Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01680:Stt3b'

103786

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stt3b

Ensembl Gene

ENSMUSG00000032437

Gene Name

STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)

Synonyms

1300006C19Rik, Simp

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.858) question?

Stock #

IGL01680

Quality Score

Status

Chromosome

Chromosomal Location

115242581-115310421 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 115246261 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000035010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035010]

Predicted Effect

probably benign
Transcript: ENSMUST00000035010

SMART Domains

Protein: ENSMUSP00000035010
Gene: ENSMUSG00000032437

Domain	Start	End	E-Value	Type
low complexity region	40	60	N/A	INTRINSIC
Pfam:STT3	68	560	2e-151	PFAM
low complexity region	807	821	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a catalytic subunit of a protein complex that transfers oligosaccharides onto asparagine residues. Defects in this gene are a cause of congenital disorder of glycosylation Ix (CDG1X). [provided by RefSeq, Jun 2014]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	C	17: 57,402,620	W121R	unknown	Het
Adprh	C	T	16: 38,450,216	G76S	possibly damaging	Het
Arhgap31	T	C	16: 38,603,614	T697A	probably benign	Het
Ces2f	T	C	8: 104,954,073	M489T	probably benign	Het
Clec5a	A	G	6: 40,584,380	Y44H	probably benign	Het
Csmd3	T	C	15: 47,970,030	H950R	probably damaging	Het
Dgkz	G	T	2: 91,935,865	P784T	probably benign	Het
Dok1	T	C	6: 83,031,312	D463G	possibly damaging	Het
Eif4a2	C	A	16: 23,109,191	Q94K	probably benign	Het
Epg5	T	C	18: 78,012,741	L1710P	probably damaging	Het
Fam45a	A	G	19: 60,817,534	T86A	possibly damaging	Het
Fign	A	G	2: 63,978,644		probably benign	Het
Gbp10	T	C	5: 105,224,271		probably null	Het
Gga2	G	T	7: 121,998,076	D363E	probably benign	Het
Glis2	T	A	16: 4,611,331	F133I	possibly damaging	Het
Isg20	A	G	7: 78,916,585	D94G	probably damaging	Het
Kif23	T	C	9: 61,931,814	D319G	probably benign	Het
Lbr	C	A	1: 181,836,194	R87L	probably damaging	Het
Map3k9	T	C	12: 81,724,739	T715A	probably benign	Het
Mapk14	T	C	17: 28,725,846		probably null	Het
Mpp4	A	C	1: 59,130,067	C341W	probably benign	Het
Mroh9	C	T	1: 163,047,982		probably null	Het
Myo16	T	C	8: 10,272,630	V20A	probably damaging	Het
Olfr1120	T	C	2: 87,357,905	S154P	probably damaging	Het
Olfr371	A	T	8: 85,230,679	L61F	probably benign	Het
Olfr551	A	T	7: 102,588,229	C171*	probably null	Het
Pofut2	C	T	10: 77,263,293	R186W	probably damaging	Het
Ppp1r1b	T	A	11: 98,350,566		probably null	Het
Slc34a2	A	G	5: 53,060,876	I166V	probably damaging	Het
Slc4a2	A	G	5: 24,432,930	T375A	probably benign	Het
Slitrk5	C	A	14: 111,679,000	H19N	probably benign	Het
Sptb	T	A	12: 76,630,682	Q126L	probably damaging	Het
Stoml1	T	C	9: 58,256,713	V105A	probably damaging	Het
Thbs4	T	C	13: 92,776,980	E144G	probably benign	Het
Tns3	A	G	11: 8,548,937	Y49H	probably damaging	Het
Vmn2r87	C	T	10: 130,479,717	W160*	probably null	Het
Zfp647	T	A	15: 76,917,768		probably benign	Het

Other mutations in Stt3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Stt3b	APN	9	115251847	missense	probably benign	0.42
IGL00929:Stt3b	APN	9	115266165	missense	probably damaging	1.00
IGL01333:Stt3b	APN	9	115257544	missense	probably damaging	0.97
IGL01389:Stt3b	APN	9	115253900	missense	probably benign
IGL01980:Stt3b	APN	9	115276699	splice site	probably null
IGL02351:Stt3b	APN	9	115250907	missense	possibly damaging	0.90
IGL02358:Stt3b	APN	9	115250907	missense	possibly damaging	0.90
IGL02421:Stt3b	APN	9	115251852	splice site	probably benign
IGL02602:Stt3b	APN	9	115276778	missense	probably damaging	1.00
IGL03231:Stt3b	APN	9	115243994	missense	unknown
R0482:Stt3b	UTSW	9	115248567	missense	probably benign	0.10
R1221:Stt3b	UTSW	9	115257499	missense	probably benign	0.00
R1437:Stt3b	UTSW	9	115254927	missense	probably damaging	1.00
R1477:Stt3b	UTSW	9	115266192	missense	probably damaging	1.00
R1604:Stt3b	UTSW	9	115250927	missense	probably damaging	1.00
R1796:Stt3b	UTSW	9	115248607	nonsense	probably null
R4112:Stt3b	UTSW	9	115266138	missense	probably damaging	1.00
R4166:Stt3b	UTSW	9	115254901	missense	probably damaging	1.00
R4695:Stt3b	UTSW	9	115254794	missense	probably damaging	1.00
R5183:Stt3b	UTSW	9	115266143	missense	probably damaging	0.99
R5317:Stt3b	UTSW	9	115252510	nonsense	probably null
R5631:Stt3b	UTSW	9	115254845	missense	probably benign	0.05
R5665:Stt3b	UTSW	9	115266147	missense	probably damaging	1.00
R6495:Stt3b	UTSW	9	115267320	missense	possibly damaging	0.46
R6517:Stt3b	UTSW	9	115267342	missense	probably benign
R6525:Stt3b	UTSW	9	115258558	missense	probably damaging	1.00
R6593:Stt3b	UTSW	9	115252511	missense	probably damaging	0.99
R7065:Stt3b	UTSW	9	115266156	missense	probably damaging	1.00
R7071:Stt3b	UTSW	9	115254017	missense	probably damaging	1.00
R7297:Stt3b	UTSW	9	115276957	missense	probably damaging	1.00
R7313:Stt3b	UTSW	9	115266115	missense	probably damaging	0.99
R7554:Stt3b	UTSW	9	115280409	critical splice donor site	probably null
R7790:Stt3b	UTSW	9	115276819	missense	probably damaging	1.00
R7802:Stt3b	UTSW	9	115276881	missense	probably damaging	1.00

Posted On

2014-01-21