Mutagenetix > Incidental Mutation

Incidental Mutation 'R4695:Stt3b'

355636

Institutional Source

Beutler Lab

Gene Symbol

Stt3b

Ensembl Gene

ENSMUSG00000032437

Gene Name

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

Synonyms

1300006C19Rik, Simp

MMRRC Submission

042016-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.807) question?

Stock #

R4695 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115071649-115139489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115083862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 438 (V438E)

Ref Sequence

ENSEMBL: ENSMUSP00000035010 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000035010
AA Change: V438E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035010
Gene: ENSMUSG00000032437
AA Change: V438E

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

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts10	T	A	17: 33,750,713 (GRCm39)	M251K	possibly damaging	Het
Adcy2	A	T	13: 68,875,962 (GRCm39)	H513Q	possibly damaging	Het
Afg2a	T	G	3: 37,512,474 (GRCm39)	F713C	probably damaging	Het
Ahctf1	A	G	1: 179,580,619 (GRCm39)	L1861P	possibly damaging	Het
Apc2	C	A	10: 80,146,877 (GRCm39)	R615S	probably damaging	Het
Arhgap45	A	C	10: 79,861,364 (GRCm39)	D509A	probably damaging	Het
Atp6v1c2	T	C	12: 17,351,208 (GRCm39)	T108A	probably benign	Het
Blm	T	A	7: 80,143,976 (GRCm39)	D821V	probably damaging	Het
C3	T	A	17: 57,528,057 (GRCm39)	I721L	probably benign	Het
Ccdc13	A	T	9: 121,649,826 (GRCm39)	V207E	probably damaging	Het
Ccndbp1	C	T	2: 120,845,208 (GRCm39)		probably benign	Het
Cd180	A	C	13: 102,842,268 (GRCm39)	Q438P	probably benign	Het
Cd248	C	T	19: 5,118,473 (GRCm39)	T107M	probably damaging	Het
Cdan1	G	A	2: 120,558,864 (GRCm39)	R445C	probably damaging	Het
Cic	C	A	7: 24,973,013 (GRCm39)	H915N	possibly damaging	Het
Cox8c	T	C	12: 102,865,742 (GRCm39)	S40P	possibly damaging	Het
Cyp2d34	A	T	15: 82,501,092 (GRCm39)	C347S	probably benign	Het
Dhx30	A	T	9: 109,914,356 (GRCm39)	F974I	probably damaging	Het
Dlec1	A	T	9: 118,972,221 (GRCm39)	T1414S	probably benign	Het
Dlg2	C	A	7: 92,087,170 (GRCm39)		probably null	Het
Dynlt5	T	A	4: 102,861,426 (GRCm39)	I136K	probably damaging	Het
Dzip1l	T	A	9: 99,529,258 (GRCm39)	M329K	probably benign	Het
Dzip3	A	T	16: 48,771,924 (GRCm39)	L582I	probably damaging	Het
Emilin2	T	C	17: 71,559,773 (GRCm39)	Y1068C	probably damaging	Het
Fam221b	T	A	4: 43,659,622 (GRCm39)		probably null	Het
Fbxw22	A	G	9: 109,207,939 (GRCm39)	I444T	probably damaging	Het
