Mutagenetix > Incidental Mutation

Incidental Mutation 'R7563:Glt8d2'

586012

Institutional Source

Beutler Lab

Gene Symbol

Glt8d2

Ensembl Gene

ENSMUSG00000020251

Gene Name

glycosyltransferase 8 domain containing 2

Synonyms

1110021D20Rik

MMRRC Submission

045655-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R7563 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82486267-82526484 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 82496659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000069188 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000020485

SMART Domains

Protein: ENSMUSP00000020485
Gene: ENSMUSG00000020251

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 null
Transcript: ENSMUST00000020485

SMART Domains

Protein: ENSMUSP00000020485
Gene: ENSMUSG00000020251

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 null
Transcript: ENSMUST00000065815

SMART Domains

Protein: ENSMUSP00000069188
Gene: ENSMUSG00000020251

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 null
Transcript: ENSMUST00000065815

SMART Domains

Protein: ENSMUSP00000069188
Gene: ENSMUSG00000020251

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,184,464 (GRCm39)	I98T	probably damaging	Het
Ahnak	T	C	19: 8,988,529 (GRCm39)	I3271T	probably damaging	Het
Aox1	G	A	1: 58,086,304 (GRCm39)	V70I	probably benign	Het
Ap1g2	A	G	14: 55,337,206 (GRCm39)	S710P	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Cacna1e	T	C	1: 154,347,162 (GRCm39)	K1064E	probably benign	Het
Capn11	T	A	17: 45,944,891 (GRCm39)	I459F	probably damaging	Het
Ccnc	A	G	4: 21,732,220 (GRCm39)	I48V	probably damaging	Het
Ces1d	T	A	8: 93,904,667 (GRCm39)	I358F	probably benign	Het
Clgn	A	T	8: 84,147,185 (GRCm39)	N379I	probably damaging	Het
Cym	T	C	3: 107,121,548 (GRCm39)	Y248C	probably damaging	Het
Epha8	T	C	4: 136,666,100 (GRCm39)	D352G	possibly damaging	Het
Eya2	T	C	2: 165,558,050 (GRCm39)		probably null	Het
Fam219a	A	C	4: 41,569,208 (GRCm39)	V10G	probably benign	Het
Fbxl5	C	T	5: 43,978,891 (GRCm39)	V20I	probably benign	Het
Fbxl9	A	G	8: 106,042,388 (GRCm39)	C147R	probably benign	Het
Fscb	T	C	12: 64,520,059 (GRCm39)	E469G	possibly damaging	Het
Grep1	A	T	17: 23,936,302 (GRCm39)	F8L	probably benign	Het
Helt	T	C	8: 46,746,630 (GRCm39)		probably benign	Het
Igkv8-27	G	T	6: 70,148,887 (GRCm39)	T89K	probably benign	Het
Ipo5	T	A	14: 121,183,567 (GRCm39)	H1048Q	probably benign	Het
Kalrn	T	C	16: 34,212,464 (GRCm39)	D28G	probably damaging	Het
Kcnh4	G	A	11: 100,632,680 (GRCm39)	P936S	probably benign	Het
Klrd1	A	G	6: 129,570,701 (GRCm39)	I37M	possibly damaging	Het
Kmt2e	T	C	5: 23,705,271 (GRCm39)	V1267A	probably damaging	Het
Marchf1	A	T	8: 66,920,965 (GRCm39)	Q214L	probably damaging	Het
Mlip	G	T	9: 77,020,279 (GRCm39)	H52N	probably damaging	Het
Oas1e	T	C	5: 120,927,021 (GRCm39)	R229G	probably benign	Het
Ogfr	T	A	2: 180,234,300 (GRCm39)		probably null	Het
Or4g16	T	C	2: 111,137,134 (GRCm39)	F195L	probably benign	Het
Or5m10	T	A	2: 85,717,482 (GRCm39)	Y113N	probably damaging	Het
Pde4d	T	C	13: 110,087,541 (GRCm39)	I636T	probably benign	Het
Pex5l	C	T	3: 33,008,625 (GRCm39)	V426I	probably damaging	Het
Pmfbp1	A	G	8: 110,252,006 (GRCm39)	K384E	possibly damaging	Het
Pramel22	A	T	4: 143,380,675 (GRCm39)	Y449*	probably null	Het
Prl6a1	T	G	13: 27,498,221 (GRCm39)		probably null	Het
Prss23	A	T	7: 89,159,038 (GRCm39)	W344R	probably damaging	Het
Ptar1	T	A	19: 23,697,680 (GRCm39)	D397E	probably benign	Het
Qrsl1	G	A	10: 43,752,513 (GRCm39)	R437C	probably damaging	Het
Rab6a	G	T	7: 100,257,404 (GRCm39)		probably benign	Het
Samd14	C	A	11: 94,912,239 (GRCm39)	S205R	probably benign	Het
Sel1l3	T	C	5: 53,343,326 (GRCm39)	Y322C	probably damaging	Het
Slc30a5	A	T	13: 100,940,480 (GRCm39)	L669I	probably benign	Het
Ssc4d	A	G	5: 135,991,887 (GRCm39)	L419P	probably damaging	Het
Tbc1d2b	A	T	9: 90,101,063 (GRCm39)	Y642*	probably null	Het
Tbc1d2b	A	C	9: 90,108,301 (GRCm39)	F417V	probably benign	Het
Top2a	T	C	11: 98,907,005 (GRCm39)	D212G	probably damaging	Het
Trim39	A	T	17: 36,571,807 (GRCm39)	V317E	probably damaging	Het
Uncx	G	A	5: 139,530,261 (GRCm39)	R113H	probably damaging	Het
Usp4	A	G	9: 108,256,543 (GRCm39)	S655G	probably benign	Het
Vmn2r114	C	T	17: 23,510,000 (GRCm39)	V827I	probably benign	Het
Vmn2r28	T	A	7: 5,491,200 (GRCm39)	N349I	probably benign	Het
Vmn2r3	A	G	3: 64,182,770 (GRCm39)	W310R	possibly damaging	Het
Xirp2	T	C	2: 67,340,245 (GRCm39)	W829R	probably damaging	Het
Zfp574	C	A	7: 24,780,777 (GRCm39)	H600N	possibly damaging	Het

