Mutagenetix > Incidental Mutation

Incidental Mutation 'R5071:St3gal5'

500872

Institutional Source

Beutler Lab

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

MMRRC Submission

042661-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R5071 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72074576-72131555 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72109037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 42 (C42R)

Ref Sequence

ENSEMBL: ENSMUSP00000145599 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069994] [ENSMUST00000114112] [ENSMUST00000188366]

AlphaFold

O88829

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069994
AA Change: C69R

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000070414
Gene: ENSMUSG00000056091
AA Change: C69R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114112
AA Change: C42R

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109747
Gene: ENSMUSG00000056091
AA Change: C42R

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 benign
Transcript: ENSMUST00000187007

Predicted Effect

probably damaging
Transcript: ENSMUST00000188366
AA Change: C42R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.3%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	T	15: 64,659,207 (GRCm39)	W528R	probably damaging	Het
Agbl1	A	G	7: 76,071,665 (GRCm39)	E329G	probably damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
AI182371	A	T	2: 34,975,227 (GRCm39)	I334N	probably benign	Het
Aldh1b1	A	G	4: 45,803,383 (GRCm39)		probably null	Het
Armc9	G	A	1: 86,113,838 (GRCm39)	M298I	probably benign	Het
Atp8a1	T	A	5: 67,973,066 (GRCm39)	K27N	probably benign	Het
BC004004	G	A	17: 29,513,389 (GRCm39)		probably null	Het
Ccdc83	A	T	7: 89,899,737 (GRCm39)	F45Y	probably damaging	Het
Cct8l1	G	A	5: 25,721,881 (GRCm39)	V199I	probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cdh17	G	T	4: 11,810,325 (GRCm39)	G672V	probably damaging	Het
Cdh5	C	A	8: 104,867,334 (GRCm39)	T537K	probably damaging	Het
Chd1	T	A	17: 15,982,667 (GRCm39)	S1377R	probably benign	Het
Chd2	T	C	7: 73,079,437 (GRCm39)	N1821S	probably benign	Het
Cnot3	A	G	7: 3,653,860 (GRCm39)	K4R	probably damaging	Het
Colq	T	A	14: 31,250,789 (GRCm39)	I339F	possibly damaging	Het
Coq2	A	T	5: 100,815,816 (GRCm39)	L121Q	probably damaging	Het
Csnk1e	G	A	15: 79,305,072 (GRCm39)	R342*	probably null	Het
Cstl1	A	T	2: 148,592,847 (GRCm39)	M1L	probably benign	Het
Cwh43	A	G	5: 73,581,256 (GRCm39)		probably null	Het
Cyp2a22	A	T	7: 26,631,906 (GRCm39)	F450Y	probably benign	Het
Cyp2d10	C	T	15: 82,287,954 (GRCm39)	R383H	probably benign	Het
Cyp4a29	A	G	4: 115,104,860 (GRCm39)	T123A	probably benign	Het
Dgkh	T	C	14: 78,841,972 (GRCm39)	K417E	probably damaging	Het
Dnah11	A	T	12: 118,046,188 (GRCm39)	L1750*	probably null	Het
Edn1	A	G	13: 42,457,153 (GRCm39)	E62G	probably damaging	Het
Eef1akmt1	A	G	14: 57,803,464 (GRCm39)	L30P	probably damaging	Het
Fbxo42	T	C	4: 140,926,256 (GRCm39)	W313R	probably damaging	Het
Fign	A	T	2: 63,810,037 (GRCm39)	L411*	probably null	Het
Fitm1	T	A	14: 55,813,230 (GRCm39)	V31E	possibly damaging	Het
Fryl	G	A	5: 73,232,110 (GRCm39)	P1550L	probably damaging	Het
Gabrd	A	C	4: 155,471,619 (GRCm39)	F228C	probably damaging	Het
Gm5916	A	C	9: 36,039,964 (GRCm39)	L8R	probably benign	Het
Gpr108	A	G	17: 57,542,335 (GRCm39)	S557P	probably damaging	Het
Gpr75	C	A	11: 30,842,380 (GRCm39)	N428K	probably damaging	Het
H2-M5	T	G	17: 37,298,076 (GRCm39)		probably null	Het
Hdac6	A	G	X: 7,811,036 (GRCm39)	F104L	probably damaging	Homo
Homer3	T	C	8: 70,744,005 (GRCm39)	V243A	probably benign	Het
Hspg2	T	C	4: 137,267,541 (GRCm39)	S2050P	probably damaging	Het
Hydin	A	G	8: 111,265,105 (GRCm39)	N2763D	probably benign	Het
