Mutagenetix > Incidental Mutation

Incidental Mutation 'R4926:St8sia5'

379072

Institutional Source

Beutler Lab

Gene Symbol

St8sia5

Ensembl Gene

ENSMUSG00000025425

Gene Name

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5

Synonyms

ST8SiaV, Siat8e

MMRRC Submission

042527-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R4926 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77273529-77343146 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77342478 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 396 (M396K)

Ref Sequence

ENSEMBL: ENSMUSP00000074764 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075290] [ENSMUST00000079618]

AlphaFold

P70126

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075290
AA Change: M396K

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074764
Gene: ENSMUSG00000025425
AA Change: M396K

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:Glyco_transf_29	152	407	6.4e-74	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079618
AA Change: M360K

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078566
Gene: ENSMUSG00000025425
AA Change: M360K

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:Glyco_transf_29	112	372	5.4e-79	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

99% (87/88)

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 type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 from GD1a, GT1b, GM1b, and GD3, respectively. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	T	9: 108,272,498 (GRCm39)	D136V	probably damaging	Het
Ankrd17	G	A	5: 90,447,891 (GRCm39)	R217W	probably damaging	Het
Ankrd23	A	T	1: 36,571,068 (GRCm39)	H102Q	probably damaging	Het
Arfip2	G	T	7: 105,287,151 (GRCm39)	R138S	probably damaging	Het
Arhgap27	A	T	11: 103,229,949 (GRCm39)		probably null	Het
Atg2a	T	C	19: 6,307,563 (GRCm39)	L1499P	probably damaging	Het
Bnc2	A	G	4: 84,194,416 (GRCm39)	S110P	probably damaging	Het
Ccdc171	T	C	4: 83,476,829 (GRCm39)		probably benign	Het
Ccdc7a	A	G	8: 129,706,535 (GRCm39)		probably benign	Het
Chd5	T	C	4: 152,467,768 (GRCm39)	S1689P	probably benign	Het
Corin	A	G	5: 72,529,525 (GRCm39)	C212R	probably damaging	Het
Cyp2c65	A	G	19: 39,049,597 (GRCm39)	I42V	probably benign	Het
Cyp3a25	G	A	5: 145,928,266 (GRCm39)	R260C	probably damaging	Het
Dock6	T	C	9: 21,757,087 (GRCm39)	Y116C	probably damaging	Het
Eif3a	A	G	19: 60,751,656 (GRCm39)		probably benign	Het
Epop	T	C	11: 97,519,143 (GRCm39)	D322G	probably damaging	Het
Eps8l3	T	A	3: 107,798,004 (GRCm39)		probably benign	Het
Exph5	T	C	9: 53,287,925 (GRCm39)	S1669P	possibly damaging	Het
Faah	A	T	4: 115,856,823 (GRCm39)		probably benign	Het
Fanca	A	G	8: 124,030,724 (GRCm39)	C453R	probably benign	Het
Fcgbp	T	A	7: 27,785,660 (GRCm39)	C366S	probably damaging	Het
Fmn2	A	G	1: 174,329,981 (GRCm39)	T124A	unknown	Het
Foxi3	C	T	6: 70,933,996 (GRCm39)	S161L	probably damaging	Het
Foxo3	A	T	10: 42,073,020 (GRCm39)	V499E	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gbgt1	T	C	2: 28,393,182 (GRCm39)	V90A	probably damaging	Het
Gm839	A	C	6: 89,189,581 (GRCm39)		noncoding transcript	Het
Gtf3c2	T	C	5: 31,326,467 (GRCm39)	E348G	possibly damaging	Het
