Mutagenetix > Incidental Mutation

Incidental Mutation 'R1671:Gmnn'

187634

Institutional Source

Beutler Lab

Gene Symbol

Gmnn

Ensembl Gene

ENSMUSG00000006715

Gene Name

geminin

Synonyms

Gem

MMRRC Submission

039707-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1671 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24935828-24945906 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to T at 24936054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 207 (*207R)

Ref Sequence

ENSEMBL: ENSMUSP00000106011 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006898] [ENSMUST00000110382] [ENSMUST00000175689] [ENSMUST00000176890] [ENSMUST00000177253]

AlphaFold

O88513

Predicted Effect

probably null
Transcript: ENSMUST00000006898
AA Change: *207R

SMART Domains

Protein: ENSMUSP00000006898
Gene: ENSMUSG00000006715
AA Change: *207R

Domain	Start	End	E-Value	Type
Pfam:Geminin	1	187	1.4e-91	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110382
AA Change: *207R

SMART Domains

Protein: ENSMUSP00000106011
Gene: ENSMUSG00000006715
AA Change: *207R

Domain	Start	End	E-Value	Type
Pfam:Geminin	1	186	8.3e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175689

SMART Domains

Protein: ENSMUSP00000135823
Gene: ENSMUSG00000006715

Domain	Start	End	E-Value	Type
Pfam:Geminin	1	187	6.4e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176890

SMART Domains

Protein: ENSMUSP00000135006
Gene: ENSMUSG00000006715

Domain	Start	End	E-Value	Type
Pfam:Geminin	1	167	4.1e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177253

