Mutagenetix > Incidental Mutation

Incidental Mutation 'R1858:Gal3st4'

206314

Institutional Source

Beutler Lab

Gene Symbol

Gal3st4

Ensembl Gene

ENSMUSG00000075593

Gene Name

galactose-3-O-sulfotransferase 4

Synonyms

MMRRC Submission

039882-MU

Accession Numbers

Essential gene?

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

Stock #

R1858 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138263183-138271102 bp(-) (GRCm39)

Type of Mutation

splice site (2867 bp from exon)

DNA Base Change (assembly)

T to C at 138269050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124459 (fasta)

Gene Model

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

AlphaFold

Q3V1B8

Predicted Effect

probably null
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: M137V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098099
Gene: ENSMUSG00000075593
AA Change: M137V

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

probably damaging
Transcript: ENSMUST00000161647
AA Change: M132V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125084
Gene: ENSMUSG00000075593
AA Change: M132V

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 damaging
Transcript: ENSMUST00000161279
AA Change: M137V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124841
Gene: ENSMUSG00000075593
AA Change: M137V

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: ENSMUST00000162909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161055

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162557

Predicted Effect

probably null
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

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 null
Transcript: ENSMUST00000161665

SMART Domains

Protein: ENSMUSP00000124682
Gene: ENSMUSG00000075593

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

Meta Mutation Damage Score

0.5359

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.8%
20x: 91.0%

Validation Efficiency

97% (112/116)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	C	A	1: 12,045,177 (GRCm39)	A443E	unknown	Het
Acacb	A	T	5: 114,334,770 (GRCm39)	Y613F	probably benign	Het
Adam23	A	C	1: 63,596,615 (GRCm39)	I566L	probably benign	Het
Adar	G	T	3: 89,646,589 (GRCm39)	R338L	probably benign	Het
Akap14	C	T	X: 36,420,779 (GRCm39)	A476T	probably damaging	Het
Amotl1	T	A	9: 14,486,697 (GRCm39)	Q399L	probably benign	Het
Ankrd16	T	G	2: 11,783,407 (GRCm39)	L3R	probably benign	Het
Arfgap1	G	C	2: 180,615,881 (GRCm39)	G187R	probably damaging	Het
Arhgap19	A	T	19: 41,767,592 (GRCm39)	V399D	probably benign	Het
Arl4d	A	G	11: 101,557,578 (GRCm39)	T35A	probably damaging	Het
Atr	T	A	9: 95,747,150 (GRCm39)	I144N	probably damaging	Het
Bptf	A	G	11: 106,964,127 (GRCm39)	M1574T	probably benign	Het
Cacna1h	T	A	17: 25,599,781 (GRCm39)	D1684V	probably damaging	Het
Celsr1	C	A	15: 85,916,960 (GRCm39)	V338F	probably damaging	Het
Cep164	T	C	9: 45,734,938 (GRCm39)		probably benign	Het
Clock	C	A	5: 76,388,756 (GRCm39)	G390C	possibly damaging	Het
