Mutagenetix > Incidental Mutation

Incidental Mutation 'R2680:Galnt17'

250908

Institutional Source

Beutler Lab

Gene Symbol

Galnt17

Ensembl Gene

ENSMUSG00000034040

Gene Name

polypeptide N-acetylgalactosaminyltransferase 17

Synonyms

E330012B09Rik, Wbscr17, Galnt19, Gcap8

MMRRC Submission

040433-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130872082-131308497 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 131111823 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 152 (P152L)

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: P152L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000083187
Gene: ENSMUSG00000034040
AA Change: P152L

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

possibly damaging
Transcript: ENSMUST00000160609
AA Change: P152L

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125395
Gene: ENSMUSG00000034040
AA Change: P152L

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430531B16Rik	T	C	7: 139,978,561 (GRCm38)	D41G	probably damaging	Het
BC024139	A	G	15: 76,121,739 (GRCm38)	W421R	probably damaging	Het
Car11	T	C	7: 45,702,485 (GRCm38)	S113P	probably benign	Het
Ccdc146	C	T	5: 21,305,269 (GRCm38)	A582T	possibly damaging	Het
Cct8l1	A	G	5: 25,517,135 (GRCm38)	T283A	probably benign	Het
Ckap5	A	G	2: 91,588,698 (GRCm38)	I1118V	probably benign	Het
Copa	C	T	1: 172,121,404 (GRCm38)	Q1199*	probably null	Het
Cpd	A	T	11: 76,790,999 (GRCm38)	N1140K	probably benign	Het
Cspp1	A	G	1: 10,104,305 (GRCm38)	D661G	probably damaging	Het
Dab2	A	G	15: 6,436,993 (GRCm38)	Q729R	possibly damaging	Het
Dnah9	T	C	11: 66,033,925 (GRCm38)	I2168V	probably benign	Het
Dync1h1	G	A	12: 110,643,247 (GRCm38)	R2821H	probably damaging	Het
Ercc5	T	C	1: 44,156,973 (GRCm38)	V42A	probably benign	Het
Evc	A	G	5: 37,310,237 (GRCm38)	V566A	probably benign	Het
Fcrls	T	C	3: 87,257,349 (GRCm38)	Y290C	probably damaging	Het
Frmd4a	A	G	2: 4,534,553 (GRCm38)	R171G	probably damaging	Het
Gfi1	A	G	5: 107,721,431 (GRCm38)	L245P	probably damaging	Het
Heatr4	T	C	12: 83,980,463 (GRCm38)	K7E	possibly damaging	Het
Ifit3b	A	G	19: 34,612,305 (GRCm38)	N294D	probably benign	Het
Ift74	A	G	4: 94,653,028 (GRCm38)	Y230C	probably damaging	Het
Igsf10	C	T	3: 59,325,454 (GRCm38)	V1953I	probably benign	Het
Ikzf5	T	C	7: 131,396,761 (GRCm38)	D14G	probably damaging	Het
Il12rb2	T	A	6: 67,354,805 (GRCm38)	T259S	possibly damaging	Het
Itgae	T	A	11: 73,114,926 (GRCm38)	D305E	probably damaging	Het
Kif23	A	C	9: 61,937,476 (GRCm38)	D90E	probably benign	Het
Kprp	A	G	3: 92,824,463 (GRCm38)	F427L	unknown	Het
Lmnb1	T	A	18: 56,731,105 (GRCm38)	Y261N	probably damaging	Het
Megf8	T	C	7: 25,317,556 (GRCm38)	V17A	probably benign	Het
Mfap4	T	C	11: 61,487,231 (GRCm38)	Y190H	probably benign	Het
Mlh1	T	C	9: 111,236,017 (GRCm38)		probably null	Het
Mocos	C	A	18: 24,676,629 (GRCm38)	Q430K	probably damaging	Het
Ndst2	A	G	14: 20,724,754 (GRCm38)	F794L	probably damaging	Het
Nedd4l	A	T	18: 65,163,130 (GRCm38)	I197F	possibly damaging	Het
Nefm	A	G	14: 68,123,786 (GRCm38)	L343P	probably damaging	Het
Nfatc4	A	G	14: 55,832,834 (GRCm38)		probably benign	Het
Nlrp4a	T	A	7: 26,449,230 (GRCm38)		probably null	Het
Nlrp4f	A	T	13: 65,194,343 (GRCm38)	L496*	probably null	Het
Nom1	T	C	5: 29,443,417 (GRCm38)	F654S	probably damaging	Het
Olfr730	A	T	14: 50,186,847 (GRCm38)	Y123*	probably null	Het
Pcdhac2	A	G	18: 37,145,586 (GRCm38)	K540E	possibly damaging	Het
Pde4dip	T	C	3: 97,701,617 (GRCm38)	N1974S	possibly damaging	Het
Pik3c3	T	C	18: 30,344,078 (GRCm38)		probably null	Het
Pik3ca	C	T	3: 32,436,548 (GRCm38)	R115*	probably null	Het
Pik3ca	T	C	3: 32,443,885 (GRCm38)	I492T	probably benign	Het
Ppp1ca	G	A	19: 4,194,595 (GRCm38)	E218K	possibly damaging	Het
Prex1	G	T	2: 166,601,772 (GRCm38)	D492E	possibly damaging	Het
Scaf8	T	C	17: 3,197,591 (GRCm38)	V1063A	possibly damaging	Het
Scn3a	G	T	2: 65,536,536 (GRCm38)	N47K	probably benign	Het
Sec61a2	G	T	2: 5,873,745 (GRCm38)	N348K	probably benign	Het
Sh3rf2	A	G	18: 42,101,650 (GRCm38)	E166G	probably damaging	Het
Slc19a2	C	A	1: 164,249,413 (GRCm38)	T54K	probably damaging	Het
Slc8a3	T	A	12: 81,202,339 (GRCm38)	I765F	probably damaging	Het
Snap91	A	T	9: 86,879,550 (GRCm38)	M1K	probably null	Het
Strc	T	C	2: 121,365,111 (GRCm38)	H1619R	probably damaging	Het
Tbl1xr1	C	T	3: 22,191,451 (GRCm38)	T207M	possibly damaging	Het
Tchp	T	C	5: 114,709,519 (GRCm38)		probably null	Het
Tln1	A	T	4: 43,539,668 (GRCm38)	F1581Y	probably damaging	Het
Tnxb	T	C	17: 34,703,620 (GRCm38)	V2469A	possibly damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm38)	P46S	probably benign	Het
Vmn1r225	T	A	17: 20,502,793 (GRCm38)	F165L	probably benign	Het
Vmn2r13	T	C	5: 109,174,312 (GRCm38)	D173G	possibly damaging	Het
Vmn2r6	A	C	3: 64,538,286 (GRCm38)	S673A	possibly damaging	Het
Vta1	G	A	10: 14,705,427 (GRCm38)		probably benign	Het
Wwc1	T	C	11: 35,875,929 (GRCm38)	T500A	probably benign	Het
Zfp784	T	A	7: 5,036,117 (GRCm38)	Q147H	possibly damaging	Het

