Mutagenetix > Incidental Mutation

Incidental Mutation 'R9007:Galnt9'

685357

Institutional Source

Beutler Lab

Gene Symbol

Galnt9

Ensembl Gene

ENSMUSG00000033316

Gene Name

polypeptide N-acetylgalactosaminyltransferase 9

Synonyms

GalNAc-T9

MMRRC Submission

068837-MU

Accession Numbers

Essential gene?

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

Stock #

R9007 (G1)

Quality Score

216.009

Status

Validated

Chromosome

Chromosomal Location

110692221-110769246 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110692665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 33 (R33H)

Ref Sequence

ENSEMBL: ENSMUSP00000038633 (fasta)

Gene Model

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

AlphaFold

G3X942

Predicted Effect

probably benign
Transcript: ENSMUST00000040001
AA Change: R33H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000038633
Gene: ENSMUSG00000033316
AA Change: R33H

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (60/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,226,935 (GRCm39)	C497S	probably benign	Het
4930453N24Rik	A	T	16: 64,589,377 (GRCm39)	Y92*	probably null	Het
Adam3	A	G	8: 25,205,127 (GRCm39)	V117A	probably benign	Het
Amer2	G	C	14: 60,617,376 (GRCm39)	D524H	probably damaging	Het
Armh4	T	A	14: 50,011,695 (GRCm39)	D4V	probably damaging	Het
Atp6v0a4	T	C	6: 38,029,988 (GRCm39)	K692R	probably benign	Het
Atp8b1	A	G	18: 64,684,931 (GRCm39)	V730A	probably benign	Het
Bdh2	T	C	3: 134,991,309 (GRCm39)		probably benign	Het
Ccnd3	T	A	17: 47,905,332 (GRCm39)		probably null	Het
Chrm4	T	C	2: 91,758,075 (GRCm39)	V161A	possibly damaging	Het
Csmd3	T	C	15: 47,751,892 (GRCm39)		probably benign	Het
D430041D05Rik	A	G	2: 104,087,930 (GRCm39)	S349P	probably benign	Het
Ddx55	A	G	5: 124,697,370 (GRCm39)	N244S	probably damaging	Het
Dock1	A	G	7: 134,500,825 (GRCm39)		probably benign	Het
Dppa3	T	C	6: 122,605,724 (GRCm39)	S93P	probably damaging	Het
Echdc1	T	C	10: 29,220,426 (GRCm39)	I217T	probably damaging	Het
Fpr-rs4	T	A	17: 18,242,416 (GRCm39)	L141Q	probably damaging	Het
Galnt15	T	C	14: 31,771,935 (GRCm39)	F451L	probably damaging	Het
Iah1	G	A	12: 21,367,402 (GRCm39)	G36D	probably damaging	Het
Jakmip1	A	G	5: 37,332,857 (GRCm39)	D1179G	probably benign	Het
Kcnh1	A	G	1: 192,188,055 (GRCm39)	T866A	probably benign	Het
Kcnq4	T	A	4: 120,555,150 (GRCm39)	I678F	probably benign	Het
Lars2	A	T	9: 123,260,980 (GRCm39)	R384*	probably null	Het
Lman2	T	C	13: 55,500,773 (GRCm39)	D142G	probably damaging	Het
Lrp1b	T	C	2: 40,587,564 (GRCm39)	D3897G		Het
Lrrn1	T	A	6: 107,544,820 (GRCm39)	I206N	probably damaging	Het
Mapkbp1	T	A	2: 119,850,143 (GRCm39)	L802H	probably damaging	Het
Meaf6	T	C	4: 125,001,450 (GRCm39)		probably benign	Het
Mier2	G	A	10: 79,384,274 (GRCm39)	R166W	probably damaging	Het
Mis18bp1	G	A	12: 65,180,616 (GRCm39)	S955L	probably benign	Het
Mocs1	T	A	17: 49,756,819 (GRCm39)	M267K	probably damaging	Het
Mroh3	T	A	1: 136,128,110 (GRCm39)	Y263F	probably damaging	Het
Ndufs1	A	T	1: 63,198,878 (GRCm39)		probably benign	Het
Nuak1	T	C	10: 84,210,492 (GRCm39)	Y532C	probably damaging	Het
Or51b6	A	G	7: 103,556,165 (GRCm39)	H170R		Het
Or6c205	A	T	10: 129,086,669 (GRCm39)	T89S	possibly damaging	Het
Ost4	A	G	5: 31,064,866 (GRCm39)	V5A	possibly damaging	Het
P2rx1	T	A	11: 72,900,059 (GRCm39)	C159S	probably damaging	Het
Paqr8	T	C	1: 21,005,614 (GRCm39)	L256P	possibly damaging	Het
Pgls	T	A	8: 72,048,689 (GRCm39)		probably benign	Het
Pkd2l1	T	C	19: 44,140,864 (GRCm39)	E566G	possibly damaging	Het
Plau	A	T	14: 20,889,613 (GRCm39)	H226L	probably damaging	Het
Rps18-ps5	A	G	13: 28,441,872 (GRCm39)	N85S	probably damaging	Het
Rraga	T	C	4: 86,494,675 (GRCm39)	S174P	probably damaging	Het
Sacs	T	A	14: 61,445,185 (GRCm39)	D2410E	probably benign	Het
Sgms1	A	T	19: 32,137,227 (GRCm39)	M113K	probably benign	Het
Skint6	C	A	4: 113,095,347 (GRCm39)	G104V	probably damaging	Het
Spata31f1e	C	T	4: 42,792,546 (GRCm39)	G529S	probably benign	Het
Sqor	T	A	2: 122,649,876 (GRCm39)	Y373*	probably null	Het
Stra6l	T	A	4: 45,864,910 (GRCm39)	S79T	possibly damaging	Het
Svep1	T	C	4: 58,091,915 (GRCm39)	I1573M	possibly damaging	Het
Syne2	A	G	12: 76,146,224 (GRCm39)	D1674G	possibly damaging	Het
Tex26	C	A	5: 149,376,884 (GRCm39)	T91N	probably damaging	Het
Tigd2	T	G	6: 59,187,887 (GRCm39)	S251R	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tnks1bp1	T	A	2: 84,901,048 (GRCm39)	L1585Q	probably damaging	Het
Trmt10c	A	G	16: 55,855,542 (GRCm39)	V31A	probably benign	Het
Ttc41	T	C	10: 86,569,625 (GRCm39)	S668P	probably damaging	Het
Uggt2	A	T	14: 119,326,724 (GRCm39)	D162E	probably damaging	Het
Vmn1r125	G	C	7: 21,006,503 (GRCm39)	V134L	probably benign	Het
Vmn1r225	T	A	17: 20,723,449 (GRCm39)	F297I	probably damaging	Het
Vps13c	A	G	9: 67,845,006 (GRCm39)	D2030G	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
R4925:Galnt9	UTSW	5	110,692,605 (GRCm39)	missense	possibly damaging	0.54
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
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'- TTTCTGCGCGCTGAAGAAG -3'
(R):5'- ACTCCTGGATAGAGTAGTGTCCTAAC -3'

Sequencing Primer
(F):5'- AGAACAGCTCCCGCCCTTG -3'
(R):5'- TCCTAACACGGGACCCTG -3'

Posted On

2021-10-11