Mutagenetix > Incidental Mutation

Incidental Mutation 'R1494:Glt6d1'

163796

Institutional Source

Beutler Lab

Gene Symbol

Glt6d1

Ensembl Gene

ENSMUSG00000036401

Gene Name

glycosyltransferase 6 domain containing 1

Synonyms

4933411C14Rik

MMRRC Submission

039545-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R1494 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25683871-25705860 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25684260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 249 (Y249H)

Ref Sequence

ENSEMBL: ENSMUSP00000048642 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038010]

AlphaFold

Q2NKH9

Predicted Effect

probably damaging
Transcript: ENSMUST00000038010
AA Change: Y249H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048642
Gene: ENSMUSG00000036401
AA Change: Y249H

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
Pfam:Glyco_transf_6	22	310	6.8e-101	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130316

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143166

Meta Mutation Damage Score

0.2036

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.3%

Validation Efficiency

97% (57/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The GT6 glycosyltransferases gene family, which includes the ABO blood group (ABO; MIM 110300) and GLT6D1, shows a complex evolution pattern, with multiple events of gain and loss in different mammal species. In humans, the ABO gene is considered the sole functional member, although the O allele is null and is fixed in certain populations (summary by Casals et al. (2009) [PubMed 19218399]).[supplied by OMIM, Jan 2011]

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	G	17: 48,400,991 (GRCm39)	E92G	probably benign	Het
Abca13	C	T	11: 9,416,429 (GRCm39)	Q4064*	probably null	Het
Abca14	G	A	7: 119,815,524 (GRCm39)	M257I	probably benign	Het
Acsm2	T	A	7: 119,174,855 (GRCm39)	C207S	probably damaging	Het
Actr3	A	G	1: 125,344,018 (GRCm39)	I67T	probably benign	Het
Adcy7	T	C	8: 89,046,835 (GRCm39)	V606A	probably benign	Het
Ahnak2	G	A	12: 112,751,570 (GRCm39)	S54F	probably damaging	Het
Ano6	T	C	15: 95,870,388 (GRCm39)	S848P	probably damaging	Het
Atg3	C	T	16: 44,992,123 (GRCm39)		probably benign	Het
Atp8b1	T	A	18: 64,697,597 (GRCm39)	S416C	probably damaging	Het
C2cd5	A	G	6: 142,987,072 (GRCm39)		probably benign	Het
Capn11	A	T	17: 45,954,735 (GRCm39)	V134E	probably damaging	Het
Ccnd3	A	G	17: 47,909,033 (GRCm39)		probably null	Het
Chaf1b	T	A	16: 93,684,998 (GRCm39)	V149E	probably damaging	Het
Col5a2	T	A	1: 45,542,074 (GRCm39)	M1L	unknown	Het
Copa	T	C	1: 171,931,694 (GRCm39)	I315T	probably benign	Het
Cyp3a57	A	G	5: 145,318,077 (GRCm39)	M353V	probably damaging	Het
Dcaf6	T	C	1: 165,160,942 (GRCm39)	M828V	probably damaging	Het
Dock2	T	A	11: 34,232,761 (GRCm39)	K1080*	probably null	Het
Dock6	A	G	9: 21,726,038 (GRCm39)	V1424A	probably benign	Het
Foxa1	T	C	12: 57,588,984 (GRCm39)	D412G	probably damaging	Het
Foxp4	G	C	17: 48,191,278 (GRCm39)		probably benign	Het
Galnt9	T	A	5: 110,736,196 (GRCm39)	S171T	probably damaging	Het
Gm37240	A	T	3: 84,434,998 (GRCm39)	Y104N	probably damaging	Het
Gpx8	C	T	13: 113,182,149 (GRCm39)	E95K	possibly damaging	Het
Grm1	T	C	10: 10,565,450 (GRCm39)	T953A	probably benign	Het
Helz	T	C	11: 107,494,889 (GRCm39)		probably benign	Het
Hif3a	T	C	7: 16,788,647 (GRCm39)	Y108C	probably damaging	Het
Kcnj13	A	T	1: 87,316,939 (GRCm39)	L58Q	probably damaging	Het
Mfsd14b	A	T	13: 65,243,485 (GRCm39)	V53D	probably damaging	Het
Mrps7	G	C	11: 115,494,952 (GRCm39)		probably benign	Het
Mug1	G	A	6: 121,856,259 (GRCm39)	G1013D	probably damaging	Het
Or52h7	T	A	7: 104,214,038 (GRCm39)	Y203*	probably null	Het
Or6c8	A	T	10: 128,915,484 (GRCm39)	M116K	probably damaging	Het
Pax6	T	C	2: 105,521,955 (GRCm39)	I19T	probably benign	Het
Pde8b	G	A	13: 95,184,304 (GRCm39)	R416C	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Pygl	G	A	12: 70,246,504 (GRCm39)	R348W	probably damaging	Het
Ralgapa1	T	A	12: 55,731,309 (GRCm39)	D1874V	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sncaip	T	C	18: 53,001,958 (GRCm39)	S160P	probably damaging	Het
Sptbn4	A	G	7: 27,133,719 (GRCm39)	V79A	probably damaging	Het
Sptlc3	A	T	2: 139,431,480 (GRCm39)	Y334F	possibly damaging	Het
Supt16	A	G	14: 52,409,916 (GRCm39)	Y764H	probably benign	Het
Syne3	A	T	12: 104,921,841 (GRCm39)	V438E	possibly damaging	Het
Tagap1	T	C	17: 7,224,210 (GRCm39)	D162G	probably damaging	Het
Terb1	T	C	8: 105,225,122 (GRCm39)		probably benign	Het
Themis3	C	A	17: 66,866,949 (GRCm39)	R97L	probably benign	Het
Tnk1	T	A	11: 69,747,372 (GRCm39)	E86D	possibly damaging	Het
Tnpo3	A	G	6: 29,557,043 (GRCm39)	L53P	probably damaging	Het
Trpc6	G	A	9: 8,658,305 (GRCm39)	R725K	probably benign	Het
Ttll11	T	G	2: 35,685,391 (GRCm39)	T566P	probably damaging	Het
Unc5c	A	T	3: 141,533,310 (GRCm39)	T779S	possibly damaging	Het
Zfp42	A	G	8: 43,748,638 (GRCm39)	C288R	possibly damaging	Het
Zfp763	G	A	17: 33,240,477 (GRCm39)	T52I	probably damaging	Het

