Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02339:Glt8d1'

288995

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Glt8d1

Ensembl Gene

ENSMUSG00000021916

Gene Name

glycosyltransferase 8 domain containing 1

Synonyms

5430414N14Rik, 2410004H05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02339

Quality Score

Status

Chromosome

Chromosomal Location

30723357-30733948 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 30730767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 91 (T91K)

Ref Sequence

ENSEMBL: ENSMUSP00000129323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022476] [ENSMUST00000037739] [ENSMUST00000168584] [ENSMUST00000226378] [ENSMUST00000226740]

AlphaFold

Q6NSU3

Predicted Effect

probably damaging
Transcript: ENSMUST00000022476
AA Change: T91K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022476
Gene: ENSMUSG00000021916
AA Change: T91K

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
Pfam:Glyco_transf_8	67	340	1.7e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000037739

SMART Domains

Protein: ENSMUSP00000047119
Gene: ENSMUSG00000042354

Domain	Start	End	E-Value	Type
Pfam:GN3L_Grn1	16	90	4.3e-25	PFAM
low complexity region	112	126	N/A	INTRINSIC
SCOP:d1egaa1	130	207	3e-3	SMART
low complexity region	209	220	N/A	INTRINSIC
Pfam:MMR_HSR1	251	362	2.3e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000168584
AA Change: T91K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000129323
Gene: ENSMUSG00000021916
AA Change: T91K

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
Pfam:Glyco_transf_8	67	340	8.6e-55	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226271

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226348

Predicted Effect

probably benign
Transcript: ENSMUST00000226378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228914

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226959

Predicted Effect

probably benign
Transcript: ENSMUST00000226379

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227783

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228255

Predicted Effect

probably benign
Transcript: ENSMUST00000226740

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228713

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the glycosyltransferase family. The encoded protein is a type II transmembrane protein containing a glycosyltransferase 8 domain in the lumenal (C-terminal) portion. The specific function of this protein has not been determined. Two alternatively spliced variants encoding the same isoform have been described. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a disruption in this gene display exhibited impaired sensorimotor gating/attention during prepulse inhibition testing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	C	A	6: 23,093,965 (GRCm39)	V119F	probably damaging	Het
Abcg5	T	C	17: 84,981,032 (GRCm39)	I186V	possibly damaging	Het
B4gat1	G	A	19: 5,089,446 (GRCm39)	E148K	probably benign	Het
Ccr6	A	T	17: 8,475,085 (GRCm39)	T97S	probably benign	Het
Cd209f	A	C	8: 4,154,483 (GRCm39)		probably null	Het
Chst1	T	A	2: 92,443,922 (GRCm39)	D131E	possibly damaging	Het
Dennd4a	C	T	9: 64,749,843 (GRCm39)	R145*	probably null	Het
Dnaaf9	A	G	2: 130,581,385 (GRCm39)	S546P	probably damaging	Het
Dnah6	A	G	6: 73,078,881 (GRCm39)	Y2361H	probably benign	Het
Dpp6	C	T	5: 27,857,228 (GRCm39)	T333I	probably damaging	Het
Gm4952	G	A	19: 12,604,275 (GRCm39)	R229Q	probably damaging	Het
Gm5117	T	C	8: 32,228,254 (GRCm39)		noncoding transcript	Het
Gp5	T	C	16: 30,128,008 (GRCm39)	E222G	probably damaging	Het
Herc2	T	A	7: 55,771,470 (GRCm39)	D1077E	probably benign	Het
Hfe	T	C	13: 23,888,373 (GRCm39)	E171G	probably damaging	Het
Hsp90b1	A	G	10: 86,537,678 (GRCm39)	V209A	probably damaging	Het
Ktn1	A	T	14: 47,920,835 (GRCm39)		probably benign	Het
Med13	T	C	11: 86,179,765 (GRCm39)	I1394M	probably benign	Het
Meioc	T	G	11: 102,559,274 (GRCm39)	S65R	probably benign	Het
Myof	T	C	19: 37,960,661 (GRCm39)	Y460C	possibly damaging	Het
Or4f53	A	T	2: 111,087,588 (GRCm39)	T43S	probably benign	Het
Pms1	A	G	1: 53,314,324 (GRCm39)	Y74H	possibly damaging	Het
Ptprn2	A	C	12: 116,685,724 (GRCm39)	Q61P	probably damaging	Het
Rab29	A	G	1: 131,799,880 (GRCm39)	T152A	probably benign	Het
Rest	A	G	5: 77,423,135 (GRCm39)	H313R	probably damaging	Het
Slc9a5	T	C	8: 106,085,091 (GRCm39)	Y531H	probably damaging	Het
St3gal3	T	C	4: 117,815,759 (GRCm39)	T148A	probably damaging	Het
Stxbp5	C	T	10: 9,692,041 (GRCm39)	V368I	possibly damaging	Het
Taf1c	T	C	8: 120,331,019 (GRCm39)	D33G	probably damaging	Het
Trim38	G	A	13: 23,972,213 (GRCm39)	R178Q	probably damaging	Het
Uvssa	A	T	5: 33,572,193 (GRCm39)	K704N	probably damaging	Het
Vmn1r69	G	A	7: 10,314,645 (GRCm39)	Q29*	probably null	Het
Ypel2	T	C	11: 86,831,429 (GRCm39)	D119G	possibly damaging	Het

Other mutations in Glt8d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03087:Glt8d1	APN	14	30,732,053 (GRCm39)	missense	probably damaging	1.00
R0494:Glt8d1	UTSW	14	30,733,580 (GRCm39)	missense	possibly damaging	0.87
R0531:Glt8d1	UTSW	14	30,728,461 (GRCm39)	missense	probably benign	0.00
R0594:Glt8d1	UTSW	14	30,732,367 (GRCm39)	critical splice donor site	probably null
R1540:Glt8d1	UTSW	14	30,733,549 (GRCm39)	missense	probably benign	0.00
R1715:Glt8d1	UTSW	14	30,733,478 (GRCm39)	missense	possibly damaging	0.95
R2055:Glt8d1	UTSW	14	30,731,693 (GRCm39)	missense	probably benign	0.00
R3081:Glt8d1	UTSW	14	30,728,617 (GRCm39)	missense	probably benign
R4676:Glt8d1	UTSW	14	30,728,649 (GRCm39)	missense	probably benign
R7143:Glt8d1	UTSW	14	30,728,602 (GRCm39)	missense	probably damaging	0.97
R7733:Glt8d1	UTSW	14	30,723,935 (GRCm39)	unclassified	probably benign
R7839:Glt8d1	UTSW	14	30,723,788 (GRCm39)	unclassified	probably benign
R7871:Glt8d1	UTSW	14	30,732,296 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16