Mutagenetix > Incidental Mutation

Incidental Mutation 'R7834:Galnt6'

605882

Institutional Source

Beutler Lab

Gene Symbol

Galnt6

Ensembl Gene

ENSMUSG00000037280

Gene Name

polypeptide N-acetylgalactosaminyltransferase 6

Synonyms

GalNAc-T6

MMRRC Submission

045888-MU

Accession Numbers

Essential gene?

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

Stock #

R7834 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100589694-100627257 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 100611984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 219 (S219R)

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: S219R

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

SMART Domains

Protein: ENSMUSP00000056705
Gene: ENSMUSG00000037280
AA Change: S219R

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: S219R

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

SMART Domains

Protein: ENSMUSP00000123848
Gene: ENSMUSG00000037280
AA Change: S219R

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: S219R

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

SMART Domains

Protein: ENSMUSP00000124793
Gene: ENSMUSG00000037280
AA Change: S219R

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

Meta Mutation Damage Score

0.9268

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,115,068 (GRCm39)	I626N	probably damaging	Het
Abcc12	T	A	8: 87,258,179 (GRCm39)	Y779F	possibly damaging	Het
Abcc12	C	T	8: 87,284,859 (GRCm39)	C252Y	probably damaging	Het
Adam22	A	T	5: 8,180,535 (GRCm39)	C521S	probably damaging	Het
Adcy5	C	A	16: 34,977,570 (GRCm39)	H368N	probably benign	Het
Akap13	T	A	7: 75,392,390 (GRCm39)	I2411N	possibly damaging	Het
Ankrd12	A	G	17: 66,294,347 (GRCm39)	F339S	probably damaging	Het
Bmp1	T	A	14: 70,746,005 (GRCm39)	R153W	probably damaging	Het
Bmp6	T	C	13: 38,653,643 (GRCm39)	F237L	probably damaging	Het
Cacna1c	A	G	6: 118,587,542 (GRCm39)	S1628P		Het
Ccdc141	T	C	2: 76,889,889 (GRCm39)	R468G	possibly damaging	Het
Cdc40	A	T	10: 40,758,945 (GRCm39)	S43T	probably benign	Het
Celf4	A	G	18: 25,886,542 (GRCm39)	M48T	probably benign	Het
Clec4g	A	T	8: 3,766,500 (GRCm39)	M267K	probably damaging	Het
Col6a1	G	T	10: 76,545,762 (GRCm39)	S903R	unknown	Het
Creg2	A	G	1: 39,689,802 (GRCm39)	F103L	probably damaging	Het
Cul9	T	C	17: 46,836,630 (GRCm39)		probably null	Het
Dchs1	G	A	7: 105,414,774 (GRCm39)	A756V	probably benign	Het
Diaph1	G	A	18: 37,986,762 (GRCm39)		probably benign	Het
Dmxl1	G	A	18: 50,054,044 (GRCm39)	G2550D	probably damaging	Het
Dst	G	T	1: 34,233,186 (GRCm39)	R3396I	probably benign	Het
Dync2h1	T	C	9: 7,118,953 (GRCm39)	T2171A	probably benign	Het
Fgd2	C	T	17: 29,583,925 (GRCm39)	T113M	probably damaging	Het
Gbp6	T	A	5: 105,421,131 (GRCm39)	E558V	probably benign	Het
Gnas	A	T	2: 174,140,783 (GRCm39)	K377*	probably null	Het
Hars2	T	C	18: 36,922,634 (GRCm39)	I389T	probably damaging	Het
Hsp90ab1	T	C	17: 45,882,091 (GRCm39)	I123V	possibly damaging	Het
Igkv6-14	A	T	6: 70,411,992 (GRCm39)	N97K	possibly damaging	Het
