Mutagenetix > Incidental Mutation

Incidental Mutation 'R3725:Galnt12'

270723

Institutional Source

Beutler Lab

Gene Symbol

Galnt12

Ensembl Gene

ENSMUSG00000039774

Gene Name

polypeptide N-acetylgalactosaminyltransferase 12

Synonyms

A630062B03Rik

MMRRC Submission

040716-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3725 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47091909-47123070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 47104140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 133 (T133S)

Ref Sequence

ENSEMBL: ENSMUSP00000045721 (fasta)

Gene Model

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

AlphaFold

Q8BGT9

Predicted Effect

probably damaging
Transcript: ENSMUST00000045041
AA Change: T133S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045721
Gene: ENSMUSG00000039774
AA Change: T133S

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

SMART Domains

Protein: ENSMUSP00000103373
Gene: ENSMUSG00000039774

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179673

Meta Mutation Damage Score

0.3260

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

96% (55/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	T	A	7: 139,563,781 (GRCm39)	R740S	possibly damaging	Het
Adamtsl3	A	C	7: 82,261,612 (GRCm39)	D1676A	possibly damaging	Het
Atp6v1a	A	G	16: 43,922,120 (GRCm39)		probably benign	Het
Camsap3	T	C	8: 3,653,785 (GRCm39)	L485P	probably damaging	Het
Ccdc81	A	T	7: 89,515,838 (GRCm39)	F614I	possibly damaging	Het
Cdk5rap2	C	A	4: 70,153,674 (GRCm39)	K1716N	possibly damaging	Het
Cfap47	T	A	X: 78,553,621 (GRCm39)	T285S	probably damaging	Het
Cfh	T	C	1: 140,014,234 (GRCm39)	M1197V	probably damaging	Het
Cyp3a11	A	G	5: 145,802,810 (GRCm39)	F228L	probably benign	Het
Ddx24	A	G	12: 103,383,864 (GRCm39)	M575T	probably benign	Het
Dhx36	A	T	3: 62,395,643 (GRCm39)		probably benign	Het
Dmxl2	T	A	9: 54,301,053 (GRCm39)	I1554L	probably damaging	Het
Dsp	A	G	13: 38,378,665 (GRCm39)		probably null	Het
Dsp	A	G	13: 38,381,594 (GRCm39)	S2181G	probably benign	Het
Epg5	T	C	18: 78,060,894 (GRCm39)	I1959T	probably benign	Het
Fam135a	T	A	1: 24,096,515 (GRCm39)	K77*	probably null	Het
Fam209	T	C	2: 172,315,915 (GRCm39)	S97P	probably benign	Het
Fbxo11	A	G	17: 88,316,714 (GRCm39)	V323A	probably benign	Het
Fzd5	A	G	1: 64,775,498 (GRCm39)	S88P	probably damaging	Het
Gja8	A	G	3: 96,827,161 (GRCm39)	L167P	probably damaging	Het
Gm8730	T	C	8: 103,591,664 (GRCm39)		noncoding transcript	Het
Gsdmd	A	G	15: 75,737,939 (GRCm39)	D247G	probably benign	Het
Iqcg	A	G	16: 32,840,909 (GRCm39)		probably null	Het
Lamb1	C	T	12: 31,371,074 (GRCm39)	A1375V	probably null	Het
Mlip	A	G	9: 77,097,662 (GRCm39)	S282P	probably damaging	Het
Nfxl1	A	T	5: 72,674,405 (GRCm39)	D831E	probably damaging	Het
Nipbl	T	C	15: 8,325,145 (GRCm39)	D2506G	probably damaging	Het
Or6c212	A	T	10: 129,558,984 (GRCm39)	V143D	probably damaging	Het
Or7a39	T	A	10: 78,715,766 (GRCm39)	Y253*	probably null	Het
Pcdhb9	T	C	18: 37,534,654 (GRCm39)	L216P	possibly damaging	Het
Pigc	G	A	1: 161,798,860 (GRCm39)	G281R	possibly damaging	Het
Polr3g	C	T	13: 81,842,754 (GRCm39)	R87H	probably damaging	Het
Ppfia4	T	C	1: 134,241,449 (GRCm39)	D502G	probably benign	Het
Psg18	T	A	7: 18,088,748 (GRCm39)		probably benign	Het
Rad9a	G	A	19: 4,247,694 (GRCm39)	R179C	probably damaging	Het
Rxra	A	G	2: 27,644,289 (GRCm39)	D327G	probably damaging	Het
Samd7	T	C	3: 30,805,283 (GRCm39)	V22A	possibly damaging	Het
Slc22a29	A	T	19: 8,195,973 (GRCm39)	V22D	possibly damaging	Het
Slmap	C	A	14: 26,148,397 (GRCm39)	R671S	probably damaging	Het
Smarcal1	T	C	1: 72,665,755 (GRCm39)	F751S	possibly damaging	Het
Smarcb1	T	A	10: 75,752,620 (GRCm39)	K73N	probably benign	Het
Sptssa	T	C	12: 54,703,180 (GRCm39)	E30G	probably damaging	Het
Stpg2	A	G	3: 139,023,238 (GRCm39)	K418R	probably benign	Het
Tasor2	T	C	13: 3,640,538 (GRCm39)	I200V	probably benign	Het
Tmem19	A	G	10: 115,195,675 (GRCm39)		probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tmod1	T	C	4: 46,097,026 (GRCm39)	V273A	probably benign	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Uggt1	A	T	1: 36,221,588 (GRCm39)	L43*	probably null	Het
Vmn1r205	A	T	13: 22,776,671 (GRCm39)	F144I	probably damaging	Het
Vmn2r54	G	A	7: 12,366,223 (GRCm39)	T237I	probably benign	Het
Vmn2r7	A	T	3: 64,632,412 (GRCm39)	F17I	possibly damaging	Het
Vpreb3	G	A	10: 75,779,125 (GRCm39)		probably null	Het
Vps13d	T	A	4: 144,842,218 (GRCm39)		probably benign	Het
Zkscan5	A	T	5: 145,157,723 (GRCm39)	R742W	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
IGL03062:Galnt12	APN	4	47,122,566 (GRCm39)	missense	possibly damaging	0.80
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
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

Predicted Primers

PCR Primer
(F):5'- TTGAGCGTCTTCTGGAGCTC -3'
(R):5'- GTATGCCTCAAATTATCACTGGG -3'

Sequencing Primer
(F):5'- CGGCGAGAGATCTTTTAGTAGATTAC -3'
(R):5'- GCCTCAAATTATCACTGGGCACAC -3'

Posted On

2015-03-18