Mutagenetix > Incidental Mutations

Incidental Mutation 'R0432:Glt6d1'

38803

Institutional Source

Beutler Lab

Gene Symbol

Glt6d1

Ensembl Gene

ENSMUSG00000036401

Gene Name

glycosyltransferase 6 domain containing 1

Synonyms

4933411C14Rik

MMRRC Submission

038634-MU

Accession Numbers

Ncbi RefSeq: NM_001039095.1; MGI:1918353

Is this an essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R0432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25793859-25815848 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

C to A at 25794727 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000048642 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000038010

SMART Domains

Protein: ENSMUSP00000048642
Gene: ENSMUSG00000036401

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

probably null
Transcript: ENSMUST00000038010

SMART Domains

Protein: ENSMUSP00000048642
Gene: ENSMUSG00000036401

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

0.9316

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

99% (91/92)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	G	17: 35,895,816	L110P	probably damaging	Het
4930522L14Rik	A	T	5: 109,736,919	C358S	probably damaging	Het
9330182L06Rik	G	T	5: 9,440,966	G659*	probably null	Het
Abca8b	C	A	11: 109,980,015	V104F	possibly damaging	Het
Afap1l2	T	C	19: 56,917,119		probably benign	Het
Ahctf1	A	C	1: 179,784,161	I548R	probably damaging	Het
Alox12b	G	T	11: 69,169,556	G646V	probably damaging	Het
Aoah	C	T	13: 20,911,198		probably benign	Het
Arhgap39	C	T	15: 76,734,886	D833N	probably damaging	Het
Atxn1l	A	G	8: 109,731,693	W646R	probably damaging	Het
Cabp2	T	C	19: 4,084,903	I28T	possibly damaging	Het
Cacna1b	G	A	2: 24,687,704	T719I	probably damaging	Het
Camk1d	A	T	2: 5,445,135	H70Q	probably damaging	Het
Car1	T	C	3: 14,770,176	T170A	probably benign	Het
Ccdc162	T	C	10: 41,541,860	T2113A	probably benign	Het
Cdc5l	G	A	17: 45,415,684	R321W	probably damaging	Het
Cdh17	T	A	4: 11,771,273	C18*	probably null	Het
Cdk17	A	T	10: 93,237,790		probably benign	Het
Chd9	T	A	8: 90,994,450		probably benign	Het
Chrm5	T	A	2: 112,479,655	K372M	possibly damaging	Het
Clasp2	A	G	9: 113,909,419	T423A	probably benign	Het
Col11a1	A	G	3: 114,205,901		probably benign	Het
Col27a1	T	C	4: 63,225,611	M512T	possibly damaging	Het
Dclk3	A	G	9: 111,484,935	D693G	probably damaging	Het
Dcun1d3	T	A	7: 119,857,950	K180*	probably null	Het
Dmxl2	T	C	9: 54,416,951	R876G	probably benign	Het
Dnmbp	A	T	19: 43,854,857	Y432*	probably null	Het
Eml2	C	T	7: 19,179,531	Q125*	probably null	Het
Faap100	A	C	11: 120,373,876		probably benign	Het
Foxp2	T	C	6: 15,254,279		probably benign	Het
Gda	A	G	19: 21,417,107	Y129H	probably damaging	Het
Gga3	G	A	11: 115,590,524	R207C	probably damaging	Het
Glg1	T	C	8: 111,182,569	I496M	probably damaging	Het
Gm10322	A	T	10: 59,616,208	H49L	possibly damaging	Het
Golga5	G	T	12: 102,476,208	V269F	possibly damaging	Het
Gramd3	G	A	18: 56,474,069	C85Y	probably benign	Het
Grhl1	C	T	12: 24,582,919	P153L	probably benign	Het
Hdac9	T	C	12: 34,437,222	Q60R	probably damaging	Het
Hdlbp	T	C	1: 93,425,332	I414V	probably damaging	Het
Itpk1	C	T	12: 102,606,078		probably benign	Het
Itsn1	T	A	16: 91,815,520	Y266N	probably damaging	Het
Lipe	G	A	7: 25,398,488	P10L	probably benign	Het
Lrrc8a	A	G	2: 30,257,067	E631G	probably damaging	Het
Lvrn	T	A	18: 46,905,299	N973K	possibly damaging	Het
Man2c1	T	A	9: 57,135,597	H250Q	probably damaging	Het
Mup3	T	C	4: 62,085,282	T117A	probably benign	Het
Myo6	A	C	9: 80,273,974		probably benign	Het
Nbn	T	A	4: 15,983,951		probably benign	Het
Ncapg	T	A	5: 45,672,428	N157K	probably damaging	Het
Olfr1024	T	A	2: 85,904,157	N299I	probably damaging	Het
Olfr1137	G	A	2: 87,711,430	H159Y	probably benign	Het
Olfr1154	T	C	2: 87,902,960	T239A	probably damaging	Het
Olfr1178	C	T	2: 88,392,033	T262I	probably damaging	Het
Olfr1434	T	A	19: 12,283,903	M285K	probably damaging	Het
P4ha1	T	A	10: 59,348,257	Y180*	probably null	Het
Pcdhb19	T	A	18: 37,499,535	F794L	probably benign	Het
Pdxdc1	T	A	16: 13,854,400	I379F	probably damaging	Het
Psme3	T	A	11: 101,320,442	S185T	possibly damaging	Het
Ptgr1	A	G	4: 58,978,045	S116P	probably damaging	Het
Ptpn23	A	T	9: 110,389,010		probably null	Het
Rabgap1l	A	C	1: 160,722,205	I277R	probably benign	Het
Rapgef1	C	T	2: 29,679,816	T93I	possibly damaging	Het
Rbp3	A	T	14: 33,954,773	D226V	probably damaging	Het
Rnf144a	A	T	12: 26,339,329	C38S	probably damaging	Het
Rptor	C	T	11: 119,780,553	Q281*	probably null	Het
Rragd	T	C	4: 33,004,332	L208S	probably damaging	Het
Slc12a4	T	C	8: 105,959,488	E41G	probably damaging	Het
Slc16a1	G	T	3: 104,653,419	V347F	probably benign	Het
Slit1	G	A	19: 41,743,293	T39I	probably damaging	Het
Sra1	T	C	18: 36,677,503	N98S	probably benign	Het
Ssx2ip	T	C	3: 146,426,429	L215P	probably damaging	Het
Syne2	A	T	12: 75,949,064	H2126L	probably damaging	Het
Tep1	TTTCTTCTTCTT	TTTCTTCTT	14: 50,866,823		probably benign	Het
Tgfbi	T	C	13: 56,632,191		probably benign	Het
Tmem232	T	C	17: 65,256,503	M632V	probably damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Tnnt3	T	G	7: 142,512,086	D153E	probably benign	Het
Tnrc6b	T	A	15: 80,923,446		probably benign	Het
Tpsab1	A	G	17: 25,343,824		probably benign	Het
Usp34	T	A	11: 23,401,505	V1431D	probably damaging	Het
Wdr49	G	T	3: 75,450,022	R285S	possibly damaging	Het
Wdr7	A	G	18: 63,796,249	Y1052C	probably damaging	Het
Zan	A	T	5: 137,382,316		probably benign	Het
Zfp652	G	A	11: 95,763,739	V323I	possibly damaging	Het
Zfp740	A	G	15: 102,212,659	T136A	possibly damaging	Het
Zfp82	C	T	7: 30,056,329	E443K	probably damaging	Het
Zfp874b	A	G	13: 67,481,836	S10P	probably damaging	Het
Zmynd19	A	G	2: 24,958,122	Y110C	probably benign	Het