Col6a6	A	G	9: 105,658,301 (GRCm39)	F637S	probably damaging	Het
Crebrf	T	A	17: 26,961,937 (GRCm39)	Y345N	probably benign	Het
Cstdc3	A	T	16: 36,128,449 (GRCm39)	I15F	probably damaging	Het
Cul1	A	G	6: 47,502,458 (GRCm39)		probably null	Het
Cyb5r4	C	T	9: 86,923,332 (GRCm39)	S185L	probably benign	Het
Cyp3a57	T	C	5: 145,318,059 (GRCm39)	Y347H	probably damaging	Het
Dgkq	G	T	5: 108,801,597 (GRCm39)	T487K	probably benign	Het
Dmkn	T	C	7: 30,463,990 (GRCm39)	V143A	probably benign	Het
Dmp1	A	T	5: 104,355,496 (GRCm39)	E32V	possibly damaging	Het
Dsc3	T	C	18: 20,098,773 (GRCm39)	D802G	probably damaging	Het
Dse	T	C	10: 34,029,225 (GRCm39)	T622A	probably benign	Het
Duxf4	A	G	10: 58,071,602 (GRCm39)	V204A	probably benign	Het
Dyrk1b	A	T	7: 27,882,071 (GRCm39)		probably null	Het
Ehd2	T	C	7: 15,686,113 (GRCm39)	T320A	probably benign	Het
Eif3a	A	C	19: 60,770,635 (GRCm39)	L71V	probably damaging	Het
Eif4e1b	A	G	13: 54,935,091 (GRCm39)		probably null	Het
Fam131b	A	G	6: 42,295,914 (GRCm39)	F161L	probably damaging	Het
Fam171b	A	T	2: 83,683,725 (GRCm39)	M81L	probably benign	Het
Gdf11	A	T	10: 128,722,315 (GRCm39)	V180E	probably damaging	Het
Grin3a	T	A	4: 49,792,437 (GRCm39)	Y432F	probably benign	Het
Hif1a	C	A	12: 73,990,929 (GRCm39)	H708N	probably benign	Het
Hmcn2	G	T	2: 31,305,295 (GRCm39)		probably null	Het
Hs3st6	T	A	17: 24,976,973 (GRCm39)	M151K	possibly damaging	Het
Hyal2	T	A	9: 107,449,537 (GRCm39)	L431Q	probably benign	Het
Hyal6	A	T	6: 24,740,857 (GRCm39)	T337S	probably benign	Het
Igsf5	A	T	16: 96,187,829 (GRCm39)		probably null	Het
Kif13a	G	A	13: 47,018,314 (GRCm39)		probably benign	Het
Krtap19-3	G	A	16: 88,674,878 (GRCm39)		probably benign	Het
Lgalsl	T	C	11: 20,779,420 (GRCm39)	D75G	probably benign	Het
Lrrc56	A	G	7: 140,787,421 (GRCm39)	M353V	probably benign	Het
Ltbp2	T	A	12: 84,877,555 (GRCm39)	K337*	probably null	Het
Mdn1	C	T	4: 32,730,881 (GRCm39)	H2917Y	probably benign	Het
Medag	A	G	5: 149,353,259 (GRCm39)	I151M	probably damaging	Het
Meiob	T	C	17: 25,042,544 (GRCm39)	V124A	probably damaging	Het
Mmp3	A	G	9: 7,451,799 (GRCm39)	H379R	probably benign	Het
Mpg	A	G	11: 32,181,957 (GRCm39)		probably null	Het
Ncoa6	G	T	2: 155,263,559 (GRCm39)	Q292K	probably benign	Het
Ndufaf6	G	T	4: 11,053,474 (GRCm39)	H277Q	probably benign	Het
Nlrp4c	A	G	7: 6,087,655 (GRCm39)	I763V	probably benign	Het
Nlrp5	A	T	7: 23,117,586 (GRCm39)	I437F	probably damaging	Het
Noc2l	G	A	4: 156,329,727 (GRCm39)	R435Q	probably damaging	Het
Nova2	T	C	7: 18,692,326 (GRCm39)	I485T	probably damaging	Het
Nrxn2	G	A	19: 6,538,825 (GRCm39)	V794I	probably benign	Het
Nup210l	A	G	3: 90,061,806 (GRCm39)	T662A	probably damaging	Het
Or2ad1	A	T	13: 21,326,564 (GRCm39)	I221N	probably damaging	Het
Or2b28	A	G	13: 21,531,346 (GRCm39)	M83V	possibly damaging	Het
Or2p2	A	T	13: 21,256,641 (GRCm39)	F277I	probably damaging	Het
Or51aa2	G	A	7: 103,187,859 (GRCm39)	T194I	probably damaging	Het
Or51e2	A	C	7: 102,391,571 (GRCm39)	I213S	probably damaging	Het
Or51l14	G	A	7: 103,101,332 (GRCm39)	V263I	probably benign	Het
