Mutagenetix > Incidental Mutation

Incidental Mutation 'RF016:Gins4'

603553

Institutional Source

Beutler Lab

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 #

RF016 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23226616-23237659 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23232610 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 98 (M98V)

Ref Sequence

ENSEMBL: ENSMUSP00000033950 (fasta)

Gene Model

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

AlphaFold

Q99LZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000033950
AA Change: M98V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033950
Gene: ENSMUSG00000031546
AA Change: M98V

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

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	TGCTGTGGC	TGCTGTGGCGGCTGTGGC	1: 82,913,577		probably benign	Het
Abi3bp	GCCCACGACCC	GCCCACGACCCACGACCC	16: 56,627,587		probably null	Het
Amer3	A	G	1: 34,587,120	I147V	probably damaging	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,560,909		probably benign	Het
Ankhd1	GCGGCG	GCGGCGACGGCG	18: 36,560,910		probably benign	Het
Ankzf1	G	A	1: 75,195,833	R259H	probably damaging	Het
Apol9b	T	C	15: 77,735,514	V170A	probably benign	Het
Asb3	A	G	11: 31,061,407	I267M	possibly damaging	Het
Baz2a	A	G	10: 128,125,316	E1636G	probably benign	Het
Birc6	G	T	17: 74,689,324	V4513F	probably damaging	Het
Blm	CCTCCTCC	CCTCCTCCTCCTACTCCTCC	7: 80,512,926		probably null	Het
Ccdc113	G	A	8: 95,538,105	R81H	probably benign	Het
Ccdc27	T	C	4: 154,036,110	R410G	probably benign	Het
Cdhr5	A	G	7: 141,272,184	V435A	possibly damaging	Het
Cercam	T	C	2: 29,869,305	S15P	unknown	Het
Cntrl	T	C	2: 35,119,986	V224A	probably benign	Het
Comtd1	T	A	14: 21,848,596	Q56L	probably benign	Het
Cul9	CCT	CCTACT	17: 46,500,863		probably null	Het
Cyb5r4	TGTGACAGACACACTGCCCAGGGA	TGTGACAGACACACTGCCCAGGGACGTGACAGACACACTGCCCAGGGA	9: 87,040,425		probably benign	Het
Cyb5r4	CCCAGGGA	CCCAGGGATGTGACAGACACACTGACCAGGGA	9: 87,040,441		probably benign	Het
Cyb5r4	AGGGA	AGGGATGGGACAGACCCACTGCCCCGGGA	9: 87,040,444		probably benign	Het
Cyld	T	A	8: 88,705,441	Y22*	probably null	Het
Dbt	T	C	3: 116,539,714	Y278H	probably damaging	Het
Ddb1	A	G	19: 10,627,858	H1070R	probably damaging	Het
Dek	G	T	13: 47,098,186	S248*	probably null	Het
Dixdc1	T	C	9: 50,693,641	T300A	probably benign	Het
Dusp8	A	T	7: 142,082,852	S334T	probably benign	Het
Efhd2	CCGCCG	CCGCCGACGCCG	4: 141,874,756		probably benign	Het
Ehbp1	T	C	11: 22,146,646	N306S	probably benign	Het
Fcer1a	T	C	1: 173,225,519	I37V	possibly damaging	Het
Fgfr2	G	T	7: 130,177,680	Q639K	probably benign	Het
Gab3	CTT	CTTATT	X: 74,999,985		probably null	Het
Gm35339	A	T	15: 76,355,972	I331F		Het
Gm813	T	A	16: 58,616,867	N26I	probably damaging	Het
Gm8369	GTGTGTGT	GTGTGTGTTTGTGTGT	19: 11,511,754		probably null	Het
Grik1	G	A	16: 88,034,186	S232L		Het
Gsg1l	A	G	7: 126,020,622		probably null	Het
H13	G	A	2: 152,669,669	E30K	probably damaging	Het
H2-DMb1	A	T	17: 34,157,386	S160C	probably damaging	Het
Hsdl2	GCAGCCACAGCTGCAG	GCAGCCACAGCTGCAGCATCAGCCACAGCTGCAG	4: 59,610,643		probably benign	Het
Iqcf4	TTTCCTTTTCCTTTT	TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTGTTCCTTTTCCTTTT	9: 106,570,609		probably benign	Het
Jag1	T	A	2: 137,096,256	T275S	probably benign	Het
