Mutagenetix > Incidental Mutation

Incidental Mutation 'R1540:Glt8d1'

171690

Institutional Source

Beutler Lab

Gene Symbol

Glt8d1

Ensembl Gene

ENSMUSG00000021916

Gene Name

glycosyltransferase 8 domain containing 1

Synonyms

5430414N14Rik, 2410004H05Rik

MMRRC Submission

039579-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1540 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30723357-30733948 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30733549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 345 (V345I)

Ref Sequence

ENSEMBL: ENSMUSP00000129323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022476] [ENSMUST00000037739] [ENSMUST00000168584] [ENSMUST00000226740] [ENSMUST00000228341] [ENSMUST00000226378] [ENSMUST00000227467]

AlphaFold

Q6NSU3

Predicted Effect

probably benign
Transcript: ENSMUST00000022476
AA Change: V345I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000022476
Gene: ENSMUSG00000021916
AA Change: V345I

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

noncoding transcript
Transcript: ENSMUST00000104024

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104609

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157287

Predicted Effect

probably benign
Transcript: ENSMUST00000168584
AA Change: V345I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000129323
Gene: ENSMUSG00000021916
AA Change: V345I

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: ENSMUST00000228427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227869

Predicted Effect

probably benign
Transcript: ENSMUST00000226740

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227389

Predicted Effect

probably benign
Transcript: ENSMUST00000228341

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226959

Predicted Effect

probably benign
Transcript: ENSMUST00000226379

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227087

Predicted Effect

probably benign
Transcript: ENSMUST00000226378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226348

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226271

Predicted Effect

probably benign
Transcript: ENSMUST00000227467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227783