Other mutations in Glt6d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Glt6d1	APN	2	25,701,041 (GRCm39)	missense	probably damaging	1.00
IGL01722:Glt6d1	APN	2	25,684,431 (GRCm39)	missense	probably benign	0.02
IGL01734:Glt6d1	APN	2	25,684,505 (GRCm39)	missense	probably benign	0.01
R0010:Glt6d1	UTSW	2	25,684,739 (GRCm39)	critical splice acceptor site	probably null
R0010:Glt6d1	UTSW	2	25,684,739 (GRCm39)	critical splice acceptor site	probably null
R0039:Glt6d1	UTSW	2	25,684,739 (GRCm39)	critical splice acceptor site	probably null
R0079:Glt6d1	UTSW	2	25,684,739 (GRCm39)	critical splice acceptor site	probably null
R0082:Glt6d1	UTSW	2	25,684,739 (GRCm39)	critical splice acceptor site	probably null
R0197:Glt6d1	UTSW	2	25,684,082 (GRCm39)	missense	probably benign
R0432:Glt6d1	UTSW	2	25,684,739 (GRCm39)	critical splice acceptor site	probably null
R0525:Glt6d1	UTSW	2	25,684,280 (GRCm39)	missense	possibly damaging	0.96
R1959:Glt6d1	UTSW	2	25,684,425 (GRCm39)	missense	probably damaging	1.00
R3720:Glt6d1	UTSW	2	25,685,179 (GRCm39)	frame shift	probably null
R4074:Glt6d1	UTSW	2	25,684,139 (GRCm39)	missense	probably damaging	1.00
R5664:Glt6d1	UTSW	2	25,704,192 (GRCm39)	missense	probably benign	0.03
R7075:Glt6d1	UTSW	2	25,685,292 (GRCm39)	missense	probably benign	0.00
R7576:Glt6d1	UTSW	2	25,704,134 (GRCm39)	missense	probably benign	0.39
R9674:Glt6d1	UTSW	2	25,684,382 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGACAAACCACACATGCCGAGGG -3'
(R):5'- TGAGCACATCCGGGATCACATCAG -3'

Sequencing Primer
(F):5'- CATGCCGAGGGAGGTTG -3'
(R):5'- CAACATGGTCTTCCAAAGTGAG -3'

Posted On

2014-03-28