Mutagenetix > Incidental Mutation

Incidental Mutation 'R1796:Stt3b'

202275

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

039826-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.807) question?

Stock #

R1796 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115071649-115139489 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 115077675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 692 (Y692*)

Ref Sequence

ENSEMBL: ENSMUSP00000035010 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000035010
AA Change: Y692*

SMART Domains

Protein: ENSMUSP00000035010
Gene: ENSMUSG00000032437
AA Change: Y692*

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: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	G	A	12: 84,662,156 (GRCm39)	S30F	probably benign	Het
Abtb1	T	C	6: 88,813,601 (GRCm39)	D379G	possibly damaging	Het
Adgre1	A	G	17: 57,748,350 (GRCm39)	I517V	probably benign	Het
Ajm1	C	T	2: 25,468,000 (GRCm39)	G637D	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Angpt4	G	A	2: 151,780,909 (GRCm39)	V386M	probably damaging	Het
Asic1	A	G	15: 99,594,535 (GRCm39)	H360R	probably null	Het
Asxl1	G	A	2: 153,243,526 (GRCm39)	A1359T	probably benign	Het
Atp8a2	C	T	14: 60,258,207 (GRCm39)		probably null	Het
Bltp3a	T	C	17: 28,109,045 (GRCm39)	F1088S	possibly damaging	Het
C1qtnf2	T	A	11: 43,382,114 (GRCm39)	F279I	probably damaging	Het
Car8	A	T	4: 8,221,671 (GRCm39)	L100*	probably null	Het
Cd52	T	C	4: 133,822,295 (GRCm39)	M1V	probably null	Het
Celf5	T	C	10: 81,303,053 (GRCm39)	I163V	possibly damaging	Het
Cep250	A	T	2: 155,834,107 (GRCm39)	T2010S	possibly damaging	Het
Cfap65	C	T	1: 74,958,107 (GRCm39)	V934M	probably damaging	Het
Colec11	A	T	12: 28,644,858 (GRCm39)	I212N	probably damaging	Het
Cpa3	C	T	3: 20,277,391 (GRCm39)		probably null	Het
Ctnnd1	G	T	2: 84,445,553 (GRCm39)	H495N	probably damaging	Het
Cyb5a	T	C	18: 84,869,686 (GRCm39)	V28A	probably benign	Het
Ddo	A	T	10: 40,523,625 (GRCm39)	Q205L	probably benign	Het
Dnah1	T	A	14: 30,983,050 (GRCm39)	N4195I	probably benign	Het
E2f1	A	T	2: 154,402,849 (GRCm39)	V306E	probably benign	Het
Ece1	C	T	4: 137,685,312 (GRCm39)	R601W	probably damaging	Het
Eef1d	A	C	15: 75,773,024 (GRCm39)	F25C	probably damaging	Het
Ehd3	A	T	17: 74,137,354 (GRCm39)	I508F	probably damaging	Het
Eml6	T	A	11: 29,831,975 (GRCm39)	I232F	probably benign	Het
Enc1	T	A	13: 97,382,991 (GRCm39)	D500E	probably benign	Het
Enc1	C	A	13: 97,382,993 (GRCm39)	T501K	possibly damaging	Het
Fam83f	C	T	15: 80,574,283 (GRCm39)	R213W	possibly damaging	Het
Fbxo31	A	T	8: 122,287,177 (GRCm39)	L158*	probably null	Het
Fcgbpl1	C	T	7: 27,854,797 (GRCm39)	P1808S	probably damaging	Het
Foxi3	C	A	6: 70,937,794 (GRCm39)	T342N	possibly damaging	Het
Gpr179	T	A	11: 97,227,382 (GRCm39)	D1591V	possibly damaging	Het
Gpsm2	A	G	3: 108,609,166 (GRCm39)	V151A	probably damaging	Het
Grk2	T	G	19: 4,337,968 (GRCm39)	I513L	probably benign	Het
H2-Ab1	A	G	17: 34,486,346 (GRCm39)	E135G	probably damaging	Het
Herc1	A	T	9: 66,296,138 (GRCm39)	K578*	probably null	Het
Hycc1	T	G	5: 24,191,149 (GRCm39)	T173P	probably damaging	Het
Itpr2	T	C	6: 146,198,171 (GRCm39)	N1533S	probably benign	Het
Kif3c	A	G	12: 3,417,299 (GRCm39)	N440S	probably benign	Het
Klhdc2	T	C	12: 69,347,071 (GRCm39)		probably null	Het
Kmo	G	T	1: 175,465,461 (GRCm39)	V72L	probably benign	Het
Krt71	A	G	15: 101,651,315 (GRCm39)	I56T	possibly damaging	Het
Krt72	T	C	15: 101,689,987 (GRCm39)		probably null	Het
Krt78	T	A	15: 101,859,300 (GRCm39)	Q299L	probably damaging	Het
Loxhd1	C	T	18: 77,493,603 (GRCm39)	R1521C	probably damaging	Het
Loxhd1	G	A	18: 77,513,335 (GRCm39)	E1774K	possibly damaging	Het
Ly6g6f	T	C	17: 35,302,478 (GRCm39)	S20G	probably benign	Het
Mecr	T	A	4: 131,592,382 (GRCm39)	M282K	probably damaging	Het
Mfsd14a	G	T	3: 116,428,596 (GRCm39)	A353D	probably damaging	Het