Flnc	T	A	6: 29,440,428 (GRCm39)	N245K	probably damaging	Het
Fnip1	T	A	11: 54,390,245 (GRCm39)	I380N	probably damaging	Het
Gbf1	C	T	19: 46,247,606 (GRCm39)	R181*	probably null	Het
Igkv6-17	T	A	6: 70,348,486 (GRCm39)	F12I	probably benign	Het
Itln1	C	A	1: 171,358,645 (GRCm39)	G174V	probably damaging	Het
Lrrc52	A	G	1: 167,293,660 (GRCm39)		probably null	Het
LTO1	T	C	7: 144,482,715 (GRCm39)		probably null	Het
Matn2	A	G	15: 34,403,071 (GRCm39)	Y432C	probably damaging	Het
Metap1d	A	G	2: 71,355,305 (GRCm39)	*336W	probably null	Het
Mgam2-ps	T	A	6: 40,779,489 (GRCm39)		noncoding transcript	Het
Mrps9	T	A	1: 42,901,675 (GRCm39)	V61D	possibly damaging	Het
Myh7b	T	C	2: 155,456,097 (GRCm39)	Y161H	probably damaging	Het
Myh9	T	A	15: 77,653,053 (GRCm39)	D1428V	probably damaging	Het
N4bp3	A	T	11: 51,535,306 (GRCm39)		probably null	Het
Nat9	T	A	11: 115,075,416 (GRCm39)	Q75L	probably benign	Het
Nop2	T	C	6: 125,121,519 (GRCm39)	V767A	probably benign	Het
Ntrk2	A	G	13: 59,274,307 (GRCm39)	K728E	probably damaging	Het
Or51e1	T	G	7: 102,358,764 (GRCm39)	C99W	probably damaging	Het
Or5p72	G	A	7: 108,022,196 (GRCm39)	M139I	probably benign	Het
Or7g21	T	A	9: 19,032,306 (GRCm39)	H15Q	probably null	Het
Pcdhgb2	A	G	18: 37,825,375 (GRCm39)	T789A	probably benign	Het
Pcyt2	T	C	11: 120,502,000 (GRCm39)	D321G	probably benign	Het
Rad9a	G	A	19: 4,250,560 (GRCm39)	R85C	probably damaging	Het
Rbbp8	A	T	18: 11,854,839 (GRCm39)	K355*	probably null	Het
Rhag	T	C	17: 41,147,358 (GRCm39)	Y407H	probably damaging	Het
Robo4	G	A	9: 37,314,495 (GRCm39)	V161M	probably damaging	Het
Rpl27-ps3	C	A	18: 6,332,922 (GRCm39)	N97K	probably benign	Het
Slc45a4	A	G	15: 73,453,924 (GRCm39)	I691T	possibly damaging	Het
Slc9a9	A	T	9: 94,818,502 (GRCm39)		probably benign	Het
Stard13	A	G	5: 150,984,280 (GRCm39)	F619L	probably benign	Het
Tacr3	C	T	3: 134,535,182 (GRCm39)	T50I	probably benign	Het
Tacr3	G	T	3: 134,635,690 (GRCm39)	C298F	probably damaging	Het
Taok3	C	T	5: 117,366,131 (GRCm39)	T394M	probably benign	Het
Tgfb1i1	A	G	7: 127,848,348 (GRCm39)	D128G	probably damaging	Het
Tgfbr3l	G	T	8: 4,300,574 (GRCm39)	V251L	probably benign	Het
Tom1l2	C	G	11: 60,161,259 (GRCm39)	R84P	probably damaging	Het
Top3a	A	G	11: 60,633,238 (GRCm39)	S953P	probably benign	Het
Trappc10	T	C	10: 78,033,697 (GRCm39)	K957E	probably damaging	Het
Ttn	T	A	2: 76,565,668 (GRCm39)	E28228V	probably damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vdr	A	T	15: 97,756,801 (GRCm39)		probably null	Het
Zfp42	A	T	8: 43,749,168 (GRCm39)	L111Q	probably damaging	Het

