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

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R4925 (G1)

Quality Score

136

Status

Not validated

Chromosome

Chromosomal Location

110692221-110769246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110692605 bp (GRCm39)

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: 58,316,540 (GRCm39)	C173*	probably null	Het
3425401B19Rik	T	A	14: 32,385,137 (GRCm39)	H276L	possibly damaging	Het
Adam21	T	G	12: 81,607,163 (GRCm39)	M200L	probably benign	Het
Adamts3	A	T	5: 89,832,182 (GRCm39)	S974T	probably benign	Het
Adamtsl3	T	A	7: 82,251,507 (GRCm39)		probably null	Het
Atp8b2	A	G	3: 89,853,930 (GRCm39)		probably null	Het
Brd8	T	C	18: 34,740,388 (GRCm39)	T552A	probably benign	Het
Btaf1	A	G	19: 36,988,733 (GRCm39)	S1826G	probably benign	Het
Ccdc163	A	G	4: 116,568,528 (GRCm39)	E77G	possibly damaging	Het
Ces2g	A	G	8: 105,691,526 (GRCm39)	R194G	probably benign	Het
Cip2a	T	C	16: 48,836,726 (GRCm39)		probably null	Het
Cln8	A	G	8: 14,945,004 (GRCm39)	H106R	possibly damaging	Het
Col12a1	T	G	9: 79,582,077 (GRCm39)	L1391F	probably damaging	Het
Col16a1	G	A	4: 129,947,969 (GRCm39)	D230N	probably damaging	Het
Crhbp	C	A	13: 95,580,318 (GRCm39)	G87V	possibly damaging	Het
Cyp3a16	C	T	5: 145,389,644 (GRCm39)	M240I	probably benign	Het
Cyp4a14	A	T	4: 115,353,133 (GRCm39)	W60R	possibly damaging	Het
Fam47e	A	G	5: 92,733,149 (GRCm39)	Y304C	probably damaging	Het
Fgfbp1	A	T	5: 44,136,634 (GRCm39)	D219E	probably damaging	Het
Fgfr2	A	T	7: 129,787,002 (GRCm39)	Y485N	probably damaging	Het
Fhdc1	C	T	3: 84,360,840 (GRCm39)	V363M	probably damaging	Het
Foxb1	T	A	9: 69,667,437 (GRCm39)	E31V	probably damaging	Het
Ghrl	T	C	6: 113,693,218 (GRCm39)	D77G	probably damaging	Het
Gpr85	A	G	6: 13,835,977 (GRCm39)	V309A	probably benign	Het
Greb1	T	C	12: 16,731,472 (GRCm39)	Y1622C	probably damaging	Het
Greb1l	T	A	18: 10,547,447 (GRCm39)	M1555K	possibly damaging	Het
Grin2a	T	A	16: 9,487,687 (GRCm39)	N404Y	probably damaging	Het
Gtpbp1	A	C	15: 79,600,169 (GRCm39)	I399L	probably benign	Het
Hectd4	T	C	5: 121,460,753 (GRCm39)	S911P	possibly damaging	Het
Igkc	A	T	6: 70,703,520 (GRCm39)	K34*	probably null	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Iqgap1	T	A	7: 80,415,065 (GRCm39)	I149F	probably damaging	Het
Lama1	C	T	17: 68,101,309 (GRCm39)	A1934V	probably benign	Het
Lrp1	C	A	10: 127,410,944 (GRCm39)	E1415*	probably null	Het
Lypd8l	T	A	11: 58,501,513 (GRCm39)	T157S	probably damaging	Het
Macf1	A	C	4: 123,420,445 (GRCm39)	C270G	probably benign	Het
Marveld3	A	G	8: 110,674,943 (GRCm39)	V291A	probably benign	Het
Med23	T	C	10: 24,786,645 (GRCm39)	F917S	probably damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Ncan	A	T	8: 70,562,604 (GRCm39)	D551E	probably benign	Het
Or1e23	A	T	11: 73,407,998 (GRCm39)	I9N	possibly damaging	Het
Or4x6	T	A	2: 89,949,121 (GRCm39)	T274S	probably damaging	Het
Or52h2	T	C	7: 103,839,387 (GRCm39)	Y9C	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pla2g12a	T	C	3: 129,672,467 (GRCm39)	W34R	probably damaging	Het
Plekha7	A	G	7: 115,757,363 (GRCm39)	F529S	probably damaging	Het
Potefam1	T	C	2: 111,048,961 (GRCm39)	K273E	probably benign	Het
Ppl	T	A	16: 4,922,846 (GRCm39)	D215V	probably damaging	Het
Pramel15	A	T	4: 144,104,502 (GRCm39)	M1K	probably null	Het
Prdm1	T	A	10: 44,316,165 (GRCm39)	Y690F	probably damaging	Het
Prkcd	T	A	14: 30,329,570 (GRCm39)	D124V	probably damaging	Het
Ptprc	C	A	1: 138,027,235 (GRCm39)	D538Y	probably benign	Het
Rasl10b	G	A	11: 83,303,505 (GRCm39)	V21M	probably damaging	Het
Rgsl1	T	A	1: 153,688,023 (GRCm39)	Y657F	probably benign	Het
Rrn3	T	C	16: 13,617,836 (GRCm39)	C360R	probably damaging	Het
Scarb1	T	C	5: 125,374,363 (GRCm39)	T257A	probably damaging	Het
Serpinb2	T	A	1: 107,443,219 (GRCm39)	M6K	probably benign	Het
Slco4a1	T	C	2: 180,113,849 (GRCm39)	Y429H	probably benign	Het
St13	G	C	15: 81,283,786 (GRCm39)	R4G	probably benign	Het
Taar3	T	A	10: 23,826,441 (GRCm39)	F329Y	probably damaging	Het
Tardbp	A	T	4: 148,703,108 (GRCm39)	N285K	probably benign	Het
Tcstv7b	A	G	13: 120,702,384 (GRCm39)	Y60C	probably damaging	Het
Tnni2	A	T	7: 141,996,430 (GRCm39)	E4V	probably benign	Het
Tnpo2	A	T	8: 85,776,654 (GRCm39)	I454F	probably damaging	Het
Tpr	T	G	1: 150,308,316 (GRCm39)	H1690Q	probably benign	Het
Trav18	T	C	14: 54,068,577 (GRCm39)	S6P	probably benign	Het
Trf	T	C	9: 103,096,445 (GRCm39)	N25S	probably benign	Het
Vmn1r59	T	C	7: 5,457,115 (GRCm39)	N215S	probably benign	Het
Vmn2r2	T	C	3: 64,044,892 (GRCm39)	M1V	probably null	Het
Wdr64	T	C	1: 175,552,268 (GRCm39)		probably null	Het
Wdr73	T	C	7: 80,542,943 (GRCm39)	S222G	probably benign	Het

