Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01376:Gins4'

78736

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gins4

Ensembl Gene

ENSMUSG00000031546

Gene Name

GINS complex subunit 4 (Sld5 homolog)

Synonyms

2810037C03Rik, SLD5, 4933405K01Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01376

Quality Score

Status

Chromosome

Chromosomal Location

23226616-23237659 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23227327 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 166 (D166G)

Ref Sequence

ENSEMBL: ENSMUSP00000033950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033950]

AlphaFold

Q99LZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000033950
AA Change: D166G

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000033950
Gene: ENSMUSG00000031546
AA Change: D166G

Domain	Start	End	E-Value	Type
Pfam:Sld5	20	127	5.3e-9	PFAM
Pfam:SLD5_C	165	223	4.1e-21	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The yeast heterotetrameric GINS complex is made up of Sld5, Psf1 (GINS1; MIM 610608), Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutant animals do not survive past implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	A	G	1: 37,628,344	L207P	probably damaging	Het
4930568D16Rik	A	T	2: 35,355,628	I61K	probably benign	Het
Acot12	A	G	13: 91,784,671	Y521C	probably damaging	Het
Anxa7	T	C	14: 20,460,456	N313D	probably benign	Het
Cdk14	T	C	5: 5,010,839	I327M	probably damaging	Het
Clca3b	T	C	3: 144,826,051	N664S	possibly damaging	Het
Cpb1	A	C	3: 20,270,324	L62R	probably benign	Het
Eef2	G	A	10: 81,178,049		probably benign	Het
Enox1	T	C	14: 77,251,843		probably benign	Het
Esco1	A	T	18: 10,594,892	C131*	probably null	Het
Etv1	A	T	12: 38,857,040	D347V	probably damaging	Het
Fat1	A	G	8: 45,026,841	I2975V	probably benign	Het
Ghsr	A	G	3: 27,371,828	E11G	probably benign	Het
Iglv2	G	T	16: 19,260,565	H62N	possibly damaging	Het
Irf2bp1	T	C	7: 19,006,027	S531P	possibly damaging	Het
Lrig3	T	A	10: 125,994,466	F144L	probably benign	Het
Magi1	C	T	6: 94,283,093	R77Q	possibly damaging	Het
Mlkl	A	G	8: 111,319,747	L298P	probably damaging	Het
Ndc1	T	C	4: 107,375,197	L193P	probably damaging	Het
Npas3	A	T	12: 54,044,586	T308S	probably benign	Het
Nt5dc3	A	T	10: 86,834,164	Q541L	probably benign	Het
Olfr1084	A	C	2: 86,639,609	V33G	probably benign	Het
Olfr1115	T	C	2: 87,252,873	V312A	possibly damaging	Het
Parp10	G	T	15: 76,241,677	T437K	probably benign	Het
Phf3	A	G	1: 30,830,485	V494A	possibly damaging	Het
Prpf8	C	A	11: 75,494,295	A794D	possibly damaging	Het
Sars2	T	A	7: 28,749,883	Y307N	probably damaging	Het
Serping1	A	T	2: 84,770,185	V271E	probably damaging	Het
Sgpl1	G	A	10: 61,114,070	P117S	probably damaging	Het
Slc38a1	A	C	15: 96,585,556	L297R	probably damaging	Het
Strbp	A	G	2: 37,645,651	M15T	probably damaging	Het
Tdp2	A	G	13: 24,836,949		probably null	Het
Tex10	T	C	4: 48,456,740	Y657C	possibly damaging	Het
Xrcc4	A	T	13: 90,062,050	S92T	probably benign	Het

Other mutations in Gins4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01824:Gins4	APN	8	23234768	nonsense	probably null
IGL02304:Gins4	APN	8	23232609	missense	probably benign
IGL03194:Gins4	APN	8	23234746	splice site	probably benign
R0058:Gins4	UTSW	8	23229510	splice site	probably benign
R0058:Gins4	UTSW	8	23229510	splice site	probably benign
R0267:Gins4	UTSW	8	23229410	splice site	probably benign
R1428:Gins4	UTSW	8	23227128	missense	probably damaging	1.00
R1519:Gins4	UTSW	8	23234776	missense	probably benign	0.04
R4691:Gins4	UTSW	8	23237059	missense	probably benign	0.40
R4933:Gins4	UTSW	8	23234780	missense	probably damaging	0.99
R5088:Gins4	UTSW	8	23237068	missense	possibly damaging	0.87
R8098:Gins4	UTSW	8	23237021	missense	probably benign
R9679:Gins4	UTSW	8	23227116	missense	probably damaging	1.00
RF006:Gins4	UTSW	8	23227167	missense	possibly damaging	0.71
RF016:Gins4	UTSW	8	23232610	missense	probably benign

Posted On

2013-11-05