Mutagenetix > Incidental Mutation

Incidental Mutation 'R2259:Galnt14'

243691

Institutional Source

Beutler Lab

Gene Symbol

Galnt14

Ensembl Gene

ENSMUSG00000024064

Gene Name

polypeptide N-acetylgalactosaminyltransferase 14

Synonyms

0610033M06Rik

MMRRC Submission

040259-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R2259 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73493228-73710453 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 73494266 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 520 (M520I)

Ref Sequence

ENSEMBL: ENSMUSP00000024858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024858]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024858
AA Change: M520I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000024858
Gene: ENSMUSG00000024064
AA Change: M520I

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	111	359	1.4e-10	PFAM
Pfam:Glycos_transf_2	114	294	7.5e-30	PFAM
Pfam:Glyco_tranf_2_2	114	333	1.5e-8	PFAM
Pfam:Glyco_transf_7C	271	340	7e-8	PFAM
RICIN	420	548	7.23e-6	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins like mucins. Alterations in this gene may play a role in cancer progression and response to chemotherapy. [provided by RefSeq, Jun 2016]
PHENOTYPE: Homozygous mutant mice exhibit enhanced motor coordination during inverted screen testing when compared with controls. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	G	5: 129,112,311	S91A	possibly damaging	Het
Ankrd13b	T	G	11: 77,476,342	N247T	probably damaging	Het
Atp10b	A	G	11: 43,172,745	D169G	probably damaging	Het
Atp10b	G	A	11: 43,189,613	V239M	probably damaging	Het
Cflar	C	T	1: 58,729,121	T121I	probably benign	Het
Clca3b	T	C	3: 144,846,381	N180D	possibly damaging	Het
Cnbd2	T	A	2: 156,335,272	I62N	probably damaging	Het
Col11a2	A	G	17: 34,039,677	H8R	probably benign	Het
Cyp2a4	C	T	7: 26,309,035	L201F	probably damaging	Het
D630003M21Rik	A	T	2: 158,204,711	L782Q	probably damaging	Het
Dctn1	C	A	6: 83,197,586	H1065N	possibly damaging	Het
Dgcr2	A	T	16: 17,844,977		probably null	Het
Dlg4	T	C	11: 70,031,370	I143T	probably damaging	Het
E2f7	T	G	10: 110,746,343	N4K	probably damaging	Het
Eef2kmt	C	T	16: 5,245,308	V323I	probably benign	Het
Eif2ak4	A	C	2: 118,455,783	I1017L	probably damaging	Het
Eln	C	A	5: 134,729,654	A126S	unknown	Het
Exoc7	T	C	11: 116,306,411	S35G	probably damaging	Het
Fam187a	A	G	11: 102,885,298		probably benign	Het
Fam196a	T	A	7: 134,917,667	E378V	probably damaging	Het
Fkbp6	C	T	5: 135,337,614		probably null	Het
Flnc	G	A	6: 29,438,666	W186*	probably null	Het
Fmn2	T	A	1: 174,502,932	L296H	unknown	Het
Gba2	A	G	4: 43,570,107	C396R	probably benign	Het
Gigyf1	C	A	5: 137,520,332	A215E	possibly damaging	Het
Glb1	C	T	9: 114,443,032	Q246*	probably null	Het
Gm11565	T	G	11: 99,915,018	C79G	possibly damaging	Het
Gpr160	A	G	3: 30,896,295	Y172C	probably damaging	Het
Ift52	A	G	2: 163,028,093	N159S	probably benign	Het
Insrr	A	G	3: 87,800,452	D67G	probably damaging	Het
