Mutagenetix > Incidental Mutations

Incidental Mutation 'R1770:Ugt8a'

196471

Institutional Source

Beutler Lab

Gene Symbol

Ugt8a

Ensembl Gene

ENSMUSG00000032854

Gene Name

UDP galactosyltransferase 8A

Synonyms

mCerGT, Cgt, Ugt8

MMRRC Submission

039801-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.710) question?

Stock #

R1770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125865271-125938619 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125874203 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 330 (N330D)

Ref Sequence

ENSEMBL: ENSMUSP00000143605 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000057944
AA Change: N330D

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000050852
Gene: ENSMUSG00000032854
AA Change: N330D

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 benign
Transcript: ENSMUST00000198610
AA Change: N330D

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000143605
Gene: ENSMUSG00000032854
AA Change: N330D

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

0.1039

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

92% (69/75)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	T	5: 9,418,021	T230S	probably benign	Het
Abcd4	T	C	12: 84,615,100	T84A	probably benign	Het
Adgra1	T	A	7: 139,874,031	Y161*	probably null	Het
Aldoart1	G	T	4: 72,851,936	H212N	probably benign	Het
Aldob	A	G	4: 49,536,861	Y343H	probably damaging	Het
Ankrd17	A	T	5: 90,243,376	V2036E	possibly damaging	Het
Ass1	A	G	2: 31,486,516	T131A	probably benign	Het
Baz1a	C	T	12: 54,898,508	R1354H	probably damaging	Het
C2cd2l	A	G	9: 44,316,811	V71A	probably benign	Het
C4b	T	A	17: 34,736,927	N678I	possibly damaging	Het
Carmil1	A	G	13: 24,173,674	L64P	probably damaging	Het
Cdh18	T	C	15: 23,474,401	S786P	probably benign	Het
Cep135	A	G	5: 76,603,195	E296G	possibly damaging	Het
Chml	G	A	1: 175,687,878	T159I	probably benign	Het
Cntn3	C	T	6: 102,269,205	E328K	possibly damaging	Het
Cstf1	A	G	2: 172,373,063	I35V	possibly damaging	Het
Cyp2c65	A	G	19: 39,082,198	K275R	probably benign	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dbx2	T	C	15: 95,624,734	E364G	probably benign	Het
Dcaf13	A	T	15: 39,130,238	N242I	probably damaging	Het
Dcc	A	G	18: 71,446,399	V701A	probably benign	Het
Fastkd5	A	T	2: 130,614,280	Y797N	probably damaging	Het
Fat4	T	A	3: 39,010,268	I4791K	probably damaging	Het
Gm3852	T	C	1: 46,011,888	I45V	possibly damaging	Het
Gng4	A	G	13: 13,825,266	D40G	probably damaging	Het
Gns	A	G	10: 121,378,047	D209G	probably benign	Het
Kif6	C	A	17: 49,903,649	Q791K	possibly damaging	Het
Klhl35	G	A	7: 99,473,875	V569M	possibly damaging	Het
Krt2	A	G	15: 101,811,154	S694P	unknown	Het
Lrrc8c	A	G	5: 105,606,737	Y126C	probably damaging	Het
Mad2l1bp	A	G	17: 46,152,912	V62A	probably benign	Het
Map1b	T	C	13: 99,430,493	R1907G	unknown	Het
Mertk	A	G	2: 128,750,174	I273V	probably benign	Het
Mfsd4b1	A	G	10: 40,003,227	Y225H	probably damaging	Het
Mrc2	T	C	11: 105,338,793	V684A	probably damaging	Het
Msh6	G	A	17: 87,980,223	W97*	probably null	Het
Mtmr10	A	G	7: 64,336,721	I516V	possibly damaging	Het
Myo7a	A	T	7: 98,112,606		probably benign	Het
Ndufs5	T	C	4: 123,712,868	Y92C	probably benign	Het
Nlrp1b	C	T	11: 71,160,153	V1035I	probably benign	Het
Ntrk2	A	G	13: 58,861,318	R308G	possibly damaging	Het
Olfr1148	A	G	2: 87,833,299	I87V	probably benign	Het
Pcdhb16	G	T	18: 37,479,180	G398W	probably damaging	Het
Plpbp	T	A	8: 27,053,298	S237T	probably damaging	Het
Pnpla6	T	A	8: 3,534,634	F769I	possibly damaging	Het
Polk	A	G	13: 96,495,442	V261A	probably damaging	Het
Prss52	C	T	14: 64,113,633	A289V	probably damaging	Het
Puf60	T	C	15: 76,070,874	K407E	probably benign	Het
Pzp	T	C	6: 128,485,617	D1455G	probably damaging	Het
Ranbp17	T	C	11: 33,217,301	N1054S	probably benign	Het
Sdk2	A	G	11: 113,793,741	S1965P	probably benign	Het
Spryd7	T	C	14: 61,540,205	Y142C	probably damaging	Het
Srrt	A	T	5: 137,299,860		probably benign	Het
Stk10	A	G	11: 32,622,464	E935G	possibly damaging	Het
Tas2r115	G	A	6: 132,737,971	R6C	probably damaging	Het
Tdrd7	T	A	4: 45,987,681		probably benign	Het
Trim29	A	T	9: 43,332,376	Q564L	probably damaging	Het
Trim5	T	C	7: 104,276,661	D231G	probably damaging	Het
Trpv2	A	G	11: 62,596,961	K676E	probably benign	Het
Ttn	T	C	2: 76,753,515	R22383G	probably damaging	Het
Ugt1a2	A	G	1: 88,201,438	I268V	probably benign	Het
Utrn	G	A	10: 12,475,296	H2822Y	probably damaging	Het
Vmn1r176	G	A	7: 23,835,521	A69V	probably benign	Het
Vmn2r106	T	C	17: 20,268,298	Y613C	probably damaging	Het
Wdfy1	A	T	1: 79,709,140	W296R	probably damaging	Het
Zfp11	G	A	5: 129,657,758	T213I	possibly damaging	Het
Zfp142	A	T	1: 74,579,631	F193I	probably damaging	Het
Zfp764	G	A	7: 127,405,567	Q131*	probably null	Het

