Mutagenetix > Incidental Mutation

Incidental Mutation 'R9666:Ugt8a'

735694

Institutional Source

Beutler Lab

Gene Symbol

Ugt8a

Ensembl Gene

ENSMUSG00000032854

Gene Name

UDP galactosyltransferase 8A

Synonyms

Ugt8, Cgt, mCerGT

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.719) question?

Stock #

R9666 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125658920-125732268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125708957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 51 (H51R)

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: H51R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000050852
Gene: ENSMUSG00000032854
AA Change: H51R

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: H51R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143605
Gene: ENSMUSG00000032854
AA Change: H51R

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

0.0701

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.4%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	C	A	12: 118,838,422 (GRCm39)	V1047L	probably damaging	Het
Akap6	G	A	12: 53,188,318 (GRCm39)	A1911T	probably benign	Het
Ank2	T	A	3: 126,726,838 (GRCm39)	K819*	probably null	Het
Apc2	A	G	10: 80,147,183 (GRCm39)	R746G	possibly damaging	Het
Baz1a	A	G	12: 54,988,345 (GRCm39)	I268T	probably benign	Het
Bysl	A	G	17: 47,914,865 (GRCm39)	I206T	probably benign	Het
Ccdc70	A	C	8: 22,463,357 (GRCm39)	E49A	possibly damaging	Het
Chd1	A	T	17: 15,955,976 (GRCm39)	H525L	probably damaging	Het
Col4a4	T	C	1: 82,496,670 (GRCm39)	E442G	unknown	Het
Cpd	G	A	11: 76,693,133 (GRCm39)	P718S	probably benign	Het
Dip2b	T	A	15: 100,107,461 (GRCm39)	I1391N	probably damaging	Het
Dpp9	T	C	17: 56,501,946 (GRCm39)	T541A	probably damaging	Het
Dst	C	T	1: 34,218,947 (GRCm39)	Q1796*	probably null	Het
Gm10267	T	C	18: 44,291,397 (GRCm39)	I25V	probably benign	Het
Gm32742	C	T	9: 51,061,441 (GRCm39)	R744Q	probably benign	Het
Gm37240	T	C	3: 84,422,952 (GRCm39)	Y139C	probably damaging	Het
Gm39115	A	G	7: 141,689,255 (GRCm39)	C173R	unknown	Het
Grm6	T	G	11: 50,750,877 (GRCm39)	V680G	probably damaging	Het
Grxcr2	C	T	18: 42,131,956 (GRCm39)	D38N	probably damaging	Het
Iah1	G	A	12: 21,366,587 (GRCm39)	R52H	probably damaging	Het
Ift43	A	G	12: 86,131,920 (GRCm39)	Y36C	possibly damaging	Het
Igf2r	T	C	17: 12,945,588 (GRCm39)	I334V	probably benign	Het
Igfn1	T	A	1: 135,897,692 (GRCm39)	Q958L	possibly damaging	Het
Il4i1	G	A	7: 44,489,263 (GRCm39)	A343T	possibly damaging	Het
Ints1	T	C	5: 139,748,217 (GRCm39)	I1128V	probably benign	Het
Irx1	C	A	13: 72,111,588 (GRCm39)	G7V	probably damaging	Het
Krr1	A	G	10: 111,818,896 (GRCm39)	R312G	possibly damaging	Het
Lmna	CAGCACGGTGCGTGAGC	CAGC	3: 88,389,857 (GRCm39)		probably null	Het
Lpin2	A	T	17: 71,529,065 (GRCm39)	N108Y	probably damaging	Het
Man2a1	A	T	17: 64,943,557 (GRCm39)	E204V	possibly damaging	Het
