Mutagenetix > Incidental Mutation

Incidental Mutation 'R8371:Stt3b'

646395

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.816) question?

Stock #

R8371 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115242581-115310421 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115266175 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 263 (Y263H)

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: Y263H

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

SMART Domains

Protein: ENSMUSP00000035010
Gene: ENSMUSG00000032437
AA Change: Y263H

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	T	11: 110,054,647	Q1050K	probably benign	Het
B4galt5	A	G	2: 167,309,225	M121T	probably damaging	Het
Birc3	A	G	9: 7,849,426	L549P	probably damaging	Het
Cacna1b	T	C	2: 24,720,024	N368S	possibly damaging	Het
Cbr1	A	G	16: 93,609,891	E165G	probably damaging	Het
Ccdc178	T	C	18: 21,811,504	D866G	possibly damaging	Het
Cd40	G	A	2: 165,066,538	G178E	probably damaging	Het
Cers1	T	A	8: 70,329,573	L349H	probably benign	Het
Chd8	T	C	14: 52,232,818	K445R	probably benign	Het
Clca3a2	G	T	3: 144,807,353	S477*	probably null	Het
Clec4a1	T	A	6: 122,933,923	*246R	probably null	Het
CN725425	T	C	15: 91,240,770	I171T	probably benign	Het
Crybg3	A	G	16: 59,557,051	M1280T	probably benign	Het
Csf1r	A	T	18: 61,117,591	Q458L	probably benign	Het
Cyp3a11	A	T	5: 145,868,628	V193E	possibly damaging	Het
Cys1	A	G	12: 24,668,695	I53T	probably benign	Het
Dhrs3	A	C	4: 144,919,383		probably null	Het
Dhx57	T	C	17: 80,275,490	R229G	probably benign	Het
Dhx9	T	C	1: 153,456,215	N1336D	unknown	Het
Dmgdh	T	A	13: 93,708,730	H410Q	probably benign	Het
Dmxl1	T	A	18: 49,898,714	M2225K	probably benign	Het
Eif4g3	T	G	4: 138,096,845	Y80D	probably damaging	Het
Ephx4	A	T	5: 107,413,518	I164F	possibly damaging	Het
Eppk1	C	T	15: 76,110,119	R854Q	probably benign	Het
Fhl4	G	A	10: 85,098,773	A48V	probably benign	Het
Fmn2	T	C	1: 174,609,607	L1048S	unknown	Het
Gemin5	T	C	11: 58,126,558	M1212V	probably benign	Het
Gm9195	C	T	14: 72,460,459	V1294I	probably benign	Het
Gpr55	A	T	1: 85,941,127	V244E	probably damaging	Het
Hgfac	T	A	5: 35,045,443	F429Y	probably damaging	Het
Jade2	T	A	11: 51,825,132	E415D	probably benign	Het
Kcnj4	T	A	15: 79,485,141	I213F	probably damaging	Het
Kcnq5	G	A	1: 21,479,424	R360C	probably damaging	Het
Klhl33	C	T	14: 50,892,232	R312Q	probably damaging	Het
Krt82	T	C	15: 101,545,111	E280G	probably benign	Het
Lemd1	C	A	1: 132,228,949	Q40K	probably damaging	Het
Lmo7	T	C	14: 101,887,008	L423P	possibly damaging	Het
Lrp8	A	G	4: 107,869,071	Y773C	probably damaging	Het
Miga2	AAGAG	AAG	2: 30,375,743		probably null	Het
Mroh8	A	T	2: 157,252,976	Y363*	probably null	Het
Olfr135	G	A	17: 38,208,298	A18T	probably benign	Het
Olfr485	G	A	7: 108,159,228	T215I	probably benign	Het
Olfr559	C	A	7: 102,723,583	K302N	probably damaging	Het
Pcdha2	T	C	18: 36,940,263	Y316H	possibly damaging	Het
Pcdha6	T	A	18: 36,969,867	C704*	probably null	Het
Pik3c2g	G	A	6: 139,936,056	V923M	unknown	Het
Rhd	A	G	4: 134,876,383	S72G	probably benign	Het
Rhot1	T	C	11: 80,243,466	L295P	probably damaging	Het
Rrp1b	A	G	17: 32,049,484	E139G	possibly damaging	Het
Scnn1a	T	G	6: 125,343,843	Y620D	possibly damaging	Het
Serpinb12	A	T	1: 106,956,405	I294L	probably benign	Het
Serpinb3d	T	C	1: 107,080,739	D132G	probably damaging	Het
Slc26a3	A	T	12: 31,452,542	D254V	probably damaging	Het
Srrm1	A	T	4: 135,325,221	I614N	unknown	Het
Taf7	T	A	18: 37,643,499	K5I	probably damaging	Het
Tbck	C	A	3: 132,752,524	H638Q	possibly damaging	Het
Tnfsf9	A	C	17: 57,105,541	D37A	probably benign	Het
Trim71	C	A	9: 114,515,789	V354F	probably benign	Het
Tspoap1	T	G	11: 87,778,301	C1467G	probably benign	Het
Xirp1	C	T	9: 120,019,433	R128Q	possibly damaging	Het
Zc3h12d	GCCC	GCC	10: 7,839,971		probably null	Het
Zfhx2	T	C	14: 55,064,092	D2145G	probably damaging	Het
Zfy2	T	C	Y: 2,117,168	T220A	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
IGL01680:Stt3b	APN	9	115246261	splice site	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
supersonic	UTSW	9	115254017	missense	probably damaging	1.00
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
R8305:Stt3b	UTSW	9	115254931	missense	probably damaging	1.00
R8361:Stt3b	UTSW	9	115254920	missense	probably damaging	1.00
R8362:Stt3b	UTSW	9	115254920	missense	probably damaging	1.00
R8363:Stt3b	UTSW	9	115254920	missense	probably damaging	1.00
R8799:Stt3b	UTSW	9	115248617	missense	probably damaging	1.00
R8996:Stt3b	UTSW	9	115243997	missense	unknown
R9215:Stt3b	UTSW	9	115256155	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCATGTAATCAACACAAGGCAAG -3'
(R):5'- CTAACTTGAGCTATTCTCCATTGAG -3'

Sequencing Primer
(F):5'- TGTAATCAACACAAGGCAAGTTAAAC -3'
(R):5'- CTTGAGCTATTCTCCATTGAGTTTAG -3'

Posted On

2020-09-02