Hnrnpm	G	T	17: 33,868,775 (GRCm39)	R551S	probably damaging	Het
Hspa1l	A	G	17: 35,197,199 (GRCm39)	T413A	possibly damaging	Het
Hspg2	T	C	4: 137,269,841 (GRCm39)	Y2297H	probably damaging	Het
Ighv1-81	T	A	12: 115,884,093 (GRCm39)	I53L	probably benign	Het
Kcnj11	C	T	7: 45,748,544 (GRCm39)	V260I	probably benign	Het
Krt84	A	G	15: 101,438,689 (GRCm39)	V266A	probably benign	Het
Lgals3bp	T	C	11: 118,284,781 (GRCm39)	Y266C	probably damaging	Het
Lrrc41	T	C	4: 115,946,521 (GRCm39)	V412A	possibly damaging	Het
Map4k4	A	T	1: 40,056,385 (GRCm39)	E1023D	probably damaging	Het
Mark3	T	A	12: 111,584,758 (GRCm39)	L118*	probably null	Het
Mrgpra9	T	A	7: 46,884,759 (GRCm39)	T303S	possibly damaging	Het
Mterf4	T	C	1: 93,232,647 (GRCm39)	E68G	probably benign	Het
Nckap5	A	C	1: 126,456,378 (GRCm39)		probably benign	Het
Nox3	T	A	17: 3,720,169 (GRCm39)	T339S	probably damaging	Het
Nrip2	A	C	6: 128,385,337 (GRCm39)	H256P	probably benign	Het
Oas1d	T	C	5: 121,053,831 (GRCm39)	V97A	probably benign	Het
Obox2	T	A	7: 15,131,102 (GRCm39)		probably null	Het
Opa1	T	C	16: 29,467,791 (GRCm39)	F989S	possibly damaging	Het
Or10g9	T	C	9: 39,912,319 (GRCm39)		probably null	Het
Padi1	T	A	4: 140,552,158 (GRCm39)	I429F	probably damaging	Het
Paics	A	G	5: 77,109,051 (GRCm39)	D163G	probably damaging	Het
Pik3c2b	G	T	1: 133,027,364 (GRCm39)	E1288*	probably null	Het
Prdm16	A	T	4: 154,426,009 (GRCm39)	V593D	possibly damaging	Het
Prpf39	A	G	12: 65,090,830 (GRCm39)	I165M	possibly damaging	Het
Pth2r	A	G	1: 65,361,143 (GRCm39)	T26A	probably benign	Het
Ptpn21	T	C	12: 98,681,454 (GRCm39)		probably null	Het
Rab44	C	T	17: 29,358,529 (GRCm39)	A239V	probably benign	Het
Rtcb	T	C	10: 85,791,600 (GRCm39)	N52S	probably benign	Het
Sapcd2	T	A	2: 25,263,578 (GRCm39)		probably null	Het
Scaf11	T	C	15: 96,316,123 (GRCm39)	E1147G	possibly damaging	Het
Selenoo	T	C	15: 88,983,881 (GRCm39)	Y595H	probably damaging	Het
Slc2a5	G	T	4: 150,205,199 (GRCm39)	E3*	probably null	Het
Snw1	A	G	12: 87,499,428 (GRCm39)	V391A	probably benign	Het
Sorbs2	A	G	8: 46,249,254 (GRCm39)	K755R	probably benign	Het
Sorbs3	G	T	14: 70,424,394 (GRCm39)	P513T	probably damaging	Het
Sowaha	T	A	11: 53,370,337 (GRCm39)	E133V	possibly damaging	Het
Srsf5	T	C	12: 80,994,075 (GRCm39)		probably benign	Het
Tcp11l1	T	C	2: 104,512,130 (GRCm39)	I501V	probably benign	Het
Tert	A	G	13: 73,796,508 (GRCm39)	K1080E	possibly damaging	Het
Tescl	T	A	7: 24,033,323 (GRCm39)	M1L	possibly damaging	Het
Thop1	T	A	10: 80,909,201 (GRCm39)		probably null	Het
Tmtc4	T	C	14: 123,210,618 (GRCm39)	H80R	probably damaging	Het
Toe1	C	T	4: 116,661,729 (GRCm39)	S480N	probably damaging	Het
Trap1	C	A	16: 3,863,352 (GRCm39)	V557F	probably benign	Het
Trim30d	T	C	7: 104,132,564 (GRCm39)	E91G	probably benign	Het
Ttf1	C	T	2: 28,954,668 (GRCm39)	H11Y	possibly damaging	Het
Ttll8	C	A	15: 88,798,368 (GRCm39)	G789V	probably damaging	Het
Ulk4	A	G	9: 121,087,798 (GRCm39)	F298S	probably benign	Het
Wwc1	C	T	11: 35,780,227 (GRCm39)	A243T	probably benign	Het
Zfp248	A	C	6: 118,406,787 (GRCm39)	H267Q	possibly damaging	Het
Zfyve26	T	A	12: 79,321,785 (GRCm39)	M945L	probably benign	Het
Zup1	T	C	10: 33,825,434 (GRCm39)	D16G	probably damaging	Het

