Mutagenetix > Incidental Mutations

Incidental Mutation 'R0731:Galntl6'

67558

Institutional Source

Beutler Lab

Gene Symbol

Galntl6

Ensembl Gene

ENSMUSG00000096914

Gene Name

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

Synonyms

MMRRC Submission

038912-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R0731 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57774052-58912640 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58535984 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 57 (F57L)

Ref Sequence

ENSEMBL: ENSMUSP00000145321 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000146513] [ENSMUST00000188531] [ENSMUST00000203398] [ENSMUST00000204128]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000077447

SMART Domains

Protein: ENSMUSP00000076660
Gene: ENSMUSG00000061864

Domain	Start	End	E-Value	Type
transmembrane domain	13	31	N/A	INTRINSIC
Pfam:Glycos_transf_2	143	188	4.9e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125865

Predicted Effect

probably benign
Transcript: ENSMUST00000146513

SMART Domains

Protein: ENSMUSP00000118306
Gene: ENSMUSG00000096914

Domain	Start	End	E-Value	Type
transmembrane domain	13	30	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188531
AA Change: F12L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139677
Gene: ENSMUSG00000096914
AA Change: F12L

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	98	139	2.4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203398
AA Change: F57L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145298
Gene: ENSMUSG00000096914
AA Change: F57L

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204128
AA Change: F57L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145321
Gene: ENSMUSG00000096914
AA Change: F57L

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

Meta Mutation Damage Score

0.0593

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430F08Rik	T	C	10: 100,586,203	T66A	probably damaging	Het
4933406M09Rik	A	C	1: 134,389,975	M162L	probably benign	Het
Acsm3	A	T	7: 119,768,024	R27*	probably null	Het
Actg1	A	G	11: 120,346,949	F255S	probably damaging	Het
Ahdc1	T	A	4: 133,062,951	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,305,390	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,997,495		probably null	Het
Cacnb2	A	G	2: 14,985,706	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,579,143	K398N	probably damaging	Het
Cd79b	G	T	11: 106,312,433	S145R	probably damaging	Het
Cdh11	T	A	8: 102,668,019	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,901,597	D2892G	probably benign	Het
Chuk	A	G	19: 44,103,766		probably benign	Het
Clk3	T	C	9: 57,751,126		probably benign	Het
Dcaf8	A	T	1: 172,172,509	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,183,089	T87A	probably damaging	Het
Ddx50	T	C	10: 62,616,249	N732D	unknown	Het
Dnah5	A	T	15: 28,311,143	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,969,856	V858E	probably damaging	Het
Fer1l4	A	G	2: 156,024,070	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,113,854	I125V	probably benign	Het
Fuca2	C	T	10: 13,506,027	P228L	probably benign	Het
Gigyf2	T	A	1: 87,407,727		probably benign	Het
Gm16505	A	T	13: 3,361,329		noncoding transcript	Het
Gm4781	T	C	10: 100,396,777		noncoding transcript	Het
Gm9956	T	A	10: 56,745,543	Y100*	probably null	Het
Gpr137c	T	A	14: 45,246,349	C178S	probably damaging	Het
Gpr83	A	G	9: 14,868,644	R331G	probably benign	Het
Hlcs	T	A	16: 94,131,852	H851L	probably damaging	Het
Kbtbd6	C	A	14: 79,451,884	Y6*	probably null	Het
Kif23	T	C	9: 61,925,032	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,105,733	T487I	probably damaging	Het
Klra5	A	C	6: 129,908,796	D133E	possibly damaging	Het
Klra6	T	C	6: 130,022,705	E100G	probably damaging	Het
Klre1	T	A	6: 129,585,568		probably benign	Het
Lancl1	C	T	1: 67,009,910		probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Man1b1	A	G	2: 25,338,155	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,874,264		probably benign	Het
Mast3	A	G	8: 70,781,321	S178P	probably damaging	Het
Mau2	A	G	8: 70,023,612		probably null	Het
Mkrn2	A	T	6: 115,614,651	N312Y	probably damaging	Het
Mrvi1	T	C	7: 110,876,900	S615G	probably benign	Het
Myh1	A	G	11: 67,202,533	E150G	probably damaging	Het
Myo7b	T	A	18: 31,961,825		probably null	Het
Nyap1	A	G	5: 137,735,298	V491A	probably damaging	Het
Olfr1284	A	G	2: 111,379,293	M98V	probably damaging	Het
Olfr484	T	C	7: 108,124,734	I176M	probably benign	Het
Olfr518	A	T	7: 108,881,533	N24K	probably damaging	Het
Olfr954	T	C	9: 39,461,532	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893	H385Q	probably damaging	Het
Pbld2	T	C	10: 63,056,811	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,029,305	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,351,541	H266Q	probably damaging	Het
Rbfox2	A	G	15: 77,099,279	S141P	probably benign	Het
Rdx	A	G	9: 52,068,218	T214A	probably benign	Het
Ripor2	A	T	13: 24,680,644	E219V	probably damaging	Het
Rufy2	G	A	10: 63,011,844		probably benign	Het
Slf2	T	A	19: 44,975,726		probably benign	Het
Snrnp200	G	T	2: 127,226,145		probably benign	Het
Snx7	T	A	3: 117,829,671		probably benign	Het
Stt3a	T	C	9: 36,735,512	I602V	probably damaging	Het
Tacr3	G	A	3: 134,855,000		probably null	Het
Tcerg1	C	T	18: 42,571,840	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,788,269	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,365,488	D860G	probably damaging	Het
Try4	T	C	6: 41,304,367	L81P	probably benign	Het
Ucp1	T	C	8: 83,297,847		probably benign	Het
Ugt2b38	G	A	5: 87,420,452	A328V	probably damaging	Het
Wfikkn1	T	A	17: 25,878,017	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,410,632	T875A	probably benign	Het
Zfp11	A	G	5: 129,657,264	S378P	probably damaging	Het
Zfp984	T	A	4: 147,756,232	N54I	probably damaging	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
IGL01700:Galntl6	APN	8	57958460	splice site	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
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
Z1176:Galntl6	UTSW	8	57857558	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCCAAAAGCTTGTGGCATGACTGAG -3'
(R):5'- GGTGGGGTATAGTCAACAAAATCTCCAG -3'

Sequencing Primer
(F):5'- CCCAGTGTGTGAATCTGGC -3'
(R):5'- GGTCAATAGCAATGGTTTTCATCTC -3'

Posted On

2013-09-03