Mutagenetix > Incidental Mutation

Incidental Mutation 'R5507:Galnt14'

431010

Institutional Source

Beutler Lab

Gene Symbol

Galnt14

Ensembl Gene

ENSMUSG00000024064

Gene Name

polypeptide N-acetylgalactosaminyltransferase 14

Synonyms

0610033M06Rik

MMRRC Submission

043068-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R5507 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73800223-74017448 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73802661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 477 (V477A)

Ref Sequence

ENSEMBL: ENSMUSP00000024858 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000024858
AA Change: V477A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024858
Gene: ENSMUSG00000024064
AA Change: V477A

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

Meta Mutation Damage Score

0.2206

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.2%

Validation Efficiency

100% (66/66)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	G	4: 39,451,084 (GRCm39)	T97A	probably damaging	Het
1700017N19Rik	T	C	10: 100,445,095 (GRCm39)	S27P	probably benign	Het
Acoxl	C	A	2: 127,726,394 (GRCm39)	A256E	probably damaging	Het
Akap9	A	G	5: 4,018,683 (GRCm39)	E1088G	probably benign	Het
Alox12	T	C	11: 70,145,238 (GRCm39)	T112A	possibly damaging	Het
Ampd2	A	G	3: 107,984,929 (GRCm39)	V379A	probably damaging	Het
Ap4e1	C	A	2: 126,850,818 (GRCm39)	H49N	probably damaging	Het
Arhgap11a	T	C	2: 113,672,023 (GRCm39)	T260A	probably benign	Het
Atg2a	T	C	19: 6,295,100 (GRCm39)	F171S	possibly damaging	Het
Bpifb9b	A	T	2: 154,158,947 (GRCm39)	Y488F	possibly damaging	Het
C2cd2	T	C	16: 97,682,820 (GRCm39)	T139A	probably benign	Het
Cct8l1	A	T	5: 25,721,377 (GRCm39)	T31S	probably benign	Het
Cdhr1	A	T	14: 36,804,802 (GRCm39)	N469K	probably damaging	Het
Chga	T	C	12: 102,528,868 (GRCm39)	S282P	probably benign	Het
Chrnb4	T	G	9: 54,942,296 (GRCm39)	H326P	probably damaging	Het
Cntnap1	A	G	11: 101,074,303 (GRCm39)	T748A	probably benign	Het
Cpsf3	T	A	12: 21,347,929 (GRCm39)	L250H	probably damaging	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Dppa5a	T	A	9: 78,275,353 (GRCm39)	D10V	possibly damaging	Het
Dsc2	G	A	18: 20,179,336 (GRCm39)	T244I	probably damaging	Het
Elavl4	T	C	4: 110,070,403 (GRCm39)	T144A	probably benign	Het
Ephb1	C	T	9: 101,813,315 (GRCm39)	V776M	probably damaging	Het
Fcrl1	C	T	3: 87,298,549 (GRCm39)	S348F	probably benign	Het
Fga	T	A	3: 82,940,643 (GRCm39)	W766R	probably damaging	Het
Gcdh	A	G	8: 85,619,486 (GRCm39)	L103P	probably damaging	Het
Gm27013	G	A	6: 130,652,942 (GRCm39)	T840I	probably damaging	Het
Gpr179	A	T	11: 97,229,156 (GRCm39)	W1000R	probably damaging	Het
Hectd4	C	T	5: 121,419,164 (GRCm39)	A581V	unknown	Het
Ints12	T	A	3: 132,814,921 (GRCm39)	V376E	probably damaging	Het
Krt77	T	C	15: 101,769,665 (GRCm39)	I402V	probably benign	Het
Marchf1	T	C	8: 66,871,542 (GRCm39)	V102A	probably damaging	Het
Meis1	A	T	11: 18,966,168 (GRCm39)	N68K	probably benign	Het
Mthfd1l	A	G	10: 4,056,432 (GRCm39)	E916G	probably benign	Het
Muc5ac	T	C	7: 141,361,569 (GRCm39)	F1627L	possibly damaging	Het
Myef2	A	T	2: 124,958,623 (GRCm39)	M102K	probably benign	Het
Naip6	A	C	13: 100,435,423 (GRCm39)	H1033Q	probably benign	Het
Nid1	T	A	13: 13,663,622 (GRCm39)	C760*	probably null	Het
Nt5dc1	A	T	10: 34,273,226 (GRCm39)	C191S	probably benign	Het
Nup214	A	G	2: 31,878,188 (GRCm39)	E285G	possibly damaging	Het
Nvl	A	G	1: 180,962,601 (GRCm39)	L123P	probably damaging	Het
Or5t9	T	A	2: 86,659,661 (GRCm39)	H188Q	probably damaging	Het
Otog	A	G	7: 45,911,123 (GRCm39)	E658G	probably damaging	Het
Pam16	G	T	16: 4,435,880 (GRCm39)		probably benign	Het
Psg17	T	C	7: 18,553,851 (GRCm39)	D133G	probably benign	Het
Rabgap1l	A	G	1: 160,178,898 (GRCm39)	S21P	possibly damaging	Het
Rgs22	T	A	15: 36,099,798 (GRCm39)	M306L	probably damaging	Het
Ruvbl1	A	G	6: 88,444,582 (GRCm39)	K59R	probably benign	Het
Samd9l	T	C	6: 3,373,898 (GRCm39)	E1121G	possibly damaging	Het
Serpinb13	A	G	1: 106,926,332 (GRCm39)	N169S	probably benign	Het
Setbp1	T	A	18: 79,129,927 (GRCm39)	T102S	probably damaging	Het
Syn3	A	T	10: 85,916,090 (GRCm39)	S299T	probably benign	Het
Taar7a	A	G	10: 23,868,529 (GRCm39)	L284P	probably damaging	Het
Tlr6	C	A	5: 65,110,749 (GRCm39)	Q719H	probably damaging	Het
Tmem131	T	A	1: 36,928,361 (GRCm39)	D76V	probably damaging	Het
Tradd	T	G	8: 105,986,257 (GRCm39)	D145A	possibly damaging	Het
Usp20	A	T	2: 30,900,238 (GRCm39)	M251L	probably benign	Het
Vmn2r96	T	A	17: 18,818,091 (GRCm39)	L556Q	probably damaging	Het
Xrcc2	A	G	5: 25,897,317 (GRCm39)	S211P	probably benign	Het