Klhdc2	T	A	12: 69,303,886	I158K	probably damaging	Het
Krtap28-10	TCCC	TCCCGCACCC	1: 83,042,123		probably benign	Het
Lrp2	T	A	2: 69,509,205	M1121L	probably benign	Het
M6pr	C	T	6: 122,315,165	A152V	probably damaging	Het
Mapkapk5	T	C	5: 121,533,316	Y218C	probably damaging	Het
Mkrn1	C	T	6: 39,419,991	V26I		Het
Mro	CA	CAAACTCGGA	18: 73,869,964		probably null	Het
Mrpl3	T	C	9: 105,075,253	V303A	probably benign	Het
Nefh	CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,022		probably benign	Het
Nefh	TCACCTGGGGACT	TCACCTGGGGACTCGGCCCCACCTGGGGACT	11: 4,941,023		probably benign	Het
Nid2	GGCTAACACCGC	GGC	14: 19,751,363		probably benign	Het
Nusap1	CAAGCTGAGA	CAAGCTGAGATACACGTTAGCAGTGAGGAGAAAGCTGAGA	2: 119,627,601		probably benign	Het
Olfr212	G	T	6: 116,516,043	A89S	probably benign	Het
Olfr964-ps1	A	ATAGG	9: 39,686,754		probably null	Het
Ovol1	A	G	19: 5,553,612	V87A	probably benign	Het
Pdpk1	T	A	17: 24,093,281	E290D	probably benign	Het
Pkd1l3	T	A	8: 109,623,542	S340T	probably benign	Het
Pknox2	ACACACACACACACACTCAC	ACAC	9: 36,909,609		probably benign	Het
Pou3f1	GC	GCGGCGCC	4: 124,657,809		probably benign	Het
Prp2	AGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	AGAGACCCCCTCAAGGCCCACCACC	6: 132,600,512		probably benign	Het
Prpf6	A	G	2: 181,632,076	M338V	probably benign	Het
Psg28	G	T	7: 18,422,922	L463I	probably damaging	Het
Ptprd	T	C	4: 76,128,655	D211G	probably benign	Het
Pus1	T	C	5: 110,776,558	H160R	not run	Het
Ranbp17	T	C	11: 33,329,511	T582A	probably damaging	Het
Rasa1	G	A	13: 85,223,488	T878I	possibly damaging	Het
Rbm20	A	G	19: 53,813,732	T224A	probably benign	Het
Scgb1b12	A	T	7: 32,334,495	N60I	probably damaging	Het
Sh3bp4	T	C	1: 89,145,022	S531P	probably benign	Het
Sh3pxd2b	TGCCTG	TGCCTGCGCCTG	11: 32,423,053		probably benign	Het
Snrnp200	T	C	2: 127,230,556	L1291P	probably damaging	Het
Sppl2a	C	T	2: 126,927,774	R54Q	probably benign	Het
Sulf2	A	T	2: 166,082,603	L521Q	probably benign	Het
Supv3l1	C	A	10: 62,437,508	V317F	possibly damaging	Het
Tcof1	TCC	TCCACTTGGCTGCTGAGATGGGCACTTTCCCAGAGACCC	18: 60,833,575		probably benign	Het
Thegl	CTCCCCAGTCCCGCAAGGCCAG	CTCCCCAGTCCCGCAAGGCCAGCGATCATCCCCAGTCCCGCAAGGCCAG	5: 77,016,408		probably benign	Het
Trappc9	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TGCTGCTGCTGCTGCCGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,801,289		probably benign	Het
Unc13b	CAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CAGAGCCAGAGCCAGAGCGAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,347		probably benign	Het
Unc13b	AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	AGCCAGAGCCAGAGCCAGCGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,350		probably benign	Het
Usp38	A	G	8: 81,013,893	S182P	probably benign	Het
Vmn2r24	T	C	6: 123,804,215	V460A	probably benign	Het
Zfp598	CAACCAC	CAACCACAACCAC	17: 24,680,771		probably benign	Het

Other mutations in Gins4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01376:Gins4	APN	8	23227327	missense	probably benign	0.38
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

Predicted Primers

PCR Primer
(F):5'- ACGACTGACTCTTTCCACCG -3'
(R):5'- GACTTTGCCAATGCTTATGGTG -3'

Sequencing Primer
(F):5'- CATCAAGCAAGTCAGACCTGGG -3'
(R):5'- ACTTTGCCAATGCTTATGGTGCTTAG -3'

Posted On

2019-12-04