Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02028:Glt1d1'

184279

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Glt1d1

Ensembl Gene

ENSMUSG00000049971

Gene Name

glycosyltransferase 1 domain containing 1

Synonyms

5730455A04Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02028

Quality Score

Status

Chromosome

Chromosomal Location

127709326-127786438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 127783984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 313 (V313M)

Ref Sequence

ENSEMBL: ENSMUSP00000113864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118139]

AlphaFold

A4FUP9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118139
AA Change: V313M

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113864
Gene: ENSMUSG00000049971
AA Change: V313M

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_1	153	319	8.2e-23	PFAM
Pfam:Glyco_trans_1_4	166	305	8.7e-15	PFAM
Pfam:Glyco_trans_1_2	244	335	8.6e-12	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	A	G	1: 60,473,442 (GRCm39)	Y53C	probably damaging	Het
Acacb	T	A	5: 114,304,076 (GRCm39)	D166E	probably damaging	Het
Akap8l	T	C	17: 32,557,495 (GRCm39)		probably null	Het
Arl6ip5	A	G	6: 97,206,611 (GRCm39)	Y97C	probably damaging	Het
Atad5	T	A	11: 80,024,936 (GRCm39)	S1772R	probably benign	Het
Ccdc106	A	G	7: 5,062,645 (GRCm39)	Q155R	probably damaging	Het
Ccdc33	T	C	9: 57,983,861 (GRCm39)	N446S	probably benign	Het
Cdh2	T	C	18: 16,783,477 (GRCm39)	D84G	probably benign	Het
Cntn6	A	G	6: 104,836,387 (GRCm39)	K918E	probably damaging	Het
Dock6	T	C	9: 21,750,122 (GRCm39)	D521G	probably damaging	Het
Dync2i1	C	A	12: 116,219,681 (GRCm39)	R87L	probably benign	Het
Etv6	C	T	6: 134,225,696 (GRCm39)	A309V	probably benign	Het
Ezh1	G	T	11: 101,090,166 (GRCm39)	H529Q	probably damaging	Het
Figla	T	C	6: 85,994,345 (GRCm39)	L40P	probably damaging	Het
Gabra4	T	A	5: 71,790,939 (GRCm39)	Q301L	probably damaging	Het
Gm28778	T	A	1: 53,357,120 (GRCm39)	I94K	possibly damaging	Het
Gm4847	T	C	1: 166,469,765 (GRCm39)	K103E	probably benign	Het
Gne	A	G	4: 44,066,852 (GRCm39)	S23P	probably damaging	Het
Hipk2	A	G	6: 38,795,691 (GRCm39)	C186R	possibly damaging	Het
Lrp1b	C	T	2: 41,401,464 (GRCm39)	V283I	probably damaging	Het
Mcm10	A	T	2: 5,013,511 (GRCm39)	D40E	possibly damaging	Het
Morc2b	T	A	17: 33,356,387 (GRCm39)	I462F	possibly damaging	Het
Myh1	T	A	11: 67,101,441 (GRCm39)	I711N	probably damaging	Het
Oit3	A	G	10: 59,274,477 (GRCm39)	F108L	probably damaging	Het
Or4f4b	T	C	2: 111,313,816 (GRCm39)	F14L	probably benign	Het
Or8b49	T	A	9: 38,505,715 (GRCm39)	L66*	probably null	Het
Polr1g	T	C	7: 19,091,003 (GRCm39)	K368R	probably damaging	Het
Rbm19	A	G	5: 120,258,301 (GRCm39)	D172G	probably damaging	Het
Ribc2	A	G	15: 85,027,536 (GRCm39)	D339G	possibly damaging	Het
Rras2	C	A	7: 113,659,597 (GRCm39)	V56L	probably benign	Het
Scn2a	A	G	2: 65,594,002 (GRCm39)	E1617G	probably damaging	Het
Slc13a1	T	A	6: 24,118,030 (GRCm39)	M236L	probably benign	Het
Snrnp27	C	T	6: 86,659,955 (GRCm39)	R13H	unknown	Het
Srgap2	T	C	1: 131,224,173 (GRCm39)	K92E	probably damaging	Het
Suco	T	C	1: 161,684,428 (GRCm39)	K231E	possibly damaging	Het
Tll2	C	A	19: 41,087,088 (GRCm39)	E588*	probably null	Het
Tmem215	A	T	4: 40,473,940 (GRCm39)	I6L	possibly damaging	Het
Tnc	A	C	4: 63,884,909 (GRCm39)		probably benign	Het
Tob1	G	A	11: 94,105,052 (GRCm39)	G196D	probably benign	Het
Ubtfl1	T	A	9: 18,320,849 (GRCm39)	Y126N	possibly damaging	Het
Uck1	G	T	2: 32,148,149 (GRCm39)	Q192K	probably damaging	Het
Vdac3-ps1	A	G	13: 18,205,469 (GRCm39)		noncoding transcript	Het
Vmn1r88	C	T	7: 12,911,719 (GRCm39)	S25L	probably benign	Het
Vmn2r109	T	G	17: 20,761,342 (GRCm39)	I672L	probably benign	Het
Vmn2r23	T	C	6: 123,718,819 (GRCm39)	F724S	probably damaging	Het
Vmn2r54	A	T	7: 12,366,088 (GRCm39)	F282Y	probably damaging	Het
Vmn2r82	A	T	10: 79,215,057 (GRCm39)	I347F	probably benign	Het
Wasf2	G	A	4: 132,923,112 (GRCm39)	R474H	probably damaging	Het
Zmym5	T	C	14: 57,041,617 (GRCm39)	H162R	possibly damaging	Het