Other mutations in Ugt8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Ugt8a	APN	3	125914636	critical splice donor site	probably null
IGL01934:Ugt8a	APN	3	125914775	missense	probably benign	0.18
IGL02435:Ugt8a	APN	3	125867320	missense	probably benign	0.00
IGL03050:Ugt8a	UTSW	3	125875490	missense	possibly damaging	0.63
R0041:Ugt8a	UTSW	3	125915090	missense	probably benign	0.00
R0453:Ugt8a	UTSW	3	125914957	missense	probably benign	0.03
R1314:Ugt8a	UTSW	3	125871748	missense	probably benign	0.00
R1544:Ugt8a	UTSW	3	125915449	missense	probably benign	0.06
R1566:Ugt8a	UTSW	3	125875558	missense	probably damaging	0.96
R2126:Ugt8a	UTSW	3	125875546	missense	probably damaging	0.98
R2972:Ugt8a	UTSW	3	125915308	missense	probably benign
R2973:Ugt8a	UTSW	3	125915308	missense	probably benign
R3547:Ugt8a	UTSW	3	125867382	nonsense	probably null
R3906:Ugt8a	UTSW	3	125914982	missense	possibly damaging	0.95
R3907:Ugt8a	UTSW	3	125914982	missense	possibly damaging	0.95
R4032:Ugt8a	UTSW	3	125874158	missense	probably damaging	1.00
R5235:Ugt8a	UTSW	3	125867480	missense	probably damaging	1.00
R5890:Ugt8a	UTSW	3	125875553	missense	probably benign	0.01
R6790:Ugt8a	UTSW	3	125871691	missense	possibly damaging	0.93
R6937:Ugt8a	UTSW	3	125915601	start gained	probably benign
R7298:Ugt8a	UTSW	3	125915416	missense	probably benign	0.30
R8730:Ugt8a	UTSW	3	125938456	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTGCTCAGGTCAACAACTTTCTTTTCA -3'
(R):5'- AGCAAATATTCATTTGGGTCCCCACATC -3'

Sequencing Primer
(F):5'- CTGGATCAGTACTCTGAATTTTGAG -3'
(R):5'- TTGGGTCCCCACATCTACAATAATAG -3'

Posted On

2014-05-23