Mutagenetix > Incidental Mutation

Incidental Mutation 'R8792:Gal3st4'

670991

Institutional Source

Beutler Lab

Gene Symbol

Gal3st4

Ensembl Gene

ENSMUSG00000075593

Gene Name

galactose-3-O-sulfotransferase 4

Synonyms

MMRRC Submission

068635-MU

Accession Numbers

Essential gene?

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

Stock #

R8792 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138263183-138271102 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 138269251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 70 (V70M)

Ref Sequence

ENSEMBL: ENSMUSP00000098099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014089] [ENSMUST00000100530] [ENSMUST00000159067] [ENSMUST00000161279] [ENSMUST00000161647] [ENSMUST00000161665] [ENSMUST00000161827] [ENSMUST00000161984]

AlphaFold

Q3V1B8

Predicted Effect

probably benign
Transcript: ENSMUST00000014089

SMART Domains

Protein: ENSMUSP00000014089
Gene: ENSMUSG00000029510

Domain	Start	End	E-Value	Type
Pfam:Glypican	7	560	2.8e-186	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100530
AA Change: V70M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098099
Gene: ENSMUSG00000075593
AA Change: V70M

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

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 damaging
Transcript: ENSMUST00000161279
AA Change: V70M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124841
Gene: ENSMUSG00000075593
AA Change: V70M

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: V65M

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125084
Gene: ENSMUSG00000075593
AA Change: V65M

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

probably benign
Transcript: ENSMUST00000161665

SMART Domains

Protein: ENSMUSP00000124682
Gene: ENSMUSG00000075593

Domain	Start	End	E-Value	Type
transmembrane domain	17	39	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161827

SMART Domains

Protein: ENSMUSP00000124459
Gene: ENSMUSG00000029510

Domain	Start	End	E-Value	Type
Pfam:Glypican	11	566	3.1e-199	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161984

