Mutagenetix > Incidental Mutation

Incidental Mutation 'R5872:Galnt14'

455282

Institutional Source

Beutler Lab

Gene Symbol

Galnt14

Ensembl Gene

ENSMUSG00000024064

Gene Name

polypeptide N-acetylgalactosaminyltransferase 14

Synonyms

0610033M06Rik

MMRRC Submission

044079-MU

Accession Numbers

Essential gene?

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

Stock #

R5872 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73800223-74017448 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73881826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 91 (R91Q)

Ref Sequence

ENSEMBL: ENSMUSP00000108210 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024858] [ENSMUST00000112591]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024858
AA Change: R91Q

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000024858
Gene: ENSMUSG00000024064
AA Change: R91Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000112591
AA Change: R91Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108210
Gene: ENSMUSG00000024064
AA Change: R91Q

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	111	359	1.1e-10	PFAM
Pfam:Glycos_transf_2	114	291	2.4e-27	PFAM
Pfam:Glyco_tranf_2_2	114	333	1.7e-8	PFAM
Pfam:Glyco_transf_7C	270	340	9e-8	PFAM
low complexity region	415	429	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146565

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.6%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,382,309 (GRCm39)	S1219P	possibly damaging	Het
A2ml1	A	G	6: 128,538,489 (GRCm39)	Y644H	probably damaging	Het
Abca9	T	G	11: 110,007,902 (GRCm39)	R1232S	possibly damaging	Het
Acsf2	C	T	11: 94,463,975 (GRCm39)	V70M	probably benign	Het
Ampd1	A	G	3: 102,986,446 (GRCm39)	I42V	probably benign	Het
Arhgap10	A	G	8: 78,071,267 (GRCm39)		probably null	Het
Atp1a4	A	T	1: 172,071,975 (GRCm39)	L432Q	probably damaging	Het
Bbs12	T	A	3: 37,374,598 (GRCm39)	C349S	possibly damaging	Het
Bnc2	A	G	4: 84,211,007 (GRCm39)	V479A	possibly damaging	Het
Cald1	A	T	6: 34,748,043 (GRCm39)	K761*	probably null	Het
Cd177	C	T	7: 24,451,688 (GRCm39)	G443R	probably null	Het
Cdc42bpb	T	C	12: 111,292,410 (GRCm39)	D375G	probably damaging	Het
Chsy3	T	C	18: 59,309,268 (GRCm39)	Y174H	probably damaging	Het
Cmya5	T	C	13: 93,233,943 (GRCm39)	M382V	probably benign	Het
Col1a2	G	A	6: 4,531,926 (GRCm39)	S782N	unknown	Het
Crtac1	C	T	19: 42,297,629 (GRCm39)		probably null	Het
Csmd3	T	A	15: 47,445,923 (GRCm39)	D3683V	probably damaging	Het
Ctrc	A	G	4: 141,572,354 (GRCm39)	L62P	probably damaging	Het
Cyp3a57	A	T	5: 145,307,867 (GRCm39)	K208*	probably null	Het
Dnaaf2	A	T	12: 69,244,122 (GRCm39)	L313Q	probably damaging	Het
Dtl	A	G	1: 191,278,680 (GRCm39)	L394P	probably benign	Het
Ehhadh	T	C	16: 21,585,305 (GRCm39)	E192G	probably benign	Het
Fads2	T	C	19: 10,059,997 (GRCm39)	I226V	probably benign	Het
Fat2	T	C	11: 55,161,208 (GRCm39)	E3174G	probably damaging	Het
Hdhd5	G	T	6: 120,487,252 (GRCm39)	D368E	probably benign	Het
