Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01973:Galnt3'

182598

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Galnt3

Ensembl Gene

ENSMUSG00000026994

Gene Name

polypeptide N-acetylgalactosaminyltransferase 3

Synonyms

ppGaNTase-T3

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.380) question?

Stock #

IGL01973

Quality Score

Status

Chromosome

Chromosomal Location

65913110-65955217 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65914606 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 604 (M604V)

Ref Sequence

ENSEMBL: ENSMUSP00000028378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028378]

AlphaFold

P70419

Predicted Effect

probably benign
Transcript: ENSMUST00000028378
AA Change: M604V

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000028378
Gene: ENSMUSG00000026994
AA Change: M604V

Domain	Start	End	E-Value	Type
transmembrane domain	20	37	N/A	INTRINSIC
coiled coil region	44	75	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	185	440	8.3e-10	PFAM
Pfam:Glycos_transf_2	188	374	1.2e-35	PFAM
Pfam:Glyco_transf_7C	345	423	7.7e-14	PFAM
RICIN	506	630	2.71e-28	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155453

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased circulating alkaline phosphatase, hypercalcemia, hyperphosphatemia, decreased circulating parathyroid hormone, and male specific postnatal growth retardation, infertility, and increase in bone density. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	A	G	12: 17,061,172 (GRCm39)	W59R	probably damaging	Het
Adam17	C	T	12: 21,399,944 (GRCm39)	R154K	probably damaging	Het
Ajm1	G	T	2: 25,469,584 (GRCm39)	S109*	probably null	Het
Atp9b	A	T	18: 80,801,518 (GRCm39)	F791I	probably benign	Het
Atr	T	G	9: 95,753,727 (GRCm39)	S776R	probably damaging	Het
AW554918	A	T	18: 25,553,056 (GRCm39)	T487S	probably damaging	Het
Bckdhb	T	A	9: 83,873,789 (GRCm39)	F217Y	probably benign	Het
Cacna1i	G	A	15: 80,266,234 (GRCm39)	A1574T	probably damaging	Het
Ccdc150	G	A	1: 54,339,647 (GRCm39)		probably null	Het
Clca4c-ps	A	T	3: 144,585,593 (GRCm39)		noncoding transcript	Het
Clec4a1	T	C	6: 122,907,680 (GRCm39)	S123P	probably damaging	Het
Col6a4	T	C	9: 105,940,093 (GRCm39)	Y1279C	probably damaging	Het
Cox8c	T	A	12: 102,865,626 (GRCm39)	M1K	probably null	Het
Crat	G	T	2: 30,295,493 (GRCm39)	S370Y	probably damaging	Het
Cts7	A	T	13: 61,503,414 (GRCm39)	D183E	probably benign	Het
Cyp1a2	C	A	9: 57,589,678 (GRCm39)	W45C	probably damaging	Het
Eml5	T	A	12: 98,829,539 (GRCm39)	I492L	probably benign	Het
Fbxl4	T	G	4: 22,422,766 (GRCm39)	L456R	probably damaging	Het
Flt1	G	T	5: 147,620,699 (GRCm39)	H148Q	probably benign	Het
Gatb	T	C	3: 85,518,731 (GRCm39)	V279A	probably damaging	Het
Heatr1	C	A	13: 12,444,680 (GRCm39)	H1543Q	probably benign	Het
Ighg2b	C	T	12: 113,271,305 (GRCm39)	V83I	unknown	Het
Jcad	A	G	18: 4,675,514 (GRCm39)	Q1092R	probably benign	Het
Kirrel3	A	G	9: 34,927,764 (GRCm39)	E6G	probably damaging	Het
Klhl22	A	G	16: 17,610,575 (GRCm39)	S609G	probably benign	Het
Kntc1	A	G	5: 123,904,021 (GRCm39)	Y346C	probably damaging	Het
Maneal	T	C	4: 124,752,948 (GRCm39)	D233G	probably benign	Het
Mcm3ap	T	C	10: 76,306,951 (GRCm39)	S355P	probably benign	Het
Mtus2	C	T	5: 148,240,286 (GRCm39)		probably benign	Het
Muc4	A	G	16: 32,575,383 (GRCm39)	T1380A	probably benign	Het
Nedd4	T	A	9: 72,644,216 (GRCm39)	M661K	possibly damaging	Het
Nomo1	T	C	7: 45,732,651 (GRCm39)		probably benign	Het
Ntmt2	A	G	1: 163,544,689 (GRCm39)	I98T	probably benign	Het
Ntsr2	T	A	12: 16,706,775 (GRCm39)	W268R	probably benign	Het
Nup188	A	C	2: 30,229,862 (GRCm39)	Q1360P	possibly damaging	Het
Or2c1	A	T	16: 3,657,641 (GRCm39)	Q268L	probably damaging	Het
Or6k6	A	G	1: 173,945,099 (GRCm39)	F161S	probably damaging	Het
Pabpc1	A	T	15: 36,599,519 (GRCm39)	V392E	probably benign	Het
Pcdhb11	C	A	18: 37,556,565 (GRCm39)	R632S	probably damaging	Het
Phf11	A	G	14: 59,488,578 (GRCm39)	V73A	probably benign	Het
Pnpla6	T	A	8: 3,567,619 (GRCm39)	M87K	probably damaging	Het
Prkd1	C	T	12: 50,413,162 (GRCm39)	G670R	probably damaging	Het
Raf1	G	A	6: 115,653,530 (GRCm39)		probably benign	Het
Rapgef2	T	A	3: 78,999,116 (GRCm39)		probably null	Het
Rnf215	A	T	11: 4,086,615 (GRCm39)	H164L	probably damaging	Het
Slc24a3	T	C	2: 145,086,947 (GRCm39)	V19A	probably benign	Het
Tbc1d16	A	T	11: 119,047,533 (GRCm39)	V396E	probably benign	Het
Tecpr1	T	C	5: 144,134,806 (GRCm39)		probably benign	Het
Thap12	T	A	7: 98,365,706 (GRCm39)	Y625N	possibly damaging	Het
Tshz2	A	T	2: 169,726,603 (GRCm39)	M400L	probably damaging	Het
Ttc28	A	G	5: 111,372,101 (GRCm39)	Y850C	possibly damaging	Het
Ugt1a7c	A	G	1: 88,022,856 (GRCm39)	D5G	probably benign	Het
Vmn2r10	C	T	5: 109,143,543 (GRCm39)	M802I	probably damaging	Het
Washc4	T	C	10: 83,391,973 (GRCm39)	Y220H	probably damaging	Het
Zfhx3	T	A	8: 109,673,825 (GRCm39)	M1625K	probably damaging	Het
Zfp677	T	A	17: 21,617,169 (GRCm39)	N75K	probably damaging	Het
Zzz3	T	C	3: 152,134,007 (GRCm39)	V355A	probably benign	Het

