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: 0.193) question?

Stock #

R2007 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100589694-100627257 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100595047 bp (GRCm39)

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: 128,519,855 (GRCm39)	N1387K	probably benign	Het
Abca13	T	C	11: 9,141,987 (GRCm39)	F8L	probably benign	Het
Abcg5	G	T	17: 84,977,348 (GRCm39)	L270M	probably damaging	Het
Acad10	A	G	5: 121,772,814 (GRCm39)	L489S	probably damaging	Het
Acsf2	G	A	11: 94,462,466 (GRCm39)	T183I	possibly damaging	Het
Adamts7	A	T	9: 90,059,909 (GRCm39)	E282V	probably damaging	Het
Adcy4	C	T	14: 56,015,770 (GRCm39)	G440R	possibly damaging	Het
AI429214	G	A	8: 37,460,923 (GRCm39)	V24I	probably benign	Het
Angptl3	T	C	4: 98,925,634 (GRCm39)	I320T	probably damaging	Het
Apoa5	A	T	9: 46,181,665 (GRCm39)	Q247L	possibly damaging	Het
Astn1	T	G	1: 158,436,875 (GRCm39)	V811G	probably damaging	Het
Bard1	C	T	1: 71,070,562 (GRCm39)	V641I	probably benign	Het
Calb2	T	C	8: 110,894,702 (GRCm39)	E23G	probably benign	Het
Cdkl4	A	G	17: 80,863,730 (GRCm39)		probably benign	Het
Cep85l	A	G	10: 53,154,171 (GRCm39)		probably benign	Het
Cfap91	T	C	16: 38,118,616 (GRCm39)	I728V	probably benign	Het
Chd1	G	T	17: 15,951,268 (GRCm39)	G281V	probably damaging	Het
Col17a1	C	T	19: 47,656,141 (GRCm39)	G586E	probably damaging	Het
Cpne3	T	A	4: 19,553,833 (GRCm39)	D66V	probably damaging	Het
Csde1	A	T	3: 102,952,107 (GRCm39)	I204L	probably damaging	Het
Dchs1	A	T	7: 105,404,532 (GRCm39)	V2670E	probably damaging	Het
Ddx10	A	G	9: 53,124,578 (GRCm39)	V428A	probably benign	Het
Dgkh	T	A	14: 78,840,489 (GRCm39)	D530V	probably benign	Het
Dis3l	A	T	9: 64,215,558 (GRCm39)		probably null	Het
Dst	T	G	1: 34,265,093 (GRCm39)		probably benign	Het
Eml6	C	T	11: 29,798,814 (GRCm39)		probably null	Het
En1	A	T	1: 120,531,133 (GRCm39)	E124D	probably benign	Het
Exo1	G	A	1: 175,736,096 (GRCm39)	E827K	probably damaging	Het
Fktn	T	C	4: 53,735,099 (GRCm39)	F246L	possibly damaging	Het
Fndc1	G	A	17: 7,997,580 (GRCm39)		probably benign	Het
Foxp2	G	A	6: 15,396,818 (GRCm39)	C381Y	probably damaging	Het
Gemin4	G	A	11: 76,103,444 (GRCm39)	A439V	possibly damaging	Het
Gpatch8	A	G	11: 102,391,657 (GRCm39)	I155T	unknown	Het
Hmcn2	A	G	2: 31,328,267 (GRCm39)	D4316G	possibly damaging	Het
Hnrnpr	T	A	4: 136,046,824 (GRCm39)		probably benign	Het
Hpx	G	A	7: 105,244,781 (GRCm39)	R135C	probably damaging	Het
Khdrbs2	T	G	1: 32,559,629 (GRCm39)	E151A	probably benign	Het
Krt6b	A	T	15: 101,586,562 (GRCm39)	L309H	probably damaging	Het
Lce1c	G	T	3: 92,587,765 (GRCm39)	C64F	unknown	Het
Marchf6	C	T	15: 31,462,087 (GRCm39)		probably null	Het
Myt1	C	A	2: 181,437,552 (GRCm39)	R88S	probably benign	Het
Nemp1	A	G	10: 127,529,446 (GRCm39)	S194G	probably benign	Het
Nphp4	A	G	4: 152,639,111 (GRCm39)	K914R	probably damaging	Het
Or3a1	T	A	11: 74,225,212 (GRCm39)	T282S	possibly damaging	Het
Osbp	T	C	19: 11,951,265 (GRCm39)	M270T	probably benign	Het
Parg	T	C	14: 31,932,531 (GRCm39)	M457T	possibly damaging	Het
Phf20	T	C	2: 156,129,874 (GRCm39)	M482T	probably benign	Het
Pik3c2a	G	A	7: 115,941,472 (GRCm39)	T1598I	probably damaging	Het
Pkd1	T	C	17: 24,798,759 (GRCm39)	M2689T	probably damaging	Het
Plxnd1	A	T	6: 115,944,216 (GRCm39)	V1091E	probably damaging	Het
Ptcd2	A	T	13: 99,456,744 (GRCm39)	L360Q	probably damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Serpinc1	A	T	1: 160,821,110 (GRCm39)	T65S	probably benign	Het
Sipa1l2	G	A	8: 126,166,176 (GRCm39)	T1486I	probably damaging	Het
Snrnp200	T	C	2: 127,068,968 (GRCm39)	L949P	probably damaging	Het
Ssc5d	T	G	7: 4,931,628 (GRCm39)	C278W	probably damaging	Het
Tbc1d14	T	G	5: 36,728,718 (GRCm39)	H216P	possibly damaging	Het
Tmem183a	A	G	1: 134,277,861 (GRCm39)	F301S	probably damaging	Het
Tmem233	A	C	5: 116,189,496 (GRCm39)	N94K	possibly damaging	Het
Tmprss13	A	G	9: 45,243,843 (GRCm39)	D193G	probably damaging	Het
Tprkb	T	C	6: 85,910,030 (GRCm39)		probably benign	Het
Tram1l1	A	G	3: 124,115,488 (GRCm39)	H216R	possibly damaging	Het
Ttn	A	G	2: 76,564,484 (GRCm39)	V28551A	probably damaging	Het
Ubtfl1	A	G	9: 18,320,547 (GRCm39)	N25S	possibly damaging	Het
Unc80	C	A	1: 66,542,935 (GRCm39)	N396K	probably damaging	Het
Vmn1r171	T	C	7: 23,332,012 (GRCm39)	L79P	probably damaging	Het
Vmn2r115	G	T	17: 23,566,927 (GRCm39)	V480F	possibly damaging	Het
Xpo4	T	C	14: 57,824,101 (GRCm39)	I995V	probably null	Het

