Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03062:Galnt12'

409492

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Galnt12

Ensembl Gene

ENSMUSG00000039774

Gene Name

polypeptide N-acetylgalactosaminyltransferase 12

Synonyms

A630062B03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03062

Quality Score

Status

Chromosome

Chromosomal Location

47091909-47123070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 47122566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 574 (R574S)

Ref Sequence

ENSEMBL: ENSMUSP00000045721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045041] [ENSMUST00000107744]

AlphaFold

Q8BGT9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045041
AA Change: R574S

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045721
Gene: ENSMUSG00000039774
AA Change: R574S

Domain	Start	End	E-Value	Type
transmembrane domain	20	37	N/A	INTRINSIC
low complexity region	78	91	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	131	375	3.4e-10	PFAM
Pfam:Glycos_transf_2	134	317	1.4e-35	PFAM
Pfam:Glyco_tranf_2_2	134	360	6.6e-8	PFAM
Pfam:Glyco_transf_7C	290	363	3e-9	PFAM
RICIN	440	572	8.09e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107744
AA Change: R282S

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103373
Gene: ENSMUSG00000039774
AA Change: R282S

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_7C	5	71	7.5e-9	PFAM
RICIN	148	280	8.09e-18	SMART

Coding Region Coverage

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 a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threonine residue on a polypeptide acceptor in the initial step of O-linked protein glycosylation. Mutations in this gene are associated with an increased susceptibility to colorectal cancer.[provided by RefSeq, Mar 2011]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,681,054 (GRCm39)	R714Q	possibly damaging	Het
Abcb5	T	A	12: 118,899,822 (GRCm39)	I282L	probably benign	Het
Aox1	A	T	1: 58,117,624 (GRCm39)	E835D	probably benign	Het
Arhgap17	C	T	7: 122,921,097 (GRCm39)		probably null	Het
Bltp1	T	C	3: 37,092,666 (GRCm39)		probably benign	Het
Calcr	C	T	6: 3,693,718 (GRCm39)	V359I	probably benign	Het
Chd9	T	A	8: 91,741,895 (GRCm39)		probably benign	Het
Col28a1	T	C	6: 8,017,029 (GRCm39)		probably benign	Het
Dnajc11	A	G	4: 152,055,318 (GRCm39)	E171G	possibly damaging	Het
Efhd1	T	C	1: 87,192,406 (GRCm39)	F79L	possibly damaging	Het
Fam83a	A	T	15: 57,856,473 (GRCm39)		probably null	Het
Fam98a	A	G	17: 75,847,100 (GRCm39)		probably benign	Het
Ficd	A	G	5: 113,876,314 (GRCm39)	Y163C	probably damaging	Het
Filip1l	T	C	16: 57,327,167 (GRCm39)	S66P	probably damaging	Het
Fmo5	A	G	3: 97,542,909 (GRCm39)	Y73C	probably damaging	Het
Klc3	C	A	7: 19,128,987 (GRCm39)	G461W	probably damaging	Het
Lmo7	A	T	14: 102,149,515 (GRCm39)	T973S	possibly damaging	Het
Loxl1	C	A	9: 58,219,193 (GRCm39)	G326V	possibly damaging	Het
Lrrc24	A	G	15: 76,602,504 (GRCm39)	V127A	probably benign	Het
Lyrm1	T	C	7: 119,515,354 (GRCm39)		probably benign	Het
Med28	G	A	5: 45,679,811 (GRCm39)	V65I	probably damaging	Het
Mgat4c	T	C	10: 102,224,322 (GRCm39)	Y179H	probably damaging	Het
Micall1	A	C	15: 78,998,881 (GRCm39)	N58T	probably damaging	Het
Mtcl3	T	A	10: 29,074,945 (GRCm39)	F911Y	probably damaging	Het
Ncoa4	T	A	14: 31,895,377 (GRCm39)	M72K	possibly damaging	Het
Nutm1	T	C	2: 112,079,278 (GRCm39)	Q879R	probably benign	Het
Or4d6	C	T	19: 12,086,512 (GRCm39)	V133I	probably benign	Het
Or8b12i	T	A	9: 20,082,463 (GRCm39)	I135F	probably damaging	Het
Or8g52	T	A	9: 39,631,331 (GRCm39)	D269E	probably benign	Het
Phf11b	T	C	14: 59,562,373 (GRCm39)	I177M	probably damaging	Het
Pin1rt1	T	G	2: 104,545,052 (GRCm39)	I27L	probably benign	Het
Plxna2	T	C	1: 194,444,858 (GRCm39)	V750A	possibly damaging	Het
Pou5f1	A	T	17: 35,820,936 (GRCm39)	N126I	possibly damaging	Het
Ptprn	A	T	1: 75,224,517 (GRCm39)	H946Q	possibly damaging	Het
Rnf43	G	T	11: 87,623,130 (GRCm39)	G744*	probably null	Het
Rsbn1	C	A	3: 103,860,945 (GRCm39)		probably benign	Het
Sars2	T	A	7: 28,446,206 (GRCm39)	I145N	possibly damaging	Het
Sh3tc2	A	T	18: 62,144,951 (GRCm39)	E1135V	probably damaging	Het
Shroom1	A	G	11: 53,354,206 (GRCm39)	D42G	probably benign	Het
Sidt2	A	G	9: 45,853,981 (GRCm39)		probably null	Het
Slc39a8	T	C	3: 135,592,558 (GRCm39)		probably benign	Het
Slc9c1	T	C	16: 45,420,121 (GRCm39)	S1059P	probably benign	Het
Socs6	A	T	18: 88,887,970 (GRCm39)	M315K	probably benign	Het
Speer2	T	C	16: 69,654,865 (GRCm39)	E200G	probably damaging	Het
Sult2a5	T	A	7: 13,358,107 (GRCm39)		probably null	Het
Tmbim1	A	T	1: 74,330,858 (GRCm39)	I168N	possibly damaging	Het
Trim38	T	C	13: 23,966,946 (GRCm39)	V131A	probably damaging	Het
Ube2o	A	G	11: 116,432,468 (GRCm39)	S833P	probably damaging	Het
Uggt2	T	C	14: 119,312,758 (GRCm39)	I350M	probably damaging	Het
Unc80	A	G	1: 66,548,648 (GRCm39)	D640G	probably damaging	Het
Vmn2r13	A	G	5: 109,304,148 (GRCm39)	F761S	probably damaging	Het
Vmn2r54	C	T	7: 12,366,355 (GRCm39)	C193Y	probably damaging	Het

