Mutagenetix > Incidental Mutation

Incidental Mutation 'R9784:Stt3a'

734219

Institutional Source

Beutler Lab

Gene Symbol

Stt3a

Ensembl Gene

ENSMUSG00000032116

Gene Name

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

Synonyms

Itm1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R9784 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36640640-36678918 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36670079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 119 (L119Q)

Ref Sequence

ENSEMBL: ENSMUSP00000113116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120381] [ENSMUST00000128270] [ENSMUST00000133060] [ENSMUST00000217599]

AlphaFold

P46978

Predicted Effect

probably damaging
Transcript: ENSMUST00000120381
AA Change: L119Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113116
Gene: ENSMUSG00000032116
AA Change: L119Q

Domain	Start	End	E-Value	Type
Pfam:STT3	17	484	2e-163	PFAM
Pfam:PMT_2	97	257	9.3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128270

Predicted Effect

probably benign
Transcript: ENSMUST00000133060

SMART Domains

Protein: ENSMUSP00000120360
Gene: ENSMUSG00000032116

Domain	Start	End	E-Value	Type
Pfam:STT3	17	90	1.8e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135934

SMART Domains

Protein: ENSMUSP00000117794
Gene: ENSMUSG00000032116

Domain	Start	End	E-Value	Type
Pfam:STT3	1	112	1.8e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000217599

