Mutagenetix > Incidental Mutation

Incidental Mutation 'R9794:Galnt6'

734849

Institutional Source

Beutler Lab

Gene Symbol

Galnt6

Ensembl Gene

ENSMUSG00000037280

Gene Name

polypeptide N-acetylgalactosaminyltransferase 6

Synonyms

GalNAc-T6

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R9794 (G1)

Quality Score

100.008

Status

Not validated

Chromosome

Chromosomal Location

100589694-100627257 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100595859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 390 (V390L)

Ref Sequence

ENSEMBL: ENSMUSP00000056705 (fasta)

Gene Model

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

AlphaFold

Q8C7U7

Predicted Effect

probably damaging
Transcript: ENSMUST00000052069
AA Change: V390L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056705
Gene: ENSMUSG00000037280
AA Change: V390L

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: V390L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123848
Gene: ENSMUSG00000037280
AA Change: V390L

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

probably damaging
Transcript: ENSMUST00000161514
AA Change: V390L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124793
Gene: ENSMUSG00000037280
AA Change: V390L

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	A	14: 70,395,038 (GRCm39)	I39L	possibly damaging	Het
Acacb	T	C	5: 114,387,578 (GRCm39)	V2415A	probably benign	Het
Adgrg6	C	A	10: 14,314,196 (GRCm39)	G669C	probably damaging	Het
Ahcyl	A	G	16: 45,974,342 (GRCm39)	V345A	probably benign	Het
Arhgdib	A	G	6: 136,906,608 (GRCm39)		probably null	Het
Arhgef18	G	A	8: 3,501,634 (GRCm39)	V643I	probably benign	Het
Aspm	T	A	1: 139,406,480 (GRCm39)	I1789N	probably damaging	Het
Atm	C	T	9: 53,429,867 (GRCm39)	V390I	probably benign	Het
AW554918	A	G	18: 25,337,031 (GRCm39)	E148G	probably damaging	Het
Bmal2	T	A	6: 146,734,033 (GRCm39)	D543E	probably benign	Het
Camk2a	T	C	18: 61,097,031 (GRCm39)	V327A	probably benign	Het
Celsr3	T	C	9: 108,728,502 (GRCm39)	V3302A	probably benign	Het
Ces2a	G	A	8: 105,467,896 (GRCm39)	V509M	probably benign	Het
Cpa5	T	C	6: 30,625,920 (GRCm39)		probably null	Het
Cplx3	A	T	9: 57,509,522 (GRCm39)	*159R	probably null	Het
Cyp2b23	A	T	7: 26,381,121 (GRCm39)	Y79N	probably benign	Het
Dapk1	A	G	13: 60,909,082 (GRCm39)	T1232A	probably damaging	Het
Dsg3	A	T	18: 20,673,154 (GRCm39)	T942S	probably benign	Het
Efnb3	G	A	11: 69,448,232 (GRCm39)	P70L	probably damaging	Het
Eln	G	T	5: 134,751,352 (GRCm39)	Y280*	probably null	Het
Epha8	G	T	4: 136,666,035 (GRCm39)	H374N	probably benign	Het
Erbin	A	T	13: 103,971,359 (GRCm39)	D752E	probably benign	Het
Fam149a	A	G	8: 45,834,449 (GRCm39)	S117P	possibly damaging	Het
Fchsd2	G	A	7: 100,893,410 (GRCm39)	C304Y	probably benign	Het
Grk3	T	C	5: 113,121,448 (GRCm39)		probably null	Het
Il17rc	A	T	6: 113,453,726 (GRCm39)	T237S	probably benign	Het
Inpp5b	A	G	4: 124,687,174 (GRCm39)	D800G	probably damaging	Het
