Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01479:Glt8d2'

88552

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Glt8d2

Ensembl Gene

ENSMUSG00000020251

Gene Name

glycosyltransferase 8 domain containing 2

Synonyms

1110021D20Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

IGL01479

Quality Score

Status

Chromosome

Chromosomal Location

82650433-82690650 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 82660736 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 163 (V163I)

Ref Sequence

ENSEMBL: ENSMUSP00000020485 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020485] [ENSMUST00000065815] [ENSMUST00000125505] [ENSMUST00000155529]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000020485
AA Change: V163I

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

SMART Domains

Protein: ENSMUSP00000020485
Gene: ENSMUSG00000020251
AA Change: V163I

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Glyco_transf_8	54	326	3e-47	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000065815
AA Change: V163I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069188
Gene: ENSMUSG00000020251
AA Change: V163I

Domain	Start	End	E-Value	Type
low complexity region	6	25	N/A	INTRINSIC
Pfam:Glyco_transf_8	54	312	2.8e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125505

Predicted Effect

probably benign
Transcript: ENSMUST00000155529

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutant mice show reduced viability and a decreased serum immunoglobulin response to antigen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	C	13: 4,272,935	K225R	probably benign	Het
Amn	C	A	12: 111,271,793	A47E	probably damaging	Het
Arhgef1	T	C	7: 24,912,603	I137T	probably benign	Het
Cep57l1	T	C	10: 41,728,639	K165E	possibly damaging	Het
Chfr	A	G	5: 110,144,993		probably benign	Het
Dnah9	A	G	11: 65,955,717	V2923A	probably benign	Het
Dnaja2	T	C	8: 85,553,951	Y35C	probably damaging	Het
Dnajc2	T	C	5: 21,757,893	T481A	probably damaging	Het
Foxred2	A	G	15: 77,952,289		probably null	Het
Gin1	C	T	1: 97,792,372	T364I	possibly damaging	Het
Gm10118	T	C	10: 63,926,820		probably benign	Het
Hps5	C	T	7: 46,762,942		probably null	Het
Kdm4c	A	G	4: 74,343,501	K638E	probably benign	Het
L3mbtl2	A	G	15: 81,676,392	T285A	probably benign	Het
Mab21l1	A	G	3: 55,783,832	Y280C	probably damaging	Het
Mcoln2	T	A	3: 146,175,652		probably benign	Het
Myo9b	G	T	8: 71,359,342	R1926L	probably damaging	Het
Rrp12	A	G	19: 41,865,202	V1251A	probably benign	Het
Rtn4rl1	A	G	11: 75,265,342	D200G	probably damaging	Het
Sbsn	G	A	7: 30,752,357	A266T	possibly damaging	Het
Sgca	A	T	11: 94,963,378	C335*	probably null	Het
Spag1	T	C	15: 36,233,199		probably benign	Het
Sult6b1	A	T	17: 78,905,576	V82D	probably benign	Het
Tigit	T	C	16: 43,659,522	T137A	probably benign	Het
Tmem125	G	A	4: 118,541,623	Q204*	probably null	Het
Tmem59l	C	T	8: 70,486,098	R111Q	probably benign	Het
Vmn2r95	G	A	17: 18,443,862	G448R	probably damaging	Het
Zfp64	T	C	2: 168,951,679	H49R	probably damaging	Het

Other mutations in Glt8d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00686:Glt8d2	APN	10	82651513	missense	possibly damaging	0.83
IGL00848:Glt8d2	APN	10	82662165	critical splice donor site	probably null
IGL03185:Glt8d2	APN	10	82662276	missense	probably damaging	1.00
vitus	UTSW	10	82664713	missense	possibly damaging	0.54
R0139:Glt8d2	UTSW	10	82660810	missense	probably damaging	1.00
R0255:Glt8d2	UTSW	10	82651527	splice site	probably null
R0464:Glt8d2	UTSW	10	82654730	missense	possibly damaging	0.81
R0483:Glt8d2	UTSW	10	82662153	unclassified	probably benign
R0789:Glt8d2	UTSW	10	82664685	missense	probably damaging	1.00
R1496:Glt8d2	UTSW	10	82659538	missense	probably damaging	0.98
R1930:Glt8d2	UTSW	10	82664642	missense	probably benign	0.00
R3715:Glt8d2	UTSW	10	82652737	missense	probably benign	0.00
R4493:Glt8d2	UTSW	10	82664713	missense	possibly damaging	0.54
R4707:Glt8d2	UTSW	10	82660749	missense	probably damaging	1.00
R4785:Glt8d2	UTSW	10	82660749	missense	probably damaging	1.00
R4886:Glt8d2	UTSW	10	82652040	unclassified	probably benign
R5420:Glt8d2	UTSW	10	82652682	missense	probably benign	0.02
R5485:Glt8d2	UTSW	10	82651448	missense	possibly damaging	0.79
R5859:Glt8d2	UTSW	10	82672081	start codon destroyed	probably null
R6416:Glt8d2	UTSW	10	82652906	missense	probably damaging	1.00
R7527:Glt8d2	UTSW	10	82652569	missense	unknown
R7563:Glt8d2	UTSW	10	82660825	splice site	probably null
R7699:Glt8d2	UTSW	10	82662288	splice site	probably null
R8322:Glt8d2	UTSW	10	82662203	missense	probably damaging	1.00
R8896:Glt8d2	UTSW	10	82654782	missense	probably damaging	0.98

Posted On

2013-11-18