Mutagenetix > Incidental Mutation

Incidental Mutation 'R1186:Galnt17'

102110

Institutional Source

Beutler Lab

Gene Symbol

Galnt17

Ensembl Gene

ENSMUSG00000034040

Gene Name

polypeptide N-acetylgalactosaminyltransferase 17

Synonyms

E330012B09Rik, Wbscr17, Galnt19, Gcap8

MMRRC Submission

039258-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1186 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130872082-131308497 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 131111742 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 179 (T179K)

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: T179K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083187
Gene: ENSMUSG00000034040
AA Change: T179K

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: T179K

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125395
Gene: ENSMUSG00000034040
AA Change: T179K

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

Meta Mutation Damage Score

0.9160

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 95.7%
20x: 90.1%

Validation Efficiency

97% (69/71)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	G	A	10: 21,621,652	R64Q	probably benign	Het
4932438A13Rik	T	C	3: 36,996,312		probably benign	Het
9530068E07Rik	G	A	11: 52,403,078	V49I	probably benign	Het
A2m	T	C	6: 121,661,534	S902P	probably benign	Het
Aatf	A	T	11: 84,470,549		probably benign	Het
Adamtsl1	A	G	4: 86,388,509	T1395A	probably benign	Het
Alpk2	T	C	18: 65,294,341		probably null	Het
Ank3	G	T	10: 69,867,460	A308S	probably damaging	Het
Arap1	A	G	7: 101,404,269		probably benign	Het
C4b	T	C	17: 34,736,309	D769G	possibly damaging	Het
Cep350	A	G	1: 155,875,376	S2017P	probably damaging	Het
Cfap54	T	A	10: 92,875,994	I2704F	unknown	Het
Crip2	G	A	12: 113,144,959		probably benign	Het
Cyp4f14	T	C	17: 32,916,786	I34V	probably benign	Het
Dcstamp	A	G	15: 39,754,629		probably null	Het
Ddx5	T	C	11: 106,783,979		probably null	Het
Dnah2	A	T	11: 69,515,700	L572Q	probably damaging	Het
Espl1	G	A	15: 102,304,039	A527T	probably benign	Het
Fam83d	A	G	2: 158,785,174	D261G	probably damaging	Het
Fbxo34	T	C	14: 47,530,586	F468L	probably damaging	Het
Gabarapl1	A	T	6: 129,533,405		probably benign	Het
Gm6768	A	C	12: 119,261,471		noncoding transcript	Het
Gm6899	C	T	11: 26,593,685		probably benign	Het
Helz2	T	A	2: 181,231,128	R2433W	probably damaging	Het
Hivep3	T	C	4: 119,814,723		probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Ica1	A	G	6: 8,672,326	L225P	probably damaging	Het
Inpp5f	T	C	7: 128,694,583	I195T	probably benign	Het
Isyna1	C	A	8: 70,595,201	N115K	probably benign	Het
Ly6g6e	T	C	17: 35,078,008	F75S	probably benign	Het
Ly96	A	G	1: 16,700,894	D101G	possibly damaging	Het
Mapk9	A	G	11: 49,878,269	T243A	probably damaging	Het
Mcc	A	G	18: 44,759,403	V48A	probably benign	Het
Mcpt2	C	T	14: 56,043,945		probably benign	Het
Med24	T	C	11: 98,717,757		probably benign	Het
Mtbp	G	A	15: 55,564,671	G162S	probably null	Het
Mtfr2	G	A	10: 20,352,852	C48Y	probably benign	Het
Naip2	C	T	13: 100,161,981	A516T	possibly damaging	Het
Naip2	AGGG	AGG	13: 100,162,037		probably null	Het
Nup107	A	C	10: 117,777,146	Y292*	probably null	Het
Nwd2	C	T	5: 63,650,024		probably benign	Het
Nxpe4	A	C	9: 48,393,392	N260H	probably benign	Het
Ofcc1	C	T	13: 40,208,829	G206R	probably benign	Het
Olfr1084	A	T	2: 86,639,463	L82M	probably damaging	Het
Olfr5	T	C	7: 6,480,542	I205V	probably benign	Het
Olfr901	T	C	9: 38,431,101	V273A	possibly damaging	Het
Olfr911-ps1	T	C	9: 38,524,157	S142P	probably damaging	Het
P2rx7	T	C	5: 122,670,451	Y299H	probably damaging	Het
Per3	T	A	4: 151,026,138	E401V	probably damaging	Het
Rbm34	C	A	8: 126,965,447	E182*	probably null	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Senp2	T	C	16: 22,011,504	S38P	probably damaging	Het
Slc36a2	A	T	11: 55,164,231		probably null	Het
Spred1	A	T	2: 117,177,697	R361S	possibly damaging	Het
Spry2	A	G	14: 105,892,907	C282R	probably damaging	Het
Srp54b	T	C	12: 55,255,528		probably benign	Het
Taar8c	G	C	10: 24,101,565	Y116*	probably null	Het
Tchh	C	G	3: 93,448,046	R1598G	unknown	Het
Tex15	A	G	8: 33,571,633	M364V	probably benign	Het
Ttbk1	T	C	17: 46,467,131	R662G	probably damaging	Het
Ttc5	G	A	14: 50,767,226	Q374*	probably null	Het
Usp46	C	T	5: 74,002,122	A312T	probably benign	Het
Vmn1r176	A	T	7: 23,835,626	L34Q	probably damaging	Het
Vmn1r178	A	T	7: 23,893,892	R122*	probably null	Het
Vmn2r6	T	A	3: 64,565,067	M78L	probably benign	Het
Zfp407	A	T	18: 84,209,448	I2012N	probably benign	Het
Zfp980	G	A	4: 145,702,083	G461S	probably benign	Het
Zfyve26	G	A	12: 79,263,949	L161F	probably damaging	Het

