Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01700:Galntl6'

104456

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Galntl6

Ensembl Gene

ENSMUSG00000096914

Gene Name

UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL01700

Quality Score

Status

Chromosome

Chromosomal Location

57774052-58912640 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 57958460 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145321 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000204128]

AlphaFold

E5D8G1

Predicted Effect

probably benign
Transcript: ENSMUST00000098757

SMART Domains

Protein: ENSMUSP00000096353
Gene: ENSMUSG00000096914

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	1	144	1.6e-18	PFAM
Pfam:Glyco_transf_7C	113	187	3.6e-12	PFAM
RICIN	268	401	7.9e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204128

SMART Domains

Protein: ENSMUSP00000145321
Gene: ENSMUSG00000096914

Domain	Start	End	E-Value	Type
transmembrane domain	13	31	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	140	404	2.1e-9	PFAM
Pfam:Glycos_transf_2	143	328	7.3e-33	PFAM
Pfam:Glyco_tranf_2_2	143	356	1.2e-8	PFAM
Pfam:Glyco_transf_7C	297	371	6.2e-12	PFAM
RICIN	452	585	7.9e-21	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,280,390	M1778L	probably benign	Het
Aldh6a1	C	T	12: 84,439,538	C202Y	probably damaging	Het
Ankrd36	A	G	11: 5,632,198	T276A	probably benign	Het
Ankrd55	T	C	13: 112,381,168	I556T	probably benign	Het
Aqp4	A	G	18: 15,399,865	I57T	probably benign	Het
Atp1a1	T	C	3: 101,594,258	D43G	possibly damaging	Het
Cyld	G	A	8: 88,707,099	R172H	probably damaging	Het
Diexf	G	A	1: 193,118,265	P416S	probably damaging	Het
Ear2	A	T	14: 44,103,259	R125*	probably null	Het
Efcab9	T	C	11: 32,527,451	R24G	probably damaging	Het
F7	C	A	8: 13,028,685	Q39K	probably benign	Het
Kcnj5	A	G	9: 32,322,629	V130A	probably damaging	Het
Magee2	A	G	X: 104,855,968	I359T	possibly damaging	Het
Myh1	T	G	11: 67,211,412	I843S	probably damaging	Het
Nfat5	T	A	8: 107,339,130	M98K	probably damaging	Het
Nrip3	T	A	7: 109,761,867	N200I	possibly damaging	Het
Olfr818	A	T	10: 129,945,941	N40K	probably damaging	Het
Phkb	A	T	8: 86,017,465	Q581L	probably benign	Het
Plxdc2	T	C	2: 16,512,115	V69A	probably benign	Het
Pou3f1	G	T	4: 124,658,857	W384L	probably damaging	Het
Prrc2a	G	A	17: 35,150,667	S1890L	possibly damaging	Het
Psmc1	C	A	12: 100,113,078	P27H	probably damaging	Het
Pvr	C	A	7: 19,909,232	A359S	probably benign	Het
Rasal1	A	T	5: 120,676,817	I711F	probably benign	Het
Ror1	C	T	4: 100,409,771	A223V	probably damaging	Het
Slc22a16	A	T	10: 40,603,908	I638L	unknown	Het
Slfn10-ps	C	T	11: 83,029,112		noncoding transcript	Het
Sptbn4	A	G	7: 27,404,268	L1176P	probably damaging	Het
Usp21	A	T	1: 171,283,402	F421I	probably damaging	Het
Vmn1r61	T	A	7: 5,611,203	R37S	possibly damaging	Het
Vps13a	G	A	19: 16,744,857	R364*	probably null	Het
Vps29	A	G	5: 122,362,867	Y165C	probably damaging	Het
Wdfy4	T	C	14: 33,020,238		probably benign	Het
Wdr24	A	G	17: 25,825,828	D219G	probably damaging	Het
Xpo1	T	C	11: 23,276,422		probably benign	Het
Zfp831	C	A	2: 174,644,918	T462K	possibly damaging	Het
Zswim5	T	C	4: 116,986,461		probably benign	Het

