Mutagenetix > Incidental Mutation

Incidental Mutation 'R5088:Gins4'

387576

Institutional Source

Beutler Lab

Gene Symbol

Gins4

Ensembl Gene

ENSMUSG00000031546

Gene Name

GINS complex subunit 4 (Sld5 homolog)

Synonyms

2810037C03Rik, SLD5, 4933405K01Rik

MMRRC Submission

042677-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5088 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23226616-23237659 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23237068 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 3 (E3G)

Ref Sequence

ENSEMBL: ENSMUSP00000033950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033950] [ENSMUST00000051094] [ENSMUST00000121783]

AlphaFold

Q99LZ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033950
AA Change: E3G

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000033950
Gene: ENSMUSG00000031546
AA Change: E3G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000051094

SMART Domains

Protein: ENSMUSP00000062983
Gene: ENSMUSG00000015341

Domain	Start	End	E-Value	Type
Pfam:Erf4	11	125	3.2e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121783

SMART Domains

Protein: ENSMUSP00000112935
Gene: ENSMUSG00000015341

Domain	Start	End	E-Value	Type
Pfam:Erf4	11	125	3.2e-38	PFAM

Meta Mutation Damage Score

0.0797

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (72/73)

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
4930522L14Rik	A	T	5: 109,736,073 (GRCm38)	C640S	probably damaging	Het
4931429L15Rik	T	C	9: 46,305,740 (GRCm38)	R246G	probably benign	Het
Aak1	T	C	6: 86,944,480 (GRCm38)		probably null	Het
Abcc5	A	G	16: 20,376,662 (GRCm38)	L695P	probably damaging	Het
Alcam	T	A	16: 52,288,927 (GRCm38)	T328S	probably damaging	Het
Alpk1	A	G	3: 127,685,320 (GRCm38)		probably benign	Het
Arel1	A	G	12: 84,924,115 (GRCm38)	L642P	probably damaging	Het
Atrip	T	C	9: 109,059,896 (GRCm38)	D741G	probably damaging	Het
Bmp1	T	C	14: 70,486,219 (GRCm38)	T726A	possibly damaging	Het
Bnip3	A	G	7: 138,894,608 (GRCm38)		probably null	Het
Cacng5	C	G	11: 107,877,389 (GRCm38)	C264S	possibly damaging	Het
Calr4	T	A	4: 109,244,662 (GRCm38)		probably benign	Het
Cdhr1	T	A	14: 37,089,465 (GRCm38)	T230S	probably benign	Het
Cdk16	T	C	X: 20,696,327 (GRCm38)		probably benign	Het
Cenpj	T	C	14: 56,553,691 (GRCm38)	E337G	probably damaging	Het
Chd9	A	G	8: 90,977,519 (GRCm38)	I694V	possibly damaging	Het
Chsy3	T	A	18: 59,179,535 (GRCm38)	V360D	probably damaging	Het
Col16a1	C	T	4: 130,079,195 (GRCm38)	T643M	probably benign	Het
Col5a1	G	A	2: 28,018,602 (GRCm38)	W67*	probably null	Het
Cyp20a1	A	T	1: 60,363,350 (GRCm38)	H198L	probably damaging	Het
Dnai1	T	A	4: 41,597,630 (GRCm38)	S38T	probably benign	Het
Dnai1	T	G	4: 41,632,251 (GRCm38)	S562A	probably benign	Het
Dpy19l4	G	T	4: 11,303,357 (GRCm38)	T188K	probably damaging	Het
Ergic2	A	G	6: 148,183,123 (GRCm38)	V304A	probably damaging	Het