Other mutations in Galnt9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01746:Galnt9	APN	5	110,736,188 (GRCm39)	missense	probably damaging	1.00
IGL01934:Galnt9	APN	5	110,750,502 (GRCm39)	missense	possibly damaging	0.56
IGL02394:Galnt9	APN	5	110,763,365 (GRCm39)	missense	probably damaging	0.99
IGL02468:Galnt9	APN	5	110,762,089 (GRCm39)	missense	possibly damaging	0.68
garnished	UTSW	5	110,736,257 (GRCm39)	missense	probably damaging	0.99
Spotless	UTSW	5	110,763,375 (GRCm39)	missense	probably damaging	1.00
varnished	UTSW	5	110,768,465 (GRCm39)	missense	probably damaging	1.00
R1494:Galnt9	UTSW	5	110,736,196 (GRCm39)	missense	probably damaging	1.00
R1703:Galnt9	UTSW	5	110,767,038 (GRCm39)	missense	probably damaging	1.00
R1717:Galnt9	UTSW	5	110,744,078 (GRCm39)	missense	probably benign	0.01
R1806:Galnt9	UTSW	5	110,767,119 (GRCm39)	missense	possibly damaging	0.77
R1855:Galnt9	UTSW	5	110,763,390 (GRCm39)	missense	probably damaging	1.00
R4039:Galnt9	UTSW	5	110,762,074 (GRCm39)	missense	probably damaging	1.00
R4388:Galnt9	UTSW	5	110,736,257 (GRCm39)	missense	probably damaging	0.99
R4636:Galnt9	UTSW	5	110,763,365 (GRCm39)	missense	probably damaging	0.99
R4693:Galnt9	UTSW	5	110,763,375 (GRCm39)	missense	probably damaging	1.00
R4921:Galnt9	UTSW	5	110,725,315 (GRCm39)	missense	probably damaging	0.96
R5040:Galnt9	UTSW	5	110,765,771 (GRCm39)	missense	probably damaging	1.00
R5239:Galnt9	UTSW	5	110,692,635 (GRCm39)	missense	probably damaging	1.00
R5839:Galnt9	UTSW	5	110,725,386 (GRCm39)	missense	probably benign
R5918:Galnt9	UTSW	5	110,763,332 (GRCm39)	missense	probably damaging	1.00
R6734:Galnt9	UTSW	5	110,768,465 (GRCm39)	missense	probably damaging	1.00
R6775:Galnt9	UTSW	5	110,768,465 (GRCm39)	missense	probably damaging	1.00
R6777:Galnt9	UTSW	5	110,768,465 (GRCm39)	missense	probably damaging	1.00
R6784:Galnt9	UTSW	5	110,768,465 (GRCm39)	missense	probably damaging	1.00
R7214:Galnt9	UTSW	5	110,737,694 (GRCm39)	missense	probably benign
R7340:Galnt9	UTSW	5	110,762,054 (GRCm39)	missense	probably damaging	0.99
R7522:Galnt9	UTSW	5	110,743,705 (GRCm39)	splice site	probably null
R8110:Galnt9	UTSW	5	110,763,339 (GRCm39)	missense	probably damaging	1.00
R8423:Galnt9	UTSW	5	110,744,111 (GRCm39)	missense	probably benign	0.00
R8479:Galnt9	UTSW	5	110,692,617 (GRCm39)	missense	probably benign
R9007:Galnt9	UTSW	5	110,692,665 (GRCm39)	missense	probably benign	0.00
R9060:Galnt9	UTSW	5	110,737,710 (GRCm39)	missense	possibly damaging	0.88
R9213:Galnt9	UTSW	5	110,767,108 (GRCm39)	nonsense	probably null
R9614:Galnt9	UTSW	5	110,744,047 (GRCm39)	missense	probably damaging	1.00
R9655:Galnt9	UTSW	5	110,762,104 (GRCm39)	missense	probably damaging	1.00
Z1176:Galnt9	UTSW	5	110,744,012 (GRCm39)	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