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228774

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228914

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228713

Meta Mutation Damage Score

0.0813

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

96% (72/75)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	G	3: 116,574,384 (GRCm39)	C767R	probably benign	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Ap3d1	A	T	10: 80,551,775 (GRCm39)	I644N	probably benign	Het
Asb16	A	G	11: 102,163,402 (GRCm39)	I131V	probably benign	Het
Atp6v0a2	C	A	5: 124,784,638 (GRCm39)	A307D	probably damaging	Het
C1qtnf1	C	T	11: 118,338,749 (GRCm39)	H140Y	probably benign	Het
Cacna1g	T	A	11: 94,347,865 (GRCm39)	D741V	probably damaging	Het
Caprin2	T	A	6: 148,777,969 (GRCm39)	T211S	probably benign	Het
Carmil1	T	C	13: 24,283,037 (GRCm39)	E89G	possibly damaging	Het
Casz1	T	A	4: 149,027,357 (GRCm39)		probably benign	Het
Catsperb	G	A	12: 101,378,589 (GRCm39)	R30Q	probably benign	Het
Ccdc102a	A	T	8: 95,634,341 (GRCm39)		probably null	Het
Ccdc110	G	T	8: 46,395,362 (GRCm39)	E418*	probably null	Het
Ccdc90b	C	T	7: 92,231,024 (GRCm39)	A210V	probably benign	Het
Cdadc1	G	T	14: 59,823,532 (GRCm39)	A320E	probably damaging	Het
Cdadc1	T	A	14: 59,823,541 (GRCm39)	Q317L	probably damaging	Het
Cep170	C	A	1: 176,567,498 (GRCm39)	W1396L	probably damaging	Het
Col4a6	T	C	X: 140,010,854 (GRCm39)	T129A	probably damaging	Het
Ctcfl	C	T	2: 172,954,141 (GRCm39)	D319N	probably benign	Het
Dclk1	T	C	3: 55,385,244 (GRCm39)	S45P	probably damaging	Het
Efcab3	T	C	11: 104,999,726 (GRCm39)	I5581T	probably benign	Het
Evi2	T	C	11: 79,406,412 (GRCm39)	I388V	probably benign	Het
Fbxl5	A	T	5: 43,915,978 (GRCm39)	V435E	possibly damaging	Het
Fig4	A	T	10: 41,064,582 (GRCm39)	M887K	possibly damaging	Het
Gm5709	T	C	3: 59,526,073 (GRCm39)		noncoding transcript	Het
Hsp90b1	A	G	10: 86,529,906 (GRCm39)	F264L	probably damaging	Het
Id3	A	G	4: 135,871,250 (GRCm39)	S21G	possibly damaging	Het
Ighe	T	A	12: 113,235,066 (GRCm39)	N365Y	unknown	Het
Il17rd	T	G	14: 26,821,915 (GRCm39)	M403R	probably damaging	Het
Ints10	A	G	8: 69,249,365 (GRCm39)		probably benign	Het
Kcnc4	T	A	3: 107,352,743 (GRCm39)		probably null	Het
Kctd19	A	G	8: 106,114,511 (GRCm39)	S517P	probably damaging	Het
Lama5	A	G	2: 179,821,944 (GRCm39)	F2964L	probably benign	Het
Lin54	A	T	5: 100,628,109 (GRCm39)	N31K	probably damaging	Het
Lrrc8e	A	G	8: 4,284,990 (GRCm39)	K405R	probably benign	Het
Lyst	T	A	13: 13,809,686 (GRCm39)	M452K	possibly damaging	Het
Mroh7	A	G	4: 106,560,273 (GRCm39)	L677P	probably benign	Het
Mrps27	T	A	13: 99,541,558 (GRCm39)	F221I	probably benign	Het
Nhlrc1	C	T	13: 47,167,820 (GRCm39)	V146M	probably damaging	Het
Nlrp9b	T	A	7: 19,782,772 (GRCm39)	C895*	probably null	Het
Nod1	T	C	6: 54,920,960 (GRCm39)	T453A	probably benign	Het
Nodal	T	C	10: 61,258,764 (GRCm39)	V67A	probably damaging	Het
Ntsr1	T	C	2: 180,184,440 (GRCm39)	L381P	probably damaging	Het
Or13c25	T	C	4: 52,910,996 (GRCm39)	D266G	probably benign	Het
Or2b2b	T	A	13: 21,858,700 (GRCm39)	Q138L	probably benign	Het
Or9e1	T	A	11: 58,732,477 (GRCm39)	M179K	probably benign	Het
P2ry14	T	A	3: 59,022,686 (GRCm39)	K267M	probably benign	Het
Pcdh1	T	C	18: 38,322,779 (GRCm39)	N1018S	probably benign	Het
Pkn3	G	A	2: 29,974,703 (GRCm39)	V406I	probably damaging	Het
Prkcb	C	T	7: 122,226,916 (GRCm39)	T634I	probably damaging	Het
Psme2b	T	A	11: 48,836,209 (GRCm39)		probably null	Het
Ptgfrn	A	G	3: 100,967,970 (GRCm39)	I541T	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ralgapb	T	C	2: 158,307,746 (GRCm39)	V684A	probably benign	Het
Rbbp5	C	T	1: 132,422,020 (GRCm39)	R307*	probably null	Het
Rcor1	T	A	12: 111,070,037 (GRCm39)		probably benign	Het
Rlbp1	C	T	7: 79,029,808 (GRCm39)	A142T	probably damaging	Het
Rps6ka2	A	G	17: 7,560,305 (GRCm39)	E581G	probably null	Het
Sars1	A	T	3: 108,340,461 (GRCm39)	V155E	probably benign	Het
Sec31a	G	C	5: 100,523,178 (GRCm39)	P569A	probably damaging	Het
Selenof	A	T	3: 144,300,685 (GRCm39)	K111*	probably null	Het
Serpinb7	C	T	1: 107,355,998 (GRCm39)	A7V	possibly damaging	Het
Smc4	T	A	3: 68,924,105 (GRCm39)	Y298N	probably damaging	Het
Snrpa1	T	A	7: 65,720,409 (GRCm39)	I204N	probably damaging	Het
Spry4	T	G	18: 38,734,740 (GRCm39)		probably benign	Het
Tcea2	A	G	2: 181,328,751 (GRCm39)	N261S	possibly damaging	Het
Tmem59l	A	G	8: 70,937,804 (GRCm39)	F192S	probably benign	Het
Tnr	T	A	1: 159,677,675 (GRCm39)	I20N	probably damaging	Het
Ttll5	C	T	12: 85,938,982 (GRCm39)	Q427*	probably null	Het
Vps45	C	T	3: 95,955,658 (GRCm39)	A111T	probably damaging	Het
Zfp395	T	C	14: 65,630,523 (GRCm39)	S358P	probably benign	Het
Zfp438	A	G	18: 5,210,740 (GRCm39)	V766A	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- ACCCTATGTGGAATGTCCGCCATC -3'
(R):5'- GCTGGAGTTCTCTGTCCTTCAAGTC -3'

Sequencing Primer
(F):5'- ggaatagatacaaaggcagcaag -3'
(R):5'- CTGTCCTTCAAGTCAGCAGTATAG -3'

Posted On

2014-04-13