Mutagenetix > Incidental Mutation

Incidental Mutation 'RF058:Zfp598'

605339

Institutional Source

Beutler Lab

Gene Symbol

Zfp598

Ensembl Gene

ENSMUSG00000041130

Gene Name

zinc finger protein 598

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

RF058 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

24669752-24682015 bp(+) (GRCm38)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

CCCACCACCACAACCACCACCACCACCACCAC to CCCACCACCACCACCACAACCACCACCACCACCACCAC at 24680761 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007236] [ENSMUST00000047179]

AlphaFold

Q80YR4

Predicted Effect

probably benign
Transcript: ENSMUST00000007236

SMART Domains

Protein: ENSMUSP00000007236
Gene: ENSMUSG00000007021

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
Pfam:MARVEL	20	166	4.1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000047179

SMART Domains

Protein: ENSMUSP00000038367
Gene: ENSMUSG00000041130

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.7%

Validation Efficiency

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: 22 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
3110021N24Rik	GAGCGCGGCC	G	4: 108,780,629	probably benign	Het
5430401F13Rik	AAGGAAAAGGTGGCCAG	AAGGAAAAGGTGGCCAGCAAAAACAGAGAGGAAAAGGTGGCCAG	6: 131,552,887	probably benign	Het
5430401F13Rik	CAG	CAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,901	probably benign	Het
Alg9	GGC	GGCTGC	9: 50,775,427	probably benign	Het
Arid1b	CGGGGG	CGGGGGGGG	17: 4,995,583	probably benign	Het
Chd4	GC	GCTCCCTC	6: 125,122,131	probably benign	Het
Chga	CAG	CAGAAG	12: 102,561,416	probably benign	Het
Cort	GCCCACTCGT	G	4: 149,125,412	probably benign	Het
Flywch1	GT	GTGGGGAGGCTACGTGCTCACCCGCTCCTGGTAT	17: 23,762,177	probably null	Het
Gab3	TCT	TCTACT	X: 75,000,002	probably benign	Het
Gabre	C	CCGGCTG	X: 72,270,063	probably benign	Het
Haus4	CACTTAAAAAAAAAA	CA	14: 54,550,035	probably benign	Het
Il2	AG	AGGGCTTGAAGTGG	3: 37,125,817	probably benign	Het
Il2	CTTGAAGTGG	CTTGAAGTGGGGATTGAAGTGG	3: 37,125,821	probably benign	Het
Kri1	TCCTCCTCC	TC	9: 21,281,066	probably null	Het
Krtap28-10	ACAGCCACCACAGCCACAGCCACCACAGC	ACAGCCACCACAGCCCCAGCCACCACAGCCACAGCCACCACAGC	1: 83,042,262	probably benign	Het
Mbd1	CGTCTTCGTCTGCATCTGCATCTGCA	C	18: 74,273,609	probably null	Het
Nefh	CCTC	CCTCGCCTGGGGACTTGGACTC	11: 4,941,021	probably benign	Het
Rtbdn	GCAGCG	GCAGCGACAGCG	8: 84,956,172	probably benign	Het
Setd1a	GTGGTGGT	GTGGTGGTATTGGTGGT	7: 127,785,318	probably benign	Het
Treml1	ACCT	A	17: 48,359,947	probably null	Het
Triobp	CTCCCTGTGCCCAAC	CTCCCTGTGCCCAACTGAACAACCCCAGGATTCCCTGTGCCCAAC	15: 78,967,044	probably benign	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
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
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'- TAGTTGGGATCACACTGAAGC -3'
(R):5'- CATCGCTTTGCAGAAAGTCC -3'

Sequencing Primer
(F):5'- GGGATCACACTGAAGCTCTTATGTC -3'
(R):5'- CCTTGATAGACTGGATAAGCTGC -3'

Posted On

2019-12-04