Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01934:Ugt8a'

180563

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ugt8a

Ensembl Gene

ENSMUSG00000032854

Gene Name

UDP galactosyltransferase 8A

Synonyms

Ugt8, Cgt, mCerGT

Accession Numbers

Essential gene?

Probably essential (E-score: 0.804) question?

Stock #

IGL01934

Quality Score

Status

Chromosome

Chromosomal Location

125658920-125732268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125708424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 229 (S229P)

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: S229P

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000050852
Gene: ENSMUSG00000032854
AA Change: S229P

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: S229P

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143605
Gene: ENSMUSG00000032854
AA Change: S229P

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

Coding Region Coverage

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,823,112 (GRCm39)	K362E	probably damaging	Het
4932438H23Rik	T	A	16: 90,852,753 (GRCm39)	T128S	probably damaging	Het
Aars1	T	A	8: 111,774,650 (GRCm39)	I593N	probably damaging	Het
Abca6	A	T	11: 110,079,481 (GRCm39)	N1224K	probably benign	Het
Abcc5	A	T	16: 20,241,191 (GRCm39)		probably benign	Het
Adam7	A	G	14: 68,770,048 (GRCm39)	L35P	probably damaging	Het
Ahnak	T	A	19: 8,980,021 (GRCm39)	L435Q	probably damaging	Het
Ankef1	A	G	2: 136,394,451 (GRCm39)	E620G	possibly damaging	Het
Aoc1l3	A	T	6: 48,965,695 (GRCm39)	I568F	probably damaging	Het
Ap3d1	A	T	10: 80,545,092 (GRCm39)	L1082*	probably null	Het
Atp6v0a4	T	A	6: 38,028,481 (GRCm39)	I712F	possibly damaging	Het
Bco1	T	A	8: 117,822,784 (GRCm39)	F5L	possibly damaging	Het
Cacna2d4	A	T	6: 119,285,729 (GRCm39)	S794C	probably damaging	Het
Camk2d	T	C	3: 126,628,304 (GRCm39)		probably null	Het
Capn15	T	C	17: 26,181,998 (GRCm39)	T604A	probably damaging	Het
Cd180	A	T	13: 102,839,366 (GRCm39)	D83V	probably damaging	Het
Ces1a	C	A	8: 93,759,278 (GRCm39)	R286L	probably damaging	Het
Col6a6	A	G	9: 105,575,858 (GRCm39)		probably null	Het
Crnkl1	A	G	2: 145,773,202 (GRCm39)	V148A	probably benign	Het
Epas1	A	T	17: 87,131,157 (GRCm39)	K312N	probably damaging	Het
Fbxw2	T	C	2: 34,712,618 (GRCm39)	S148G	probably damaging	Het
Fig4	T	C	10: 41,104,108 (GRCm39)	T791A	probably benign	Het
Galnt9	A	T	5: 110,750,502 (GRCm39)	I340F	possibly damaging	Het
Gfap	G	A	11: 102,785,286 (GRCm39)	A230V	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm454	T	C	5: 138,205,424 (GRCm39)		noncoding transcript	Het
Il24	A	T	1: 130,811,614 (GRCm39)	L115Q	probably damaging	Het
Ipp	C	A	4: 116,367,852 (GRCm39)	N28K	probably damaging	Het
Kalrn	A	T	16: 34,018,882 (GRCm39)		probably null	Het
Klf10	C	T	15: 38,297,528 (GRCm39)	V171M	probably benign	Het
Man1b1	T	C	2: 25,235,523 (GRCm39)	S350P	probably benign	Het
Mfsd4a	T	C	1: 131,974,049 (GRCm39)	Y343C	probably damaging	Het
Mrpl58	C	A	11: 115,301,555 (GRCm39)		probably benign	Het
Myo7b	A	G	18: 32,134,394 (GRCm39)		probably null	Het
Nbas	T	C	12: 13,339,880 (GRCm39)		probably benign	Het
Nisch	A	G	14: 30,898,696 (GRCm39)		probably benign	Het
Or1o2	A	T	17: 37,542,439 (GRCm39)	V274D	probably damaging	Het
Or52z14	T	C	7: 103,253,182 (GRCm39)	F107S	probably damaging	Het
Or5p69	A	G	7: 107,967,368 (GRCm39)	I224V	probably damaging	Het
Parva	T	A	7: 112,187,760 (GRCm39)	C352*	probably null	Het
Ptf1a	T	A	2: 19,451,431 (GRCm39)	C254S	possibly damaging	Het
R3hdm1	G	T	1: 128,164,272 (GRCm39)	R1062L	probably benign	Het
Rnf44	A	G	13: 54,829,763 (GRCm39)	V407A	probably damaging	Het
Shank3	T	C	15: 89,434,049 (GRCm39)	L1598P	probably damaging	Het
Slit2	T	C	5: 48,395,747 (GRCm39)	S717P	possibly damaging	Het
Tdpoz4	A	G	3: 93,704,779 (GRCm39)	K359E	probably damaging	Het
Tmtc4	A	T	14: 123,165,047 (GRCm39)	L604*	probably null	Het
Tnfrsf21	A	T	17: 43,376,078 (GRCm39)	N488I	probably benign	Het
Tnfsf8	A	G	4: 63,752,747 (GRCm39)		probably benign	Het
Tnpo3	A	T	6: 29,575,019 (GRCm39)	L382M	probably benign	Het
Tut1	T	C	19: 8,931,355 (GRCm39)	C18R	probably damaging	Het
Usp22	T	C	11: 61,046,114 (GRCm39)	E476G	probably damaging	Het
Vill	G	T	9: 118,895,877 (GRCm39)	A146S	probably damaging	Het
Vmn1r178	T	C	7: 23,593,362 (GRCm39)	Y137H	probably damaging	Het
Wdfy1	A	T	1: 79,717,833 (GRCm39)	W51R	probably damaging	Het
Zc3hav1	A	T	6: 38,296,768 (GRCm39)		probably null	Het
Zfp236	A	T	18: 82,651,245 (GRCm39)	V889E	probably damaging	Het
Zscan20	T	C	4: 128,486,277 (GRCm39)	D141G	possibly damaging	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
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
R0041:Ugt8a	UTSW	3	125,708,739 (GRCm39)	missense	probably benign	0.00
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

Posted On

2014-05-07