Mutagenetix > Incidental Mutation

Incidental Mutation 'R9762:Ugt8a'

733049

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?

Probably essential (E-score: 0.804) question?

Stock #

R9762 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125658920-125732268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125708900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 70 (L70P)

Ref Sequence

ENSEMBL: ENSMUSP00000050852 (fasta)

Gene Model

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

AlphaFold

Q64676

Predicted Effect

probably damaging
Transcript: ENSMUST00000057944
AA Change: L70P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050852
Gene: ENSMUSG00000032854
AA Change: L70P

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

probably damaging
Transcript: ENSMUST00000198610
AA Change: L70P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143605
Gene: ENSMUSG00000032854
AA Change: L70P

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

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.6%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	G	T	19: 57,025,691 (GRCm39)	R851S	probably damaging	Het
Acap2	C	A	16: 30,929,763 (GRCm39)	A407S	probably damaging	Het
Adam26a	A	T	8: 44,021,635 (GRCm39)	S618R	probably benign	Het
Adamtsl5	T	C	10: 80,180,896 (GRCm39)	Y89C	probably damaging	Het
Aebp2	T	A	6: 140,588,021 (GRCm39)	S364T	probably damaging	Het
Ankfy1	A	G	11: 72,621,401 (GRCm39)	E229G	probably benign	Het
Arhgap27	G	T	11: 103,251,511 (GRCm39)	D72E	probably benign	Het
Arhgap33	T	C	7: 30,230,950 (GRCm39)	E191G	probably null	Het
Atp6v0a1	C	T	11: 100,946,427 (GRCm39)	H807Y	possibly damaging	Het
Ccdc113	A	C	8: 96,272,605 (GRCm39)	E237D	probably benign	Het
Cd200r2	T	A	16: 44,729,420 (GRCm39)	I25K	probably benign	Het
Cd300c2	A	G	11: 114,887,775 (GRCm39)	V209A	probably damaging	Het
Cdkn2d	T	A	9: 21,200,383 (GRCm39)	E129D	probably benign	Het
Cfap251	A	G	5: 123,460,533 (GRCm39)	Y1165C	probably damaging	Het
Chd9	A	T	8: 91,712,741 (GRCm39)	N855Y	unknown	Het
Cntn3	A	G	6: 102,254,196 (GRCm39)	C249R	probably damaging	Het
Col12a1	T	C	9: 79,527,266 (GRCm39)	E2688G	possibly damaging	Het
Copb2	C	T	9: 98,464,901 (GRCm39)	T612I	probably benign	Het
Cplx1	A	T	5: 108,673,378 (GRCm39)	D29E	possibly damaging	Het
Cracd	A	G	5: 77,006,555 (GRCm39)	K972R	unknown	Het
Cstf3	A	T	2: 104,494,684 (GRCm39)	R645*	probably null	Het
Ctdp1	A	T	18: 80,492,550 (GRCm39)	Y648*	probably null	Het
Daam1	T	A	12: 71,990,855 (GRCm39)	D156E	unknown	Het
Dbn1	G	A	13: 55,622,824 (GRCm39)	P599L	probably damaging	Het
Diaph1	C	A	18: 37,987,589 (GRCm39)	V1056F	probably damaging	Het
Dzip3	A	T	16: 48,748,707 (GRCm39)	D870E	probably damaging	Het
Efcab12	T	C	6: 115,800,331 (GRCm39)	T231A	possibly damaging	Het
Efl1	A	C	7: 82,412,596 (GRCm39)	D995A	probably benign	Het
Fam186a	T	C	15: 99,842,393 (GRCm39)	T1284A	possibly damaging	Het
Fbxo33	T	C	12: 59,251,708 (GRCm39)	E269G	probably benign	Het
Foxj3	T	A	4: 119,483,540 (GRCm39)	M604K	unknown	Het
Gabra4	A	G	5: 71,814,463 (GRCm39)	S86P	unknown	Het
Gnas	G	A	2: 174,140,639 (GRCm39)	W269*	probably null	Het
Gpc6	T	G	14: 118,202,258 (GRCm39)	N489K	probably damaging	Het