Hk3	T	A	13: 55,158,617 (GRCm39)	I528F	probably damaging	Het
Il10ra	A	C	9: 45,166,951 (GRCm39)	S533R	possibly damaging	Het
Itpr3	G	T	17: 27,305,950 (GRCm39)	K169N	probably benign	Het
Lrrc17	A	G	5: 21,780,264 (GRCm39)	T413A	probably benign	Het
Mcm2	C	T	6: 88,861,053 (GRCm39)	D882N	probably benign	Het
Met	T	C	6: 17,562,197 (GRCm39)	V1186A	probably damaging	Het
Msh5	C	T	17: 35,248,628 (GRCm39)		probably null	Het
Nav3	T	C	10: 109,600,648 (GRCm39)	I1326M	probably damaging	Het
Nek10	A	G	14: 14,850,896 (GRCm38)	I314V	probably benign	Het
Or10g1	A	C	14: 52,648,225 (GRCm39)	F35V	probably damaging	Het
Or8b53	T	A	9: 38,667,412 (GRCm39)	Y143N	probably benign	Het
Pim1	A	G	17: 29,712,720 (GRCm39)	E211G	probably damaging	Het
Plaat1	T	A	16: 29,039,189 (GRCm39)	Y90N	probably benign	Het
Ppp1r12b	A	T	1: 134,704,144 (GRCm39)	D903E	probably benign	Het
Ptpn14	T	C	1: 189,583,229 (GRCm39)	L692P	probably benign	Het
Ptprt	A	G	2: 161,977,138 (GRCm39)	C387R	probably damaging	Het
Qrfprl	A	G	6: 65,418,369 (GRCm39)		probably benign	Het
Scarb1	A	G	5: 125,381,341 (GRCm39)	Y68H	possibly damaging	Het
Shisa6	T	A	11: 66,108,800 (GRCm39)	D359V	probably damaging	Het
Shprh	T	C	10: 11,063,817 (GRCm39)	S1297P	probably damaging	Het
Sik1	T	C	17: 32,069,125 (GRCm39)	D250G	probably damaging	Het
Slamf7	A	G	1: 171,466,635 (GRCm39)	L190S	probably damaging	Het
Slc22a3	G	A	17: 12,652,355 (GRCm39)	P423L	probably damaging	Het
Slc35e2	A	T	4: 155,697,137 (GRCm39)	E217V	probably damaging	Het
Spocd1	A	T	4: 129,850,254 (GRCm39)	N760I	probably damaging	Het
Tas2r136	G	T	6: 132,754,294 (GRCm39)	P278T	possibly damaging	Het
Tchhl1	A	T	3: 93,377,836 (GRCm39)	Q180L	probably benign	Het
Tmem151b	T	A	17: 45,858,010 (GRCm39)	T79S	probably benign	Het
Tomm70a	T	A	16: 56,965,105 (GRCm39)	C430S	probably benign	Het
Trbv16	T	A	6: 41,128,936 (GRCm39)	L40Q	probably damaging	Het
Trmt1l	T	G	1: 151,316,594 (GRCm39)	I32S	probably damaging	Het
Ubr4	A	G	4: 139,152,641 (GRCm39)	T2011A	probably damaging	Het
Urb1	C	T	16: 90,569,652 (GRCm39)	W1358*	probably null	Het
Usp31	T	G	7: 121,248,698 (GRCm39)	H915P	probably benign	Het
Vmn2r10	A	T	5: 109,151,377 (GRCm39)	M79K	possibly damaging	Het
Vmn2r14	A	G	5: 109,369,222 (GRCm39)	I117T	probably benign	Het
Vps13b	A	G	15: 35,869,497 (GRCm39)	H2667R	possibly damaging	Het
Vwa5b1	G	A	4: 138,305,962 (GRCm39)	T912M	possibly damaging	Het
Zfp709	G	A	8: 72,643,363 (GRCm39)	C264Y	probably benign	Het
Zkscan5	A	G	5: 145,156,898 (GRCm39)	I467V	probably benign	Het
Zxdc	A	T	6: 90,347,281 (GRCm39)	D214V	probably damaging	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
R5507:Galnt14	UTSW	17	73,802,661 (GRCm39)	missense	probably damaging	0.98
R5816:Galnt14	UTSW	17	73,881,877 (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'- GTGTGCAAGCAGTGTGTAGC -3'
(R):5'- ATCTCTGGCTGGCTGTTGAC -3'

Sequencing Primer
(F):5'- GTAGCACAGAAACTTTATCCTGTCAC -3'
(R):5'- GGGGAGCCTTCTCACAGACTTTC -3'

Posted On

2017-02-10