Other mutations in Galnt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Galnt3	APN	2	65,925,628 (GRCm39)	missense	probably damaging	1.00
IGL01563:Galnt3	APN	2	65,928,101 (GRCm39)	missense	probably damaging	0.97
IGL02004:Galnt3	APN	2	65,926,270 (GRCm39)	missense	probably damaging	1.00
IGL02424:Galnt3	APN	2	65,926,132 (GRCm39)	critical splice donor site	probably null
IGL02946:Galnt3	APN	2	65,925,562 (GRCm39)	missense	probably damaging	0.99
IGL03059:Galnt3	APN	2	65,923,954 (GRCm39)	missense	probably damaging	1.00
PIT4531001:Galnt3	UTSW	2	65,937,432 (GRCm39)	missense	probably benign	0.03
R0437:Galnt3	UTSW	2	65,937,573 (GRCm39)	missense	possibly damaging	0.74
R1390:Galnt3	UTSW	2	65,921,567 (GRCm39)	missense	probably damaging	1.00
R1536:Galnt3	UTSW	2	65,914,550 (GRCm39)	missense	probably damaging	1.00
R1869:Galnt3	UTSW	2	65,928,123 (GRCm39)	missense	possibly damaging	0.82
R2987:Galnt3	UTSW	2	65,914,585 (GRCm39)	missense	probably benign	0.00
R3973:Galnt3	UTSW	2	65,937,374 (GRCm39)	missense	possibly damaging	0.77
R4039:Galnt3	UTSW	2	65,915,671 (GRCm39)	missense	probably damaging	0.96
R4515:Galnt3	UTSW	2	65,923,954 (GRCm39)	missense	probably damaging	1.00
R4518:Galnt3	UTSW	2	65,923,954 (GRCm39)	missense	probably damaging	1.00
R4519:Galnt3	UTSW	2	65,923,954 (GRCm39)	missense	probably damaging	1.00
R4577:Galnt3	UTSW	2	65,928,203 (GRCm39)	missense	probably benign	0.02
R4817:Galnt3	UTSW	2	65,923,883 (GRCm39)	missense	possibly damaging	0.83
R5008:Galnt3	UTSW	2	65,915,585 (GRCm39)	missense	probably benign	0.04
R5191:Galnt3	UTSW	2	65,924,050 (GRCm39)	missense	probably damaging	1.00
R5947:Galnt3	UTSW	2	65,914,500 (GRCm39)	utr 3 prime	probably benign
R6534:Galnt3	UTSW	2	65,932,875 (GRCm39)	missense	probably damaging	1.00
R7196:Galnt3	UTSW	2	65,921,268 (GRCm39)	missense	probably damaging	1.00
R7817:Galnt3	UTSW	2	65,926,243 (GRCm39)	missense	probably damaging	1.00
R7951:Galnt3	UTSW	2	65,928,186 (GRCm39)	missense	probably benign	0.00
R7952:Galnt3	UTSW	2	65,928,186 (GRCm39)	missense	probably benign	0.00
R8071:Galnt3	UTSW	2	65,921,555 (GRCm39)	missense	probably benign	0.28
R8513:Galnt3	UTSW	2	65,924,064 (GRCm39)	nonsense	probably null
R8844:Galnt3	UTSW	2	65,915,636 (GRCm39)	missense	probably benign

Posted On

2014-05-07