Mutagenetix > Incidental Mutation

Incidental Mutation 'R0267:Gins4'

35002

Institutional Source

Beutler Lab

Gene Symbol

Gins4

Ensembl Gene

ENSMUSG00000031546

Gene Name

GINS complex subunit 4 (Sld5 homolog)

Synonyms

2810037C03Rik, SLD5, 4933405K01Rik

MMRRC Submission

038493-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0267 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23226616-23237659 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 23229410 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000033950 (fasta)

Gene Model

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

AlphaFold

Q99LZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000033950

SMART Domains

Protein: ENSMUSP00000033950
Gene: ENSMUSG00000031546

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.6%
3x: 97.7%
10x: 96.2%
20x: 94.0%

Validation Efficiency

97% (64/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,046,105 (GRCm38)	F1721S	probably damaging	Het
Adgrb1	G	A	15: 74,529,389 (GRCm38)	R78H	probably damaging	Het
Adgrd1	G	A	5: 129,139,594 (GRCm38)	A342T	probably benign	Het
Adrb1	A	T	19: 56,723,491 (GRCm38)	K374*	probably null	Het
Aldh18a1	C	A	19: 40,573,789 (GRCm38)	V264F	probably benign	Het
Aldh1l2	C	T	10: 83,522,687 (GRCm38)		probably benign	Het
Alox15	T	A	11: 70,346,153 (GRCm38)	H393L	probably damaging	Het
Aox2	A	G	1: 58,339,446 (GRCm38)		probably benign	Het
Appbp2	T	C	11: 85,201,462 (GRCm38)	Y297C	probably damaging	Het
Atxn2l	T	G	7: 126,493,207 (GRCm38)	Q950P	probably damaging	Het
Bicd1	A	T	6: 149,517,042 (GRCm38)	D737V	probably damaging	Het
C9	T	C	15: 6,467,458 (GRCm38)	I212T	probably benign	Het
Ccdc63	A	T	5: 122,117,044 (GRCm38)		probably benign	Het
Chst1	C	A	2: 92,613,606 (GRCm38)	P141Q	probably damaging	Het
Cped1	T	A	6: 22,119,476 (GRCm38)	F311L	probably damaging	Het
D6Wsu163e	T	A	6: 126,946,491 (GRCm38)	H113Q	probably benign	Het
Dcn	A	T	10: 97,506,483 (GRCm38)		probably benign	Het
Dmbx1	C	T	4: 115,918,112 (GRCm38)	A324T	probably benign	Het
Dock10	G	T	1: 80,512,454 (GRCm38)	Q1618K	probably damaging	Het
Dpyd	A	G	3: 118,917,272 (GRCm38)	E443G	probably benign	Het
Espl1	T	C	15: 102,313,017 (GRCm38)	V953A	possibly damaging	Het
Exosc10	T	C	4: 148,562,756 (GRCm38)	L174P	probably damaging	Het
Foxg1	A	G	12: 49,385,582 (GRCm38)	Y366C	probably damaging	Het
Fxyd3	T	C	7: 31,070,734 (GRCm38)		probably benign	Het
Gbp2	T	C	3: 142,630,106 (GRCm38)	V189A	probably benign	Het
Gm12789	A	G	4: 101,988,122 (GRCm38)	T3A	probably benign	Het
Gnb1l	T	C	16: 18,548,089 (GRCm38)		probably benign	Het
Gtpbp3	T	C	8: 71,491,497 (GRCm38)	L295S	probably damaging	Het
Hrh4	C	A	18: 13,022,398 (GRCm38)	Y331*	probably null	Het
Hsd11b1	A	T	1: 193,241,397 (GRCm38)	Y52N	probably damaging	Het
Jam3	A	G	9: 27,106,405 (GRCm38)	I29T	probably benign	Het
Kctd16	T	A	18: 40,530,877 (GRCm38)	I353N	probably benign	Het
Lama4	G	T	10: 39,028,639 (GRCm38)	G246C	probably damaging	Het
Lhx3	T	A	2: 26,203,028 (GRCm38)	M137L	probably benign	Het
Morc2a	T	C	11: 3,678,567 (GRCm38)	I340T	probably benign	Het
Myo7a	A	C	7: 98,054,624 (GRCm38)	I1969S	probably benign	Het
Olfr1471	T	A	19: 13,445,428 (GRCm38)	C139S	probably damaging	Het
Olfr304	T	C	7: 86,386,267 (GRCm38)	E131G	possibly damaging	Het
Olfr429	A	G	1: 174,089,166 (GRCm38)	N42S	probably damaging	Het
Pclo	T	C	5: 14,681,180 (GRCm38)	L3232P	unknown	Het
Polr1a	T	G	6: 71,974,139 (GRCm38)	I1407M	probably damaging	Het
Ppip5k2	A	G	1: 97,728,997 (GRCm38)	V817A	probably damaging	Het
Rbfox3	T	C	11: 118,495,240 (GRCm38)	T280A	probably benign	Het
Rfx3	T	C	19: 27,793,788 (GRCm38)	D521G	probably benign	Het
Scn5a	C	T	9: 119,543,135 (GRCm38)	V223I	probably damaging	Het
Sgsm3	T	G	15: 81,006,602 (GRCm38)	M119R	probably damaging	Het
Slc6a7	T	A	18: 60,996,711 (GRCm38)	M608L	probably benign	Het
Slit2	A	G	5: 48,182,331 (GRCm38)		probably benign	Het
Steap2	T	A	5: 5,673,561 (GRCm38)	I440F	probably benign	Het
Syn2	T	G	6: 115,254,150 (GRCm38)		probably benign	Het
Taar2	G	A	10: 23,941,495 (GRCm38)	R311H	probably benign	Het
Tfb2m	G	A	1: 179,533,638 (GRCm38)	H262Y	probably benign	Het
Trmt1l	A	G	1: 151,457,675 (GRCm38)		probably benign	Het
Trpm6	C	A	19: 18,823,378 (GRCm38)	P819T	probably benign	Het
Ttn	G	A	2: 76,743,689 (GRCm38)	A25620V	probably damaging	Het
Ubn2	T	C	6: 38,482,618 (GRCm38)		probably null	Het
Vars	T	C	17: 35,011,596 (GRCm38)		probably benign	Het
Vip	A	T	10: 5,644,004 (GRCm38)	D119V	possibly damaging	Het
Vmn2r92	C	T	17: 18,167,957 (GRCm38)	A408V	probably damaging	Het
Vps33b	T	C	7: 80,286,054 (GRCm38)	I405T	possibly damaging	Het
Zbtb21	T	A	16: 97,952,100 (GRCm38)	S356C	probably damaging	Het
Zdhhc6	A	T	19: 55,308,930 (GRCm38)	S237T	probably benign	Het
Zfp142	G	A	1: 74,576,064 (GRCm38)	A427V	probably benign	Het
Zfp692	T	A	11: 58,314,314 (GRCm38)	V463E	possibly damaging	Het
Zmynd8	A	T	2: 165,828,402 (GRCm38)	I384N	probably damaging	Het

