Mutagenetix > Incidental Mutation

Incidental Mutation 'R5933:Galnt14'

462054

Institutional Source

Beutler Lab

Gene Symbol

Galnt14

Ensembl Gene

ENSMUSG00000024064

Gene Name

polypeptide N-acetylgalactosaminyltransferase 14

Synonyms

0610033M06Rik

MMRRC Submission

044127-MU

Accession Numbers

Essential gene?

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

Stock #

R5933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73800223-74017448 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73833300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 225 (C225S)

Ref Sequence

ENSEMBL: ENSMUSP00000024858 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024858
AA Change: C225S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000024858
Gene: ENSMUSG00000024064
AA Change: C225S

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 benign
Transcript: ENSMUST00000112591
AA Change: C225S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000108210
Gene: ENSMUSG00000024064
AA Change: C225S

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

Meta Mutation Damage Score

0.2052

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

94% (99/105)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,776,109 (GRCm39)	P1766L	probably damaging	Het
Abca13	A	G	11: 9,199,658 (GRCm39)	Q119R	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Aipl1	A	C	11: 71,921,108 (GRCm39)	C237G	probably benign	Het
Ankdd1a	C	T	9: 65,416,978 (GRCm39)	A154T	probably benign	Het
Arglu1	T	C	8: 8,740,047 (GRCm39)	S91G	probably benign	Het
Arhgef33	C	A	17: 80,644,709 (GRCm39)	H13N	probably benign	Het
Atp1a4	A	G	1: 172,059,841 (GRCm39)	I796T	possibly damaging	Het
Birc6	C	G	17: 74,906,232 (GRCm39)	S1374R	probably damaging	Het
Birc6	T	A	17: 74,906,233 (GRCm39)	S72T	probably damaging	Het
Bmpr1b	T	C	3: 141,577,128 (GRCm39)	*59W	probably null	Het
Btbd16	A	T	7: 130,386,011 (GRCm39)	Q63L	probably damaging	Het
Cacna1c	C	T	6: 118,589,541 (GRCm39)	R1592H	probably damaging	Het
Caps2	G	A	10: 112,051,351 (GRCm39)	E541K	probably benign	Het
Card9	T	C	2: 26,242,509 (GRCm39)	E500G	probably damaging	Het
Carnmt1	T	C	19: 18,681,469 (GRCm39)	V396A	probably benign	Het
Ccnl1	T	A	3: 65,855,763 (GRCm39)	K320M	probably damaging	Het
Cdh20	A	C	1: 104,912,396 (GRCm39)	D550A	probably damaging	Het
Cdhr1	T	A	14: 36,811,419 (GRCm39)	T231S	probably benign	Het
Cenpe	T	C	3: 134,967,389 (GRCm39)	V2177A	probably benign	Het
Cfap69	A	G	5: 5,690,183 (GRCm39)	C161R	probably damaging	Het
Ctsd	C	T	7: 141,930,316 (GRCm39)	V403I	probably benign	Het
Cyth1	C	T	11: 118,076,585 (GRCm39)		probably null	Het
Dazl	A	T	17: 50,594,781 (GRCm39)		probably null	Het
Disp3	A	T	4: 148,325,770 (GRCm39)	C1329*	probably null	Het
Dld	C	T	12: 31,383,982 (GRCm39)	V374I	probably benign	Het
Dnah7c	T	C	1: 46,558,375 (GRCm39)	Y494H	probably damaging	Het
Dnttip2	T	A	3: 122,069,217 (GRCm39)	M144K	probably benign	Het
Drc1	A	T	5: 30,502,873 (GRCm39)	D132V	probably damaging	Het
Enpp6	A	G	8: 47,519,039 (GRCm39)	D269G	probably benign	Het
Ephx4	T	A	5: 107,551,631 (GRCm39)		probably null	Het
Evl	T	C	12: 108,649,516 (GRCm39)	S345P	possibly damaging	Het
Fam193a	A	T	5: 34,623,024 (GRCm39)	D1204V	probably damaging	Het
Fat2	A	T	11: 55,174,877 (GRCm39)	D1945E	probably damaging	Het
Fat4	T	C	3: 39,005,524 (GRCm39)		probably null	Het
Fbln7	A	T	2: 128,719,418 (GRCm39)	M72L	probably benign	Het
Flnc	T	C	6: 29,441,105 (GRCm39)	V353A	probably damaging	Het
Fry	T	C	5: 150,314,265 (GRCm39)		probably benign	Het
Gapvd1	T	C	2: 34,574,303 (GRCm39)	S1265G	probably benign	Het
