Mutagenetix > Incidental Mutation

Incidental Mutation 'R5442:Gal3st4'

427222

Institutional Source

Beutler Lab

Gene Symbol

Gal3st4

Ensembl Gene

ENSMUSG00000075593

Gene Name

galactose-3-O-sulfotransferase 4

Synonyms

MMRRC Submission

043007-MU

Accession Numbers

Essential gene?

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

Stock #

R5442 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

138263183-138271102 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138264042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 319 (V319A)

Ref Sequence

ENSEMBL: ENSMUSP00000124841 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048421] [ENSMUST00000100530] [ENSMUST00000161279] [ENSMUST00000161647] [ENSMUST00000159067] [ENSMUST00000159123] [ENSMUST00000159649] [ENSMUST00000159146]

AlphaFold

Q3V1B8

Predicted Effect

probably benign
Transcript: ENSMUST00000048421

SMART Domains

Protein: ENSMUSP00000046898
Gene: ENSMUSG00000036948

Domain	Start	End	E-Value	Type
low complexity region	53	71	N/A	INTRINSIC
low complexity region	75	93	N/A	INTRINSIC
low complexity region	95	114	N/A	INTRINSIC
low complexity region	215	225	N/A	INTRINSIC
low complexity region	488	502	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100530
AA Change: V319A

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000098099
Gene: ENSMUSG00000075593
AA Change: V319A

Domain	Start	End	E-Value	Type
Pfam:Gal-3-0_sulfotr	2	231	1.1e-57	PFAM
Pfam:Gal-3-0_sulfotr	270	463	1e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124298

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125662

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138911

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144460

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161279
AA Change: V319A

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124841
Gene: ENSMUSG00000075593
AA Change: V319A

Domain	Start	End	E-Value	Type
Pfam:Gal-3-0_sulfotr	2	231	1.1e-57	PFAM
Pfam:Gal-3-0_sulfotr	270	463	1e-54	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161647
AA Change: V314A

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125084
Gene: ENSMUSG00000075593
AA Change: V314A

Domain	Start	End	E-Value	Type
Pfam:Gal-3-0_sulfotr	4	226	5.3e-58	PFAM
Pfam:Gal-3-0_sulfotr	265	458	3.8e-55	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162557

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159872

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159534

Predicted Effect

probably benign
Transcript: ENSMUST00000159067

SMART Domains

Protein: ENSMUSP00000125178
Gene: ENSMUSG00000106247

Domain	Start	End	E-Value	Type
Pfam:Glypican	7	250	1e-90	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159123

SMART Domains

Protein: ENSMUSP00000137679
Gene: ENSMUSG00000036948

Domain	Start	End	E-Value	Type
low complexity region	53	71	N/A	INTRINSIC
low complexity region	75	93	N/A	INTRINSIC
low complexity region	95	114	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159649

SMART Domains

Protein: ENSMUSP00000125208
Gene: ENSMUSG00000036948

Domain	Start	End	E-Value	Type
low complexity region	219	233	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159146