Other mutations in Galnt17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01690:Galnt17	APN	5	131,085,896 (GRCm38)	critical splice donor site	probably null
IGL02312:Galnt17	APN	5	131,306,533 (GRCm38)	missense	probably benign	0.09
IGL02744:Galnt17	APN	5	131,111,775 (GRCm38)	missense	probably damaging	0.99
IGL03066:Galnt17	APN	5	130,900,648 (GRCm38)	missense	probably benign
R0744:Galnt17	UTSW	5	131,150,916 (GRCm38)	missense	probably damaging	1.00
R1186:Galnt17	UTSW	5	131,111,742 (GRCm38)	missense	probably damaging	0.98
R1784:Galnt17	UTSW	5	131,150,963 (GRCm38)	missense	probably benign	0.35
R1909:Galnt17	UTSW	5	131,111,838 (GRCm38)	missense	probably benign	0.03
R1969:Galnt17	UTSW	5	131,150,944 (GRCm38)	missense	probably benign	0.19
R2102:Galnt17	UTSW	5	131,085,993 (GRCm38)	missense	probably damaging	1.00
R2158:Galnt17	UTSW	5	130,906,702 (GRCm38)	missense	probably damaging	1.00
R2307:Galnt17	UTSW	5	130,900,622 (GRCm38)	missense	probably damaging	1.00
R4549:Galnt17	UTSW	5	131,150,937 (GRCm38)	missense	probably damaging	1.00
R4938:Galnt17	UTSW	5	131,306,399 (GRCm38)	missense	probably benign
R5030:Galnt17	UTSW	5	130,876,513 (GRCm38)	missense	probably damaging	0.98
R5134:Galnt17	UTSW	5	130,964,035 (GRCm38)	missense	probably damaging	1.00
R5499:Galnt17	UTSW	5	130,900,628 (GRCm38)	missense	probably benign	0.28
R5518:Galnt17	UTSW	5	130,900,590 (GRCm38)	missense	probably damaging	1.00
R5662:Galnt17	UTSW	5	131,086,006 (GRCm38)	missense	probably damaging	1.00
R5806:Galnt17	UTSW	5	130,877,819 (GRCm38)	missense	probably damaging	1.00
R6209:Galnt17	UTSW	5	131,081,596 (GRCm38)	missense	probably benign	0.01
R6751:Galnt17	UTSW	5	131,081,590 (GRCm38)	missense	probably damaging	0.99
R7205:Galnt17	UTSW	5	131,306,752 (GRCm38)	start gained	probably benign
R7212:Galnt17	UTSW	5	130,964,111 (GRCm38)	missense	possibly damaging	0.69
R7529:Galnt17	UTSW	5	131,306,380 (GRCm38)	missense	probably damaging	0.99
R8881:Galnt17	UTSW	5	130,877,797 (GRCm38)	missense	probably benign	0.05
R8976:Galnt17	UTSW	5	130,906,705 (GRCm38)	missense	probably benign	0.01
R9480:Galnt17	UTSW	5	130,906,738 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGCATTTCTTGAGTCCTG -3'
(R):5'- CCTGTGTTCAGCCATATTGC -3'

Sequencing Primer
(F):5'- GCAGCATTTCTTGAGTCCTGAAGAC -3'
(R):5'- CCCTGAACTGGAGTTGCAAGTAC -3'

Posted On

2014-12-04