Mutagenetix > Incidental Mutation

Incidental Mutation 'R4925:Galnt9'

378947

Institutional Source

Beutler Lab

Gene Symbol

Galnt9

Ensembl Gene

ENSMUSG00000033316

Gene Name

polypeptide N-acetylgalactosaminyltransferase 9

Synonyms

GalNAc-T9

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R4925 (G1)

Quality Score

136

Status

Not validated

Chromosome

Chromosomal Location

110544355-110621380 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110544739 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 13 (V13A)

Ref Sequence

ENSEMBL: ENSMUSP00000038633 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040001]

AlphaFold

G3X942

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040001
AA Change: V13A

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000038633
Gene: ENSMUSG00000033316
AA Change: V13A

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
low complexity region	87	100	N/A	INTRINSIC
Pfam:Glycos_transf_2	155	341	4.3e-26	PFAM
Blast:UBCc	425	457	3e-6	BLAST
RICIN	466	596	6.74e-6	SMART

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.7%

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. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	A	11: 58,425,714	C173*	probably null	Het
2210407C18Rik	T	A	11: 58,610,687	T157S	probably damaging	Het
3425401B19Rik	T	A	14: 32,663,180	H276L	possibly damaging	Het
4930430A15Rik	T	C	2: 111,218,616	K273E	probably benign	Het
Adam21	T	G	12: 81,560,389	M200L	probably benign	Het
Adamts3	A	T	5: 89,684,323	S974T	probably benign	Het
Adamtsl3	T	A	7: 82,602,299		probably null	Het
Atp8b2	A	G	3: 89,946,623		probably null	Het
Brd8	T	C	18: 34,607,335	T552A	probably benign	Het
Btaf1	A	G	19: 37,011,333	S1826G	probably benign	Het
C330027C09Rik	T	C	16: 49,016,363		probably null	Het
Ccdc163	A	G	4: 116,711,331	E77G	possibly damaging	Het
Ces2g	A	G	8: 104,964,894	R194G	probably benign	Het
Cln8	A	G	8: 14,895,004	H106R	possibly damaging	Het
Col12a1	T	G	9: 79,674,795	L1391F	probably damaging	Het
Col16a1	G	A	4: 130,054,176	D230N	probably damaging	Het
Crhbp	C	A	13: 95,443,810	G87V	possibly damaging	Het
Cyp3a16	C	T	5: 145,452,834	M240I	probably benign	Het
Cyp4a14	A	T	4: 115,495,936	W60R	possibly damaging	Het
Fam47e	A	G	5: 92,585,290	Y304C	probably damaging	Het
Fgfbp1	A	T	5: 43,979,292	D219E	probably damaging	Het
Fgfr2	A	T	7: 130,185,272	Y485N	probably damaging	Het
Fhdc1	C	T	3: 84,453,533	V363M	probably damaging	Het
Foxb1	T	A	9: 69,760,155	E31V	probably damaging	Het
Ghrl	T	C	6: 113,716,257	D77G	probably damaging	Het
Gm21731	A	G	13: 120,240,848	Y60C	probably damaging	Het
Gpr85	A	G	6: 13,835,978	V309A	probably benign	Het
Greb1	T	C	12: 16,681,471	Y1622C	probably damaging	Het
Greb1l	T	A	18: 10,547,447	M1555K	possibly damaging	Het
Grin2a	T	A	16: 9,669,823	N404Y	probably damaging	Het
Gtpbp1	A	C	15: 79,715,968	I399L	probably benign	Het
Hectd4	T	C	5: 121,322,690	S911P	possibly damaging	Het
Igkc	A	T	6: 70,726,536	K34*	probably null	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Iqgap1	T	A	7: 80,765,317	I149F	probably damaging	Het
Lama1	C	T	17: 67,794,314	A1934V	probably benign	Het
Lrp1	C	A	10: 127,575,075	E1415*	probably null	Het
Macf1	A	C	4: 123,526,652	C270G	probably benign	Het
Marveld3	A	G	8: 109,948,311	V291A	probably benign	Het
Med23	T	C	10: 24,910,747	F917S	probably damaging	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Ncan	A	T	8: 70,109,954	D551E	probably benign	Het
Olfr1269	T	A	2: 90,118,777	T274S	probably damaging	Het
Olfr382	A	T	11: 73,517,172	I9N	possibly damaging	Het
Olfr649	T	C	7: 104,190,180	Y9C	possibly damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pla2g12a	T	C	3: 129,878,818	W34R	probably damaging	Het
Plekha7	A	G	7: 116,158,128	F529S	probably damaging	Het
Ppl	T	A	16: 5,104,982	D215V	probably damaging	Het
Pramef20	A	T	4: 144,377,932	M1K	probably null	Het
Prdm1	T	A	10: 44,440,169	Y690F	probably damaging	Het
Prkcd	T	A	14: 30,607,613	D124V	probably damaging	Het
Ptprc	C	A	1: 138,099,497	D538Y	probably benign	Het
Rasl10b	G	A	11: 83,412,679	V21M	probably damaging	Het
Rgsl1	T	A	1: 153,812,277	Y657F	probably benign	Het
Rrn3	T	C	16: 13,799,972	C360R	probably damaging	Het
Scarb1	T	C	5: 125,297,299	T257A	probably damaging	Het
Serpinb2	T	A	1: 107,515,489	M6K	probably benign	Het
Slco4a1	T	C	2: 180,472,056	Y429H	probably benign	Het
St13	G	C	15: 81,399,585	R4G	probably benign	Het
Taar3	T	A	10: 23,950,543	F329Y	probably damaging	Het
Tardbp	A	T	4: 148,618,651	N285K	probably benign	Het
Tnni2	A	T	7: 142,442,693	E4V	probably benign	Het
Tnpo2	A	T	8: 85,050,025	I454F	probably damaging	Het
Tpr	T	G	1: 150,432,565	H1690Q	probably benign	Het
Trav18	T	C	14: 53,831,120	S6P	probably benign	Het
Trf	T	C	9: 103,219,246	N25S	probably benign	Het
Vmn1r59	T	C	7: 5,454,116	N215S	probably benign	Het
Vmn2r2	T	C	3: 64,137,471	M1V	probably null	Het
Wdr64	T	C	1: 175,724,702		probably null	Het
Wdr73	T	C	7: 80,893,195	S222G	probably benign	Het