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate to the C-3' position of galactose residues in O-linked glycoproteins. This enzyme is highly specific for core 1 structures, with asialofetuin, Gal-beta-1,3-GalNAc and Gal-beta-1,3 (GlcNAc-beta-1,6)GalNAc being good substrates. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,909,594 (GRCm39)	M114T	probably benign	Het
Ablim3	A	T	18: 61,990,296 (GRCm39)		probably null	Het
Adcy10	A	G	1: 165,340,709 (GRCm39)	D238G	probably benign	Het
Astn2	G	T	4: 65,500,023 (GRCm39)	S955R	possibly damaging	Het
Casc3	A	G	11: 98,712,297 (GRCm39)	E112G	probably damaging	Het
Cetn4	C	T	3: 37,364,094 (GRCm39)	V39I	probably benign	Het
Commd4	A	G	9: 57,064,090 (GRCm39)	V37A	possibly damaging	Het
Dyrk2	T	C	10: 118,696,643 (GRCm39)	Q205R	possibly damaging	Het
Inpp5d	G	A	1: 87,645,788 (GRCm39)	A1058T	probably benign	Het
Lpin3	A	G	2: 160,746,936 (GRCm39)	Y781C	probably damaging	Het
Lrat	C	T	3: 82,810,527 (GRCm39)	V165M	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Nlrp6	T	C	7: 140,502,103 (GRCm39)	S142P	probably benign	Het
Oas1a	T	C	5: 121,035,269 (GRCm39)	T349A	probably benign	Het
Or52e8	A	T	7: 104,624,435 (GRCm39)	F252L	possibly damaging	Het
Or5m3b	T	C	2: 85,872,295 (GRCm39)	V212A	probably benign	Het
Or5v1	A	T	17: 37,810,330 (GRCm39)	I263F	probably damaging	Het
Or8c20	T	A	9: 38,261,158 (GRCm39)	S260T	probably benign	Het
Pakap	C	A	4: 57,637,876 (GRCm39)	P18Q	probably null	Het
Pcdha2	T	C	18: 37,072,915 (GRCm39)	V182A	probably benign	Het
Phactr3	A	G	2: 177,784,254 (GRCm39)	D26G	probably benign	Het
Phrf1	G	A	7: 140,820,850 (GRCm39)	R159H	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rab3ip	T	C	10: 116,754,753 (GRCm39)	T268A	probably benign	Het
Rapgef3	T	C	15: 97,656,742 (GRCm39)	D299G	probably damaging	Het
Rem1	A	G	2: 152,469,977 (GRCm39)		probably null	Het
Slc28a2b	A	G	2: 122,317,350 (GRCm39)	N36S	probably benign	Het
Syne1	A	G	10: 5,293,473 (GRCm39)	M1286T	probably benign	Het
Thsd7a	T	C	6: 12,748,799 (GRCm39)	T52A	probably benign	Het
Tmem135	A	T	7: 88,793,872 (GRCm39)	F390Y	probably damaging	Het
Trio	T	C	15: 27,856,280 (GRCm39)	D696G	probably benign	Het
Ttll11	T	C	2: 35,793,135 (GRCm39)	*191W	probably null	Het
Ubr4	A	G	4: 139,135,083 (GRCm39)	D805G	probably damaging	Het
Usp9y	A	G	Y: 1,336,467 (GRCm39)	I1469T	possibly damaging	Het
Vmn1r70	G	T	7: 10,367,877 (GRCm39)	A122S	possibly damaging	Het
Vmn2r78	G	T	7: 86,569,330 (GRCm39)	L74F	possibly damaging	Het
Wdfy3	T	C	5: 102,044,425 (GRCm39)	E1860G	probably benign	Het

Other mutations in Gal3st4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Gal3st4	APN	5	138,269,664 (GRCm39)	start codon destroyed	probably null	0.99
IGL01916:Gal3st4	APN	5	138,269,197 (GRCm39)	missense	probably damaging	1.00
IGL02724:Gal3st4	APN	5	138,263,679 (GRCm39)	missense	probably benign	0.30
IGL02978:Gal3st4	APN	5	138,263,931 (GRCm39)	missense	probably damaging	1.00
R0506:Gal3st4	UTSW	5	138,264,151 (GRCm39)	missense	probably benign	0.19
R1858:Gal3st4	UTSW	5	138,269,050 (GRCm39)	splice site	probably null
R1914:Gal3st4	UTSW	5	138,263,672 (GRCm39)	missense	probably benign	0.08
R1915:Gal3st4	UTSW	5	138,263,672 (GRCm39)	missense	probably benign	0.08
R4615:Gal3st4	UTSW	5	138,264,525 (GRCm39)	missense	probably damaging	0.97
R4805:Gal3st4	UTSW	5	138,263,733 (GRCm39)	splice site	probably null
R5334:Gal3st4	UTSW	5	138,263,983 (GRCm39)	missense	probably benign	0.01
R6913:Gal3st4	UTSW	5	138,269,090 (GRCm39)	missense	possibly damaging	0.78
R7795:Gal3st4	UTSW	5	138,269,100 (GRCm39)	missense	probably benign	0.00
R7948:Gal3st4	UTSW	5	138,269,262 (GRCm39)	missense	probably benign	0.08
R8792:Gal3st4	UTSW	5	138,269,251 (GRCm39)	missense	probably damaging	0.99
R9604:Gal3st4	UTSW	5	138,264,011 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCATACTGTTCTATCCGCG -3'
(R):5'- ACATATTGTACCTTCCGGTGCTAG -3'

Sequencing Primer
(F):5'- GCCCACAGACTACGGTTGAAG -3'
(R):5'- GCTGCTGATAGTTACAAGCAGCC -3'

Posted On

2016-09-01