Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02756:St3gal5'

306444

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

St3gal5

Ensembl Gene

ENSMUSG00000056091

Gene Name

ST3 beta-galactoside alpha-2,3-sialyltransferase 5

Synonyms

GM3 synthase, GM3-specific sialytransferase, 3S-T, [a]2, ST3Gal V, mST3Gal V, Siat9

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL02756

Quality Score

Status

Chromosome

Chromosomal Location

72074576-72131555 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72126157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 307 (D307G)

Ref Sequence

ENSEMBL: ENSMUSP00000109747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069994] [ENSMUST00000114112]

AlphaFold

O88829

Predicted Effect

probably null
Transcript: ENSMUST00000069994
AA Change: D334G

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000070414
Gene: ENSMUSG00000056091
AA Change: D334G

Domain	Start	End	E-Value	Type
transmembrane domain	66	88	N/A	INTRINSIC
Pfam:Glyco_transf_29	141	411	3e-66	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000114112
AA Change: D307G

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109747
Gene: ENSMUSG00000056091
AA Change: D307G

Domain	Start	End	E-Value	Type
transmembrane domain	39	61	N/A	INTRINSIC
Pfam:Glyco_transf_29	111	385	4.9e-71	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000187007

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted inactivation of this gene leads to inability to synthesize GM3 ganglioside. Homozygotes for a null allele exhibit enhanced sensitivity to insulin. Homozygotes for a different null allele show resistance to botulinum neurotoxin type C. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	T	10: 87,000,970 (GRCm39)	D54V	probably damaging	Het
Adamts18	C	A	8: 114,440,976 (GRCm39)		probably benign	Het
Angptl3	T	A	4: 98,919,399 (GRCm39)	L53Q	probably damaging	Het
Apc	A	G	18: 34,447,588 (GRCm39)	T1461A	probably damaging	Het
Arl11	T	A	14: 61,548,535 (GRCm39)	V115D	probably damaging	Het
Cabp4	C	A	19: 4,188,560 (GRCm39)	V173L	possibly damaging	Het
Casq1	T	A	1: 172,042,672 (GRCm39)	D230V	probably damaging	Het
Cdc42bpa	A	G	1: 179,936,824 (GRCm39)	I821V	possibly damaging	Het
Cfap65	T	C	1: 74,944,239 (GRCm39)	Y1494C	probably benign	Het
Chd1	T	A	17: 15,951,069 (GRCm39)	S215T	probably damaging	Het
Csf2rb2	T	C	15: 78,169,049 (GRCm39)	E593G	possibly damaging	Het
Cstf1	A	G	2: 172,217,795 (GRCm39)	D136G	probably damaging	Het
Ddx19b	T	C	8: 111,737,910 (GRCm39)		probably benign	Het
Dido1	A	T	2: 180,303,716 (GRCm39)	L1396Q	probably benign	Het
Ermn	A	G	2: 57,937,824 (GRCm39)	I263T	probably damaging	Het
F12	T	A	13: 55,568,880 (GRCm39)	Q294L	possibly damaging	Het
Far2	A	T	6: 148,058,889 (GRCm39)	I192F	probably damaging	Het
Fshb	T	A	2: 106,889,218 (GRCm39)	I29F	probably damaging	Het
Gcgr	T	A	11: 120,427,811 (GRCm39)	Y251N	probably benign	Het
Gpr158	A	G	2: 21,831,890 (GRCm39)	I997V	possibly damaging	Het
Gprc5d	A	G	6: 135,093,613 (GRCm39)	V98A	probably damaging	Het
H2-T23	T	C	17: 36,342,580 (GRCm39)	E186G	probably damaging	Het
Khdrbs3	C	T	15: 68,896,685 (GRCm39)	T115I	probably benign	Het
Kifap3	C	T	1: 163,689,597 (GRCm39)	T527M	probably damaging	Het
Mfsd2a	C	T	4: 122,842,332 (GRCm39)	A512T	probably benign	Het
Mmp9	A	G	2: 164,791,235 (GRCm39)	D135G	probably benign	Het
Mylk	T	C	16: 34,784,016 (GRCm39)	V1394A	probably benign	Het
Nek9	A	C	12: 85,358,110 (GRCm39)		probably null	Het
Or51q1c	T	C	7: 103,652,866 (GRCm39)	I128T	probably damaging	Het
Or8k16	T	C	2: 85,520,402 (GRCm39)	S210P	probably damaging	Het
P2rx2	T	A	5: 110,490,276 (GRCm39)		probably benign	Het
P4htm	A	G	9: 108,456,977 (GRCm39)	L410P	probably damaging	Het
Pik3c2a	A	T	7: 115,963,748 (GRCm39)	W921R	probably benign	Het
Pnisr	T	C	4: 21,862,175 (GRCm39)	F288L	probably benign	Het
Ppp4r3a	C	T	12: 101,024,582 (GRCm39)		probably null	Het
Prss34	T	C	17: 25,518,251 (GRCm39)	S144P	probably damaging	Het
Qrsl1	T	C	10: 43,758,110 (GRCm39)	T328A	probably benign	Het
Rab33b	A	T	3: 51,391,945 (GRCm39)	T65S	probably damaging	Het
Rdh8	A	G	9: 20,736,637 (GRCm39)	S235G	possibly damaging	Het
Rrp12	T	C	19: 41,884,500 (GRCm39)	K6R	probably benign	Het
Sec24a	T	C	11: 51,587,560 (GRCm39)	D1025G	probably benign	Het
Sgo2a	T	G	1: 58,055,509 (GRCm39)	N564K	probably damaging	Het
Slc43a3	A	T	2: 84,774,612 (GRCm39)	M130L	probably benign	Het
Soat1	T	C	1: 156,274,145 (GRCm39)	I89V	probably benign	Het
Stxbp3-ps	C	T	19: 9,535,193 (GRCm39)		noncoding transcript	Het
Tacr2	A	G	10: 62,097,469 (GRCm39)		probably benign	Het
Tg	C	T	15: 66,606,435 (GRCm39)	T193I	probably benign	Het
Tnik	A	G	3: 28,596,179 (GRCm39)	T191A	probably damaging	Het
Trim27	T	C	13: 21,374,256 (GRCm39)		probably benign	Het
Usf2	A	T	7: 30,646,417 (GRCm39)	C134*	probably null	Het
Usp14	A	G	18: 10,001,769 (GRCm39)		probably null	Het
Usp47	T	C	7: 111,692,270 (GRCm39)	S911P	possibly damaging	Het
Vmn1r73	T	A	7: 11,490,574 (GRCm39)	S131T	possibly damaging	Het
Vmn2r80	T	C	10: 79,030,145 (GRCm39)	I657T	probably damaging	Het
Zfp935	A	T	13: 62,602,701 (GRCm39)	C166*	probably null	Het