Other mutations in St8sia5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:St8sia5	APN	18	77,342,358 (GRCm39)	missense	probably damaging	1.00
IGL01320:St8sia5	APN	18	77,342,318 (GRCm39)	missense	probably damaging	1.00
IGL01682:St8sia5	APN	18	77,336,196 (GRCm39)	missense	probably damaging	0.99
IGL01984:St8sia5	APN	18	77,336,157 (GRCm39)	missense	probably benign	0.03
ANU22:St8sia5	UTSW	18	77,342,358 (GRCm39)	missense	probably damaging	1.00
R0194:St8sia5	UTSW	18	77,342,420 (GRCm39)	missense	probably benign	0.13
R0392:St8sia5	UTSW	18	77,342,102 (GRCm39)	missense	probably damaging	1.00
R0622:St8sia5	UTSW	18	77,333,809 (GRCm39)	missense	probably damaging	1.00
R0696:St8sia5	UTSW	18	77,342,160 (GRCm39)	missense	probably damaging	1.00
R1231:St8sia5	UTSW	18	77,320,502 (GRCm39)	missense	probably damaging	0.97
R1559:St8sia5	UTSW	18	77,299,460 (GRCm39)	critical splice donor site	probably null
R2058:St8sia5	UTSW	18	77,342,459 (GRCm39)	missense	probably damaging	1.00
R2059:St8sia5	UTSW	18	77,342,459 (GRCm39)	missense	probably damaging	1.00
R2268:St8sia5	UTSW	18	77,320,526 (GRCm39)	missense	probably damaging	0.99
R4399:St8sia5	UTSW	18	77,340,714 (GRCm39)	missense	probably damaging	1.00
R5986:St8sia5	UTSW	18	77,342,478 (GRCm39)	missense	possibly damaging	0.84
R6301:St8sia5	UTSW	18	77,333,836 (GRCm39)	missense	probably damaging	0.98
R7020:St8sia5	UTSW	18	77,333,876 (GRCm39)	missense	probably damaging	0.97
R7087:St8sia5	UTSW	18	77,342,238 (GRCm39)	missense	possibly damaging	0.88
R7784:St8sia5	UTSW	18	77,342,246 (GRCm39)	missense	probably benign	0.36
R8037:St8sia5	UTSW	18	77,336,238 (GRCm39)	missense	possibly damaging	0.95
R8153:St8sia5	UTSW	18	77,340,807 (GRCm39)	critical splice donor site	probably null
R8544:St8sia5	UTSW	18	77,342,114 (GRCm39)	missense	probably damaging	1.00
R8858:St8sia5	UTSW	18	77,320,511 (GRCm39)	missense	probably benign	0.01
R8906:St8sia5	UTSW	18	77,336,172 (GRCm39)	missense	probably damaging	1.00
R8980:St8sia5	UTSW	18	77,333,761 (GRCm39)	critical splice acceptor site	probably null
R9294:St8sia5	UTSW	18	77,342,525 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTACCTGAGCAGTGTGTCG -3'
(R):5'- GACCTGGATCTGTGCTCTATC -3'

Sequencing Primer
(F):5'- GTATCAGCACCGGCCTCATC -3'
(R):5'- GATCTGTGCTCTATCCTGTTAAATG -3'

Posted On

2016-04-15