Other mutations in Galnt17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01690:Galnt17	APN	5	131085896	critical splice donor site	probably null
IGL02312:Galnt17	APN	5	131306533	missense	probably benign	0.09
IGL02744:Galnt17	APN	5	131111775	missense	probably damaging	0.99
IGL03066:Galnt17	APN	5	130900648	missense	probably benign
R0744:Galnt17	UTSW	5	131150916	missense	probably damaging	1.00
R1784:Galnt17	UTSW	5	131150963	missense	probably benign	0.35
R1909:Galnt17	UTSW	5	131111838	missense	probably benign	0.03
R1969:Galnt17	UTSW	5	131150944	missense	probably benign	0.19
R2102:Galnt17	UTSW	5	131085993	missense	probably damaging	1.00
R2158:Galnt17	UTSW	5	130906702	missense	probably damaging	1.00
R2307:Galnt17	UTSW	5	130900622	missense	probably damaging	1.00
R2680:Galnt17	UTSW	5	131111823	missense	probably damaging	0.97
R4549:Galnt17	UTSW	5	131150937	missense	probably damaging	1.00
R4938:Galnt17	UTSW	5	131306399	missense	probably benign
R5030:Galnt17	UTSW	5	130876513	missense	probably damaging	0.98
R5134:Galnt17	UTSW	5	130964035	missense	probably damaging	1.00
R5499:Galnt17	UTSW	5	130900628	missense	probably benign	0.28
R5518:Galnt17	UTSW	5	130900590	missense	probably damaging	1.00
R5662:Galnt17	UTSW	5	131086006	missense	probably damaging	1.00
R5806:Galnt17	UTSW	5	130877819	missense	probably damaging	1.00
R6209:Galnt17	UTSW	5	131081596	missense	probably benign	0.01
R6751:Galnt17	UTSW	5	131081590	missense	probably damaging	0.99
R7205:Galnt17	UTSW	5	131306752	start gained	probably benign
R7212:Galnt17	UTSW	5	130964111	missense	possibly damaging	0.69
R7529:Galnt17	UTSW	5	131306380	missense	probably damaging	0.99
R8881:Galnt17	UTSW	5	130877797	missense	probably benign	0.05
R8976:Galnt17	UTSW	5	130906705	missense	probably benign	0.01
R9480:Galnt17	UTSW	5	130906738	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTCCAATATGTTCCAGGGAGCC -3'
(R):5'- CAAGGGAGAGTGATGAATCCTTGCC -3'

Sequencing Primer
(F):5'- TATGTTCCAGGGAGCCAAAGAC -3'
(R):5'- agtcatctctccagcccc -3'

Posted On

2014-01-15