Fam83a	A	G	15: 58,009,800 (GRCm38)	T342A	probably benign	Het
Fbxo7	A	G	10: 86,021,920 (GRCm38)		probably benign	Het
Glis3	G	A	19: 28,531,579 (GRCm38)	P335L	probably benign	Het
Golph3l	A	T	3: 95,617,190 (GRCm38)	T251S	possibly damaging	Het
Hnf4g	C	T	3: 3,657,121 (GRCm38)	A445V	probably benign	Het
Hykk	A	G	9: 54,946,479 (GRCm38)	I362V	probably benign	Het
Il6st	G	A	13: 112,490,555 (GRCm38)	V294M	probably damaging	Het
Itpr1	A	G	6: 108,389,387 (GRCm38)	I92V	probably damaging	Het
Kdm4c	T	C	4: 74,334,699 (GRCm38)	L501P	probably benign	Het
Mpi	G	A	9: 57,550,604 (GRCm38)	T105M	probably damaging	Het
Mrpl37	A	T	4: 107,064,722 (GRCm38)	L132H	probably damaging	Het
Muc5ac	A	T	7: 141,796,319 (GRCm38)	T600S	possibly damaging	Het
Npl	A	T	1: 153,509,144 (GRCm38)	I249N	possibly damaging	Het
Or10j27	C	T	1: 173,131,039 (GRCm38)	M59I	probably damaging	Het
Or7g30	A	G	9: 19,441,771 (GRCm38)	N286S	probably damaging	Het
Pkd1	A	G	17: 24,590,838 (GRCm38)	K3497E	possibly damaging	Het
Ptprt	T	C	2: 162,238,175 (GRCm38)	N235D	probably benign	Het
Rangap1	A	C	15: 81,710,463 (GRCm38)	D388E	probably benign	Het
Rcvrn	A	T	11: 67,695,514 (GRCm38)	Q33L	probably benign	Het
Rif1	A	T	2: 52,092,295 (GRCm38)	K524I	possibly damaging	Het
Rnf139	A	T	15: 58,899,941 (GRCm38)	N605I	possibly damaging	Het
Ryr2	C	A	13: 11,712,243 (GRCm38)	G2411*	probably null	Het
Scn3a	A	T	2: 65,472,299 (GRCm38)	S1268T	probably damaging	Het
Sema6a	T	A	18: 47,249,129 (GRCm38)	I784F	probably damaging	Het
Sgms2	C	T	3: 131,330,356 (GRCm38)	V232M	probably benign	Het
Skint7	T	C	4: 111,980,430 (GRCm38)	I135T	possibly damaging	Het
Smchd1	A	T	17: 71,431,348 (GRCm38)	N507K	possibly damaging	Het
Spata31d1a	A	C	13: 59,701,152 (GRCm38)		probably null	Het
Spata7	A	T	12: 98,669,502 (GRCm38)	D527V	probably benign	Het
Srcap	A	G	7: 127,541,661 (GRCm38)	T1477A	probably benign	Het
Srl	C	A	16: 4,482,769 (GRCm38)	D375Y	probably damaging	Het
Stk4	A	T	2: 164,083,688 (GRCm38)	K58*	probably null	Het
Svep1	T	G	4: 58,120,648 (GRCm38)	H795P	possibly damaging	Het
Trak2	T	A	1: 58,935,808 (GRCm38)	Q75L	probably benign	Het
Ubxn2a	T	A	12: 4,883,904 (GRCm38)	N169I	probably damaging	Het
Vmn1r216	T	A	13: 23,099,303 (GRCm38)	L52*	probably null	Het
Vmn2r108	A	T	17: 20,470,192 (GRCm38)	N459K	possibly damaging	Het
Vstm5	A	G	9: 15,257,305 (GRCm38)	D55G	possibly damaging	Het
Wdr24	T	A	17: 25,828,207 (GRCm38)		probably null	Het
Zfp13	C	A	17: 23,577,061 (GRCm38)	E179*	probably null	Het
Zfp839	T	C	12: 110,868,176 (GRCm38)	S546P	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
R0267:Gins4	UTSW	8	23,229,410 (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
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'- ACAAACACTGCTCTTTGGAAAC -3'
(R):5'- TAGTGTGGTATCTGCCCAGG -3'

Sequencing Primer
(F):5'- ACACGGGACATATTTGGG -3'
(R):5'- TGGTATCTGCCCAGGTCCAG -3'

Posted On

2016-06-06