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.0%

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 the N-oligosaccharyltransferase (OST) complex, which functions in the endoplasmic reticulum to transfer glycan chains to asparagine residues of target proteins. A separate complex containing a similar catalytic subunit with an overlapping function also exists. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	G	A	5: 113,338,527 (GRCm39)	P495L	possibly damaging	Het
Acly	C	T	11: 100,389,112 (GRCm39)	A557T	probably benign	Het
Adgrl4	A	T	3: 151,214,948 (GRCm39)	T446S	probably damaging	Het
AK157302	A	G	13: 21,679,768 (GRCm39)	E98G	probably damaging	Het
Akap6	A	T	12: 53,187,853 (GRCm39)	T1756S	probably damaging	Het
Aldh1l1	A	G	6: 90,541,424 (GRCm39)	T273A	probably benign	Het
Aldh1l2	T	A	10: 83,342,614 (GRCm39)		probably null	Het
Alox12	T	C	11: 70,143,665 (GRCm39)	E201G	possibly damaging	Het
Arhgef16	A	G	4: 154,371,422 (GRCm39)	V257A	probably damaging	Het
Asxl3	C	T	18: 22,650,311 (GRCm39)	L767F	probably benign	Het
Atxn7l2	T	C	3: 108,110,565 (GRCm39)	K692R	probably null	Het
Btbd2	T	C	10: 80,484,481 (GRCm39)	D145G	probably damaging	Het
Cacna1b	A	T	2: 24,651,801 (GRCm39)	M126K	possibly damaging	Het
Cacna2d2	T	A	9: 107,404,346 (GRCm39)	C1081S	probably benign	Het
Cass4	T	C	2: 172,269,753 (GRCm39)	S612P	probably benign	Het
Cd209d	A	G	8: 3,926,337 (GRCm39)	S123P	probably damaging	Het
Cep112	T	C	11: 108,461,217 (GRCm39)	S665P	probably damaging	Het
Cnp	C	T	11: 100,467,437 (GRCm39)	R127W	probably damaging	Het
Col9a2	A	T	4: 120,898,226 (GRCm39)	D46V	unknown	Het
Cyp1a2	T	A	9: 57,587,562 (GRCm39)	N336I	probably benign	Het
Cyp2c37	A	G	19: 39,988,943 (GRCm39)	T301A	possibly damaging	Het
Dhtkd1	T	A	2: 5,935,622 (GRCm39)	E163D	probably benign	Het
Dido1	A	T	2: 180,325,354 (GRCm39)	F611L	probably benign	Het
Dnah9	T	A	11: 65,975,960 (GRCm39)	N1363I	probably damaging	Het
Drg2	A	G	11: 60,358,548 (GRCm39)	K331R	probably benign	Het
Fam171b	T	A	2: 83,690,787 (GRCm39)	I250K	probably damaging	Het
Fem1al	A	T	11: 29,775,253 (GRCm39)	V68E	probably damaging	Het
Fut8	T	A	12: 77,459,613 (GRCm39)	I242N	probably damaging	Het
Glyat	T	C	19: 12,628,844 (GRCm39)	V247A	probably benign	Het
Gucy2e	T	C	11: 69,123,516 (GRCm39)	N461S	probably benign	Het
Hif3a	T	A	7: 16,771,076 (GRCm39)	H627L	probably benign	Het
Ighv8-5	T	A	12: 115,031,228 (GRCm39)	T104S	probably benign	Het
Ighv8-9	C	T	12: 115,431,994 (GRCm39)	V106M	probably benign	Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Katna1	G	C	10: 7,638,590 (GRCm39)	E440D	probably null	Het
Kmt2c	T	C	5: 25,549,959 (GRCm39)	R1341G	probably damaging	Het
Krt14	C	T	11: 100,097,966 (GRCm39)	G106S	unknown	Het
Krt39	A	G	11: 99,409,188 (GRCm39)	C238R	possibly damaging	Het
Mak	C	T	13: 41,202,836 (GRCm39)	S204N	possibly damaging	Het
Map3k5	A	G	10: 19,810,812 (GRCm39)	Y154C	probably damaging	Het
Mgam	A	G	6: 40,736,024 (GRCm39)	Y841C	probably damaging	Het
Mgst1	A	T	6: 138,124,799 (GRCm39)	R38W	probably damaging	Het
Midn	A	G	10: 79,992,247 (GRCm39)	E433G	probably damaging	Het
Muc2	T	A	7: 141,280,785 (GRCm39)	C380*	probably null	Het
Nans	G	T	4: 46,499,129 (GRCm39)	K145N	possibly damaging	Het
Nbeal1	G	A	1: 60,299,741 (GRCm39)	W1359*	probably null	Het
Neo1	T	A	9: 58,889,503 (GRCm39)	E256V	probably benign	Het
Nkd1	C	A	8: 89,318,330 (GRCm39)	D322E	probably damaging	Het
Olfm4	T	C	14: 80,249,348 (GRCm39)	V155A	probably damaging	Het
Opa1	C	A	16: 29,437,029 (GRCm39)	S646*	probably null	Het
Or1p4-ps1	G	T	11: 74,208,709 (GRCm39)	C286F	unknown	Het
Or4f7	A	G	2: 111,644,604 (GRCm39)	S156P	probably damaging	Het
Or51ab3	T	A	7: 103,201,266 (GRCm39)	H91Q	probably benign	Het
Or52z1	T	A	7: 103,436,732 (GRCm39)	I251F	probably benign	Het
Or5b107	T	A	19: 13,142,813 (GRCm39)	L145Q	probably damaging	Het
Or5b12b	G	A	19: 12,861,874 (GRCm39)	V210M	probably benign	Het
Or7g29	A	T	9: 19,287,116 (GRCm39)	D20E	probably damaging	Het
Pcdh15	A	T	10: 74,467,212 (GRCm39)	H1743L	probably benign	Het
Ppp1r13b	T	C	12: 111,810,119 (GRCm39)	T230A	probably benign	Het
Ptf1a	G	T	2: 19,451,381 (GRCm39)	R237L	probably benign	Het
Ripk4	G	A	16: 97,549,306 (GRCm39)	P250L	possibly damaging	Het
Ropn1l	T	C	15: 31,453,649 (GRCm39)	H14R		Het
Setdb1	T	C	3: 95,233,173 (GRCm39)	S1122G	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc22a18	T	A	7: 143,046,678 (GRCm39)	M274K	probably benign	Het
Spink5	T	G	18: 44,119,490 (GRCm39)	F267C	probably damaging	Het
Stau1	T	C	2: 166,791,695 (GRCm39)	M481V	probably benign	Het
Stk39	C	T	2: 68,198,775 (GRCm39)	G281E	probably damaging	Het
Stx18	C	T	5: 38,196,635 (GRCm39)		probably benign	Het
Tgfbr3	G	T	5: 107,297,799 (GRCm39)	N200K	probably benign	Het
Timm8b	A	G	9: 50,516,273 (GRCm39)	E42G	probably benign	Het
Togaram1	T	A	12: 65,014,168 (GRCm39)	L473*	probably null	Het
Trappc12	A	G	12: 28,797,457 (GRCm39)	I25T	probably benign	Het
Trim33	T	C	3: 103,244,823 (GRCm39)	S737P	possibly damaging	Het
Trmt1	A	C	8: 85,424,330 (GRCm39)	H455P	probably damaging	Het
Trpc1	C	T	9: 95,599,646 (GRCm39)	R471H	possibly damaging	Het
Ttll2	T	A	17: 7,618,707 (GRCm39)	T407S	probably benign	Het
Unc45b	T	A	11: 82,816,986 (GRCm39)	N475K	probably damaging	Het
Usp48	T	A	4: 137,321,812 (GRCm39)	I40N	probably benign	Het
Wdr7	T	G	18: 64,037,236 (GRCm39)	V1220G	probably damaging	Het
Zfp830	C	T	11: 82,655,805 (GRCm39)	T203I	possibly damaging	Het
Zfp955a	T	A	17: 33,461,149 (GRCm39)	I328F	probably damaging	Het

