Mutagenetix > Incidental Mutation

Incidental Mutation 'R2007:Galnt6'

222555

Institutional Source

Beutler Lab

Gene Symbol

Galnt6

Ensembl Gene

ENSMUSG00000037280

Gene Name

polypeptide N-acetylgalactosaminyltransferase 6

Synonyms

GalNAc-T6

MMRRC Submission

040016-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

R2007 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100691813-100729376 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100697166 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 485 (Y485N)

Ref Sequence

ENSEMBL: ENSMUSP00000124793 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052069] [ENSMUST00000159715] [ENSMUST00000161514]

AlphaFold

Q8C7U7

Predicted Effect

probably damaging
Transcript: ENSMUST00000052069
AA Change: Y485N

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

SMART Domains

Protein: ENSMUSP00000056705
Gene: ENSMUSG00000037280
AA Change: Y485N

Domain	Start	End	E-Value	Type
low complexity region	1	16	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	177	431	4.2e-10	PFAM
Pfam:Glycos_transf_2	180	366	8.8e-36	PFAM
Pfam:Glyco_transf_7C	337	415	8.5e-14	PFAM
RICIN	496	622	1.53e-27	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000159715
AA Change: Y485N

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

SMART Domains

Protein: ENSMUSP00000123848
Gene: ENSMUSG00000037280
AA Change: Y485N

Domain	Start	End	E-Value	Type
low complexity region	1	16	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	177	432	1e-10	PFAM
Pfam:Glycos_transf_2	180	366	4.1e-31	PFAM
Pfam:Glyco_transf_7C	337	415	6.7e-13	PFAM
RICIN	496	622	1.53e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160960

Predicted Effect

probably damaging
Transcript: ENSMUST00000161514
AA Change: Y485N

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

SMART Domains

Protein: ENSMUSP00000124793
Gene: ENSMUSG00000037280
AA Change: Y485N

Domain	Start	End	E-Value	Type
low complexity region	1	16	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	177	431	4.2e-10	PFAM
Pfam:Glycos_transf_2	180	366	8.8e-36	PFAM
Pfam:Glyco_transf_7C	337	415	8.5e-14	PFAM
RICIN	496	622	1.53e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229410

Meta Mutation Damage Score

0.9679

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

96% (66/69)

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 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. The encoded protein is capable of glycosylating fibronectin peptide in vitro and is expressed in a fibroblast cell line, indicating that it may be involved in the synthesis of oncofetal fibronectin. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,542,892	N1387K	probably benign	Het
Abca13	T	C	11: 9,191,987	F8L	probably benign	Het
Abcg5	G	T	17: 84,669,920	L270M	probably damaging	Het
Acad10	A	G	5: 121,634,751	L489S	probably damaging	Het
Acsf2	G	A	11: 94,571,640	T183I	possibly damaging	Het
Adamts7	A	T	9: 90,177,856	E282V	probably damaging	Het
Adcy4	C	T	14: 55,778,313	G440R	possibly damaging	Het
AI429214	G	A	8: 36,993,769	V24I	probably benign	Het
Angptl3	T	C	4: 99,037,397	I320T	probably damaging	Het
Apoa5	A	T	9: 46,270,367	Q247L	possibly damaging	Het
Astn1	T	G	1: 158,609,305	V811G	probably damaging	Het
Bard1	C	T	1: 71,031,403	V641I	probably benign	Het
Calb2	T	C	8: 110,168,070	E23G	probably benign	Het
Cdkl4	A	G	17: 80,556,301		probably benign	Het
Cep85l	A	G	10: 53,278,075		probably benign	Het
Chd1	G	T	17: 15,731,006	G281V	probably damaging	Het
Col17a1	C	T	19: 47,667,702	G586E	probably damaging	Het
Cpne3	T	A	4: 19,553,833	D66V	probably damaging	Het
Csde1	A	T	3: 103,044,791	I204L	probably damaging	Het
Dchs1	A	T	7: 105,755,325	V2670E	probably damaging	Het
Ddx10	A	G	9: 53,213,278	V428A	probably benign	Het
Dgkh	T	A	14: 78,603,049	D530V	probably benign	Het
Dis3l	A	T	9: 64,308,276		probably null	Het
Dst	T	G	1: 34,226,012		probably benign	Het
Eml6	C	T	11: 29,848,814		probably null	Het
En1	A	T	1: 120,603,404	E124D	probably benign	Het
Exo1	G	A	1: 175,908,530	E827K	probably damaging	Het
Fktn	T	C	4: 53,735,099	F246L	possibly damaging	Het
Fndc1	G	A	17: 7,778,748		probably benign	Het
Foxp2	G	A	6: 15,396,819	C381Y	probably damaging	Het
Gemin4	G	A	11: 76,212,618	A439V	possibly damaging	Het
Gpatch8	A	G	11: 102,500,831	I155T	unknown	Het
Hmcn2	A	G	2: 31,438,255	D4316G	possibly damaging	Het
Hnrnpr	T	A	4: 136,319,513		probably benign	Het
Hpx	G	A	7: 105,595,574	R135C	probably damaging	Het
Khdrbs2	T	G	1: 32,520,548	E151A	probably benign	Het
Krt6b	A	T	15: 101,678,127	L309H	probably damaging	Het
Lce1c	G	T	3: 92,680,458	C64F	unknown	Het
Maats1	T	C	16: 38,298,254	I728V	probably benign	Het
March6	C	T	15: 31,461,941		probably null	Het
Myt1	C	A	2: 181,795,759	R88S	probably benign	Het
Nemp1	A	G	10: 127,693,577	S194G	probably benign	Het
Nphp4	A	G	4: 152,554,654	K914R	probably damaging	Het
Olfr410	T	A	11: 74,334,386	T282S	possibly damaging	Het
Osbp	T	C	19: 11,973,901	M270T	probably benign	Het
Parg	T	C	14: 32,210,574	M457T	possibly damaging	Het
Phf20	T	C	2: 156,287,954	M482T	probably benign	Het
Pik3c2a	G	A	7: 116,342,237	T1598I	probably damaging	Het
Pkd1	T	C	17: 24,579,785	M2689T	probably damaging	Het
Plxnd1	A	T	6: 115,967,255	V1091E	probably damaging	Het
Ptcd2	A	T	13: 99,320,236	L360Q	probably damaging	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Serpinc1	A	T	1: 160,993,540	T65S	probably benign	Het
Sipa1l2	G	A	8: 125,439,437	T1486I	probably damaging	Het
Snrnp200	T	C	2: 127,227,048	L949P	probably damaging	Het
Ssc5d	T	G	7: 4,928,629	C278W	probably damaging	Het
Tbc1d14	T	G	5: 36,571,374	H216P	possibly damaging	Het
Tmem183a	A	G	1: 134,350,123	F301S	probably damaging	Het
Tmem233	A	C	5: 116,051,437	N94K	possibly damaging	Het
Tmprss13	A	G	9: 45,332,545	D193G	probably damaging	Het
Tprkb	T	C	6: 85,933,048		probably benign	Het
Tram1l1	A	G	3: 124,321,839	H216R	possibly damaging	Het
Ttn	A	G	2: 76,734,140	V28551A	probably damaging	Het
Ubtfl1	A	G	9: 18,409,251	N25S	possibly damaging	Het
Unc80	C	A	1: 66,503,776	N396K	probably damaging	Het
Vmn1r171	T	C	7: 23,632,587	L79P	probably damaging	Het
Vmn2r115	G	T	17: 23,347,953	V480F	possibly damaging	Het
Xpo4	T	C	14: 57,586,644	I995V	probably null	Het