Itga11	A	G	9: 62,662,868 (GRCm39)	N528S	probably benign	Het
Kif19b	T	A	5: 140,448,070 (GRCm39)		probably null	Het
Lancl2	T	A	6: 57,714,708 (GRCm39)	F442L	probably benign	Het
Ldah	G	T	12: 8,318,430 (GRCm39)	A180S	possibly damaging	Het
Lingo1	T	C	9: 56,528,592 (GRCm39)	E5G	probably benign	Het
Lingo3	T	C	10: 80,670,707 (GRCm39)	I408V	possibly damaging	Het
Liph	A	T	16: 21,774,862 (GRCm39)	L445Q	probably damaging	Het
Lonrf1	A	G	8: 36,703,235 (GRCm39)	Y314H	probably damaging	Het
Lrit3	A	T	3: 129,594,073 (GRCm39)	L168Q	probably damaging	Het
Mideas	T	A	12: 84,220,576 (GRCm39)	Q126L	probably damaging	Het
Mylk4	G	T	13: 32,899,950 (GRCm39)	T312K	probably damaging	Het
Myzap	A	T	9: 71,487,082 (GRCm39)	M15K	probably benign	Het
Ngf	G	A	3: 102,428,132 (GRCm39)	V298M	probably damaging	Het
Nlrp9a	A	G	7: 26,264,302 (GRCm39)	I741V	probably benign	Het
Nrxn2	T	C	19: 6,567,064 (GRCm39)	V1313A	possibly damaging	Het
Nuf2	C	T	1: 169,334,954 (GRCm39)		probably null	Het
Or13a27	G	A	7: 139,925,483 (GRCm39)	Q140*	probably null	Het
Or5m8	A	G	2: 85,822,464 (GRCm39)	Y101C	probably benign	Het
Pcdh17	C	T	14: 84,770,350 (GRCm39)	R943*	probably null	Het
Phykpl	A	T	11: 51,489,212 (GRCm39)	H346L	probably benign	Het
Plk4	C	A	3: 40,759,535 (GRCm39)	L144I	probably damaging	Het
Pole	C	A	5: 110,466,201 (GRCm39)	P1301Q	probably benign	Het
Prkch	T	A	12: 73,744,744 (GRCm39)	N252K	possibly damaging	Het
Psen2	A	T	1: 180,068,294 (GRCm39)		probably null	Het
Ptgds	C	A	2: 25,359,129 (GRCm39)	R42L	probably benign	Het
Ptprz1	A	G	6: 23,000,204 (GRCm39)	T765A	probably benign	Het
Rab6b	T	C	9: 103,041,061 (GRCm39)	F152L	possibly damaging	Het
Rbm12b2	T	A	4: 12,095,335 (GRCm39)	F731L	probably damaging	Het
Resf1	T	A	6: 149,228,239 (GRCm39)	Y428*	probably null	Het
Rnf32	T	C	5: 29,429,125 (GRCm39)	I234T	probably damaging	Het
Scart2	G	A	7: 139,874,716 (GRCm39)	G398D	probably damaging	Het
Scn8a	T	A	15: 100,933,332 (GRCm39)	I1512N	probably benign	Het
Senp6	T	A	9: 79,999,590 (GRCm39)	D81E	probably benign	Het
Slc26a7	T	G	4: 14,590,416 (GRCm39)	N125T	possibly damaging	Het
Sptlc1	A	T	13: 53,512,803 (GRCm39)	I185N	possibly damaging	Het
Syne2	C	A	12: 76,047,617 (GRCm39)	H4013N	probably benign	Het
Tbc1d9b	T	C	11: 50,062,005 (GRCm39)	V1171A	probably benign	Het
Tmem63b	T	C	17: 45,977,252 (GRCm39)	N417S	probably benign	Het
Ttn	A	G	2: 76,706,193 (GRCm39)	V9176A	unknown	Het
Vmn1r210	T	C	13: 23,011,432 (GRCm39)	I285V	probably damaging	Het
Wbp11	C	T	6: 136,795,021 (GRCm39)	V308I	possibly damaging	Het
Wnk2	A	C	13: 49,229,674 (GRCm39)	V950G	probably benign	Het
Zfp110	A	G	7: 12,578,521 (GRCm39)	N144S	probably benign	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
R2007:Galnt6	UTSW	15	100,595,047 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TGGACCATCTTTGCTGCCTG -3'
(R):5'- TCTTCTCTGAAGTGAACCGTG -3'

Sequencing Primer
(F):5'- GCCTGCAGATTTCTCCTGTAG -3'
(R):5'- TCTGAAGTGAACCGTGGTAGCATC -3'

Posted On

2022-11-14