Irf2	A	G	8: 46,837,833	Y230C	probably benign	Het
Jmjd6	T	C	11: 116,841,314	H187R	probably damaging	Het
Kdm2b	C	T	5: 122,882,416	G90S	probably damaging	Het
Kif7	C	T	7: 79,711,589	G118D	probably damaging	Het
Klhl38	G	C	15: 58,314,978	T532S	possibly damaging	Het
Kmt2a	G	T	9: 44,881,142		probably benign	Het
Lama2	A	G	10: 27,031,127	L2346S	probably benign	Het
Marveld2	A	G	13: 100,612,470	S34P	probably benign	Het
Mettl7a1	A	T	15: 100,313,168	I174F	probably benign	Het
Mllt6	T	C	11: 97,664,976	V44A	probably damaging	Het
Muc5ac	A	G	7: 141,791,008	N72S	probably benign	Het
Myo7a	T	G	7: 98,069,499	D1388A	probably damaging	Het
Ncapd3	A	G	9: 27,056,072	D568G	probably benign	Het
Ncoa1	A	C	12: 4,315,819	H82Q	probably damaging	Het
Npbwr1	C	A	1: 5,916,658	L212F	probably damaging	Het
Nptx1	T	G	11: 119,543,316	I315L	probably benign	Het
Npy2r	G	T	3: 82,541,354	P38Q	possibly damaging	Het
Ocln	A	T	13: 100,535,029	D24E	probably damaging	Het
Olfr1350	A	T	7: 6,570,023	I11F	probably damaging	Het
Olfr295	T	A	7: 86,585,884	V203D	possibly damaging	Het
Olfr933	T	C	9: 38,976,000	V108A	probably benign	Het
Pde2a	A	T	7: 101,484,567	D85V	probably damaging	Het
Phf3	A	G	1: 30,804,343	V1845A	probably benign	Het
Plch1	T	A	3: 63,697,977	Q1493L	possibly damaging	Het
Pold1	T	C	7: 44,541,484		probably benign	Het
Polq	T	C	16: 37,062,097	V1541A	probably benign	Het
Psmd3	T	A	11: 98,690,964	M305K	probably benign	Het
Pura	T	C	18: 36,287,750	F197L	possibly damaging	Het
Rab3gap2	T	A	1: 185,221,859	W43R	probably damaging	Het
Repin1	A	G	6: 48,596,530	Q128R	probably benign	Het
Rnf208	G	A	2: 25,243,644	V117I	probably damaging	Het
Rpe65	A	G	3: 159,615,571	Y340C	probably damaging	Het
Ryr1	C	A	7: 29,019,741	V4414L	unknown	Het
Sephs2	T	C	7: 127,273,477	E148G	possibly damaging	Het
Spns2	T	A	11: 72,457,268	Q291L	probably benign	Het
Ssc5d	C	T	7: 4,943,916	P1090S	probably benign	Het
Tasp1	A	T	2: 139,951,506	V250D	probably damaging	Het
Tcaf3	A	G	6: 42,591,430	I664T	possibly damaging	Het
Tg	T	C	15: 66,683,898	V813A	probably benign	Het
Tmem132c	T	C	5: 127,504,924	L401P	probably benign	Het
Tmem138	T	C	19: 10,571,603	N101S	probably benign	Het
Tmem242	G	T	17: 5,433,470	A99E	probably damaging	Het
Tmem30a	C	T	9: 79,774,164	R277H	probably benign	Het
Tnni3	T	A	7: 4,519,406	I182F	probably benign	Het
Trim30a	T	A	7: 104,411,504	D355V	probably damaging	Het
Trim35	C	T	14: 66,309,262	R493*	probably null	Het
Trip10	G	C	17: 57,255,135	V254L	probably benign	Het
Tshz2	A	T	2: 169,886,406	Q505L	probably benign	Het
Ttyh1	T	C	7: 4,128,184	V218A	probably damaging	Het
Unc13b	A	T	4: 43,182,780	E3163V	possibly damaging	Het
Unc45b	T	A	11: 82,917,799	M237K	probably benign	Het
Usp8	A	G	2: 126,758,568	T1080A	probably benign	Het
Vmn2r65	T	A	7: 84,940,911	H599L	possibly damaging	Het
Vps13c	A	G	9: 67,953,860	N2891S	probably benign	Het
Xpo5	C	T	17: 46,240,896	Q1050*	probably null	Het
Zfp407	G	T	18: 84,209,793	T1897K	probably damaging	Het
Zzef1	C	T	11: 72,900,633	R2188*	probably null	Het