Other mutations in St3gal5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02137:St3gal5	APN	6	72,105,266 (GRCm39)	missense	probably benign	0.00
IGL02277:St3gal5	APN	6	72,119,184 (GRCm39)	missense	possibly damaging	0.50
IGL02904:St3gal5	APN	6	72,124,108 (GRCm39)	missense	possibly damaging	0.94
R0107:St3gal5	UTSW	6	72,119,133 (GRCm39)	missense	probably benign	0.11
R1605:St3gal5	UTSW	6	72,119,272 (GRCm39)	missense	probably benign	0.42
R1854:St3gal5	UTSW	6	72,109,077 (GRCm39)	missense	probably damaging	1.00
R2875:St3gal5	UTSW	6	72,124,114 (GRCm39)	missense	possibly damaging	0.96
R3692:St3gal5	UTSW	6	72,126,013 (GRCm39)	missense	probably benign	0.05
R5071:St3gal5	UTSW	6	72,109,037 (GRCm39)	missense	probably damaging	1.00
R5265:St3gal5	UTSW	6	72,126,115 (GRCm39)	missense	probably damaging	1.00
R5609:St3gal5	UTSW	6	72,130,446 (GRCm39)	missense	possibly damaging	0.75
R8085:St3gal5	UTSW	6	72,074,925 (GRCm39)	missense	unknown
R8199:St3gal5	UTSW	6	72,119,175 (GRCm39)	missense	probably benign
R8251:St3gal5	UTSW	6	72,126,144 (GRCm39)	missense	probably benign	0.03
R8294:St3gal5	UTSW	6	72,074,816 (GRCm39)	missense
R8332:St3gal5	UTSW	6	72,119,165 (GRCm39)	nonsense	probably null
R8410:St3gal5	UTSW	6	72,119,281 (GRCm39)	missense	probably benign	0.00
R8730:St3gal5	UTSW	6	72,130,461 (GRCm39)	missense	probably damaging	1.00
R9363:St3gal5	UTSW	6	72,119,301 (GRCm39)	nonsense	probably null
R9599:St3gal5	UTSW	6	72,130,580 (GRCm39)	missense	probably benign	0.30
RF060:St3gal5	UTSW	6	72,074,836 (GRCm39)	frame shift	probably null

Posted On

2015-04-16