Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02550:Galnt12'

298049

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 #

IGL02550

Quality Score

Status

Chromosome

Chromosomal Location

47091909-47123070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 47104126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 128 (D128V)

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: D128V

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045721
Gene: ENSMUSG00000039774
AA Change: D128V

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

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	G	1: 66,884,325 (GRCm39)		probably null	Het
Acer3	G	A	7: 97,873,185 (GRCm39)	T171I	probably benign	Het
Acsm2	C	T	7: 119,172,507 (GRCm39)	P117S	probably damaging	Het
Anxa2	A	G	9: 69,374,588 (GRCm39)	S22G	probably benign	Het
Arrb2	T	C	11: 70,327,696 (GRCm39)	I120T	probably damaging	Het
Atp11a	G	T	8: 12,866,997 (GRCm39)	K141N	possibly damaging	Het
Casd1	T	C	6: 4,642,009 (GRCm39)	V762A	probably benign	Het
Ccdc61	A	T	7: 18,627,227 (GRCm39)	S48T	probably benign	Het
Cntn2	T	C	1: 132,456,801 (GRCm39)	M82V	probably null	Het
Cobll1	A	G	2: 64,938,207 (GRCm39)	S359P	probably damaging	Het
Ctnnbl1	C	A	2: 157,726,055 (GRCm39)	D465E	probably benign	Het
Def6	A	T	17: 28,447,235 (GRCm39)	E622V	probably benign	Het
Dmgdh	T	C	13: 93,854,083 (GRCm39)	Y678H	probably damaging	Het
Dock9	A	T	14: 121,935,724 (GRCm39)	M1K	probably null	Het
Esyt1	T	C	10: 128,357,962 (GRCm39)	K216E	probably damaging	Het
Fhod3	A	G	18: 25,156,017 (GRCm39)	D545G	probably benign	Het
Gm1110	C	T	9: 26,793,130 (GRCm39)	V549I	probably benign	Het
Gm7361	A	G	5: 26,466,120 (GRCm39)	I161V	possibly damaging	Het
Gsn	T	C	2: 35,172,619 (GRCm39)		probably benign	Het
Gvin3	A	T	7: 106,200,846 (GRCm39)		noncoding transcript	Het
Il16	T	A	7: 83,323,704 (GRCm39)	Q282L	possibly damaging	Het
Il3ra	A	G	14: 14,348,055 (GRCm38)	D67G	probably benign	Het
Insrr	T	C	3: 87,711,805 (GRCm39)	L515P	probably damaging	Het
Jhy	A	G	9: 40,828,466 (GRCm39)	F480S	probably benign	Het
Klc4	C	A	17: 46,947,836 (GRCm39)		probably null	Het
Klhl12	G	T	1: 134,395,443 (GRCm39)	C135F	possibly damaging	Het
Ly6m	T	G	15: 74,752,604 (GRCm39)	H24P	probably damaging	Het
Mboat7	G	T	7: 3,686,905 (GRCm39)		probably null	Het
Myo1f	G	A	17: 33,807,116 (GRCm39)	D522N	probably damaging	Het
Myo1f	A	G	17: 33,799,124 (GRCm39)		probably benign	Het
Nbea	C	A	3: 55,926,835 (GRCm39)	M789I	probably damaging	Het
Ncapd2	T	C	6: 125,154,410 (GRCm39)	D602G	probably benign	Het
Ncaph2	A	T	15: 89,254,064 (GRCm39)	K344*	probably null	Het
Nek2	A	G	1: 191,554,371 (GRCm39)	Y70C	probably damaging	Het
Or2t1	T	C	14: 14,328,423 (GRCm38)	L104P	possibly damaging	Het
Or4k35	T	A	2: 111,100,349 (GRCm39)	D121V	probably damaging	Het
Or4k37	T	C	2: 111,158,845 (GRCm39)	L27P	probably damaging	Het
Or5ak22	G	A	2: 85,230,166 (GRCm39)	A237V	probably damaging	Het
Or7e166	C	A	9: 19,624,343 (GRCm39)	F73L	possibly damaging	Het
Or8g35	T	A	9: 39,381,842 (GRCm39)	Y60F	probably benign	Het
Plcb3	T	A	19: 6,937,544 (GRCm39)	K625*	probably null	Het
Plrg1	T	C	3: 82,968,430 (GRCm39)		probably null	Het
Ptpn12	A	G	5: 21,203,137 (GRCm39)	V547A	probably benign	Het
Ralgapb	A	G	2: 158,290,331 (GRCm39)	D748G	probably damaging	Het
Rcbtb2	A	G	14: 73,399,459 (GRCm39)	E41G	probably damaging	Het
Rela	G	T	19: 5,691,534 (GRCm39)	R236L	possibly damaging	Het
Rps6kc1	A	G	1: 190,604,059 (GRCm39)	S188P	probably damaging	Het
Sipa1l1	A	T	12: 82,487,723 (GRCm39)	K1666*	probably null	Het
Slco1a1	C	T	6: 141,889,191 (GRCm39)	M40I	probably benign	Het
Smarca4	C	A	9: 21,597,418 (GRCm39)	P1391Q	probably benign	Het
Stra6	A	G	9: 58,057,366 (GRCm39)	N392S	possibly damaging	Het
Syt4	A	G	18: 31,577,246 (GRCm39)	I36T	probably damaging	Het
Tgfbr2	A	T	9: 115,939,197 (GRCm39)	M235K	probably benign	Het
Tmem87a	T	A	2: 120,204,966 (GRCm39)		probably null	Het
Tmf1	T	C	6: 97,135,522 (GRCm39)	D918G	probably benign	Het
Tnfaip2	A	G	12: 111,412,535 (GRCm39)	Y312C	probably damaging	Het
Usp47	C	T	7: 111,703,561 (GRCm39)	R1178C	probably damaging	Het
Vmn2r95	T	A	17: 18,671,994 (GRCm39)	I577N	probably damaging	Het
Vps13b	T	C	15: 35,572,242 (GRCm39)	V953A	probably benign	Het
Wasl	A	G	6: 24,633,883 (GRCm39)	F127S	probably damaging	Het
Wdr1	C	T	5: 38,698,206 (GRCm39)	V192I	probably damaging	Het
Wnt9a	C	T	11: 59,221,744 (GRCm39)	T214I	probably damaging	Het
Xpo5	A	G	17: 46,540,255 (GRCm39)	D693G	probably benign	Het
Zan	A	G	5: 137,385,301 (GRCm39)	L5044P	unknown	Het
Zhx3	T	C	2: 160,623,216 (GRCm39)	N317S	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
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
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

2015-04-16