Mutagenetix > Incidental Mutations

Incidental Mutation 'R7527:Glt8d2'

583084

Institutional Source

Beutler Lab

Gene Symbol

Glt8d2

Ensembl Gene

ENSMUSG00000020251

Gene Name

glycosyltransferase 8 domain containing 2

Synonyms

1110021D20Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R7527 (G1)

Quality Score

145.008

Status

Not validated

Chromosome

Chromosomal Location

82650433-82690650 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82652569 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 356 (S356T)

Ref Sequence

ENSEMBL: ENSMUSP00000069188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020485] [ENSMUST00000065815] [ENSMUST00000092266] [ENSMUST00000125505] [ENSMUST00000151390] [ENSMUST00000177353]

Predicted Effect

probably benign
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

unknown
Transcript: ENSMUST00000065815
AA Change: S356T

SMART Domains

Protein: ENSMUSP00000069188
Gene: ENSMUSG00000020251
AA Change: S356T

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: ENSMUST00000092266

SMART Domains

Protein: ENSMUSP00000089917
Gene: ENSMUSG00000034674

Domain	Start	End	E-Value	Type
internal_repeat_1	3	21	1.82e-5	PROSPERO
internal_repeat_1	18	36	1.82e-5	PROSPERO
low complexity region	39	57	N/A	INTRINSIC
low complexity region	63	84	N/A	INTRINSIC
UDG	112	278	2.03e0	SMART
UreE_C	112	278	2.03e0	SMART
low complexity region	324	335	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125505

Predicted Effect

probably benign
Transcript: ENSMUST00000150269

Predicted Effect

probably benign
Transcript: ENSMUST00000151390

SMART Domains

Protein: ENSMUSP00000121000
Gene: ENSMUSG00000034674

Domain	Start	End	E-Value	Type
internal_repeat_1	23	45	8.83e-7	PROSPERO
internal_repeat_1	38	60	8.83e-7	PROSPERO
low complexity region	63	81	N/A	INTRINSIC
low complexity region	87	108	N/A	INTRINSIC
UDG	136	302	1.6e-4	SMART
UreE_C	136	302	1.6e-4	SMART
low complexity region	348	359	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176195

Predicted Effect

probably benign
Transcript: ENSMUST00000176326

SMART Domains

Protein: ENSMUSP00000135009
Gene: ENSMUSG00000034674

Domain	Start	End	E-Value	Type
Blast:UreE_C	2	78	9e-50	BLAST
SCOP:d1muga_	2	83	2e-10	SMART
PDB:2D07\|A	2	123	9e-85	PDB
low complexity region	124	135	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177353