Other mutations in Galnt12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01877:Galnt12	APN	4	47,112,315 (GRCm39)	splice site	probably benign
IGL02188:Galnt12	APN	4	47,122,521 (GRCm39)	missense	probably damaging	1.00
IGL02217:Galnt12	APN	4	47,113,832 (GRCm39)	missense	probably damaging	1.00
IGL02388:Galnt12	APN	4	47,117,941 (GRCm39)	missense	probably damaging	1.00
IGL02550:Galnt12	APN	4	47,104,126 (GRCm39)	missense	possibly damaging	0.47
R0508:Galnt12	UTSW	4	47,104,255 (GRCm39)	missense	probably damaging	1.00
R1513:Galnt12	UTSW	4	47,117,956 (GRCm39)	missense	probably damaging	1.00
R1634:Galnt12	UTSW	4	47,108,585 (GRCm39)	splice site	probably null
R2072:Galnt12	UTSW	4	47,108,477 (GRCm39)	nonsense	probably null
R2297:Galnt12	UTSW	4	47,113,834 (GRCm39)	missense	probably damaging	1.00
R3113:Galnt12	UTSW	4	47,108,415 (GRCm39)	missense	probably benign	0.01
R3157:Galnt12	UTSW	4	47,104,264 (GRCm39)	missense	probably damaging	1.00
R3158:Galnt12	UTSW	4	47,104,264 (GRCm39)	missense	probably damaging	1.00
R3159:Galnt12	UTSW	4	47,104,264 (GRCm39)	missense	probably damaging	1.00
R3725:Galnt12	UTSW	4	47,104,140 (GRCm39)	missense	probably damaging	1.00
R4284:Galnt12	UTSW	4	47,104,231 (GRCm39)	missense	probably damaging	1.00
R4691:Galnt12	UTSW	4	47,104,143 (GRCm39)	missense	probably damaging	1.00
R5134:Galnt12	UTSW	4	47,113,818 (GRCm39)	missense	probably damaging	1.00
R5408:Galnt12	UTSW	4	47,104,169 (GRCm39)	missense	probably damaging	1.00
R5657:Galnt12	UTSW	4	47,104,150 (GRCm39)	missense	possibly damaging	0.95
R6074:Galnt12	UTSW	4	47,112,405 (GRCm39)	missense	probably damaging	1.00
R6406:Galnt12	UTSW	4	47,122,534 (GRCm39)	missense	probably benign	0.00
R6721:Galnt12	UTSW	4	47,122,529 (GRCm39)	nonsense	probably null
R7287:Galnt12	UTSW	4	47,108,525 (GRCm39)	missense	probably damaging	1.00
R7407:Galnt12	UTSW	4	47,120,362 (GRCm39)	missense	probably damaging	1.00
R7512:Galnt12	UTSW	4	47,108,406 (GRCm39)	missense	possibly damaging	0.83
R7810:Galnt12	UTSW	4	47,113,786 (GRCm39)	missense	probably damaging	1.00
R8815:Galnt12	UTSW	4	47,113,908 (GRCm39)	splice site	probably benign
R8823:Galnt12	UTSW	4	47,091,928 (GRCm39)	start gained	probably benign
R8871:Galnt12	UTSW	4	47,108,582 (GRCm39)	critical splice donor site	probably null
R9144:Galnt12	UTSW	4	47,113,822 (GRCm39)	missense
R9449:Galnt12	UTSW	4	47,104,163 (GRCm39)	nonsense	probably null
R9460:Galnt12	UTSW	4	47,117,983 (GRCm39)	missense	probably damaging	0.97
R9646:Galnt12	UTSW	4	47,120,390 (GRCm39)	missense	probably damaging	0.99
R9723:Galnt12	UTSW	4	47,119,541 (GRCm39)	nonsense	probably null
X0025:Galnt12	UTSW	4	47,104,166 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02