Mutagenetix > Incidental Mutation

Incidental Mutation 'R6751:Galnt17'

530764

Institutional Source

Beutler Lab

Gene Symbol

Galnt17

Ensembl Gene

ENSMUSG00000034040

Gene Name

polypeptide N-acetylgalactosaminyltransferase 17

Synonyms

Wbscr17, Gcap8, E330012B09Rik, Galnt19

MMRRC Submission

044868-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6751 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130903181-131336360 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131110428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 304 (I304F)

Ref Sequence

ENSEMBL: ENSMUSP00000083187 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086023] [ENSMUST00000160609]

AlphaFold

Q7TT15

Predicted Effect

probably damaging
Transcript: ENSMUST00000086023
AA Change: I304F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000083187
Gene: ENSMUSG00000034040
AA Change: I304F

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
Pfam:Glycos_transf_2	155	341	9.6e-31	PFAM
Pfam:Glyco_tranf_2_2	155	394	7.8e-8	PFAM
RICIN	465	594	9.77e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000160609
AA Change: I304F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125395
Gene: ENSMUSG00000034040
AA Change: I304F

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
Pfam:Glycos_transf_2	155	341	4.9e-29	PFAM
Pfam:Glyco_tranf_2_2	155	367	3e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160807

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

95% (59/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,771,971 (GRCm39)	N387Y	probably damaging	Het
Abhd17a	T	C	10: 80,422,421 (GRCm39)	E87G	probably damaging	Het
Aco1	T	A	4: 40,188,330 (GRCm39)		probably null	Het
Adcy6	T	C	15: 98,494,086 (GRCm39)	N817S	probably benign	Het
Ak8	T	A	2: 28,599,957 (GRCm39)	L63*	probably null	Het
Arhgef28	G	A	13: 98,211,755 (GRCm39)	S76L	probably damaging	Het
Asap1	A	G	15: 63,966,261 (GRCm39)	L891S	possibly damaging	Het
Cacng5	C	A	11: 107,768,379 (GRCm39)	M209I	probably benign	Het
Casr	T	C	16: 36,335,950 (GRCm39)	I120V	probably benign	Het
Ccnq	T	C	11: 78,641,950 (GRCm39)	Y180C	probably damaging	Het
Chd7	T	C	4: 8,833,866 (GRCm39)	Y1207H	probably damaging	Het
Chrnb2	A	T	3: 89,668,883 (GRCm39)	F144Y	probably damaging	Het
Cyp4a14	T	A	4: 115,348,391 (GRCm39)	H362L	probably damaging	Het
Dnaaf4	A	G	9: 72,869,257 (GRCm39)	T156A	probably benign	Het
Dym	G	A	18: 75,419,718 (GRCm39)	V630M	probably damaging	Het
Dync2i1	A	T	12: 116,177,076 (GRCm39)	V842E	possibly damaging	Het
Dyrk1b	C	A	7: 27,886,134 (GRCm39)	P619Q	probably damaging	Het
Eml5	T	C	12: 98,831,659 (GRCm39)	D433G	probably damaging	Het
Frem2	A	T	3: 53,561,086 (GRCm39)	S1140R	probably damaging	Het
Gabra5	T	C	7: 57,068,082 (GRCm39)	R255G	probably damaging	Het
Gpc5	A	G	14: 115,607,363 (GRCm39)	S322G	probably benign	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,610,269 (GRCm39)	N1467Y	probably damaging	Het
Ifna6	T	C	4: 88,745,987 (GRCm39)	L112P	probably damaging	Het
Ifrd1	C	T	12: 40,253,913 (GRCm39)		probably null	Het
Il17f	A	G	1: 20,849,713 (GRCm39)	M17T	probably benign	Het
Itga11	G	A	9: 62,675,866 (GRCm39)	V892I	probably benign	Het
Nckap5l	A	G	15: 99,321,042 (GRCm39)	L1246P	probably damaging	Het
Nlrp4f	A	T	13: 65,342,243 (GRCm39)	H467Q	probably damaging	Het
Ntng2	A	G	2: 29,118,055 (GRCm39)	V131A	possibly damaging	Het
Or51r1	G	A	7: 102,227,706 (GRCm39)	M1I	probably null	Het
Or8b40	T	G	9: 38,027,271 (GRCm39)	Y60D	probably damaging	Het
Or8g37	T	A	9: 39,731,193 (GRCm39)	V86E	probably benign	Het
Or8g55	T	C	9: 39,784,976 (GRCm39)	V135A	probably benign	Het
Osbpl8	T	C	10: 111,110,874 (GRCm39)	Y459H	possibly damaging	Het
Pabpc1	A	T	15: 36,597,778 (GRCm39)	V537D	possibly damaging	Het
Pde4b	A	T	4: 102,459,868 (GRCm39)	M583L	probably damaging	Het
Phlda1	T	C	10: 111,342,555 (GRCm39)	V97A	possibly damaging	Het
Pik3cb	G	T	9: 98,976,574 (GRCm39)	H174Q	probably benign	Het
Plxdc2	A	T	2: 16,552,952 (GRCm39)	I117F	probably benign	Het
Psapl1	C	A	5: 36,362,303 (GRCm39)	C298*	probably null	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Homo
Rtkn2	T	A	10: 67,877,283 (GRCm39)	F448I	probably benign	Het
Scn10a	T	C	9: 119,500,617 (GRCm39)	R221G	probably damaging	Het
Serpina3c	A	G	12: 104,117,759 (GRCm39)	L193P	probably damaging	Het
Sox12	T	C	2: 152,238,678 (GRCm39)	Y314C	probably damaging	Het
Spata31h1	A	G	10: 82,119,331 (GRCm39)	S4560P	probably benign	Het
Sptbn1	T	C	11: 30,067,859 (GRCm39)	E1772G	probably damaging	Het
Supt6	A	G	11: 78,099,775 (GRCm39)	V1570A	probably benign	Het
Synrg	T	C	11: 83,872,251 (GRCm39)	F125S	probably damaging	Het
Tenm4	A	T	7: 96,494,919 (GRCm39)	I1116F	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Tfap2d	C	A	1: 19,173,507 (GRCm39)	H10N	possibly damaging	Het
Trpm8	T	C	1: 88,312,428 (GRCm39)	I1103T	possibly damaging	Het
Vmn1r158	C	T	7: 22,489,306 (GRCm39)	C301Y	probably damaging	Het
Vmn2r56	T	C	7: 12,428,719 (GRCm39)	I516V	probably benign	Het
Vmn2r71	G	A	7: 85,269,095 (GRCm39)		probably null	Het
Vnn3	C	T	10: 23,745,523 (GRCm39)	R491C	probably benign	Het
Vps50	A	G	6: 3,600,274 (GRCm39)	Y911C	probably damaging	Het
Zfp772	C	T	7: 7,206,716 (GRCm39)	R325Q	possibly damaging	Het
Zranb3	T	A	1: 127,887,556 (GRCm39)	H957L	probably benign	Het
Zscan20	G	T	4: 128,479,668 (GRCm39)	T941K	probably damaging	Het
Zscan25	T	A	5: 145,227,373 (GRCm39)	F346I	probably damaging	Het