Other mutations in Glt1d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Glt1d1	APN	5	127,709,349 (GRCm39)	start codon destroyed	probably null	1.00
IGL01310:Glt1d1	APN	5	127,709,384 (GRCm39)	missense	possibly damaging	0.86
IGL01608:Glt1d1	APN	5	127,741,746 (GRCm39)	missense	possibly damaging	0.56
IGL01738:Glt1d1	APN	5	127,709,419 (GRCm39)	intron	probably benign
IGL02273:Glt1d1	APN	5	127,734,208 (GRCm39)	splice site	probably benign
IGL02603:Glt1d1	APN	5	127,709,409 (GRCm39)	missense	probably damaging	1.00
IGL02718:Glt1d1	APN	5	127,727,763 (GRCm39)	missense	probably damaging	0.98
IGL02850:Glt1d1	APN	5	127,721,409 (GRCm39)	missense	probably benign	0.00
IGL03328:Glt1d1	APN	5	127,734,183 (GRCm39)	missense	probably benign
R0049:Glt1d1	UTSW	5	127,740,391 (GRCm39)	splice site	probably benign
R0312:Glt1d1	UTSW	5	127,768,134 (GRCm39)	missense	probably damaging	1.00
R0400:Glt1d1	UTSW	5	127,734,139 (GRCm39)	splice site	probably benign
R1838:Glt1d1	UTSW	5	127,755,193 (GRCm39)	missense	probably benign	0.01
R2060:Glt1d1	UTSW	5	127,734,183 (GRCm39)	missense	probably benign
R2262:Glt1d1	UTSW	5	127,734,176 (GRCm39)	missense	probably benign	0.08
R3776:Glt1d1	UTSW	5	127,771,375 (GRCm39)	missense	probably damaging	1.00
R4205:Glt1d1	UTSW	5	127,766,935 (GRCm39)	missense	probably benign	0.32
R4249:Glt1d1	UTSW	5	127,768,176 (GRCm39)	critical splice donor site	probably null
R4379:Glt1d1	UTSW	5	127,771,346 (GRCm39)	missense	possibly damaging	0.73
R5044:Glt1d1	UTSW	5	127,721,478 (GRCm39)	missense	probably benign	0.38
R5289:Glt1d1	UTSW	5	127,721,420 (GRCm39)	missense	probably benign	0.11
R5374:Glt1d1	UTSW	5	127,734,148 (GRCm39)	splice site	probably null
R5533:Glt1d1	UTSW	5	127,768,095 (GRCm39)	missense	probably damaging	1.00
R5592:Glt1d1	UTSW	5	127,734,183 (GRCm39)	missense	probably benign	0.01
R5870:Glt1d1	UTSW	5	127,754,344 (GRCm39)	missense	probably damaging	1.00
R5942:Glt1d1	UTSW	5	127,721,534 (GRCm39)	splice site	probably null
R6128:Glt1d1	UTSW	5	127,754,335 (GRCm39)	missense	probably damaging	1.00
R6349:Glt1d1	UTSW	5	127,783,950 (GRCm39)	missense	probably benign	0.10
R6490:Glt1d1	UTSW	5	127,721,360 (GRCm39)	splice site	probably null
R6502:Glt1d1	UTSW	5	127,784,045 (GRCm39)	missense	probably damaging	1.00
R8205:Glt1d1	UTSW	5	127,768,080 (GRCm39)	missense	probably benign	0.05
R9231:Glt1d1	UTSW	5	127,754,341 (GRCm39)	missense	probably damaging	1.00
R9699:Glt1d1	UTSW	5	127,771,364 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07