Meta Mutation Damage Score

0.8655

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that plays a critical role in cell cycle regulation. The encoded protein inhibits DNA replication by binding to DNA replication factor Cdt1, preventing the incorporation of minichromosome maintenance proteins into the pre-replication complex. The encoded protein is expressed during the S and G2 phases of the cell cycle and is degraded by the anaphase-promoting complex during the metaphase-anaphase transition. Increased expression of this gene may play a role in several malignancies including colon, rectal and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and two pseudogenes of this gene are located on the short arm of chromosome 16. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit early embryonic lethality, defective inner cell mass formation, and endoreduplication. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	C	14: 64,210,637 (GRCm39)	L197R	probably benign	Het
Arglu1	A	G	8: 8,733,896 (GRCm39)	V140A	possibly damaging	Het
Arhgef28	T	C	13: 98,067,542 (GRCm39)	E1461G	possibly damaging	Het
Best3	A	T	10: 116,860,573 (GRCm39)	D611V	possibly damaging	Het
Cenpf	T	C	1: 189,411,341 (GRCm39)		probably null	Het
Cenpj	A	C	14: 56,802,502 (GRCm39)	M21R	probably damaging	Het
Cltc	A	T	11: 86,623,421 (GRCm39)	H201Q	possibly damaging	Het
Col28a1	A	T	6: 8,083,773 (GRCm39)	N561K	possibly damaging	Het
Cyp2c70	G	A	19: 40,142,081 (GRCm39)	P470L	probably damaging	Het
Cyp4f14	G	A	17: 33,135,883 (GRCm39)		probably benign	Het
Ddi1	A	T	9: 6,266,225 (GRCm39)	V48D	possibly damaging	Het
Dnah11	A	C	12: 117,880,523 (GRCm39)	Y3866D	probably damaging	Het
Dnah9	A	G	11: 65,818,789 (GRCm39)	V3183A	probably damaging	Het
Elmo1	T	A	13: 20,472,054 (GRCm39)		probably benign	Het
Fap	T	A	2: 62,384,179 (GRCm39)	Y9F	possibly damaging	Het
Fbxo15	T	A	18: 84,977,231 (GRCm39)	S93T	possibly damaging	Het
Gal3st2	C	T	1: 93,801,400 (GRCm39)	R19C	probably damaging	Het
Gucy1a1	A	C	3: 82,013,529 (GRCm39)	I371S	probably damaging	Het
H1f11-ps	C	A	19: 47,159,294 (GRCm39)	V94L	possibly damaging	Het
Igsf10	G	T	3: 59,235,921 (GRCm39)	S1420*	probably null	Het
Itih5	G	T	2: 10,191,782 (GRCm39)	V106L	probably benign	Het
Itsn1	T	A	16: 91,609,038 (GRCm39)	I201K	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lars2	C	T	9: 123,247,344 (GRCm39)	T283I	probably benign	Het
Loxhd1	T	C	18: 77,492,498 (GRCm39)	I1313T	probably damaging	Het
Mamdc4	T	A	2: 25,458,235 (GRCm39)	R368*	probably null	Het
Mdga1	A	T	17: 30,069,603 (GRCm39)	Y422N	probably damaging	Het
Mro	A	T	18: 74,003,126 (GRCm39)		probably benign	Het
Mroh2b	T	C	15: 4,980,776 (GRCm39)		probably null	Het
Nlrp1b	C	A	11: 71,092,085 (GRCm39)	V14L	probably benign	Het
Nos3	A	G	5: 24,588,838 (GRCm39)	D1157G	probably damaging	Het
Nrxn2	C	A	19: 6,523,780 (GRCm39)	R598S	probably damaging	Het
Or2av9	A	T	11: 58,381,435 (GRCm39)	W49R	possibly damaging	Het
Or4k1	T	C	14: 50,377,290 (GRCm39)	K269E	probably damaging	Het
Or52ae9	C	A	7: 103,389,617 (GRCm39)	A277S	possibly damaging	Het
Or8b101	A	G	9: 38,020,428 (GRCm39)	M144V	probably benign	Het
Otog	A	T	7: 45,911,210 (GRCm39)	D687V	probably damaging	Het
Pcsk5	C	T	19: 17,432,232 (GRCm39)	C1461Y	probably damaging	Het
Raet1d	A	G	10: 22,238,614 (GRCm39)	M1V	probably null	Het
Rnf6	A	T	5: 146,147,998 (GRCm39)	L340*	probably null	Het
Rsl1d1	T	C	16: 11,019,245 (GRCm39)	T99A	probably damaging	Het
Sbno1	A	T	5: 124,530,130 (GRCm39)		probably null	Het
Sipa1l1	A	G	12: 82,444,235 (GRCm39)	Y982C	probably damaging	Het
Sorbs3	G	T	14: 70,428,915 (GRCm39)	R417S	possibly damaging	Het
Sorl1	A	G	9: 41,885,296 (GRCm39)	C2102R	probably damaging	Het
Sp140l2	C	T	1: 85,235,106 (GRCm39)		probably null	Het
Sptbn1	T	A	11: 30,092,245 (GRCm39)	I494F	possibly damaging	Het
Tank	T	A	2: 61,480,097 (GRCm39)	V211E	probably damaging	Het
Tbcd	T	A	11: 121,488,120 (GRCm39)	D840E	probably benign	Het
Tg	T	A	15: 66,564,236 (GRCm39)	C1146S	possibly damaging	Het
Tiam2	A	T	17: 3,557,109 (GRCm39)	E110V	probably damaging	Het
Tle4	A	T	19: 14,431,103 (GRCm39)	W560R	probably damaging	Het
Triml2	G	A	8: 43,636,780 (GRCm39)	R76H	possibly damaging	Het
Ttn	T	C	2: 76,541,964 (GRCm39)	E25347G	probably damaging	Het
Ube2e2	A	G	14: 18,586,889 (GRCm38)	L124P	probably damaging	Het
Vmn2r81	A	G	10: 79,103,265 (GRCm39)	K153E	probably benign	Het
Wnt16	A	T	6: 22,298,178 (GRCm39)	Y348F	probably damaging	Het
Xpo6	A	G	7: 125,707,715 (GRCm39)	V897A	possibly damaging	Het
Zbtb26	T	C	2: 37,326,377 (GRCm39)	T220A	probably benign	Het
Zik1	A	T	7: 10,224,675 (GRCm39)	S141T	probably damaging	Het
Zkscan3	A	G	13: 21,580,305 (GRCm39)	Y128H	possibly damaging	Het

Other mutations in Gmnn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Gmnn	APN	13	24,936,105 (GRCm39)	missense	probably benign	0.30
IGL01657:Gmnn	APN	13	24,937,687 (GRCm39)	missense	probably damaging	1.00
IGL02614:Gmnn	APN	13	24,944,137 (GRCm39)	splice site	probably benign
R1513:Gmnn	UTSW	13	24,940,615 (GRCm39)	missense	possibly damaging	0.94
R2184:Gmnn	UTSW	13	24,937,706 (GRCm39)	missense	probably damaging	1.00
R5435:Gmnn	UTSW	13	24,936,084 (GRCm39)	missense	probably benign	0.01
R8489:Gmnn	UTSW	13	24,941,614 (GRCm39)	missense	probably damaging	1.00
R9015:Gmnn	UTSW	13	24,940,638 (GRCm39)	missense	probably benign	0.23
R9255:Gmnn	UTSW	13	24,937,351 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TCTCCACGACATACAATGTTCAACAGG -3'
(R):5'- TCCAGGTAGTATGGAGCTAACACACAG -3'

Sequencing Primer
(F):5'- ATACAATGTTCAACAGGAAATTGAAG -3'
(R):5'- AACACACAGTTCTGTGGGTC -3'

Posted On

2014-05-09