Mutagenetix > Incidental Mutation

Incidental Mutation 'R7733:Glt8d1'

596015

Institutional Source

Beutler Lab

Gene Symbol

Glt8d1

Ensembl Gene

ENSMUSG00000021916

Gene Name

glycosyltransferase 8 domain containing 1

Synonyms

5430414N14Rik, 2410004H05Rik

MMRRC Submission

045789-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7733 (G1)

Quality Score

113.009

Status

Validated

Chromosome

Chromosomal Location

30723357-30733948 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 30723935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154167 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022476] [ENSMUST00000168584] [ENSMUST00000186131] [ENSMUST00000226374] [ENSMUST00000226378] [ENSMUST00000226782] [ENSMUST00000228736] [ENSMUST00000228767]

AlphaFold

Q6NSU3

Predicted Effect

probably benign
Transcript: ENSMUST00000022476

SMART Domains

Protein: ENSMUSP00000022476
Gene: ENSMUSG00000021916

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: ENSMUST00000168584

SMART Domains

Protein: ENSMUSP00000129323
Gene: ENSMUSG00000021916

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

probably benign
Transcript: ENSMUST00000186131

SMART Domains

Protein: ENSMUSP00000139654
Gene: ENSMUSG00000021917

Domain	Start	End	E-Value	Type
Pfam:SPC12	71	149	2.1e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226374