Ifi203	T	C	1: 173,762,676 (GRCm39)	Q152R	possibly damaging	Het
Ifi44	T	C	3: 151,455,269 (GRCm39)		probably benign	Het
Ifi47	A	G	11: 48,986,361 (GRCm39)	T43A	probably benign	Het
Ighv1-24	A	G	12: 114,736,748 (GRCm39)	Y51H	probably benign	Het
Inf2	A	T	12: 112,578,473 (GRCm39)		probably null	Het
Insl6	T	C	19: 29,302,655 (GRCm39)	R21G	probably benign	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Ltbp3	T	C	19: 5,806,851 (GRCm39)	C1043R	probably damaging	Het
Mpeg1	T	A	19: 12,438,545 (GRCm39)	M1K	probably null	Het
Mrtfa	A	G	15: 80,906,627 (GRCm39)	V91A	probably damaging	Het
Muc21	G	A	17: 35,931,444 (GRCm39)		probably benign	Het
Ncald	A	T	15: 37,397,478 (GRCm39)	H67Q	probably damaging	Het
Nek9	C	A	12: 85,374,233 (GRCm39)	R268L	possibly damaging	Het
Nudt5	T	A	2: 5,869,198 (GRCm39)	H141Q	probably benign	Het
Numbl	G	A	7: 26,980,415 (GRCm39)	D466N	probably damaging	Het
Or14c46	A	G	7: 85,918,799 (GRCm39)	I66T	probably damaging	Het
Or2l5	A	G	16: 19,333,777 (GRCm39)	I203T	probably benign	Het
Or4c100	T	C	2: 88,356,385 (GRCm39)	S153P	probably damaging	Het
Or51l14	A	T	7: 103,100,617 (GRCm39)	E24D	probably benign	Het
Or52n2c	A	C	7: 104,574,700 (GRCm39)	N90K	probably benign	Het
Or6x1	T	C	9: 40,098,960 (GRCm39)	L183S	probably damaging	Het
Or8h10	A	T	2: 86,808,666 (GRCm39)	V158D	possibly damaging	Het
Pik3c2g	T	A	6: 139,665,873 (GRCm39)	C65S	probably null	Het
Plagl1	A	G	10: 13,003,005 (GRCm39)	Y91C	probably damaging	Het
Polr1a	A	G	6: 71,908,693 (GRCm39)	N506S	possibly damaging	Het
Pomt2	A	C	12: 87,180,234 (GRCm39)	C256G	probably damaging	Het
Psg29	T	A	7: 16,945,763 (GRCm39)	D444E	probably damaging	Het
Ptgs1	A	T	2: 36,141,272 (GRCm39)	N573I	probably damaging	Het
Ptprf	C	A	4: 118,069,196 (GRCm39)	G1624W	probably damaging	Het
Rbm38	C	T	2: 172,863,875 (GRCm39)	P15S	probably benign	Het
Rc3h1	A	G	1: 160,787,047 (GRCm39)	D814G	possibly damaging	Het
Rnf40	T	C	7: 127,196,458 (GRCm39)	L802P	probably damaging	Het
Rusc2	A	G	4: 43,415,240 (GRCm39)	D182G	probably benign	Het
Setd1b	A	G	5: 123,298,977 (GRCm39)		probably benign	Het
Slc4a2	G	A	5: 24,643,760 (GRCm39)	S855N	probably benign	Het
Slc8a2	T	C	7: 15,884,508 (GRCm39)	L626P	possibly damaging	Het
Slirp	A	G	12: 87,490,784 (GRCm39)	T29A	probably damaging	Het
Smarcc2	A	G	10: 128,299,809 (GRCm39)	D158G	probably damaging	Het
Sptbn1	A	G	11: 30,063,854 (GRCm39)		probably null	Het
Syt7	T	C	19: 10,420,792 (GRCm39)	S397P	possibly damaging	Het
Tenm2	T	A	11: 35,959,208 (GRCm39)	T1114S	probably damaging	Het
Thada	T	A	17: 84,693,960 (GRCm39)	D1263V	probably damaging	Het
Tmco3	G	T	8: 13,342,860 (GRCm39)	E199*	probably null	Het
Tpcn1	A	T	5: 120,686,334 (GRCm39)		probably null	Het
Tppp2	G	A	14: 52,157,912 (GRCm39)	R119Q	probably benign	Het
Trim30d	A	C	7: 104,137,165 (GRCm39)	V13G	probably damaging	Het
Ubxn2b	A	T	4: 6,214,746 (GRCm39)	Q260L	probably damaging	Het
Ufl1	A	G	4: 25,254,780 (GRCm39)	Y559H	probably benign	Het
Usp5	A	G	6: 124,803,342 (GRCm39)	F7L	probably benign	Het
Utrn	A	T	10: 12,259,948 (GRCm39)		probably null	Het
Vmn1r28	A	T	6: 58,242,894 (GRCm39)	I246F	probably benign	Het
Vmn2r2	C	A	3: 64,024,321 (GRCm39)	M753I	probably benign	Het
Zbtb26	T	C	2: 37,325,941 (GRCm39)	H365R	probably benign	Het
Zfp976	A	T	7: 42,262,354 (GRCm39)	Y494*	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
IGL02756:St3gal5	APN	6	72,126,157 (GRCm39)	missense	probably null	0.83
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
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

Predicted Primers

PCR Primer
(F):5'- TTCACAGTGTGGCGACCTTAG -3'
(R):5'- GGGCCTGCAGCTAAAGTATG -3'

Sequencing Primer
(F):5'- ACCTTAGGTCAGCAGTTCTCAAC -3'
(R):5'- CCTGCAGCTAAAGTATGTGCTTG -3'

Posted On

2017-12-01