Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02071:Sugt1'

185806

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sugt1

Ensembl Gene

ENSMUSG00000022024

Gene Name

SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)

Synonyms

2410174K12Rik, SGT1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02071

Quality Score

Status

Chromosome

Chromosomal Location

79825100-79868237 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 79847723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 191 (L191*)

Ref Sequence

ENSEMBL: ENSMUSP00000052942 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054908]

AlphaFold

Q9CX34

Predicted Effect

probably null
Transcript: ENSMUST00000054908
AA Change: L191*

SMART Domains

Protein: ENSMUSP00000052942
Gene: ENSMUSG00000022024
AA Change: L191*

Domain	Start	End	E-Value	Type
Pfam:TPR_11	18	76	6.9e-14	PFAM
Pfam:TPR_9	24	53	7.1e-3	PFAM
Pfam:TPR_17	33	66	6.1e-7	PFAM
Pfam:TPR_1	45	78	1.2e-7	PFAM
Pfam:TPR_2	45	78	1.2e-6	PFAM
Pfam:TPR_8	45	78	2.3e-4	PFAM
Blast:TPR	80	112	1e-11	BLAST
Pfam:CS	143	219	5.9e-24	PFAM
Pfam:SGS	256	336	1.5e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228675

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a highly conserved nuclear protein involved in kinetochore function and required for the G1/S and G2/M transitions. This protein interacts with heat shock protein 90. Alternative splicing results in multiple transcript variants. Pseudogenes for this gene have been defined on several different chromosomes. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous null embryos die prior to E8.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,400,676 (GRCm39)	R92C	probably damaging	Het
Adam29	C	A	8: 56,324,589 (GRCm39)	V622L	possibly damaging	Het
Bzw2	T	C	12: 36,157,502 (GRCm39)	H321R	probably benign	Het
C2cd2	C	T	16: 97,671,432 (GRCm39)	R489Q	probably damaging	Het
Cdh23	G	A	10: 60,359,339 (GRCm39)	T253I	possibly damaging	Het
Col4a3	T	G	1: 82,638,608 (GRCm39)		probably null	Het
D630039A03Rik	T	C	4: 57,910,309 (GRCm39)	T168A	possibly damaging	Het
Dnajc19	A	G	3: 34,132,914 (GRCm39)	L97P	possibly damaging	Het
Dpep2	A	T	8: 106,711,776 (GRCm39)	H550Q	probably benign	Het
Dvl2	C	A	11: 69,895,626 (GRCm39)		probably null	Het
Fam234b	A	G	6: 135,204,149 (GRCm39)		probably null	Het
Fxyd5	A	G	7: 30,739,613 (GRCm39)	V32A	possibly damaging	Het
Itprid1	C	A	6: 55,944,710 (GRCm39)	S477*	probably null	Het
Mak16	A	T	8: 31,650,557 (GRCm39)	S251T	probably benign	Het
Med10	T	C	13: 69,963,747 (GRCm39)	V116A	probably benign	Het
Mycbp2	G	A	14: 103,392,343 (GRCm39)	R50*	probably null	Het
Nckap5	G	A	1: 125,909,305 (GRCm39)	P272L	probably damaging	Het
Nf1	T	A	11: 79,334,947 (GRCm39)	V933E	possibly damaging	Het
Nrxn2	T	A	19: 6,531,783 (GRCm39)	V749E	probably damaging	Het
Or51e2	A	C	7: 102,391,355 (GRCm39)	V285G	probably damaging	Het
Or5al1	C	A	2: 85,990,219 (GRCm39)	R165L	probably benign	Het
Osbpl9	T	C	4: 108,929,176 (GRCm39)	Y417C	probably damaging	Het
Otop1	G	A	5: 38,445,327 (GRCm39)	A162T	probably damaging	Het
Patl1	C	A	19: 11,917,054 (GRCm39)	P634T	probably damaging	Het
Ppl	A	T	16: 4,930,936 (GRCm39)	S28T	probably benign	Het
Prkar2b	C	T	12: 32,013,016 (GRCm39)	G367R	probably damaging	Het
Rbl2	G	A	8: 91,828,826 (GRCm39)	V576I	probably damaging	Het
Rgl3	C	T	9: 21,899,559 (GRCm39)	A53T	probably benign	Het
Rp1	T	A	1: 4,415,533 (GRCm39)	I1860F	possibly damaging	Het
Sbno2	A	T	10: 79,896,475 (GRCm39)	D877E	probably damaging	Het
Sectm1b	C	T	11: 120,946,761 (GRCm39)	V45I	probably damaging	Het
Sfmbt2	G	A	2: 10,582,763 (GRCm39)	V741I	probably benign	Het
Tcf21	A	T	10: 22,693,709 (GRCm39)	V156E	possibly damaging	Het
Tep1	T	A	14: 51,071,506 (GRCm39)	R2046S	possibly damaging	Het
Tmem181a	T	C	17: 6,347,531 (GRCm39)	F241S	probably damaging	Het
Traf6	G	A	2: 101,527,138 (GRCm39)	C296Y	probably benign	Het
Trim40	A	G	17: 37,200,070 (GRCm39)	S3P	probably benign	Het
Ttll2	A	T	17: 7,619,130 (GRCm39)	Y266N	probably damaging	Het
Vps54	A	G	11: 21,225,071 (GRCm39)	N177S	probably null	Het

Other mutations in Sugt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01624:Sugt1	APN	14	79,834,230 (GRCm39)	missense	probably benign	0.01
IGL02417:Sugt1	APN	14	79,847,698 (GRCm39)	missense	probably benign	0.00
IGL03205:Sugt1	APN	14	79,834,241 (GRCm39)	missense	probably damaging	1.00
R0680:Sugt1	UTSW	14	79,847,751 (GRCm39)	missense	possibly damaging	0.86
R1506:Sugt1	UTSW	14	79,862,365 (GRCm39)	missense	probably benign	0.21
R1636:Sugt1	UTSW	14	79,825,422 (GRCm39)	missense	probably benign
R1863:Sugt1	UTSW	14	79,846,434 (GRCm39)	missense	probably damaging	1.00
R5253:Sugt1	UTSW	14	79,840,341 (GRCm39)	critical splice donor site	probably null
R5870:Sugt1	UTSW	14	79,846,451 (GRCm39)	missense	probably benign	0.11
R6370:Sugt1	UTSW	14	79,847,774 (GRCm39)	missense	probably benign	0.14
R6657:Sugt1	UTSW	14	79,844,701 (GRCm39)	missense	probably benign
R6967:Sugt1	UTSW	14	79,834,847 (GRCm39)	missense	probably benign	0.25
R7429:Sugt1	UTSW	14	79,857,241 (GRCm39)	critical splice donor site	probably null
R7430:Sugt1	UTSW	14	79,857,241 (GRCm39)	critical splice donor site	probably null
R9027:Sugt1	UTSW	14	79,825,155 (GRCm39)	start gained	probably benign
R9072:Sugt1	UTSW	14	79,866,293 (GRCm39)	missense	possibly damaging	0.64
R9073:Sugt1	UTSW	14	79,866,293 (GRCm39)	missense	possibly damaging	0.64
R9384:Sugt1	UTSW	14	79,866,388 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07