Predicted Effect

probably benign
Transcript: ENSMUST00000226378

Predicted Effect

probably benign
Transcript: ENSMUST00000226782

Predicted Effect

probably benign
Transcript: ENSMUST00000228736

Predicted Effect

probably benign
Transcript: ENSMUST00000228767

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

100% (83/83)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	T	A	6: 133,271,240 (GRCm39)	S95T	probably benign	Het
Abca8a	A	G	11: 109,945,413 (GRCm39)	F1070L	probably benign	Het
Acsl3	G	C	1: 78,665,953 (GRCm39)		probably null	Het
Adarb2	T	A	13: 8,802,644 (GRCm39)	S640T	possibly damaging	Het
Adgre5	T	C	8: 84,456,025 (GRCm39)	D257G	probably benign	Het
Adora2b	A	T	11: 62,156,165 (GRCm39)	I205F	possibly damaging	Het
Asb14	A	G	14: 26,634,309 (GRCm39)	M505V	probably benign	Het
Atrnl1	T	C	19: 57,690,420 (GRCm39)	V876A	probably benign	Het
AU040320	A	G	4: 126,729,322 (GRCm39)	N495D	possibly damaging	Het
Bcam	A	T	7: 19,494,313 (GRCm39)	V361E	probably benign	Het
Ccdc7a	T	A	8: 129,719,533 (GRCm39)	E247V	probably damaging	Het
Cd84	T	A	1: 171,668,226 (GRCm39)	M1K	probably null	Het
Cfap43	C	T	19: 47,886,432 (GRCm39)	R61H	possibly damaging	Het
Clec4a1	A	G	6: 122,909,109 (GRCm39)	D159G	possibly damaging	Het
Ctcfl	C	T	2: 172,958,985 (GRCm39)	R247Q	probably benign	Het
Ctdnep1	G	A	11: 69,880,835 (GRCm39)	R236Q	probably damaging	Het
Cwf19l2	A	T	9: 3,450,066 (GRCm39)	H589L	probably benign	Het
Cyp2u1	G	T	3: 131,096,676 (GRCm39)	A34E	probably benign	Het
Cyp4x1	A	G	4: 114,977,391 (GRCm39)	S281P	possibly damaging	Het
Dag1	T	C	9: 108,086,047 (GRCm39)	T365A	probably benign	Het
Dhx57	A	T	17: 80,572,503 (GRCm39)		probably null	Het
Dnajb1	T	G	8: 84,335,006 (GRCm39)	S16A	probably benign	Het
Dsc2	A	T	18: 20,181,372 (GRCm39)	L145Q	probably benign	Het
Dsc2	G	C	18: 20,181,373 (GRCm39)	L145V	probably benign	Het
Eefsec	T	C	6: 88,353,202 (GRCm39)	T156A	possibly damaging	Het
Eif6	T	A	2: 155,665,152 (GRCm39)	D169V	probably benign	Het
Ell3	C	A	2: 121,273,001 (GRCm39)	G3V	possibly damaging	Het
Eprs1	A	T	1: 185,129,358 (GRCm39)	H615L	probably benign	Het
Fbxw10	A	G	11: 62,764,223 (GRCm39)	Y630C	unknown	Het
Fcgbpl1	A	T	7: 27,839,390 (GRCm39)	D401V	probably damaging	Het
G6pc2	C	T	2: 69,050,527 (GRCm39)	Q51*	probably null	Het
Gpr4	T	C	7: 18,956,635 (GRCm39)	Y186H	probably damaging	Het
Grhpr	T	C	4: 44,981,494 (GRCm39)		probably benign	Het
Gsdma3	A	G	11: 98,526,041 (GRCm39)	H264R	probably damaging	Het
Hcfc2	A	G	10: 82,575,013 (GRCm39)	Y224C	probably benign	Het
Helz2	A	G	2: 180,872,148 (GRCm39)	F2608S	possibly damaging	Het
Herc2	C	T	7: 55,838,412 (GRCm39)	T3313M	probably damaging	Het
Hmgcl	A	T	4: 135,687,394 (GRCm39)	H223L	probably benign	Het
Igf2r	A	G	17: 12,958,256 (GRCm39)	V139A	possibly damaging	Het
Iqcn	A	G	8: 71,170,100 (GRCm39)	T1397A	possibly damaging	Het
Kif5a	T	A	10: 127,072,609 (GRCm39)	T727S	probably benign	Het
Kifc1	G	A	17: 34,102,543 (GRCm39)	R357W	probably damaging	Het
Krt81	T	A	15: 101,361,395 (GRCm39)	S62C	probably damaging	Het
Lgi2	T	C	5: 52,695,873 (GRCm39)	N362S	probably benign	Het
Lig1	G	T	7: 13,030,157 (GRCm39)	R378L	possibly damaging	Het
Map3k13	C	T	16: 21,740,436 (GRCm39)	R588C	probably damaging	Het
Mov10l1	T	A	15: 88,909,004 (GRCm39)	F1008L	probably damaging	Het
Nr4a2	A	G	2: 57,002,333 (GRCm39)	V40A	probably benign	Het
Nrde2	A	T	12: 100,110,399 (GRCm39)	C206S	possibly damaging	Het
Or4f14d	C	T	2: 111,960,386 (GRCm39)	V257I	probably benign	Het
Parp1	T	C	1: 180,427,777 (GRCm39)		probably null	Het
Pcdhb12	A	G	18: 37,570,089 (GRCm39)	T412A	probably damaging	Het
Plekhh2	T	A	17: 84,890,952 (GRCm39)	Y839*	probably null	Het
Pnpla6	T	A	8: 3,572,660 (GRCm39)	F316I	probably benign	Het
Prcp	C	T	7: 92,550,506 (GRCm39)	T101M	probably damaging	Het
Prex2	G	T	1: 11,252,183 (GRCm39)	R1076L	probably benign	Het
Prpf40b	T	C	15: 99,206,224 (GRCm39)		probably null	Het
Psd3	T	G	8: 68,573,568 (GRCm39)	K204N	possibly damaging	Het
Ptpro	C	A	6: 137,391,284 (GRCm39)	C801*	probably null	Het
Ptprt	A	G	2: 161,417,707 (GRCm39)	V923A	probably damaging	Het
Ptprz1	T	A	6: 23,000,383 (GRCm39)	D824E	probably benign	Het
Rasgrf1	A	G	9: 89,863,780 (GRCm39)	D582G	probably benign	Het
Rfc2	T	C	5: 134,622,070 (GRCm39)	L183P	probably damaging	Het
Rnf114	T	C	2: 167,354,438 (GRCm39)	V173A	probably damaging	Het
Scn3a	T	A	2: 65,338,994 (GRCm39)	I562F	probably benign	Het
Setmar	T	C	6: 108,053,088 (GRCm39)	I194T	probably damaging	Het
Sptb	A	T	12: 76,644,695 (GRCm39)		probably null	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Sptlc3	G	T	2: 139,473,288 (GRCm39)	M512I	possibly damaging	Het
Svep1	C	A	4: 58,049,239 (GRCm39)	A3423S	probably benign	Het
Sycp1	T	C	3: 102,803,278 (GRCm39)	T511A	probably benign	Het
Synm	T	A	7: 67,385,693 (GRCm39)		probably null	Het
Tada1	C	T	1: 166,217,511 (GRCm39)	P216L	probably damaging	Het
Tas2r117	T	A	6: 132,780,138 (GRCm39)	M92K	probably benign	Het
Thoc2l	T	C	5: 104,667,826 (GRCm39)	F783L	possibly damaging	Het
Thsd1	T	C	8: 22,748,737 (GRCm39)	L536P	probably damaging	Het
Timp2	T	G	11: 118,208,355 (GRCm39)		probably null	Het
Trak1	T	A	9: 121,196,291 (GRCm39)	V41D	possibly damaging	Het
Ubqln3	T	A	7: 103,790,283 (GRCm39)	L602F	probably damaging	Het
Vmn2r59	A	G	7: 41,661,443 (GRCm39)	F791L	probably benign	Het
Wbp4	A	G	14: 79,714,480 (GRCm39)		probably null	Het
Zng1	T	C	19: 24,918,158 (GRCm39)	D204G	probably damaging	Het

Other mutations in Glt8d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02339:Glt8d1	APN	14	30,730,767 (GRCm39)	missense	probably damaging	1.00
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
R7839:Glt8d1	UTSW	14	30,723,788 (GRCm39)	unclassified	probably benign
R7871:Glt8d1	UTSW	14	30,732,296 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACAGTCAAACTAGGGGTTGTG -3'
(R):5'- CCGAATTTGGGACCCTCTAC -3'

Sequencing Primer
(F):5'- TACGTGGCTGCTGCAGAG -3'
(R):5'- CGAATTTGGGACCCTCTACATAGG -3'

Posted On

2019-11-12