Other mutations in Glt8d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00686:Glt8d2	APN	10	82,487,347 (GRCm39)	missense	possibly damaging	0.83
IGL00848:Glt8d2	APN	10	82,497,999 (GRCm39)	critical splice donor site	probably null
IGL01479:Glt8d2	APN	10	82,496,570 (GRCm39)	missense	probably damaging	1.00
IGL03185:Glt8d2	APN	10	82,498,110 (GRCm39)	missense	probably damaging	1.00
vitus	UTSW	10	82,500,547 (GRCm39)	missense	possibly damaging	0.54
R0139:Glt8d2	UTSW	10	82,496,644 (GRCm39)	missense	probably damaging	1.00
R0255:Glt8d2	UTSW	10	82,487,361 (GRCm39)	splice site	probably null
R0464:Glt8d2	UTSW	10	82,490,564 (GRCm39)	missense	possibly damaging	0.81
R0483:Glt8d2	UTSW	10	82,497,987 (GRCm39)	unclassified	probably benign
R0789:Glt8d2	UTSW	10	82,500,519 (GRCm39)	missense	probably damaging	1.00
R1496:Glt8d2	UTSW	10	82,495,372 (GRCm39)	missense	probably damaging	0.98
R1930:Glt8d2	UTSW	10	82,500,476 (GRCm39)	missense	probably benign	0.00
R3715:Glt8d2	UTSW	10	82,488,571 (GRCm39)	missense	probably benign	0.00
R4493:Glt8d2	UTSW	10	82,500,547 (GRCm39)	missense	possibly damaging	0.54
R4707:Glt8d2	UTSW	10	82,496,583 (GRCm39)	missense	probably damaging	1.00
R4785:Glt8d2	UTSW	10	82,496,583 (GRCm39)	missense	probably damaging	1.00
R4886:Glt8d2	UTSW	10	82,487,874 (GRCm39)	unclassified	probably benign
R5420:Glt8d2	UTSW	10	82,488,516 (GRCm39)	missense	probably benign	0.02
R5485:Glt8d2	UTSW	10	82,487,282 (GRCm39)	missense	possibly damaging	0.79
R5859:Glt8d2	UTSW	10	82,507,915 (GRCm39)	start codon destroyed	probably null
R6416:Glt8d2	UTSW	10	82,488,740 (GRCm39)	missense	probably damaging	1.00
R7527:Glt8d2	UTSW	10	82,488,403 (GRCm39)	missense	unknown
R7699:Glt8d2	UTSW	10	82,498,122 (GRCm39)	splice site	probably null
R8322:Glt8d2	UTSW	10	82,498,037 (GRCm39)	missense	probably damaging	1.00
R8896:Glt8d2	UTSW	10	82,490,616 (GRCm39)	missense	probably damaging	0.98
R9716:Glt8d2	UTSW	10	82,496,644 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCACTAGGTAGCTAGTTACATGGG -3'
(R):5'- CTGGATGAAGGAGAGATTCTCTGG -3'

Sequencing Primer
(F):5'- CTAGGTAGCTAGTTACATGGGAAATG -3'
(R):5'- AGAGATTCTCTGGGCCAGC -3'

Posted On

2019-10-18