Mutagenetix > Incidental Mutations

Incidental Mutation 'R1604:Stt3b'

176343

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

039641-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.590) question?

Stock #

R1604 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115242581-115310421 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115250927 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 639 (E639G)

Ref Sequence

ENSEMBL: ENSMUSP00000035010 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000035010
AA Change: E639G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035010
Gene: ENSMUSG00000032437
AA Change: E639G

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: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.1%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810041L15Rik	T	C	15: 84,406,471	M212V	probably benign	Het
Aldoart2	A	G	12: 55,565,620	D110G	probably damaging	Het
Angptl2	T	C	2: 33,243,773	M369T	possibly damaging	Het
Anks3	C	T	16: 4,948,253	V151M	probably damaging	Het
Arl6ip6	T	C	2: 53,192,496	L125P	probably damaging	Het
Bmp1	T	C	14: 70,508,004	Q247R	possibly damaging	Het
Ccdc30	A	G	4: 119,331,596	I491T	probably damaging	Het
Cdhr1	T	A	14: 37,095,093	I104F	probably benign	Het
Cdk17	G	T	10: 93,232,498	M372I	probably damaging	Het
Cyp2c54	A	G	19: 40,070,343	V215A	probably benign	Het
D430041D05Rik	T	A	2: 104,205,142	I1614F	probably damaging	Het
Ddx55	A	G	5: 124,559,306	N244D	probably damaging	Het
Dopey2	G	T	16: 93,762,570	V617F	probably benign	Het
Erbb4	G	T	1: 68,346,569	A287E	possibly damaging	Het
Fmnl2	A	G	2: 53,105,537	E424G	probably damaging	Het
Gad2	T	C	2: 22,623,840		probably null	Het
Gm17421	G	A	12: 113,369,535		noncoding transcript	Het
Gm9894	T	A	13: 67,764,889		noncoding transcript	Het
Gnpat	T	C	8: 124,876,961	S193P	probably damaging	Het
Gpr20	C	T	15: 73,696,004	V179M	probably damaging	Het
Hdgf	T	A	3: 87,914,040		probably null	Het
Itgb8	A	T	12: 119,202,530	L89M	probably damaging	Het
Lnx2	T	C	5: 147,029,325	D328G	probably benign	Het
Lrguk	A	G	6: 34,072,370	T341A	possibly damaging	Het
Map1b	A	G	13: 99,429,572	S2214P	unknown	Het
Mms22l	T	C	4: 24,502,804	F131L	probably damaging	Het
Msmo1	A	G	8: 64,727,655	I75T	probably damaging	Het
Olfr444	G	A	6: 42,955,716	A73T	possibly damaging	Het
Olfr639	G	T	7: 104,011,955	A249E	probably damaging	Het
Olfr891	A	G	9: 38,180,349	V158A	probably benign	Het
Olfr924	T	G	9: 38,848,704	F197V	probably benign	Het
Olfr934	A	T	9: 38,982,618	M142K	probably benign	Het
Pkhd1l1	C	T	15: 44,467,367	R113*	probably null	Het
Polr2m	T	C	9: 71,483,677	D81G	probably damaging	Het
Ppp1r15b	T	A	1: 133,132,549	M268K	probably benign	Het
Ptprcap	T	A	19: 4,156,074	L52*	probably null	Het
Rasgrp2	C	T	19: 6,407,057	T277I	possibly damaging	Het
Rrbp1	T	C	2: 143,989,390	N286D	probably damaging	Het
Scml2	G	T	X: 161,231,446	E566D	possibly damaging	Het
Scrib	A	C	15: 76,048,240	S1557A	probably damaging	Het
Sergef	C	A	7: 46,443,359	V409L	probably benign	Het
Slc6a13	A	G	6: 121,332,369	M280V	probably benign	Het
Slc9a8	C	T	2: 167,471,432	P409S	probably benign	Het
Smarca4	CGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGG	9: 21,700,943		probably benign	Het
Spc25	T	C	2: 69,205,154	D4G	probably damaging	Het
Specc1	C	T	11: 62,043,057	R88C	probably damaging	Het
Srsf11	C	T	3: 158,019,311		probably null	Het
Sult3a1	A	C	10: 33,866,620	E81A	probably damaging	Het
Taf1b	G	A	12: 24,556,624	G481D	probably benign	Het
Tgm4	T	C	9: 123,045,064	V123A	probably benign	Het
Tie1	G	T	4: 118,474,407	H973N	probably damaging	Het
Tmem117	C	T	15: 95,094,544	R362W	probably damaging	Het
Txnip	A	T	3: 96,558,961	Q107L	probably benign	Het
Ubap2	C	T	4: 41,199,872	A752T	probably benign	Het
Vcan	A	G	13: 89,689,661	V1628A	probably benign	Het
Vmn2r115	T	A	17: 23,345,271	M139K	probably benign	Het
Wwp1	A	G	4: 19,659,709	V193A	probably benign	Het
Zcchc8	C	T	5: 123,700,658	A606T	probably benign	Het
Zfp131	G	A	13: 119,768,780	L371F	probably damaging	Het
Zfp518b	T	C	5: 38,673,606	D352G	probably damaging	Het
Zfp784	A	G	7: 5,036,454		probably benign	Het
Zfp940	A	T	7: 29,846,075	F136I	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
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
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
R6592:Stt3b	UTSW	9	115252511	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCTTTCACAGACAAGCTGCTACC -3'
(R):5'- GTTATGGAAATCACAGGCCAGGCTC -3'

Sequencing Primer
(F):5'- AGGCTTCCAAATCCGAAGTG -3'
(R):5'- GGAGAAAACTGTCTCTGAATGCTTG -3'

Posted On

2014-04-24