SMART Domains

Protein: ENSMUSP00000135621
Gene: ENSMUSG00000034674

Domain	Start	End	E-Value	Type
UDG	28	185	9.44e0	SMART

Coding Region Coverage

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

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	T	A	1: 136,214,384	D659V	possibly damaging	Het
Abca5	A	T	11: 110,327,730		probably null	Het
Abcc10	A	G	17: 46,312,904	S810P	possibly damaging	Het
Adam22	T	C	5: 8,082,239	H138R	possibly damaging	Het
Adcyap1	T	A	17: 93,202,829	L95*	probably null	Het
Adgrl4	C	A	3: 151,439,250	T12N	probably benign	Het
Alpi	T	C	1: 87,098,955	N438S	probably benign	Het
Ankrd44	T	C	1: 54,648,324	N979D	probably benign	Het
Ankrd60	A	C	2: 173,578,173	S57A	probably benign	Het
Arfgef3	G	A	10: 18,646,629	P550S	probably benign	Het
Btbd16	A	T	7: 130,820,472	D390V	probably damaging	Het
Cacna2d4	T	C	6: 119,271,247	V374A	probably benign	Het
Cdcp1	A	T	9: 123,185,107	F201I	probably benign	Het
Cdh15	A	T	8: 122,862,126	D313V	probably damaging	Het
Cfap157	A	G	2: 32,779,878	L231P	possibly damaging	Het
Chl1	T	G	6: 103,711,201	C1001G	probably damaging	Het
Cmtr2	A	G	8: 110,222,138	H360R	probably damaging	Het
Csmd1	C	T	8: 16,211,718	A922T	probably damaging	Het
Fam129c	C	G	8: 71,606,698	C568W	probably damaging	Het
Fancg	C	T	4: 43,010,116		probably benign	Het
Gm19410	T	A	8: 35,802,232	C1074S	probably damaging	Het
Gm3259	A	G	5: 95,342,550	D347G	probably benign	Het
Gm9195	C	T	14: 72,473,870	C376Y	possibly damaging	Het
Gnai3	G	A	3: 108,118,377	R129C		Het
Golph3	T	G	15: 12,343,318		probably null	Het
Hist2h2bb	T	A	3: 96,269,870	V40D	possibly damaging	Het
Hk1	C	A	10: 62,304,782	V105F	probably damaging	Het
Hoxd8	A	G	2: 74,705,657	Y37C	probably damaging	Het
Jun	G	T	4: 95,050,997	P92Q	probably damaging	Het
Klhl14	C	T	18: 21,651,540	V277I	probably damaging	Het
Lrrc51	C	T	7: 101,920,636		probably null	Het
Man2c1	T	A	9: 57,137,816	Y429*	probably null	Het
Myo18a	T	A	11: 77,843,580	C1476S	probably benign	Het
Neb	G	C	2: 52,176,623	T6155R	probably damaging	Het
Nuf2	T	C	1: 169,498,853	E443G	possibly damaging	Het
Olfr1164	A	T	2: 88,093,610	C109S	probably damaging	Het
Olfr1211	A	G	2: 88,930,090	V75A	probably benign	Het
Olfr16	C	T	1: 172,956,944	H50Y	probably benign	Het
Olfr851	A	G	9: 19,497,389	I214V	probably damaging	Het
Osmr	A	G	15: 6,827,122	S515P	probably damaging	Het
Pik3r5	T	C	11: 68,476,351	L84P	probably damaging	Het
Plcl1	T	C	1: 55,697,114	I538T	probably damaging	Het
Plxnb1	G	T	9: 109,100,861	V262L	probably damaging	Het
Pprc1	T	C	19: 46,069,365	S1320P	unknown	Het
Prap1	G	A	7: 140,096,207		probably null	Het
Psg23	A	T	7: 18,614,774	V36D	probably damaging	Het
Ptgr1	A	G	4: 58,982,887	Y49H	probably damaging	Het
Ptprr	A	G	10: 116,251,199	T528A	probably benign	Het
Rapgef6	T	C	11: 54,634,961	S541P	unknown	Het
Rnf17	A	T	14: 56,516,438	D1534V	probably damaging	Het
Sdk1	T	G	5: 141,792,976	S236R	possibly damaging	Het
Sepsecs	A	G	5: 52,644,051	M423T	possibly damaging	Het
Serpina1f	T	G	12: 103,691,908	Y246S	probably benign	Het
Sftpb	T	A	6: 72,305,064	V46E	possibly damaging	Het
Slc4a1ap	G	A	5: 31,534,131	V424I	probably benign	Het
Slc5a4b	G	A	10: 76,110,908	T10M	probably benign	Het
Slc6a16	T	C	7: 45,272,639	W664R	probably damaging	Het
Snx8	T	C	5: 140,356,072	E138G	probably benign	Het
Sox6	T	C	7: 115,777,173	E108G	probably benign	Het
Sptan1	A	T	2: 29,980,197	I120F	probably damaging	Het
Sptbn4	T	C	7: 27,375,590	E1452G	possibly damaging	Het
Stac2	T	A	11: 98,039,626	E372V	probably damaging	Het
Taco1	A	T	11: 106,071,969	I161F	probably damaging	Het
Taf1d	C	A	9: 15,308,837	D127E	possibly damaging	Het
Tenm2	T	A	11: 36,206,976	N482Y	probably damaging	Het
Tenm3	A	G	8: 48,276,600	V1457A	possibly damaging	Het
Tmem200c	A	T	17: 68,841,676	H418L	probably benign	Het
Tmem81	T	C	1: 132,508,146	V230A	probably benign	Het
Tnn	C	T	1: 160,118,504	V915I	possibly damaging	Het
Trav8d-2	A	T	14: 53,042,697	Y48F	possibly damaging	Het
Trpm2	T	C	10: 77,966,060	N57S	probably benign	Het
Ttn	G	A	2: 76,768,039	T19510M	probably damaging	Het
Ubl7	T	C	9: 57,912,884	L73P	unknown	Het
Uso1	A	G	5: 92,199,875	D845G	possibly damaging	Het
Utrn	G	T	10: 12,401,382	P3397Q	possibly damaging	Het
Vmn2r60	AG	A	7: 42,195,734		probably null	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
IGL01479:Glt8d2	APN	10	82660736	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTACTGACCTCCACTTTGATGGG -3'
(R):5'- TCAGGCTCAGAATCTGCAAATG -3'

Sequencing Primer
(F):5'- GGGATTTTACATCTATGGGAACAG -3'
(R):5'- AATGCAAATGGTGTCTTTAGTTGCC -3'

Posted On

2019-10-17