Other mutations in Galnt14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Galnt14	APN	17	73,801,227 (GRCm39)	missense	probably damaging	1.00
IGL01295:Galnt14	APN	17	73,811,914 (GRCm39)	missense	probably benign	0.01
IGL01578:Galnt14	APN	17	73,842,361 (GRCm39)	splice site	probably benign
IGL01833:Galnt14	APN	17	73,811,899 (GRCm39)	missense	probably benign
IGL02572:Galnt14	APN	17	73,842,262 (GRCm39)	missense	probably damaging	1.00
IGL02890:Galnt14	APN	17	73,816,519 (GRCm39)	critical splice donor site	probably null
IGL03145:Galnt14	APN	17	73,811,903 (GRCm39)	missense	possibly damaging	0.63
IGL03175:Galnt14	APN	17	73,829,649 (GRCm39)	missense	probably damaging	1.00
R0051:Galnt14	UTSW	17	73,814,854 (GRCm39)	missense	probably benign	0.00
R0112:Galnt14	UTSW	17	73,881,979 (GRCm39)	splice site	probably benign
R0167:Galnt14	UTSW	17	73,829,715 (GRCm39)	missense	probably damaging	1.00
R0525:Galnt14	UTSW	17	73,852,076 (GRCm39)	missense	probably damaging	1.00
R0675:Galnt14	UTSW	17	73,852,030 (GRCm39)	missense	probably damaging	1.00
R1192:Galnt14	UTSW	17	73,852,133 (GRCm39)	splice site	probably benign
R1335:Galnt14	UTSW	17	73,833,285 (GRCm39)	missense	probably damaging	1.00
R1549:Galnt14	UTSW	17	73,832,308 (GRCm39)	missense	possibly damaging	0.79
R1824:Galnt14	UTSW	17	74,016,934 (GRCm39)	missense	probably benign	0.01
R2061:Galnt14	UTSW	17	73,819,148 (GRCm39)	missense	probably damaging	1.00
R2259:Galnt14	UTSW	17	73,801,261 (GRCm39)	missense	probably benign	0.00
R3844:Galnt14	UTSW	17	74,016,924 (GRCm39)	critical splice donor site	probably null
R4257:Galnt14	UTSW	17	73,811,899 (GRCm39)	missense	probably benign
R4364:Galnt14	UTSW	17	73,819,154 (GRCm39)	missense	probably damaging	0.99
R4664:Galnt14	UTSW	17	73,814,808 (GRCm39)	intron	probably benign
R4744:Galnt14	UTSW	17	73,814,828 (GRCm39)	missense	probably damaging	1.00
R4810:Galnt14	UTSW	17	73,819,116 (GRCm39)	missense	probably damaging	0.99
R4840:Galnt14	UTSW	17	73,811,893 (GRCm39)	missense	probably benign	0.01
R4846:Galnt14	UTSW	17	73,843,888 (GRCm39)	missense	probably benign	0.19
R5328:Galnt14	UTSW	17	73,812,454 (GRCm39)	missense	possibly damaging	0.46
R5816:Galnt14	UTSW	17	73,881,877 (GRCm39)	missense	probably damaging	1.00
R5872:Galnt14	UTSW	17	73,881,826 (GRCm39)	missense	probably damaging	1.00
R5933:Galnt14	UTSW	17	73,833,300 (GRCm39)	missense	probably benign	0.01
R6490:Galnt14	UTSW	17	73,832,365 (GRCm39)	missense	probably damaging	0.98
R7117:Galnt14	UTSW	17	73,801,190 (GRCm39)	missense	probably benign	0.00
R7128:Galnt14	UTSW	17	73,852,096 (GRCm39)	missense	probably benign
R7451:Galnt14	UTSW	17	73,881,804 (GRCm39)	missense	probably benign	0.00
R7604:Galnt14	UTSW	17	73,811,916 (GRCm39)	missense	possibly damaging	0.94
R7786:Galnt14	UTSW	17	74,016,976 (GRCm39)	missense	probably benign	0.00
R8693:Galnt14	UTSW	17	73,833,257 (GRCm39)	missense	probably damaging	1.00
R9573:Galnt14	UTSW	17	73,802,662 (GRCm39)	missense	probably damaging	1.00
X0067:Galnt14	UTSW	17	73,816,521 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- ACTACCGACACTGTTGAGTCC -3'
(R):5'- ACTTTCGGGAACATTGGAACTTC -3'

Sequencing Primer
(F):5'- TATCCCTGACTCTGACTGGAAGG -3'
(R):5'- CGGGAACATTGGAACTTCTTATCCAG -3'

Posted On

2016-10-05