Gm13030	A	G	4: 138,598,515 (GRCm39)	F136S	unknown	Het
Gucy1a1	T	C	3: 82,002,114 (GRCm39)	H655R	probably damaging	Het
Hk1	A	G	10: 62,105,773 (GRCm39)	L890P	probably damaging	Het
Igfn1	T	A	1: 135,898,341 (GRCm39)	R742*	probably null	Het
Igkv12-49	T	C	6: 69,693,553 (GRCm39)		noncoding transcript	Het
Igkv2-109	T	A	6: 68,279,965 (GRCm39)	L62Q	possibly damaging	Het
Itgb3	A	G	11: 104,528,805 (GRCm39)	T311A	possibly damaging	Het
Kl	A	G	5: 150,912,948 (GRCm39)	E899G	probably damaging	Het
Kyat3	A	T	3: 142,429,021 (GRCm39)	D151V	probably damaging	Het
Morc2b	A	T	17: 33,357,583 (GRCm39)	M63K	possibly damaging	Het
Mtbp	T	A	15: 55,434,723 (GRCm39)	F298L	possibly damaging	Het
Mtmr3	C	T	11: 4,448,951 (GRCm39)	V272I	probably benign	Het
Muc4	A	G	16: 32,574,480 (GRCm39)	T977A	probably benign	Het
Nebl	G	A	2: 17,408,998 (GRCm39)	H367Y	probably benign	Het
Nop58	T	A	1: 59,743,824 (GRCm39)	Y274*	probably null	Het
Nuak1	T	A	10: 84,210,666 (GRCm39)	Q474L	probably damaging	Het
Obscn	A	G	11: 58,889,331 (GRCm39)	S7523P	unknown	Het
Oosp3	T	A	19: 11,682,753 (GRCm39)	D140E	probably benign	Het
Or52z15	T	A	7: 103,332,680 (GRCm39)	C242S	probably damaging	Het
Padi2	G	A	4: 140,644,952 (GRCm39)	R62H	probably benign	Het
Patl1	A	G	19: 11,917,136 (GRCm39)	N661S	probably benign	Het
Pcyox1l	G	T	18: 61,831,544 (GRCm39)	N238K	probably benign	Het
Pmch	A	G	10: 87,927,011 (GRCm39)	T5A	probably benign	Het
Polr3h	A	G	15: 81,800,835 (GRCm39)	L169P	probably damaging	Het
Ptpn4	A	G	1: 119,615,453 (GRCm39)	V567A	probably damaging	Het
Rasgrp2	T	G	19: 6,452,543 (GRCm39)	F39V	probably damaging	Het
Setd1b	G	A	5: 123,296,815 (GRCm39)		probably benign	Het
Sh3glb2	A	T	2: 30,240,401 (GRCm39)		probably null	Het
Slc46a3	A	T	5: 147,830,700 (GRCm39)	N44K	probably benign	Het
Slc9b1	T	A	3: 135,099,756 (GRCm39)	N425K	probably benign	Het
Slfn14	A	T	11: 83,170,288 (GRCm39)	V452E	probably damaging	Het
Slfn8	A	T	11: 82,894,161 (GRCm39)	M826K	probably benign	Het
Slit3	G	A	11: 35,520,578 (GRCm39)	V572M	probably benign	Het
Smr3a	C	A	5: 88,155,873 (GRCm39)		probably null	Het
Snap29	T	C	16: 17,224,194 (GRCm39)	S70P	probably damaging	Het
Svopl	T	A	6: 37,993,949 (GRCm39)		probably benign	Het
Tbc1d17	A	T	7: 44,494,761 (GRCm39)	F186I	probably damaging	Het
Tgm6	T	C	2: 129,983,176 (GRCm39)	V255A	probably damaging	Het
Tjp1	G	T	7: 64,952,600 (GRCm39)	T1498K	probably benign	Het
Tkfc	C	A	19: 10,574,711 (GRCm39)	E176D	probably benign	Het
Tmem102	C	T	11: 69,694,506 (GRCm39)	V489I	probably damaging	Het
Ttn	A	G	2: 76,551,781 (GRCm39)	V22930A	probably damaging	Het
Tyms	A	T	5: 30,278,357 (GRCm39)		probably null	Het
Uaca	T	A	9: 60,748,238 (GRCm39)	D67E	probably damaging	Het
Unc119b	G	A	5: 115,265,508 (GRCm39)		probably benign	Het
Usp29	A	T	7: 6,964,744 (GRCm39)	T196S	probably benign	Het
Usp37	A	G	1: 74,525,141 (GRCm39)	S228P	probably damaging	Het
Usp42	C	A	5: 143,701,270 (GRCm39)	A918S	probably benign	Het
Vmn2r72	T	A	7: 85,387,058 (GRCm39)	L835F	probably benign	Het
Vps13a	T	C	19: 16,637,894 (GRCm39)	T2396A	probably benign	Het
Whrn	A	T	4: 63,412,945 (GRCm39)	S176T	probably damaging	Het
Zbtb42	T	C	12: 112,647,055 (GRCm39)	F410S	probably damaging	Het
Zfp616	T	C	11: 73,973,952 (GRCm39)	S74P	probably damaging	Het
Zswim6	A	G	13: 107,880,642 (GRCm39)		noncoding transcript	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
R5872:Galnt14	UTSW	17	73,881,826 (GRCm39)	missense	probably damaging	1.00
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'- CATGCCATACAACCAGGAGG -3'
(R):5'- GGCCTCAGGTGAAAGAATTTGG -3'

Sequencing Primer
(F):5'- CCCACTTTGAGATGAGATGATGG -3'
(R):5'- GGAGCCCAGGTTCCCTTTCTG -3'

Posted On

2017-02-28