Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02611:Galntl6'

300474

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

4930431L04Rik, 1700021K10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL02611

Quality Score

Status

Chromosome

Chromosomal Location

58227086-59365674 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58411450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 260 (M260T)

Ref Sequence

ENSEMBL: ENSMUSP00000145321 (fasta)

Gene Model

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

AlphaFold

E5D8G1

Predicted Effect

unknown
Transcript: ENSMUST00000098757
AA Change: M75T

SMART Domains

Protein: ENSMUSP00000096353
Gene: ENSMUSG00000096914
AA Change: M75T

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 damaging
Transcript: ENSMUST00000204128
AA Change: M260T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145321
Gene: ENSMUSG00000096914
AA Change: M260T

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Chac1	T	A	2: 119,183,934 (GRCm39)	Y179N	probably damaging	Het
Cyp2c37	T	G	19: 39,982,309 (GRCm39)	F103L	probably benign	Het
Dmp1	A	T	5: 104,360,380 (GRCm39)	D352V	probably damaging	Het
Dpp8	T	C	9: 64,963,075 (GRCm39)	I443T	probably benign	Het
Furin	G	A	7: 80,041,526 (GRCm39)	A544V	probably benign	Het
Gm17654	G	A	14: 43,816,462 (GRCm39)	T47I	possibly damaging	Het
Hadha	A	G	5: 30,333,941 (GRCm39)		probably benign	Het
Itfg2	T	A	6: 128,401,688 (GRCm39)	N30I	probably damaging	Het
Kntc1	T	A	5: 123,950,128 (GRCm39)	L1977H	probably damaging	Het
Lats1	T	C	10: 7,581,551 (GRCm39)	F779L	possibly damaging	Het
Ltbp4	T	C	7: 27,010,080 (GRCm39)	Y1160C	probably damaging	Het
Mcm7	C	A	5: 138,165,701 (GRCm39)	S401I	probably damaging	Het
Or2ag1b	G	T	7: 106,287,996 (GRCm39)	T314K	probably benign	Het
Or52n20	A	T	7: 104,320,614 (GRCm39)	D235V	possibly damaging	Het
Pcdh8	C	T	14: 80,005,107 (GRCm39)	V876I	probably benign	Het
Pfpl	T	C	19: 12,407,647 (GRCm39)	S633P	probably benign	Het
Psg29	G	A	7: 16,942,716 (GRCm39)	R239Q	probably benign	Het
St18	T	A	1: 6,839,114 (GRCm39)		probably benign	Het
Syt2	G	A	1: 134,669,620 (GRCm39)	C87Y	possibly damaging	Het
Unc79	A	G	12: 103,131,967 (GRCm39)	T2300A	probably damaging	Het

Other mutations in Galntl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Galntl6	APN	8	58,310,574 (GRCm39)	missense	probably damaging	1.00
IGL00557:Galntl6	APN	8	59,364,451 (GRCm39)	missense	possibly damaging	0.71
IGL01140:Galntl6	APN	8	58,411,356 (GRCm39)	missense	probably damaging	1.00
IGL01412:Galntl6	APN	8	58,230,328 (GRCm39)	missense	probably damaging	0.99
IGL01458:Galntl6	APN	8	58,880,743 (GRCm39)	missense	probably damaging	1.00
IGL01575:Galntl6	APN	8	58,880,710 (GRCm39)	intron	probably benign
IGL01700:Galntl6	APN	8	58,411,494 (GRCm39)	splice site	probably benign
IGL01710:Galntl6	APN	8	58,989,002 (GRCm39)	missense	probably damaging	0.97
IGL02880:Galntl6	APN	8	58,257,306 (GRCm39)	missense	probably benign	0.44
IGL03129:Galntl6	APN	8	58,880,750 (GRCm39)	missense	probably damaging	1.00
IGL03215:Galntl6	APN	8	59,364,436 (GRCm39)	missense	probably benign	0.00
IGL03249:Galntl6	APN	8	58,230,210 (GRCm39)	utr 3 prime	probably benign
Fragilistic	UTSW	8	58,989,018 (GRCm39)	missense	probably benign
Indubitably	UTSW	8	58,880,804 (GRCm39)	missense	probably damaging	1.00
PIT4677001:Galntl6	UTSW	8	58,310,621 (GRCm39)	missense	probably damaging	1.00
R0600:Galntl6	UTSW	8	58,290,217 (GRCm39)	splice site	probably null
R0731:Galntl6	UTSW	8	58,989,018 (GRCm39)	missense	probably benign
R0961:Galntl6	UTSW	8	59,364,374 (GRCm39)	missense	probably benign
R1381:Galntl6	UTSW	8	58,925,989 (GRCm39)	missense	probably damaging	0.99
R2137:Galntl6	UTSW	8	58,988,939 (GRCm39)	critical splice donor site	probably null
R4632:Galntl6	UTSW	8	58,880,857 (GRCm39)	missense	probably damaging	1.00
R4731:Galntl6	UTSW	8	58,880,847 (GRCm39)	missense	probably damaging	1.00
R4732:Galntl6	UTSW	8	58,880,847 (GRCm39)	missense	probably damaging	1.00
R4733:Galntl6	UTSW	8	58,880,847 (GRCm39)	missense	probably damaging	1.00
R4920:Galntl6	UTSW	8	58,880,807 (GRCm39)	missense	probably damaging	0.97
R4964:Galntl6	UTSW	8	59,152,945 (GRCm39)	intron	probably benign
R5357:Galntl6	UTSW	8	58,337,497 (GRCm39)	missense	probably damaging	0.99
R5526:Galntl6	UTSW	8	58,926,004 (GRCm39)	missense	probably benign
R5951:Galntl6	UTSW	8	58,415,436 (GRCm39)	missense	probably benign	0.06
R5965:Galntl6	UTSW	8	58,310,565 (GRCm39)	missense	probably benign	0.03
R6260:Galntl6	UTSW	8	58,337,515 (GRCm39)	missense	probably damaging	1.00
R6368:Galntl6	UTSW	8	59,364,475 (GRCm39)	missense	probably damaging	1.00
R6695:Galntl6	UTSW	8	58,880,804 (GRCm39)	missense	probably damaging	1.00
R7593:Galntl6	UTSW	8	58,230,293 (GRCm39)	missense	probably damaging	1.00
R7780:Galntl6	UTSW	8	58,880,733 (GRCm39)	critical splice donor site	probably null
R7833:Galntl6	UTSW	8	58,310,571 (GRCm39)	missense	probably benign
R7871:Galntl6	UTSW	8	58,290,222 (GRCm39)	missense	probably damaging	0.98
R8097:Galntl6	UTSW	8	58,415,407 (GRCm39)	splice site	probably null
R8891:Galntl6	UTSW	8	58,415,433 (GRCm39)	missense	probably damaging	1.00
R9177:Galntl6	UTSW	8	58,310,590 (GRCm39)	nonsense	probably null
R9196:Galntl6	UTSW	8	58,415,461 (GRCm39)	missense	probably damaging	1.00
R9384:Galntl6	UTSW	8	58,415,461 (GRCm39)	missense	probably damaging	1.00
R9454:Galntl6	UTSW	8	58,411,435 (GRCm39)	missense	probably damaging	0.99
R9474:Galntl6	UTSW	8	58,230,359 (GRCm39)	missense	probably damaging	0.99
R9482:Galntl6	UTSW	8	58,310,549 (GRCm39)	critical splice donor site	probably null
R9497:Galntl6	UTSW	8	58,290,410 (GRCm39)	missense	probably damaging	0.99
Z1176:Galntl6	UTSW	8	58,310,592 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16