Other mutations in Galnt17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01690:Galnt17	APN	5	131,114,734 (GRCm39)	critical splice donor site	probably null
IGL02312:Galnt17	APN	5	131,335,371 (GRCm39)	missense	probably benign	0.09
IGL02744:Galnt17	APN	5	131,140,613 (GRCm39)	missense	probably damaging	0.99
IGL03066:Galnt17	APN	5	130,929,486 (GRCm39)	missense	probably benign
R0744:Galnt17	UTSW	5	131,179,754 (GRCm39)	missense	probably damaging	1.00
R1186:Galnt17	UTSW	5	131,140,580 (GRCm39)	missense	probably damaging	0.98
R1784:Galnt17	UTSW	5	131,179,801 (GRCm39)	missense	probably benign	0.35
R1909:Galnt17	UTSW	5	131,140,676 (GRCm39)	missense	probably benign	0.03
R1969:Galnt17	UTSW	5	131,179,782 (GRCm39)	missense	probably benign	0.19
R2102:Galnt17	UTSW	5	131,114,831 (GRCm39)	missense	probably damaging	1.00
R2158:Galnt17	UTSW	5	130,935,540 (GRCm39)	missense	probably damaging	1.00
R2307:Galnt17	UTSW	5	130,929,460 (GRCm39)	missense	probably damaging	1.00
R2680:Galnt17	UTSW	5	131,140,661 (GRCm39)	missense	probably damaging	0.97
R4549:Galnt17	UTSW	5	131,179,775 (GRCm39)	missense	probably damaging	1.00
R4938:Galnt17	UTSW	5	131,335,237 (GRCm39)	missense	probably benign
R5030:Galnt17	UTSW	5	130,905,351 (GRCm39)	missense	probably damaging	0.98
R5134:Galnt17	UTSW	5	130,992,873 (GRCm39)	missense	probably damaging	1.00
R5499:Galnt17	UTSW	5	130,929,466 (GRCm39)	missense	probably benign	0.28
R5518:Galnt17	UTSW	5	130,929,428 (GRCm39)	missense	probably damaging	1.00
R5662:Galnt17	UTSW	5	131,114,844 (GRCm39)	missense	probably damaging	1.00
R5806:Galnt17	UTSW	5	130,906,657 (GRCm39)	missense	probably damaging	1.00
R6209:Galnt17	UTSW	5	131,110,434 (GRCm39)	missense	probably benign	0.01
R7205:Galnt17	UTSW	5	131,335,590 (GRCm39)	start gained	probably benign
R7212:Galnt17	UTSW	5	130,992,949 (GRCm39)	missense	possibly damaging	0.69
R7529:Galnt17	UTSW	5	131,335,218 (GRCm39)	missense	probably damaging	0.99
R8881:Galnt17	UTSW	5	130,906,635 (GRCm39)	missense	probably benign	0.05
R8976:Galnt17	UTSW	5	130,935,543 (GRCm39)	missense	probably benign	0.01
R9480:Galnt17	UTSW	5	130,935,576 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTATGACCCTAAGACACCGC -3'
(R):5'- AGCTTCAGGAGTCTGCTGAC -3'

Sequencing Primer
(F):5'- AGCTGCTTGCACACCACTG -3'
(R):5'- TTCAGGAGTCTGCTGACCAAGG -3'

Posted On

2018-08-01