SMART Domains

Protein: ENSMUSP00000137879
Gene: ENSMUSG00000029510

Domain	Start	End	E-Value	Type
Pfam:Glypican	7	342	3.7e-134	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	T	C	15: 81,793,697 (GRCm39)	I382T	probably damaging	Het
Adam39	G	T	8: 41,279,613 (GRCm39)	R668L	probably benign	Het
Adam6b	T	C	12: 113,455,310 (GRCm39)	I709T	possibly damaging	Het
Adgrl3	A	G	5: 81,836,522 (GRCm39)	E692G	probably damaging	Het
Asxl2	T	C	12: 3,546,536 (GRCm39)	L440P	probably benign	Het
Atosb	G	A	4: 43,033,546 (GRCm39)	P536S	probably damaging	Het
Bmf	A	G	2: 118,377,386 (GRCm39)	F121L	probably damaging	Het
Cblif	C	A	19: 11,727,599 (GRCm39)	A141E	probably damaging	Het
Cdk9	A	T	2: 32,598,269 (GRCm39)	F262L	probably benign	Het
Clock	T	A	5: 76,410,574 (GRCm39)	D99V	probably damaging	Het
Dnah14	A	T	1: 181,642,189 (GRCm39)	T102S		Het
Eps15	T	C	4: 109,162,908 (GRCm39)	V67A	probably benign	Het
Fam171b	T	A	2: 83,643,103 (GRCm39)	L4H	probably damaging	Het
Fcho2	T	A	13: 98,951,769 (GRCm39)		probably benign	Het
Garin2	C	T	12: 78,761,924 (GRCm39)	T196M	probably damaging	Het
Got1l1	C	A	8: 27,690,749 (GRCm39)		probably null	Het
Gpr146	A	G	5: 139,378,549 (GRCm39)	Y117C	probably damaging	Het
Gpr158	G	A	2: 21,558,137 (GRCm39)	V346M	probably damaging	Het
Herc1	C	A	9: 66,372,768 (GRCm39)	P3108Q	probably damaging	Het
Hoxc9	A	G	15: 102,890,226 (GRCm39)	S48G	probably benign	Het
I830077J02Rik	T	C	3: 105,835,104 (GRCm39)		probably benign	Het
Ift70a1	C	A	2: 75,811,898 (GRCm39)	E62*	probably null	Het
Lama4	T	G	10: 38,924,048 (GRCm39)	I485M	probably benign	Het
Lrp4	C	T	2: 91,325,300 (GRCm39)	T1375I	possibly damaging	Het
Lrp6	T	C	6: 134,463,549 (GRCm39)	Y544C	probably damaging	Het
Man2b1	C	T	8: 85,821,773 (GRCm39)	Q692*	probably null	Het
Mark2	G	T	19: 7,258,580 (GRCm39)	H570N	probably benign	Het
Mlph	T	C	1: 90,870,682 (GRCm39)		probably benign	Het
Mnx1	G	A	5: 29,683,372 (GRCm39)		probably benign	Het
Nkx2-2	A	T	2: 147,019,813 (GRCm39)	V208E	probably benign	Het
Nlrp1b	T	C	11: 71,050,919 (GRCm39)	I1058V	probably benign	Het
Nwd2	T	C	5: 63,963,047 (GRCm39)	I877T	probably damaging	Het
Olfml2b	A	T	1: 170,508,669 (GRCm39)	N509I	possibly damaging	Het
Or1e27-ps1	T	C	11: 73,555,471 (GRCm39)	L12P	probably damaging	Het
Or4c121	T	C	2: 89,024,231 (GRCm39)	Y49C	probably benign	Het
Or4f14b	G	C	2: 111,775,073 (GRCm39)	H243D	probably damaging	Het
Pabpc6	T	C	17: 9,888,332 (GRCm39)	N73S	probably damaging	Het
Parp12	A	G	6: 39,065,984 (GRCm39)	F580L	probably benign	Het
Parvg	C	A	15: 84,213,160 (GRCm39)	H80Q	probably damaging	Het
Pcdhb14	T	C	18: 37,582,541 (GRCm39)	V549A	probably damaging	Het
Pde8b	T	A	13: 95,179,534 (GRCm39)	H374L	probably benign	Het
Pgap4	T	C	4: 49,587,067 (GRCm39)	T34A	possibly damaging	Het
Phf2	C	T	13: 48,970,981 (GRCm39)		probably benign	Het
Pld4	T	C	12: 112,729,924 (GRCm39)	F69L	probably benign	Het
Qrich2	T	C	11: 116,347,456 (GRCm39)	I1123V	unknown	Het
Rida	C	T	15: 34,495,242 (GRCm39)	V8M	possibly damaging	Het
Rnf19b	T	A	4: 128,952,478 (GRCm39)	C139S	probably damaging	Het
Rp1	T	C	1: 4,095,091 (GRCm39)	I1254M	unknown	Het
Rpl3l	A	G	17: 24,947,447 (GRCm39)	T2A	possibly damaging	Het
Serpinb6e	A	T	13: 34,022,942 (GRCm39)	I147N	possibly damaging	Het
Slc12a4	G	A	8: 106,673,390 (GRCm39)	T727I	probably damaging	Het
Slc25a16	C	T	10: 62,764,119 (GRCm39)	R59*	probably null	Het
Strc	T	A	2: 121,208,286 (GRCm39)	I362F	probably damaging	Het
Tbc1d5	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	17: 51,106,962 (GRCm39)		probably benign	Het
Tll1	T	A	8: 64,538,499 (GRCm39)	T382S	probably damaging	Het
Tmprss6	T	A	15: 78,328,328 (GRCm39)	D556V	probably damaging	Het
Ttc13	A	G	8: 125,401,099 (GRCm39)		probably null	Het
Usp43	T	A	11: 67,767,244 (GRCm39)	K709*	probably null	Het
Vcan	A	T	13: 89,840,230 (GRCm39)	N1771K	possibly damaging	Het
Zfyve16	T	C	13: 92,659,669 (GRCm39)	I81V	probably benign	Het
Zxdc	A	G	6: 90,346,986 (GRCm39)	T116A	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
R5442:Gal3st4	UTSW	5	138,264,042 (GRCm39)	missense	possibly damaging	0.71
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
R9604:Gal3st4	UTSW	5	138,264,011 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTTCTGAGTATCCGCACTC -3'
(R):5'- CCTACCTGGGAATGTGACTC -3'

Sequencing Primer
(F):5'- ACTCTGGGGATGGTAGCC -3'
(R):5'- ACTCTTGGGGGTAAATCCTCAG -3'

Posted On

2021-04-30