Mroh9	A	T	1: 162,873,279 (GRCm39)	N564K	probably damaging	Het
Mrs2	T	A	13: 25,181,111 (GRCm39)	T237S	possibly damaging	Het
Mycbpap	A	G	11: 94,398,377 (GRCm39)	L534S	probably damaging	Het
Myh1	T	C	11: 67,115,183 (GRCm39)	I1906T	probably benign	Het
Myh4	T	A	11: 67,151,150 (GRCm39)	V1935D	probably benign	Het
Myo18a	T	C	11: 77,720,170 (GRCm39)	I684T	possibly damaging	Het
Myo7b	C	T	18: 32,119,728 (GRCm39)	R788H	possibly damaging	Het
Nbea	A	T	3: 55,551,129 (GRCm39)	D2678E	possibly damaging	Het
Ndufs3	A	C	2: 90,729,050 (GRCm39)	Y145*	probably null	Het
Nrros	A	G	16: 31,962,329 (GRCm39)	F563L	probably damaging	Het
Ntn4	T	C	10: 93,581,633 (GRCm39)	V602A	probably damaging	Het
Obscn	C	A	11: 58,920,163 (GRCm39)	R6736L	possibly damaging	Het
Odr4	T	C	1: 150,251,305 (GRCm39)	N283S	probably benign	Het
Or13c7d	T	A	4: 43,770,495 (GRCm39)	D172V	possibly damaging	Het
Or2ag16	T	C	7: 106,351,756 (GRCm39)	I280V	probably benign	Het
Or7g22	C	A	9: 19,049,213 (GRCm39)	T308K	probably benign	Het
Or8d1	T	A	9: 38,766,820 (GRCm39)	V154D	probably benign	Het
Or8g54	C	T	9: 39,707,301 (GRCm39)	P210L	possibly damaging	Het
Or8g55	A	G	9: 39,785,267 (GRCm39)	E232G	probably benign	Het
Pik3cd	A	G	4: 149,738,576 (GRCm39)	F751L	possibly damaging	Het
Plekhh2	A	G	17: 84,906,561 (GRCm39)		probably null	Het
Postn	A	G	3: 54,281,177 (GRCm39)	H434R	probably damaging	Het
Prss39	A	G	1: 34,539,114 (GRCm39)	D118G	possibly damaging	Het
Ralyl	G	T	3: 14,208,493 (GRCm39)	G211V	possibly damaging	Het
Rbak	T	A	5: 143,159,202 (GRCm39)	E617V	probably damaging	Het
Rbms3	A	T	9: 116,548,401 (GRCm39)	W80R	probably damaging	Het
Retnlg	A	T	16: 48,694,610 (GRCm39)	Y86F	probably benign	Het
Rtel1	T	A	2: 180,993,896 (GRCm39)	S643T	probably benign	Het
Semp2l2a	A	T	8: 13,886,816 (GRCm39)	L425*	probably null	Het
Serpina11	A	T	12: 103,950,954 (GRCm39)	F256I	probably damaging	Het
Setd2	A	T	9: 110,379,413 (GRCm39)	Y1076F	probably benign	Het
Setd2	A	T	9: 110,446,884 (GRCm39)		probably null	Het
Sgsm1	T	C	5: 113,421,483 (GRCm39)	T248A	possibly damaging	Het
Slc6a21	T	C	7: 44,930,179 (GRCm39)	Y193H	probably damaging	Het
Slfn9	T	C	11: 82,872,781 (GRCm39)	K652E	probably benign	Het
Sval3	A	G	6: 41,945,096 (GRCm39)	Q8R	probably benign	Het
Synm	T	A	7: 67,383,748 (GRCm39)	I1305F	possibly damaging	Het
Tdrd1	T	C	19: 56,826,215 (GRCm39)	F169L	probably damaging	Het
Tecta	T	A	9: 42,295,493 (GRCm39)	D334V	probably damaging	Het
Tle2	G	A	10: 81,425,331 (GRCm39)		probably null	Het
Tmem243	A	G	5: 9,166,489 (GRCm39)	I30V	probably benign	Het
Treml2	T	C	17: 48,616,530 (GRCm39)	*330R	probably null	Het
Trpm6	A	G	19: 18,804,931 (GRCm39)	D961G	possibly damaging	Het
Ubr4	T	C	4: 139,155,907 (GRCm39)	V2244A	probably benign	Het
Unc79	G	T	12: 103,109,005 (GRCm39)	V2148F	probably damaging	Het
Ush2a	A	C	1: 188,643,024 (GRCm39)	T4129P	probably benign	Het
Vgll2	G	A	10: 51,901,324 (GRCm39)	V85I	probably damaging	Het
Vmn1r16	T	C	6: 57,300,256 (GRCm39)	Y122C	probably benign	Het
Vmn1r22	A	T	6: 57,877,134 (GRCm39)	I91N	probably damaging	Het
Vmn2r70	A	T	7: 85,213,011 (GRCm39)	Y465*	probably null	Het
Wdr64	A	T	1: 175,544,897 (GRCm39)	E110V	probably damaging	Het
Wfdc6a	A	T	2: 164,422,231 (GRCm39)	C123S	probably damaging	Het
Xrcc1	A	G	7: 24,247,252 (GRCm39)	Y30C	probably damaging	Het
Zdhhc7	T	C	8: 120,812,157 (GRCm39)	K155R	probably benign	Het
Zfp560	A	G	9: 20,263,226 (GRCm39)	F50S	possibly damaging	Het
Zfp616	C	T	11: 73,976,671 (GRCm39)	T980I	probably damaging	Het
Zfp808	C	T	13: 62,319,670 (GRCm39)	P300S	probably damaging	Het
Zfp979	G	A	4: 147,697,740 (GRCm39)	T323I	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
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
R4695:Stt3b	UTSW	9	115,083,862 (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'- CTGCATACATCTCTCCACAGG -3'
(R):5'- AAGGATGTGGAGCTAGCTCTAG -3'