Megf8	A	G	7: 25,030,166 (GRCm39)	T434A	possibly damaging	Het
Minar1	A	T	9: 89,484,072 (GRCm39)	S442T	probably benign	Het
Muc16	T	C	9: 18,567,285 (GRCm39)	T1745A	unknown	Het
Mycbp2	G	T	14: 103,371,474 (GRCm39)	P4135T	probably damaging	Het
Nuggc	T	C	14: 65,857,045 (GRCm39)	V398A	possibly damaging	Het
Or1e22	A	G	11: 73,376,885 (GRCm39)	I255T	probably damaging	Het
Or1e29	A	T	11: 73,667,976 (GRCm39)	M59K	probably damaging	Het
Or5w11	C	T	2: 87,459,152 (GRCm39)	A115V	possibly damaging	Het
Or6a2	A	T	7: 106,600,099 (GRCm39)	S323T	probably benign	Het
Or6e1	G	T	14: 54,520,342 (GRCm39)	N3K	probably damaging	Het
Or6f1	A	G	7: 85,970,444 (GRCm39)	S239P	probably damaging	Het
Parg	A	G	14: 31,964,294 (GRCm39)	N653S	probably damaging	Het
Plek	A	G	11: 16,945,346 (GRCm39)	F18L	probably benign	Het
Pnoc	A	G	14: 65,639,247 (GRCm39)	I206T	possibly damaging	Het
Ppp4r3a	T	C	12: 101,049,129 (GRCm39)	M1V	probably null	Het
Pramel21	A	G	4: 143,341,699 (GRCm39)	T43A	probably benign	Het
Psg22	T	C	7: 18,458,248 (GRCm39)	V313A	probably benign	Het
Ptk2b	G	T	14: 66,409,546 (GRCm39)	P497T	probably damaging	Het
Rer1	A	G	4: 155,160,044 (GRCm39)		probably null	Het
Rnf130	A	G	11: 49,986,618 (GRCm39)	T321A	probably benign	Het
Rnf207	A	T	4: 152,397,717 (GRCm39)	F346I	probably damaging	Het
Rraga	T	A	4: 86,494,574 (GRCm39)	I140N	possibly damaging	Het
Rusc2	A	T	4: 43,416,262 (GRCm39)	M523L	probably benign	Het
Sh3bp1	T	A	15: 78,792,622 (GRCm39)	V495D	probably benign	Het
Slc44a5	T	C	3: 153,945,926 (GRCm39)	L153P	probably benign	Het
Spag16	T	C	1: 70,764,072 (GRCm39)	S631P	probably damaging	Het
Syne1	A	C	10: 4,984,937 (GRCm39)	L747R	probably damaging	Het
Tac1	A	G	6: 7,555,675 (GRCm39)	E21G	probably benign	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tln1	T	C	4: 43,542,957 (GRCm39)	D1344G	probably damaging	Het
Tnc	C	T	4: 63,926,045 (GRCm39)	E912K	probably damaging	Het
Trav16d-dv11	A	G	14: 53,285,037 (GRCm39)	T38A	probably benign	Het
Trbv15	T	A	6: 41,118,364 (GRCm39)	L40Q	probably damaging	Het
Trpa1	T	C	1: 14,973,455 (GRCm39)	I288V	possibly damaging	Het
Ttn	A	T	2: 76,604,941 (GRCm39)	I18331N	probably damaging	Het
Tubgcp2	A	T	7: 139,587,836 (GRCm39)	I263N	probably damaging	Het
Vmn2r2	T	C	3: 64,023,870 (GRCm39)	T904A	probably benign	Het
Zfp575	G	A	7: 24,285,323 (GRCm39)	T106M	probably damaging	Het
Zfp617	A	G	8: 72,686,539 (GRCm39)	T290A	probably benign	Het
Zfp809	T	C	9: 22,149,863 (GRCm39)	V120A	probably benign	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
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
R9762:Ugt8a	UTSW	3	125,708,900 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GTTGCCAACCATCATGTCAC -3'
(R):5'- ATGGCCACCCTCTATAATGTTC -3'

Sequencing Primer
(F):5'- GTTGCCAACCATCATGTCACAATTC -3'
(R):5'- GGCCACCCTCTATAATGTTCTAAGTC -3'

Posted On

2022-11-14