Other mutations in Gins4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01376:Gins4	APN	8	23,227,327 (GRCm38)	missense	probably benign	0.38
IGL01824:Gins4	APN	8	23,234,768 (GRCm38)	nonsense	probably null
IGL02304:Gins4	APN	8	23,232,609 (GRCm38)	missense	probably benign
IGL03194:Gins4	APN	8	23,234,746 (GRCm38)	splice site	probably benign
R0058:Gins4	UTSW	8	23,229,510 (GRCm38)	splice site	probably benign
R0058:Gins4	UTSW	8	23,229,510 (GRCm38)	splice site	probably benign
R1428:Gins4	UTSW	8	23,227,128 (GRCm38)	missense	probably damaging	1.00
R1519:Gins4	UTSW	8	23,234,776 (GRCm38)	missense	probably benign	0.04
R4691:Gins4	UTSW	8	23,237,059 (GRCm38)	missense	probably benign	0.40
R4933:Gins4	UTSW	8	23,234,780 (GRCm38)	missense	probably damaging	0.99
R5088:Gins4	UTSW	8	23,237,068 (GRCm38)	missense	possibly damaging	0.87
R8098:Gins4	UTSW	8	23,237,021 (GRCm38)	missense	probably benign
R9679:Gins4	UTSW	8	23,227,116 (GRCm38)	missense	probably damaging	1.00
RF006:Gins4	UTSW	8	23,227,167 (GRCm38)	missense	possibly damaging	0.71
RF016:Gins4	UTSW	8	23,232,610 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAGTCTGAATCTGCGTAAGAGCCC -3'
(R):5'- AGCCTGTCTCCAGAGGAGTTTGTC -3'

Sequencing Primer
(F):5'- GTAAGAGCCCTGTCCAACTCTC -3'
(R):5'- GTCTTTGCCAAAGAGTAAGTGATCAG -3'

Posted On

2013-05-09