Other mutations in Stt3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Stt3b	APN	9	115,080,915 (GRCm39)	missense	probably benign	0.42
IGL00929:Stt3b	APN	9	115,095,233 (GRCm39)	missense	probably damaging	1.00
IGL01333:Stt3b	APN	9	115,086,612 (GRCm39)	missense	probably damaging	0.97
IGL01389:Stt3b	APN	9	115,082,968 (GRCm39)	missense	probably benign
IGL01680:Stt3b	APN	9	115,075,329 (GRCm39)	splice site	probably benign
IGL01980:Stt3b	APN	9	115,105,767 (GRCm39)	splice site	probably null
IGL02351:Stt3b	APN	9	115,079,975 (GRCm39)	missense	possibly damaging	0.90
IGL02358:Stt3b	APN	9	115,079,975 (GRCm39)	missense	possibly damaging	0.90
IGL02421:Stt3b	APN	9	115,080,920 (GRCm39)	splice site	probably benign
IGL02602:Stt3b	APN	9	115,105,846 (GRCm39)	missense	probably damaging	1.00
IGL03231:Stt3b	APN	9	115,073,062 (GRCm39)	missense	unknown
supersonic	UTSW	9	115,083,085 (GRCm39)	missense	probably damaging	1.00
R0482:Stt3b	UTSW	9	115,077,635 (GRCm39)	missense	probably benign	0.10
R1221:Stt3b	UTSW	9	115,086,567 (GRCm39)	missense	probably benign	0.00
R1437:Stt3b	UTSW	9	115,083,995 (GRCm39)	missense	probably damaging	1.00
R1477:Stt3b	UTSW	9	115,095,260 (GRCm39)	missense	probably damaging	1.00
R1604:Stt3b	UTSW	9	115,079,995 (GRCm39)	missense	probably damaging	1.00
R1796:Stt3b	UTSW	9	115,077,675 (GRCm39)	nonsense	probably null
R4112:Stt3b	UTSW	9	115,095,206 (GRCm39)	missense	probably damaging	1.00
R4166:Stt3b	UTSW	9	115,083,969 (GRCm39)	missense	probably damaging	1.00
R5183:Stt3b	UTSW	9	115,095,211 (GRCm39)	missense	probably damaging	0.99
R5317:Stt3b	UTSW	9	115,081,578 (GRCm39)	nonsense	probably null
R5631:Stt3b	UTSW	9	115,083,913 (GRCm39)	missense	probably benign	0.05
R5665:Stt3b	UTSW	9	115,095,215 (GRCm39)	missense	probably damaging	1.00
R6495:Stt3b	UTSW	9	115,096,388 (GRCm39)	missense	possibly damaging	0.46
R6517:Stt3b	UTSW	9	115,096,410 (GRCm39)	missense	probably benign
R6525:Stt3b	UTSW	9	115,087,626 (GRCm39)	missense	probably damaging	1.00
R6593:Stt3b	UTSW	9	115,081,579 (GRCm39)	missense	probably damaging	0.99
R7065:Stt3b	UTSW	9	115,095,224 (GRCm39)	missense	probably damaging	1.00
R7071:Stt3b	UTSW	9	115,083,085 (GRCm39)	missense	probably damaging	1.00
R7297:Stt3b	UTSW	9	115,106,025 (GRCm39)	missense	probably damaging	1.00
R7313:Stt3b	UTSW	9	115,095,183 (GRCm39)	missense	probably damaging	0.99
R7554:Stt3b	UTSW	9	115,109,477 (GRCm39)	critical splice donor site	probably null
R7790:Stt3b	UTSW	9	115,105,887 (GRCm39)	missense	probably damaging	1.00
R7802:Stt3b	UTSW	9	115,105,949 (GRCm39)	missense	probably damaging	1.00
R8305:Stt3b	UTSW	9	115,083,999 (GRCm39)	missense	probably damaging	1.00
R8361:Stt3b	UTSW	9	115,083,988 (GRCm39)	missense	probably damaging	1.00
R8362:Stt3b	UTSW	9	115,083,988 (GRCm39)	missense	probably damaging	1.00
R8363:Stt3b	UTSW	9	115,083,988 (GRCm39)	missense	probably damaging	1.00
R8371:Stt3b	UTSW	9	115,095,243 (GRCm39)	missense	probably damaging	1.00
R8799:Stt3b	UTSW	9	115,077,685 (GRCm39)	missense	probably damaging	1.00
R8996:Stt3b	UTSW	9	115,073,065 (GRCm39)	missense	unknown
R9215:Stt3b	UTSW	9	115,085,223 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCAAGGAGGTCATGGGCTG -3'
(R):5'- AGGAGCTCCTGTTTTATCCTTTAACTG -3'

Sequencing Primer
(F):5'- TCATGGGCTGGACGTAAAG -3'
(R):5'- CGACATGGGTGTCTTTCT -3'

Posted On

2015-10-21