Other mutations in Galntl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Galntl6	APN	8	57857540	missense	probably damaging	1.00
IGL00557:Galntl6	APN	8	58911417	missense	possibly damaging	0.71
IGL01140:Galntl6	APN	8	57958322	missense	probably damaging	1.00
IGL01412:Galntl6	APN	8	57777294	missense	probably damaging	0.99
IGL01458:Galntl6	APN	8	58427709	missense	probably damaging	1.00
IGL01575:Galntl6	APN	8	58427676	intron	probably benign
IGL01710:Galntl6	APN	8	58535968	missense	probably damaging	0.97
IGL02611:Galntl6	APN	8	57958416	missense	probably damaging	1.00
IGL02880:Galntl6	APN	8	57804272	missense	probably benign	0.44
IGL03129:Galntl6	APN	8	58427716	missense	probably damaging	1.00
IGL03215:Galntl6	APN	8	58911402	missense	probably benign	0.00
IGL03249:Galntl6	APN	8	57777176	utr 3 prime	probably benign
Fragilistic	UTSW	8	58535984	missense	probably benign
Indubitably	UTSW	8	58427770	missense	probably damaging	1.00
PIT4677001:Galntl6	UTSW	8	57857587	missense	probably damaging	1.00
R0600:Galntl6	UTSW	8	57837183	splice site	probably null
R0731:Galntl6	UTSW	8	58535984	missense	probably benign
R0961:Galntl6	UTSW	8	58911340	missense	probably benign
R1381:Galntl6	UTSW	8	58472955	missense	probably damaging	0.99
R2137:Galntl6	UTSW	8	58535905	critical splice donor site	probably null
R4632:Galntl6	UTSW	8	58427823	missense	probably damaging	1.00
R4731:Galntl6	UTSW	8	58427813	missense	probably damaging	1.00
R4732:Galntl6	UTSW	8	58427813	missense	probably damaging	1.00
R4733:Galntl6	UTSW	8	58427813	missense	probably damaging	1.00
R4920:Galntl6	UTSW	8	58427773	missense	probably damaging	0.97
R4964:Galntl6	UTSW	8	58699911	intron	probably benign
R5357:Galntl6	UTSW	8	57884463	missense	probably damaging	0.99
R5526:Galntl6	UTSW	8	58472970	missense	probably benign
R5951:Galntl6	UTSW	8	57962402	missense	probably benign	0.06
R5965:Galntl6	UTSW	8	57857531	missense	probably benign	0.03
R6260:Galntl6	UTSW	8	57884481	missense	probably damaging	1.00
R6368:Galntl6	UTSW	8	58911441	missense	probably damaging	1.00
R6695:Galntl6	UTSW	8	58427770	missense	probably damaging	1.00
R7593:Galntl6	UTSW	8	57777259	missense	probably damaging	1.00
R7780:Galntl6	UTSW	8	58427699	critical splice donor site	probably null
R7833:Galntl6	UTSW	8	57857537	missense	probably benign
R7871:Galntl6	UTSW	8	57837188	missense	probably damaging	0.98
R8097:Galntl6	UTSW	8	57962373	splice site	probably null
R8891:Galntl6	UTSW	8	57962399	missense	probably damaging	1.00
R9177:Galntl6	UTSW	8	57857556	nonsense	probably null
R9196:Galntl6	UTSW	8	57962427	missense	probably damaging	1.00
R9384:Galntl6	UTSW	8	57962427	missense	probably damaging	1.00
R9454:Galntl6	UTSW	8	57958401	missense	probably damaging	0.99
R9474:Galntl6	UTSW	8	57777325	missense	probably damaging	0.99
R9482:Galntl6	UTSW	8	57857515	critical splice donor site	probably null
R9497:Galntl6	UTSW	8	57837376	missense	probably damaging	0.99
Z1176:Galntl6	UTSW	8	57857558	missense	probably damaging	0.99

Posted On

2014-01-21