Mutagenetix > Incidental Mutation

Incidental Mutation 'R0041:Ugt8a'

64700

Institutional Source

Beutler Lab

Gene Symbol

Ugt8a

Ensembl Gene

ENSMUSG00000032854

Gene Name

UDP galactosyltransferase 8A

Synonyms

Ugt8, Cgt, mCerGT

MMRRC Submission

038335-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.804) question?

Stock #

R0041 (G1)

Quality Score

166

Status

Validated

Chromosome

Chromosomal Location

125658920-125732268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125708739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 124 (I124V)

Ref Sequence

ENSEMBL: ENSMUSP00000143605 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057944] [ENSMUST00000198610]

AlphaFold

Q64676

Predicted Effect

probably benign
Transcript: ENSMUST00000057944
AA Change: I124V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000050852
Gene: ENSMUSG00000032854
AA Change: I124V

Domain	Start	End	E-Value	Type
Pfam:UDPGT	21	510	4.2e-121	PFAM
Pfam:Glyco_tran_28_C	326	437	6.4e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196481

Predicted Effect

probably benign
Transcript: ENSMUST00000198610
AA Change: I124V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143605
Gene: ENSMUSG00000032854
AA Change: I124V

Domain	Start	End	E-Value	Type
Pfam:UDPGT	21	510	4.2e-121	PFAM
Pfam:Glyco_tran_28_C	326	437	6.4e-9	PFAM

Meta Mutation Damage Score

0.1681

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.3%

Validation Efficiency

97% (58/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the UDP-glycosyltransferase family. It catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central and peripheral nervous systems. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mutants fail to make galactolipid galactocerebroside and its sulfated derivative that are normal myelin constituents. Mutants have tremors, ataxia, progressive hindlimb paralysis and vacuole formation in ventral spinal cord due to abnormal myelin sheath. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	A	G	2: 26,873,986 (GRCm39)	R412G	probably damaging	Het
Adamts3	T	A	5: 89,832,326 (GRCm39)	N927Y	probably benign	Het
Adgra3	A	G	5: 50,117,901 (GRCm39)	Y1216H	probably benign	Het
Agpat3	C	A	10: 78,123,881 (GRCm39)		probably benign	Het
AI182371	T	A	2: 34,975,733 (GRCm39)	Q277L	possibly damaging	Het
Arhgef15	A	T	11: 68,845,342 (GRCm39)	L170Q	possibly damaging	Het
Avpi1	C	A	19: 42,112,223 (GRCm39)	E112*	probably null	Het
Braf	C	T	6: 39,617,413 (GRCm39)	A534T	probably damaging	Het
Bspry	G	C	4: 62,404,791 (GRCm39)	A196P	probably damaging	Het
Cacna1c	T	A	6: 118,570,988 (GRCm39)	L2095F	probably damaging	Het
Cdhr2	A	T	13: 54,874,651 (GRCm39)	S908C	probably damaging	Het
Cntnap5c	C	A	17: 58,183,464 (GRCm39)	Q57K	probably benign	Het
Dtna	C	T	18: 23,779,932 (GRCm39)		probably benign	Het
Dynap	A	G	18: 70,375,105 (GRCm39)	S37P	possibly damaging	Het
Efna5	A	T	17: 62,914,467 (GRCm39)		probably benign	Het
Fancm	T	A	12: 65,153,217 (GRCm39)	C1224*	probably null	Het
Fbxw16	T	A	9: 109,277,232 (GRCm39)	S37C	probably damaging	Het
Galnt4	A	G	10: 98,944,374 (GRCm39)	Y33C	probably benign	Het
Kcnk2	G	T	1: 189,027,888 (GRCm39)	N122K	probably benign	Het
Krt71	C	A	15: 101,647,753 (GRCm39)	E222D	probably damaging	Het
Ltf	T	A	9: 110,858,636 (GRCm39)	D461E	possibly damaging	Het
Mapk4	A	T	18: 74,068,109 (GRCm39)	L274Q	probably damaging	Het
Mbd6	A	G	10: 127,122,741 (GRCm39)	C103R	probably damaging	Het
Nbeal1	A	G	1: 60,321,030 (GRCm39)	N2047S	probably benign	Het
Nefh	C	T	11: 4,895,184 (GRCm39)	S335N	possibly damaging	Het
Obscn	G	T	11: 58,934,803 (GRCm39)	H4715N	probably damaging	Het
Olfml1	A	T	7: 107,189,393 (GRCm39)	I153L	possibly damaging	Het
Or6d13	G	A	6: 116,518,295 (GRCm39)	V294I	possibly damaging	Het
Or8g34	T	A	9: 39,372,772 (GRCm39)	F12Y	probably benign	Het
Pck1	A	G	2: 172,997,003 (GRCm39)	E215G	probably benign	Het
Peg12	T	A	7: 62,113,308 (GRCm39)	E263V	unknown	Het
Phkg1	T	A	5: 129,903,103 (GRCm39)	T15S	probably benign	Het
Plekhg1	T	A	10: 3,914,076 (GRCm39)	L1120*	probably null	Het
Prss59	A	T	6: 40,903,042 (GRCm39)	L110*	probably null	Het
Rlf	T	A	4: 121,007,126 (GRCm39)	H618L	probably damaging	Het
Rnf112	T	A	11: 61,343,181 (GRCm39)	R165W	probably damaging	Het
Rnf213	A	G	11: 119,293,401 (GRCm39)	T51A	probably benign	Het
Rnf220	A	G	4: 117,130,481 (GRCm39)	L293P	probably damaging	Het
Rock1	T	C	18: 10,140,240 (GRCm39)	D117G	probably damaging	Het
Rp1	A	G	1: 4,414,851 (GRCm39)	V2087A	probably benign	Het
Rpl7a	A	G	2: 26,801,563 (GRCm39)		probably null	Het
Serpinb6d	A	G	13: 33,851,615 (GRCm39)	D124G	probably damaging	Het
Skor1	T	G	9: 63,053,133 (GRCm39)	T279P	probably damaging	Het
Son	A	T	16: 91,456,221 (GRCm39)	E1656V	probably damaging	Het
Swap70	A	G	7: 109,878,562 (GRCm39)	K511E	probably benign	Het
Treh	T	C	9: 44,594,910 (GRCm39)	V262A	probably benign	Het
Trpm4	A	G	7: 44,954,370 (GRCm39)		probably null	Het
Wdr53	T	C	16: 32,075,473 (GRCm39)	V226A	probably damaging	Het
Wdr64	G	A	1: 175,554,037 (GRCm39)	W189*	probably null	Het