Gprin3	T	C	6: 59,331,236 (GRCm39)	K357R	possibly damaging	Het
Grip1	G	T	10: 119,811,906 (GRCm39)	A286S	possibly damaging	Het
Grm4	A	T	17: 27,721,688 (GRCm39)	V151E	probably damaging	Het
Gucy1b1	A	T	3: 81,942,065 (GRCm39)	S565T	possibly damaging	Het
Hace1	T	C	10: 45,525,014 (GRCm39)	V260A	probably benign	Het
Hepacam2	A	G	6: 3,486,940 (GRCm39)	I139T	probably damaging	Het
Hspa4l	T	C	3: 40,727,057 (GRCm39)	I486T	probably benign	Het
Igkv8-19	T	C	6: 70,317,866 (GRCm39)	Y120C	probably damaging	Het
Iglv2	C	T	16: 19,079,548 (GRCm39)		probably benign	Het
Igsf10	A	T	3: 59,237,106 (GRCm39)	L1025H	probably damaging	Het
Itpkb	A	G	1: 180,161,752 (GRCm39)	N626S	probably benign	Het
Jarid2	C	T	13: 45,068,253 (GRCm39)	R1092W	possibly damaging	Het
Klc3	C	T	7: 19,132,023 (GRCm39)	W118*	probably null	Het
Klhl25	C	T	7: 75,516,741 (GRCm39)	T549I	probably damaging	Het
Krtap6-2	T	A	16: 89,216,763 (GRCm39)	Y68F	unknown	Het
Mtcl1	T	C	17: 66,673,347 (GRCm39)	N1121D	probably benign	Het
Ncbp3	A	G	11: 72,961,668 (GRCm39)	K314R	probably benign	Het
Nop2	T	C	6: 125,121,272 (GRCm39)	W685R	probably benign	Het
Orc1	T	A	4: 108,447,874 (GRCm39)	D40E	probably benign	Het
Pappa2	G	T	1: 158,684,948 (GRCm39)	N730K	probably damaging	Het
Parpbp	A	G	10: 87,960,815 (GRCm39)	S224P	possibly damaging	Het
Pdgfc	A	G	3: 80,944,792 (GRCm39)	R17G	probably benign	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Pik3r6	T	A	11: 68,424,358 (GRCm39)	L321*	probably null	Het
Pnp2	T	C	14: 51,197,006 (GRCm39)	W31R	probably damaging	Het
Prr12	T	C	7: 44,696,954 (GRCm39)	Y987C	unknown	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Prss23	T	C	7: 89,159,683 (GRCm39)	I129V	probably damaging	Het
Rhno1	T	C	6: 128,336,119 (GRCm39)	T39A	probably damaging	Het
Rps2	A	T	17: 24,940,810 (GRCm39)	R279*	probably null	Het
Ski	T	C	4: 155,244,344 (GRCm39)	K427R	probably damaging	Het
Slc23a3	ATT	ATTT	1: 75,109,925 (GRCm39)		probably null	Het
Slc26a7	C	T	4: 14,546,372 (GRCm39)	G319D	probably damaging	Het
Slc7a6os	A	G	8: 106,937,523 (GRCm39)	V8A	probably damaging	Het
Smim8	A	C	4: 34,771,265 (GRCm39)	I43S	probably damaging	Het
Sox5	T	C	6: 143,819,842 (GRCm39)	K400R	probably damaging	Het
Tab1	G	A	15: 80,032,943 (GRCm39)	V76M	probably damaging	Het
Taf2	A	C	15: 54,894,440 (GRCm39)		probably null	Het
Taf5	G	A	19: 47,059,434 (GRCm39)	V193M	probably damaging	Het
Tm2d1	A	T	4: 98,246,261 (GRCm39)	S180R	probably damaging	Het
Ttc12	A	G	9: 49,368,166 (GRCm39)	F287S	probably damaging	Het
Ubqln4	G	A	3: 88,473,185 (GRCm39)		probably null	Het
Ubr3	T	C	2: 69,839,497 (GRCm39)	V1537A	probably benign	Het
Vps26a	A	T	10: 62,316,433 (GRCm39)	N51K	probably benign	Het
Xkr5	T	A	8: 18,990,749 (GRCm39)	T173S	probably benign	Het
Zfp354c	A	G	11: 50,706,239 (GRCm39)	C279R	probably damaging	Het
Zfp65	T	A	13: 67,856,478 (GRCm39)	H267L	probably 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
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
R9666:Ugt8a	UTSW	3	125,708,957 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGGCGATCACAAATCCAC -3'
(R):5'- GCTGTTGGAATAGCAAGGGC -3'

Sequencing Primer
(F):5'- CATATCATTGGGGTCAACCAGTAGC -3'
(R):5'- GGGCTGCTAAAATCATCATTGTGC -3'

Posted On

2022-11-14