Other mutations in Galnt6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02024:Galnt6	APN	15	100703493	missense	probably benign	0.16
IGL02606:Galnt6	APN	15	100714219	missense	probably damaging	1.00
R0325:Galnt6	UTSW	15	100693471	splice site	probably null
R0336:Galnt6	UTSW	15	100699206	missense	probably damaging	0.99
R0504:Galnt6	UTSW	15	100696657	splice site	probably benign
R1563:Galnt6	UTSW	15	100703378	missense	probably benign	0.00
R1903:Galnt6	UTSW	15	100716118	missense	possibly damaging	0.79
R2114:Galnt6	UTSW	15	100714241	missense	probably damaging	1.00
R2943:Galnt6	UTSW	15	100714279	splice site	probably null
R3410:Galnt6	UTSW	15	100699137	missense	probably damaging	1.00
R3954:Galnt6	UTSW	15	100697168	missense	possibly damaging	0.72
R4754:Galnt6	UTSW	15	100699224	missense	probably damaging	1.00
R4910:Galnt6	UTSW	15	100716178	missense	probably benign
R4911:Galnt6	UTSW	15	100716178	missense	probably benign
R4962:Galnt6	UTSW	15	100696574	nonsense	probably null
R5237:Galnt6	UTSW	15	100693393	missense	probably damaging	1.00
R5293:Galnt6	UTSW	15	100703501	missense	probably benign	0.00
R5605:Galnt6	UTSW	15	100697225	missense	probably damaging	1.00
R5752:Galnt6	UTSW	15	100704126	missense	probably damaging	1.00
R5837:Galnt6	UTSW	15	100694646	missense	possibly damaging	0.70
R5949:Galnt6	UTSW	15	100696550	missense	probably damaging	1.00
R6051:Galnt6	UTSW	15	100694668	missense	probably damaging	1.00
R6306:Galnt6	UTSW	15	100693424	missense	possibly damaging	0.70
R6522:Galnt6	UTSW	15	100693355	makesense	probably null
R6959:Galnt6	UTSW	15	100714125	missense	probably damaging	0.99
R7154:Galnt6	UTSW	15	100693464	missense	probably benign	0.05
R7450:Galnt6	UTSW	15	100697815	missense	probably damaging	1.00
R7834:Galnt6	UTSW	15	100714103	missense	probably damaging	1.00
R7908:Galnt6	UTSW	15	100703361	missense	probably damaging	1.00
R8143:Galnt6	UTSW	15	100716207	missense	probably damaging	0.98
R8212:Galnt6	UTSW	15	100693427	missense	probably benign	0.35
R8683:Galnt6	UTSW	15	100694722	missense	probably damaging	1.00
R8712:Galnt6	UTSW	15	100694620	missense	probably benign	0.01
R8906:Galnt6	UTSW	15	100703366	missense	probably damaging	1.00
R9294:Galnt6	UTSW	15	100704151	missense	possibly damaging	0.94
R9794:Galnt6	UTSW	15	100697978	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATTGGGTCCTTAACTGCTGG -3'
(R):5'- TAAGACAGATACTGCGGCGTG -3'

Sequencing Primer
(F):5'- GTCCTTAACTGCTGGACGAAC -3'
(R):5'- AGATACTGCGGCGTGTCAAC -3'

Posted On

2014-08-25