably damaging	Het
Amdhd2	T	C	17: 24,156,604	T370A	probably benign	Het
Amy1	A	G	3: 113,558,094	W449R	probably benign	Het
Aox3	A	T	1: 58,186,280	I1179F	probably benign	Het
Atp10a	C	A	7: 58,824,327	Q1121K	probably damaging	Het
Btaf1	C	T	19: 36,951,148	A123V	probably benign	Het
Car6	T	C	4: 150,198,141	K16E	probably benign	Het
Cgnl1	C	T	9: 71,656,096	D779N	probably benign	Het
Cyp2a4	G	A	7: 26,308,537	R123Q	possibly damaging	Het
D430041D05Rik	C	T	2: 104,156,816	R1895Q	probably damaging	Het
D5Ertd579e	T	A	5: 36,616,206	T282S	probably benign	Het
Dsel	T	C	1: 111,859,962	T948A	probably benign	Het
Ednrb	A	T	14: 103,843,100	I126N	probably damaging	Het
Egln1	A	G	8: 124,948,306	M250T	probably benign	Het
Epb41l3	A	T	17: 69,253,468	I337L	possibly damaging	Het
Epg5	T	C	18: 77,948,745	I219T	probably benign	Het
Gm13030	T	C	4: 138,873,419		probably benign	Het
Gm1527	T	A	3: 28,926,661	C637S	probably benign	Het
Hist1h1a	A	G	13: 23,763,949	N78S	possibly damaging	Het
Insrr	T	C	3: 87,814,291	I1168T	possibly damaging	Het
Ireb2	T	C	9: 54,896,552	V509A	possibly damaging	Het
Kmt2c	T	C	5: 25,354,717	D981G	probably damaging	Het
Ktn1	A	G	14: 47,725,960	E1164G	probably damaging	Het
L3hypdh	A	T	12: 72,079,527	V213E	probably damaging	Het
Masp1	T	G	16: 23,491,959	D241A	probably damaging	Het
Mfsd13b	A	G	7: 120,991,824	I1V	probably null	Het
Muc5b	T	C	7: 141,869,754	V4531A	probably benign	Het
Myh2	A	T	11: 67,174,941		probably null	Het
Naip5	A	G	13: 100,221,533	L1065P	probably damaging	Het
Necab1	T	C	4: 15,140,219		probably benign	Het
Nemf	A	G	12: 69,353,786		probably benign	Het
Nfil3	A	T	13: 52,968,033	D278E	possibly damaging	Het
Nup98	T	C	7: 102,180,424	N393S	probably damaging	Het
Ogdh	T	A	11: 6,349,393	M753K	probably benign	Het
Olfr11	A	T	13: 21,639,436	V29E	probably damaging	Het
Olfr1297	C	T	2: 111,621,739	V112M	probably benign	Het
Olfr273	T	C	4: 52,855,568	Y315C	probably benign	Het
Olfr561	T	C	7: 102,775,243	F240L	probably benign	Het
Olfr901	T	A	9: 38,431,082	S267T	probably benign	Het
Pkd2	A	G	5: 104,477,123	K262E	probably benign	Het
Plce1	C	T	19: 38,727,013		probably benign	Het
Ppm1f	T	A	16: 16,923,880	M406K	possibly damaging	Het
Ptgs1	C	T	2: 36,242,847	Q286*	probably null	Het
Scube2	T	C	7: 109,808,505	T743A	possibly damaging	Het
Tipin	T	A	9: 64,290,376	L69*	probably null	Het
Tlk1	T	A	2: 70,738,445	K404N	probably damaging	Het
Tmem59	C	A	4: 107,178,774	L16I	probably damaging	Het
Utrn	T	C	10: 12,737,082	E426G	probably benign	Het
Xdh	A	T	17: 73,909,325	S709T	probably damaging	Het
Yjefn3	T	C	8: 69,889,487	N28D	probably damaging	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
R4447:Zfp598	UTSW	17	24676555	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'- GGTGTAACTCTAACCAGTCCTTC -3'
(R):5'- AGAAGACACAGCTACCGTGG -3'

Sequencing Primer
(F):5'- CCCTCCTTGGACCCAGTAC -3'
(R):5'- ACAGTGAGGCCACCGCTATC -3'

Posted On

2014-09-17