Other mutations in Galnt6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02024:Galnt6	APN	15	100,601,374 (GRCm39)	missense	probably benign	0.16
IGL02606:Galnt6	APN	15	100,612,100 (GRCm39)	missense	probably damaging	1.00
R0325:Galnt6	UTSW	15	100,591,352 (GRCm39)	splice site	probably null
R0336:Galnt6	UTSW	15	100,597,087 (GRCm39)	missense	probably damaging	0.99
R0504:Galnt6	UTSW	15	100,594,538 (GRCm39)	splice site	probably benign
R1563:Galnt6	UTSW	15	100,601,259 (GRCm39)	missense	probably benign	0.00
R1903:Galnt6	UTSW	15	100,613,999 (GRCm39)	missense	possibly damaging	0.79
R2114:Galnt6	UTSW	15	100,612,122 (GRCm39)	missense	probably damaging	1.00
R2943:Galnt6	UTSW	15	100,612,160 (GRCm39)	splice site	probably null
R3410:Galnt6	UTSW	15	100,597,018 (GRCm39)	missense	probably damaging	1.00
R3954:Galnt6	UTSW	15	100,595,049 (GRCm39)	missense	possibly damaging	0.72
R4754:Galnt6	UTSW	15	100,597,105 (GRCm39)	missense	probably damaging	1.00
R4910:Galnt6	UTSW	15	100,614,059 (GRCm39)	missense	probably benign
R4911:Galnt6	UTSW	15	100,614,059 (GRCm39)	missense	probably benign
R4962:Galnt6	UTSW	15	100,594,455 (GRCm39)	nonsense	probably null
R5237:Galnt6	UTSW	15	100,591,274 (GRCm39)	missense	probably damaging	1.00
R5293:Galnt6	UTSW	15	100,601,382 (GRCm39)	missense	probably benign	0.00
R5605:Galnt6	UTSW	15	100,595,106 (GRCm39)	missense	probably damaging	1.00
R5752:Galnt6	UTSW	15	100,602,007 (GRCm39)	missense	probably damaging	1.00
R5837:Galnt6	UTSW	15	100,592,527 (GRCm39)	missense	possibly damaging	0.70
R5949:Galnt6	UTSW	15	100,594,431 (GRCm39)	missense	probably damaging	1.00
R6051:Galnt6	UTSW	15	100,592,549 (GRCm39)	missense	probably damaging	1.00
R6306:Galnt6	UTSW	15	100,591,305 (GRCm39)	missense	possibly damaging	0.70
R6522:Galnt6	UTSW	15	100,591,236 (GRCm39)	makesense	probably null
R6959:Galnt6	UTSW	15	100,612,006 (GRCm39)	missense	probably damaging	0.99
R7154:Galnt6	UTSW	15	100,591,345 (GRCm39)	missense	probably benign	0.05
R7450:Galnt6	UTSW	15	100,595,696 (GRCm39)	missense	probably damaging	1.00
R7834:Galnt6	UTSW	15	100,611,984 (GRCm39)	missense	probably damaging	1.00
R7908:Galnt6	UTSW	15	100,601,242 (GRCm39)	missense	probably damaging	1.00
R8143:Galnt6	UTSW	15	100,614,088 (GRCm39)	missense	probably damaging	0.98
R8212:Galnt6	UTSW	15	100,591,308 (GRCm39)	missense	probably benign	0.35
R8683:Galnt6	UTSW	15	100,592,603 (GRCm39)	missense	probably damaging	1.00
R8712:Galnt6	UTSW	15	100,592,501 (GRCm39)	missense	probably benign	0.01
R8906:Galnt6	UTSW	15	100,601,247 (GRCm39)	missense	probably damaging	1.00
R9294:Galnt6	UTSW	15	100,602,032 (GRCm39)	missense	possibly damaging	0.94
R9794:Galnt6	UTSW	15	100,595,859 (GRCm39)	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