Other mutations in Galnt14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Galnt14	APN	17	73494232	missense	probably damaging	1.00
IGL01295:Galnt14	APN	17	73504919	missense	probably benign	0.01
IGL01578:Galnt14	APN	17	73535366	splice site	probably benign
IGL01833:Galnt14	APN	17	73504904	missense	probably benign
IGL02572:Galnt14	APN	17	73535267	missense	probably damaging	1.00
IGL02890:Galnt14	APN	17	73509524	critical splice donor site	probably null
IGL03145:Galnt14	APN	17	73504908	missense	possibly damaging	0.63
IGL03175:Galnt14	APN	17	73522654	missense	probably damaging	1.00
R0051:Galnt14	UTSW	17	73507859	missense	probably benign	0.00
R0112:Galnt14	UTSW	17	73574984	splice site	probably benign
R0167:Galnt14	UTSW	17	73522720	missense	probably damaging	1.00
R0525:Galnt14	UTSW	17	73545081	missense	probably damaging	1.00
R0675:Galnt14	UTSW	17	73545035	missense	probably damaging	1.00
R1192:Galnt14	UTSW	17	73545138	splice site	probably benign
R1335:Galnt14	UTSW	17	73526290	missense	probably damaging	1.00
R1549:Galnt14	UTSW	17	73525313	missense	possibly damaging	0.79
R1824:Galnt14	UTSW	17	73709939	missense	probably benign	0.01
R2061:Galnt14	UTSW	17	73512153	missense	probably damaging	1.00
R3844:Galnt14	UTSW	17	73709929	critical splice donor site	probably null
R4257:Galnt14	UTSW	17	73504904	missense	probably benign
R4364:Galnt14	UTSW	17	73512159	missense	probably damaging	0.99
R4664:Galnt14	UTSW	17	73507813	intron	probably benign
R4744:Galnt14	UTSW	17	73507833	missense	probably damaging	1.00
R4810:Galnt14	UTSW	17	73512121	missense	probably damaging	0.99
R4840:Galnt14	UTSW	17	73504898	missense	probably benign	0.01
R4846:Galnt14	UTSW	17	73536893	missense	probably benign	0.19
R5328:Galnt14	UTSW	17	73505459	missense	possibly damaging	0.46
R5507:Galnt14	UTSW	17	73495666	missense	probably damaging	0.98
R5816:Galnt14	UTSW	17	73574882	missense	probably damaging	1.00
R5872:Galnt14	UTSW	17	73574831	missense	probably damaging	1.00
R5933:Galnt14	UTSW	17	73526305	missense	probably benign	0.01
R6490:Galnt14	UTSW	17	73525370	missense	probably damaging	0.98
R7117:Galnt14	UTSW	17	73494195	missense	probably benign	0.00
R7128:Galnt14	UTSW	17	73545101	missense	probably benign
R7451:Galnt14	UTSW	17	73574809	missense	probably benign	0.00
R7604:Galnt14	UTSW	17	73504921	missense	possibly damaging	0.94
R7786:Galnt14	UTSW	17	73709981	missense	probably benign	0.00
R8693:Galnt14	UTSW	17	73526262	missense	probably damaging	1.00
R9573:Galnt14	UTSW	17	73495667	missense	probably damaging	1.00
X0067:Galnt14	UTSW	17	73509526	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- ACATCGGGTGCAGTCATGAG -3'
(R):5'- AAATCATGTCTCTGGCTGTCTCTG -3'

Sequencing Primer
(F):5'- ATGAGCTGTTCACAACCTGG -3'
(R):5'- GGCTGTCTCTGGCTATTCACAG -3'

Posted On

2014-10-16