Other mutations in Stt3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01866:Stt3a	APN	9	36,645,662 (GRCm39)	missense	probably benign	0.00
IGL02237:Stt3a	APN	9	36,660,933 (GRCm39)	nonsense	probably null
IGL02644:Stt3a	APN	9	36,663,649 (GRCm39)	missense	possibly damaging	0.70
IGL02710:Stt3a	APN	9	36,670,041 (GRCm39)	missense	probably damaging	0.99
IGL03085:Stt3a	APN	9	36,644,266 (GRCm39)	intron	probably benign
IGL03180:Stt3a	APN	9	36,670,552 (GRCm39)	missense	probably damaging	1.00
IGL03295:Stt3a	APN	9	36,674,627 (GRCm39)	splice site	probably null
Scramble	UTSW	9	36,646,762 (GRCm39)	missense	probably damaging	1.00
Western	UTSW	9	36,646,682 (GRCm39)	missense	probably damaging	1.00
R0314:Stt3a	UTSW	9	36,660,841 (GRCm39)	intron	probably benign
R0731:Stt3a	UTSW	9	36,646,808 (GRCm39)	missense	probably damaging	1.00
R1188:Stt3a	UTSW	9	36,662,636 (GRCm39)	missense	probably damaging	1.00
R1797:Stt3a	UTSW	9	36,654,711 (GRCm39)	critical splice donor site	probably null
R1846:Stt3a	UTSW	9	36,674,681 (GRCm39)	missense	probably damaging	1.00
R2152:Stt3a	UTSW	9	36,659,292 (GRCm39)	missense	probably damaging	1.00
R2220:Stt3a	UTSW	9	36,660,847 (GRCm39)	critical splice donor site	probably null
R2317:Stt3a	UTSW	9	36,659,371 (GRCm39)	missense	probably benign	0.08
R3689:Stt3a	UTSW	9	36,670,618 (GRCm39)	missense	probably damaging	1.00
R4299:Stt3a	UTSW	9	36,674,640 (GRCm39)	missense	probably damaging	1.00
R4586:Stt3a	UTSW	9	36,653,089 (GRCm39)	missense	probably damaging	1.00
R4595:Stt3a	UTSW	9	36,646,808 (GRCm39)	missense	probably damaging	1.00
R4689:Stt3a	UTSW	9	36,644,225 (GRCm39)	missense	possibly damaging	0.91
R4736:Stt3a	UTSW	9	36,661,008 (GRCm39)	missense	probably benign	0.01
R5145:Stt3a	UTSW	9	36,646,762 (GRCm39)	missense	probably damaging	1.00
R5208:Stt3a	UTSW	9	36,657,891 (GRCm39)	missense	possibly damaging	0.78
R5665:Stt3a	UTSW	9	36,670,610 (GRCm39)	missense	probably damaging	1.00
R5748:Stt3a	UTSW	9	36,663,696 (GRCm39)	missense	probably benign	0.21
R6341:Stt3a	UTSW	9	36,662,592 (GRCm39)	missense	probably damaging	1.00
R6853:Stt3a	UTSW	9	36,653,023 (GRCm39)	missense	possibly damaging	0.89
R6859:Stt3a	UTSW	9	36,646,682 (GRCm39)	missense	probably damaging	1.00
R7453:Stt3a	UTSW	9	36,659,266 (GRCm39)	missense	possibly damaging	0.91
R7495:Stt3a	UTSW	9	36,659,235 (GRCm39)	missense	probably benign	0.03
R7745:Stt3a	UTSW	9	36,662,535 (GRCm39)	nonsense	probably null
R8007:Stt3a	UTSW	9	36,653,065 (GRCm39)	missense	probably damaging	1.00
R9176:Stt3a	UTSW	9	36,662,592 (GRCm39)	missense	probably damaging	1.00
R9218:Stt3a	UTSW	9	36,670,556 (GRCm39)	missense	probably damaging	0.98
R9552:Stt3a	UTSW	9	36,645,675 (GRCm39)	missense	probably benign	0.00
R9622:Stt3a	UTSW	9	36,661,025 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AGAGGCATTTTGGAATTTAACTACC -3'
(R):5'- AGTATTTCTAATGGTTGGTCAAGACTT -3'

Sequencing Primer
(F):5'- TTGCCAGTCATGCAGTAAGC -3'
(R):5'- TCAAGACTTGGATTGATGCTTTC -3'

Posted On

2022-11-14