Or9g8	T	C	2: 85,607,582 (GRCm39)	L218P	probably damaging	Het
Pelp1	G	A	11: 70,285,568 (GRCm39)	P767S	probably damaging	Het
Pfdn1	C	A	18: 36,584,153 (GRCm39)	M60I	probably benign	Het
Plaat1	G	A	16: 29,036,470 (GRCm39)	G36D	probably damaging	Het
Plcxd3	T	A	15: 4,546,093 (GRCm39)		probably benign	Het
Plekhg1	C	A	10: 3,895,917 (GRCm39)	D436E	possibly damaging	Het
Ppfibp1	G	A	6: 146,892,090 (GRCm39)	V117I	probably benign	Het
Prss44	A	G	9: 110,643,177 (GRCm39)	K24R	probably benign	Het
Ptger1	G	T	8: 84,395,107 (GRCm39)	G195W	probably benign	Het
Ptgs1	A	C	2: 36,132,782 (GRCm39)	D260A	probably benign	Het
Ptprd	T	A	4: 75,865,384 (GRCm39)	T1198S	probably damaging	Het
Qsox2	A	G	2: 26,104,074 (GRCm39)	S319P	probably damaging	Het
Rab35	A	G	5: 115,778,147 (GRCm39)	I38V	probably damaging	Het
Rapgef4	A	G	2: 71,861,408 (GRCm39)	I33V	possibly damaging	Het
Rbbp8nl	C	T	2: 179,924,006 (GRCm39)		probably benign	Het
Riok1	A	T	13: 38,242,694 (GRCm39)	K473*	probably null	Het
Rtca	C	T	3: 116,287,764 (GRCm39)	G288S	probably benign	Het
Sag	A	T	1: 87,742,570 (GRCm39)	D114V	probably benign	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sec61g	A	G	11: 16,456,371 (GRCm39)		probably null	Het
Sf3a3	A	T	4: 124,623,288 (GRCm39)	I440F	probably damaging	Het
Sgta	T	C	10: 80,884,695 (GRCm39)	K205E	possibly damaging	Het
Slc36a4	A	G	9: 15,632,006 (GRCm39)	T61A	probably damaging	Het
Slc5a4a	T	C	10: 76,002,569 (GRCm39)	S242P	probably benign	Het
Srgap3	A	T	6: 112,748,479 (GRCm39)	L391Q	probably damaging	Het
Stard13	T	C	5: 151,018,903 (GRCm39)	Y60C	probably damaging	Het
Styxl2	T	C	1: 165,928,415 (GRCm39)	Y399C	possibly damaging	Het
Syt12	G	T	19: 4,497,825 (GRCm39)	H386N	probably damaging	Het
Thyn1	T	A	9: 26,915,070 (GRCm39)	M74K	probably benign	Het
Tmem130	C	A	5: 144,689,093 (GRCm39)		probably null	Het
Trim71	A	G	9: 114,392,016 (GRCm39)	V57A	possibly damaging	Het
Twf1	T	C	15: 94,483,428 (GRCm39)		probably benign	Het
Tyro3	T	A	2: 119,632,176 (GRCm39)	I81N	possibly damaging	Het
Unc13a	A	T	8: 72,105,043 (GRCm39)	C740S	probably damaging	Het
Vmn1r15	A	T	6: 57,235,616 (GRCm39)	K161N	probably benign	Het
Vmn1r16	A	T	6: 57,299,884 (GRCm39)	I246N	probably damaging	Het
Vmn1r42	A	G	6: 89,821,597 (GRCm39)	I324T	probably benign	Het
Vmn2r35	T	C	7: 7,819,805 (GRCm39)	Y155C	possibly damaging	Het
Wif1	T	A	10: 120,919,788 (GRCm39)		probably null	Het
Wscd2	G	A	5: 113,689,231 (GRCm39)	R79Q	possibly damaging	Het
Zan	G	T	5: 137,404,139 (GRCm39)		probably benign	Het
Zfp9	G	T	6: 118,442,021 (GRCm39)	H214N	probably benign	Het
Zfp985	A	T	4: 147,667,315 (GRCm39)	Y61F	probably benign	Het
Zscan30	A	G	18: 24,104,524 (GRCm39)		noncoding transcript	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
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
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'- TGCCCCAGAGAAAGGACATTTG -3'
(R):5'- ACAGCGACTTGTGTTCTTGAAG -3'

Sequencing Primer
(F):5'- TTGTAGGAAGAGCAATAGGAGACCTC -3'
(R):5'- GCGACTTGTGTTCTTGAAGACACAC -3'

Posted On

2014-06-23