Mutagenetix > Incidental Mutation

Incidental Mutation 'R7065:Stt3b'

548527

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

045161-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.807) question?

Stock #

R7065 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115071649-115139489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115095224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 269 (L269P)

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: L269P

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

SMART Domains

Protein: ENSMUSP00000035010
Gene: ENSMUSG00000032437
AA Change: L269P

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

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
Abca1	G	T	4: 53,074,233 (GRCm39)	S1150Y	probably damaging	Het
Abca13	T	A	11: 9,242,595 (GRCm39)	V1486E	probably benign	Het
Abca17	T	A	17: 24,546,725 (GRCm39)	Y292F	probably damaging	Het
Adam3	A	G	8: 25,201,691 (GRCm39)		probably null	Het
Ankmy2	G	A	12: 36,237,707 (GRCm39)	E269K	probably damaging	Het
Cdan1	A	G	2: 120,549,402 (GRCm39)	S1201P	probably benign	Het
Cep57	T	C	9: 13,729,677 (GRCm39)	Y122C	probably damaging	Het
Cfh	T	A	1: 140,014,140 (GRCm39)	Y1210F	probably damaging	Het
Cflar	T	G	1: 58,770,368 (GRCm39)	L154V	probably damaging	Het
Chmp4b	A	G	2: 154,533,162 (GRCm39)	D134G	probably damaging	Het
Clec14a	A	G	12: 58,315,580 (GRCm39)	F14S	possibly damaging	Het
Ctnna1	A	T	18: 35,285,669 (GRCm39)	H5L	probably benign	Het
Cyp2e1	T	A	7: 140,343,906 (GRCm39)	L48Q	probably damaging	Het
Dnah6	T	G	6: 73,064,545 (GRCm39)	Q2627P	possibly damaging	Het
Ehmt1	T	C	2: 24,730,709 (GRCm39)	D569G	probably damaging	Het
Frmd4a	G	A	2: 4,570,923 (GRCm39)			Het
Fryl	T	C	5: 73,248,099 (GRCm39)	D1006G	probably damaging	Het
Gclm	A	G	3: 122,056,320 (GRCm39)	N137D	probably benign	Het
Gk5	A	G	9: 96,061,109 (GRCm39)	Y531C	probably damaging	Het
Gpm6a	C	A	8: 55,490,493 (GRCm39)	N56K	probably benign	Het
Grik4	A	C	9: 42,455,127 (GRCm39)	V656G	probably damaging	Het
Grip2	C	A	6: 91,760,550 (GRCm39)		probably null	Het
Gucy2c	T	C	6: 136,697,764 (GRCm39)	K636E	probably damaging	Het
Ifi44l	A	G	3: 151,465,429 (GRCm39)	I107T		Het
Kif1b	T	C	4: 149,286,982 (GRCm39)	T1237A	possibly damaging	Het
Klk1b11	A	G	7: 43,648,386 (GRCm39)	D131G	probably benign	Het
Lipe	A	G	7: 25,084,603 (GRCm39)		probably null	Het
Lrp4	A	G	2: 91,341,925 (GRCm39)	D1846G	probably damaging	Het
Madd	A	T	2: 90,985,402 (GRCm39)	M1273K	probably benign	Het
Matn3	T	A	12: 9,002,472 (GRCm39)	M228K	probably damaging	Het
Mterf4	T	A	1: 93,232,617 (GRCm39)	H78L	probably benign	Het
Ncoa4	T	A	14: 31,894,857 (GRCm39)	L128*	probably null	Het
Nedd4l	A	G	18: 65,329,040 (GRCm39)	N627S	probably benign	Het
Niban1	A	G	1: 151,575,858 (GRCm39)		probably null	Het
Nphp3	A	G	9: 103,919,189 (GRCm39)	Y1279C	probably damaging	Het
Nrp1	C	A	8: 129,187,193 (GRCm39)	T413N	probably benign	Het
Opn4	C	A	14: 34,317,834 (GRCm39)	A267S	probably benign	Het
Or4c11c	A	T	2: 88,661,730 (GRCm39)	I90F	probably damaging	Het
Or5ak24	A	G	2: 85,260,523 (GRCm39)	Y217H	probably damaging	Het
Or5al6	A	C	2: 85,976,345 (GRCm39)	H244Q	probably damaging	Het
Or5p78	G	A	7: 108,212,266 (GRCm39)	V251I	probably damaging	Het
Pax3	T	C	1: 78,170,648 (GRCm39)		probably null	Het
Pcdha12	A	G	18: 37,154,679 (GRCm39)	E466G	probably damaging	Het
Pdzk1	A	G	3: 96,775,748 (GRCm39)	E372G	probably benign	Het
Pigs	T	A	11: 78,227,565 (GRCm39)	V243D	possibly damaging	Het
Pla2g5	C	A	4: 138,527,915 (GRCm39)	C117F	probably damaging	Het
Ppt2	A	G	17: 34,841,829 (GRCm39)	S236P	probably damaging	Het
Raver1	T	C	9: 21,001,590 (GRCm39)	D81G	probably benign	Het
Rpgrip1	T	C	14: 52,378,650 (GRCm39)	L525P	possibly damaging	Het
Ryr1	T	C	7: 28,803,068 (GRCm39)	E662G	probably damaging	Het
Scaf8	G	A	17: 3,209,486 (GRCm39)	V66M	probably damaging	Het
Scn3a	A	C	2: 65,295,199 (GRCm39)	L1508R	probably benign	Het
Semp2l2b	T	C	10: 21,943,197 (GRCm39)	D261G	probably benign	Het
Slfn8	T	C	11: 82,907,794 (GRCm39)	R250G	probably benign	Het
Speer4d	A	C	5: 15,825,421 (GRCm39)	T49P	probably damaging	Het
Spice1	T	A	16: 44,175,898 (GRCm39)	D32E	probably damaging	Het
Ttn	A	G	2: 76,628,456 (GRCm39)	I14568T	possibly damaging	Het
U2surp	T	C	9: 95,367,712 (GRCm39)	T413A	probably benign	Het
Ubr3	A	G	2: 69,784,049 (GRCm39)	E755G	probably damaging	Het
Unc5a	A	T	13: 55,138,896 (GRCm39)	S92C	probably damaging	Het
Zfat	T	C	15: 68,052,969 (GRCm39)	Y275C	probably damaging	Het
Zfp874a	A	T	13: 67,590,401 (GRCm39)	S428T	probably damaging	Het
Zfy1	A	G	Y: 725,428 (GRCm39)	V779A	probably benign	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
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
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'- TTTTGGGGCAATCTCCCTGC -3'
(R):5'- TGGGATCATCAGTAAAACAGTCC -3'

Sequencing Primer
(F):5'- CAGGGTGTCATGTAATCAACAC -3'
(R):5'- TAGGAGCCATGAGTCTGA -3'

Posted On

2019-05-13