Isg20	T	C	7: 78,569,867 (GRCm39)	L168P	probably damaging	Het
Kcna1	C	T	6: 126,619,703 (GRCm39)	D206N	probably benign	Het
Kcnn3	A	G	3: 89,428,661 (GRCm39)	I296V	probably damaging	Het
Kif18a	G	A	2: 109,127,119 (GRCm39)	R351H	probably damaging	Het
Klra5	A	T	6: 129,876,253 (GRCm39)		probably null	Het
Krt9	T	C	11: 100,083,492 (GRCm39)	T180A	probably benign	Het
Lhx8	T	C	3: 154,017,174 (GRCm39)	S323G	probably null	Het
Lpcat2	T	A	8: 93,644,729 (GRCm39)	L506H	possibly damaging	Het
Map2	A	G	1: 66,455,647 (GRCm39)	E1447G	probably damaging	Het
Mapk8ip2	A	T	15: 89,345,576 (GRCm39)	I779F	probably damaging	Het
Mcmdc2	G	A	1: 9,982,399 (GRCm39)		probably null	Het
Mrps15	G	A	4: 125,949,182 (GRCm39)	E217K	probably damaging	Het
Muc5b	G	A	7: 141,412,807 (GRCm39)	G1918R	unknown	Het
Mug2	T	C	6: 122,013,241 (GRCm39)	I336T	probably benign	Het
Myh10	T	C	11: 68,676,652 (GRCm39)	V878A	probably damaging	Het
Nomo1	T	C	7: 45,706,162 (GRCm39)		probably null	Het
Ogdhl	T	A	14: 32,062,666 (GRCm39)	I584N	probably benign	Het
Pdzrn3	G	A	6: 101,128,156 (GRCm39)	R837C	probably damaging	Het
Pkhd1	A	G	1: 20,382,273 (GRCm39)	M2626T	probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Pml	C	A	9: 58,141,968 (GRCm39)	R288L	probably benign	Het
Pnliprp2	T	C	19: 58,762,591 (GRCm39)	S399P	probably benign	Het
Prelp	T	C	1: 133,842,510 (GRCm39)	T212A	probably damaging	Het
Ptpn13	T	A	5: 103,610,014 (GRCm39)	S4T	probably damaging	Het
Ptprb	A	C	10: 116,175,329 (GRCm39)	E821A	probably benign	Het
Rabgap1	T	C	2: 37,359,419 (GRCm39)		probably benign	Het
Reln	C	T	5: 22,244,633 (GRCm39)	V782M	possibly damaging	Het
Rpl3l	T	C	17: 24,952,437 (GRCm39)	V52A	possibly damaging	Het
Rrp1b	T	C	17: 32,270,698 (GRCm39)	V219A	probably benign	Het
Rtn1	T	A	12: 72,350,806 (GRCm39)	I468F	probably damaging	Het
Safb	T	A	17: 56,900,881 (GRCm39)	M129K	unknown	Het
Sall1	C	A	8: 89,760,002 (GRCm39)	S34I	probably benign	Het
Slc2a8	C	T	2: 32,866,919 (GRCm39)	G227D	probably damaging	Het
Slco4a1	G	T	2: 180,107,470 (GRCm39)	V295L	probably benign	Het
Slfn5	A	T	11: 82,851,278 (GRCm39)	Q525L	possibly damaging	Het
Speg	C	T	1: 75,361,571 (GRCm39)	T195M	probably damaging	Het
Syne2	A	T	12: 76,014,021 (GRCm39)	T3071S	probably benign	Het
Syngr1	G	T	15: 79,995,818 (GRCm39)	W119L	probably damaging	Het
Tenm2	A	G	11: 35,915,681 (GRCm39)	L1951P	probably damaging	Het
Ulk4	C	T	9: 121,092,734 (GRCm39)	E168K	possibly damaging	Het
Ush2a	G	A	1: 188,465,637 (GRCm39)	W2735*	probably null	Het
Usp17lb	T	A	7: 104,490,718 (GRCm39)	T70S	probably damaging	Het
Vmn2r6	T	G	3: 64,445,443 (GRCm39)	N761H	probably damaging	Het
Vps13d	A	T	4: 144,835,143 (GRCm39)	I2741K		Het
Wdr38	A	T	2: 38,890,196 (GRCm39)	Q110L	possibly damaging	Het
Zfp872	A	G	9: 22,111,406 (GRCm39)	K295R	probably damaging	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
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'- AATTCAAAGCTGCAGGACCC -3'
(R):5'- CCAGGTGTGTTGACCAGAAG -3'

Sequencing Primer
(F):5'- TCCTCCTCAGACCAGCGAG -3'
(R):5'- TGTTGACCAGAAGTTCCGGC -3'

Posted On

2019-12-20