Sequencing Primer
(F):5'- CAGGAGAATTAAGACATGATTAGTCC -3'
(R):5'- GACATGTAGTCGGTCTTGGTC -3'

Nature of Mutation

    ATCCGGGAAGGTGACTATTTCACCCAGCAGGGA

687 -I--R--E--G--D--Y--F--T--Q--Q--G-

Genotyping

NOTE: These primers have not been validated.

Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the single nucleotide transversion.

PCR Primers

R17960072_PCR_F: 5’- CTGCATACATCTCTCCACAGG-3’

R17960072_PCR_R: 5’- AAGGATGTGGAGCTAGCTCTAG-3’

Sequencing Primers

R17960072_SEQ_F: 5’- CAGGAGAATTAAGACATGATTAGTCC-3’ 

R17960072_SEQ_R: 5’- GACATGTAGTCGGTCTTGGTC-3’ 

PCR program

1) 94°C 2:00

2) 94°C 0:30

3) 55°C 0:30

4) 72°C 1:00

5) repeat steps (2-4) 40X

6) 72°C 10:00

7) 4°C hold

The following sequence of 428 nucleotides is amplified (NCBI RefSeq: NC_000075, chromosome 9):

ctgcatacat ctctccacag gagaattaag acatgattag tccaagtttt taagagatga

gtaaggtccc cttcccattt gattaagaat tatagaagaa ctcaattgaa ccaacctgca

tttctccaaa tctgtagtat gacattttat acataaggca gtttaacaga gtaggagacc

cagctttgtc tactcggaac tctccctgct gggtgaaata gtcaccttcc tgtgggaaga

aaccacaaat tcagtgtcag tccaccttgg tgtacccaaa gctacaggcg ctagctctgg

agacagcatc atgaaattat actcttttta atcccccagc cccaaaatta atcctgtcag

atttatagcc tcacagttaa aaagaccaag accgactaca tgtcagctag agctagctcc

acatcctt

Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. + strand, A>T; T>A, sense strand).

Posted On

2014-06-23