Other mutations in Ugt8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Ugt8a	APN	3	125,708,285 (GRCm39)	critical splice donor site	probably null
IGL01934:Ugt8a	APN	3	125,708,424 (GRCm39)	missense	probably benign	0.18
IGL02435:Ugt8a	APN	3	125,660,969 (GRCm39)	missense	probably benign	0.00
IGL03050:Ugt8a	UTSW	3	125,669,139 (GRCm39)	missense	possibly damaging	0.63
R0453:Ugt8a	UTSW	3	125,708,606 (GRCm39)	missense	probably benign	0.03
R1314:Ugt8a	UTSW	3	125,665,397 (GRCm39)	missense	probably benign	0.00
R1544:Ugt8a	UTSW	3	125,709,098 (GRCm39)	missense	probably benign	0.06
R1566:Ugt8a	UTSW	3	125,669,207 (GRCm39)	missense	probably damaging	0.96
R1770:Ugt8a	UTSW	3	125,667,852 (GRCm39)	missense	probably benign	0.11
R2126:Ugt8a	UTSW	3	125,669,195 (GRCm39)	missense	probably damaging	0.98
R2972:Ugt8a	UTSW	3	125,708,957 (GRCm39)	missense	probably benign
R2973:Ugt8a	UTSW	3	125,708,957 (GRCm39)	missense	probably benign
R3547:Ugt8a	UTSW	3	125,661,031 (GRCm39)	nonsense	probably null
R3906:Ugt8a	UTSW	3	125,708,631 (GRCm39)	missense	possibly damaging	0.95
R3907:Ugt8a	UTSW	3	125,708,631 (GRCm39)	missense	possibly damaging	0.95
R4032:Ugt8a	UTSW	3	125,667,807 (GRCm39)	missense	probably damaging	1.00
R5235:Ugt8a	UTSW	3	125,661,129 (GRCm39)	missense	probably damaging	1.00
R5890:Ugt8a	UTSW	3	125,669,202 (GRCm39)	missense	probably benign	0.01
R6790:Ugt8a	UTSW	3	125,665,340 (GRCm39)	missense	possibly damaging	0.93
R6937:Ugt8a	UTSW	3	125,709,250 (GRCm39)	start gained	probably benign
R7298:Ugt8a	UTSW	3	125,709,065 (GRCm39)	missense	probably benign	0.30
R8730:Ugt8a	UTSW	3	125,732,105 (GRCm39)	start gained	probably benign
R9211:Ugt8a	UTSW	3	125,661,130 (GRCm39)	missense	probably damaging	1.00
R9385:Ugt8a	UTSW	3	125,665,263 (GRCm39)	missense	probably benign
R9649:Ugt8a	UTSW	3	125,708,338 (GRCm39)	missense	probably damaging	0.99
R9666:Ugt8a	UTSW	3	125,708,957 (GRCm39)	missense	probably benign
R9762:Ugt8a	UTSW	3	125,708,900 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGCAGGCAGCAGGTTGTACTTC -3'
(R):5'- GGCATCTTCAACAGTACCACCTCAG -3'

Sequencing Primer
(F):5'- GCTAACCCCTATTCTGGATATGAGG -3'
(R):5'- ACAGTACCACCTCAGATGCTTTC -3'

Posted On

2013-08-06