Other mutations in Galnt9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01746:Galnt9	APN	5	110588322	missense	probably damaging	1.00
IGL01934:Galnt9	APN	5	110602636	missense	possibly damaging	0.56
IGL02394:Galnt9	APN	5	110615499	missense	probably damaging	0.99
IGL02468:Galnt9	APN	5	110614223	missense	possibly damaging	0.68
garnished	UTSW	5	110588391	missense	probably damaging	0.99
Spotless	UTSW	5	110615509	missense	probably damaging	1.00
varnished	UTSW	5	110620599	missense	probably damaging	1.00
R1494:Galnt9	UTSW	5	110588330	missense	probably damaging	1.00
R1703:Galnt9	UTSW	5	110619172	missense	probably damaging	1.00
R1717:Galnt9	UTSW	5	110596212	missense	probably benign	0.01
R1806:Galnt9	UTSW	5	110619253	missense	possibly damaging	0.77
R1855:Galnt9	UTSW	5	110615524	missense	probably damaging	1.00
R4039:Galnt9	UTSW	5	110614208	missense	probably damaging	1.00
R4388:Galnt9	UTSW	5	110588391	missense	probably damaging	0.99
R4636:Galnt9	UTSW	5	110615499	missense	probably damaging	0.99
R4693:Galnt9	UTSW	5	110615509	missense	probably damaging	1.00
R4921:Galnt9	UTSW	5	110577449	missense	probably damaging	0.96
R5040:Galnt9	UTSW	5	110617905	missense	probably damaging	1.00
R5239:Galnt9	UTSW	5	110544769	missense	probably damaging	1.00
R5839:Galnt9	UTSW	5	110577520	missense	probably benign
R5918:Galnt9	UTSW	5	110615466	missense	probably damaging	1.00
R6734:Galnt9	UTSW	5	110620599	missense	probably damaging	1.00
R6775:Galnt9	UTSW	5	110620599	missense	probably damaging	1.00
R6777:Galnt9	UTSW	5	110620599	missense	probably damaging	1.00
R6784:Galnt9	UTSW	5	110620599	missense	probably damaging	1.00
R7214:Galnt9	UTSW	5	110589828	missense	probably benign
R7340:Galnt9	UTSW	5	110614188	missense	probably damaging	0.99
R7522:Galnt9	UTSW	5	110595839	splice site	probably null
R8110:Galnt9	UTSW	5	110615473	missense	probably damaging	1.00
R8423:Galnt9	UTSW	5	110596245	missense	probably benign	0.00
R8479:Galnt9	UTSW	5	110544751	missense	probably benign
R9007:Galnt9	UTSW	5	110544799	missense	probably benign	0.00
R9060:Galnt9	UTSW	5	110589844	missense	possibly damaging	0.88
R9213:Galnt9	UTSW	5	110619242	nonsense	probably null
R9614:Galnt9	UTSW	5	110596181	missense	probably damaging	1.00
R9655:Galnt9	UTSW	5	110614238	missense	probably damaging	1.00
Z1176:Galnt9	UTSW	5	110596146	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TTTCTGCGCGCTGAAGAAGG -3'
(R):5'- TAGACCACCTCCTCCAGATG -3'

Sequencing Primer
(F):5'- CTGAAGAAGGGCGGGTCG -3'
(R):5'- ACCTCCTCCAGATGGTCCAG -3'

Posted On

2016-04-15