Other mutations in Glt6d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Glt6d1	APN	2	25811029	missense	probably damaging	1.00
IGL01722:Glt6d1	APN	2	25794419	missense	probably benign	0.02
IGL01734:Glt6d1	APN	2	25794493	missense	probably benign	0.01
R0010:Glt6d1	UTSW	2	25794727	critical splice acceptor site	probably null
R0010:Glt6d1	UTSW	2	25794727	critical splice acceptor site	probably null
R0039:Glt6d1	UTSW	2	25794727	critical splice acceptor site	probably null
R0079:Glt6d1	UTSW	2	25794727	critical splice acceptor site	probably null
R0082:Glt6d1	UTSW	2	25794727	critical splice acceptor site	probably null
R0197:Glt6d1	UTSW	2	25794070	missense	probably benign
R0525:Glt6d1	UTSW	2	25794268	missense	possibly damaging	0.96
R1494:Glt6d1	UTSW	2	25794248	missense	probably damaging	1.00
R1959:Glt6d1	UTSW	2	25794413	missense	probably damaging	1.00
R3720:Glt6d1	UTSW	2	25795167	frame shift	probably null
R4074:Glt6d1	UTSW	2	25794127	missense	probably damaging	1.00
R5664:Glt6d1	UTSW	2	25814180	missense	probably benign	0.03
R7075:Glt6d1	UTSW	2	25795280	missense	probably benign	0.00
R7576:Glt6d1	UTSW	2	25814122	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- AGGTCAAAGTTGCTCCACCACCTC -3'
(R):5'- GCCACGATAAGTCCCTGTACCAAG -3'

Sequencing Primer
(F):5'- ACCTCTCCTTGCCTATTTTGAG -3'
(R):5'- AGCTCTGACTCAGTAGTTCTAACG -3'

Posted On

2013-05-23