Mutagenetix > Incidental Mutation

Incidental Mutation 'R9211:Ugt8a'

698843

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 #

R9211 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125658920-125732268 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125661130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 454 (H454R)

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: H454R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050852
Gene: ENSMUSG00000032854
AA Change: H454R

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: H454R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143605
Gene: ENSMUSG00000032854
AA Change: H454R

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (86/87)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	T	1: 120,099,161 (GRCm39)	D85Y	possibly damaging	Het
Accs	T	C	2: 93,668,614 (GRCm39)	R315G	probably damaging	Het
Adam3	A	C	8: 25,177,910 (GRCm39)	W668G	probably benign	Het
Adgrb2	T	A	4: 129,886,199 (GRCm39)	V113E	probably benign	Het
Anapc4	C	T	5: 53,007,994 (GRCm39)	T391I	possibly damaging	Het
Angpt2	C	T	8: 18,748,078 (GRCm39)	G394D	probably benign	Het
Ankrd31	C	G	13: 97,029,551 (GRCm39)	L1662V	possibly damaging	Het
Ankrd36	A	G	11: 5,612,370 (GRCm39)	D1234G	possibly damaging	Het
Ankrd6	C	T	4: 32,806,580 (GRCm39)	V558M	probably damaging	Het
Ankrd61	T	A	5: 143,828,358 (GRCm39)	M206L	probably benign	Het
Arhgap33	C	T	7: 30,223,023 (GRCm39)	G970R	possibly damaging	Het
Atf7	A	G	15: 102,437,117 (GRCm39)	V115A	unknown	Het
Atp2c2	A	T	8: 120,446,032 (GRCm39)	R65S	probably benign	Het
Atp8b5	T	A	4: 43,367,960 (GRCm39)	M861K	probably damaging	Het
Bmi1	T	C	2: 18,689,152 (GRCm39)	S279P	probably benign	Het
Bptf	T	G	11: 106,946,124 (GRCm39)	S2372R	probably damaging	Het
Cacnb2	A	T	2: 14,879,308 (GRCm39)	I15L	unknown	Het
Card11	A	G	5: 140,869,375 (GRCm39)	M807T	probably benign	Het
Ccdc175	A	T	12: 72,153,458 (GRCm39)	D704E	probably damaging	Het
Cd300ld	T	A	11: 114,878,386 (GRCm39)	Y42F	probably damaging	Het
Cdh1	A	T	8: 107,390,962 (GRCm39)	T693S	probably benign	Het
Clca4b	T	C	3: 144,638,214 (GRCm39)	Y16C	possibly damaging	Het
Col4a4	A	G	1: 82,506,501 (GRCm39)	I273T	unknown	Het
Coro2b	C	A	9: 62,427,662 (GRCm39)	V9L	probably benign	Het
Crnkl1	T	C	2: 145,774,773 (GRCm39)	D55G	probably damaging	Het
Dcps	T	A	9: 35,035,872 (GRCm39)	N338I	probably damaging	Het
Dusp2	A	T	2: 127,179,311 (GRCm39)	H222L	probably benign	Het
Dync1li1	C	A	9: 114,518,012 (GRCm39)	Y21*	probably null	Het
Efhb	T	G	17: 53,756,507 (GRCm39)	Q381H	probably damaging	Het
Elac2	A	T	11: 64,869,864 (GRCm39)		probably benign	Het
Etaa1	A	G	11: 17,896,053 (GRCm39)	V688A	possibly damaging	Het
Fam120c	C	T	X: 150,127,495 (GRCm39)	H84Y	probably benign	Het
Fbxl7	T	A	15: 26,789,616 (GRCm39)	N37I	probably damaging	Het
Fndc3b	A	T	3: 27,523,086 (GRCm39)	W498R	probably damaging	Het
Galc	G	A	12: 98,173,699 (GRCm39)	A621V	probably benign	Het
Gch1	A	T	14: 47,426,519 (GRCm39)	I69N	probably damaging	Het
Gdpd4	T	C	7: 97,615,466 (GRCm39)	V97A	possibly damaging	Het
Hirip3	C	T	7: 126,463,567 (GRCm39)	R485*	probably null	Het
Hmgcs2	C	T	3: 98,204,748 (GRCm39)	T302I	possibly damaging	Het
Ing5	A	T	1: 93,740,409 (GRCm39)	K137I	possibly damaging	Het
Kcnh8	T	A	17: 53,146,236 (GRCm39)	Y375N	probably damaging	Het
Kdm3a	C	A	6: 71,573,674 (GRCm39)	W963L	probably benign	Het
Klra17	T	G	6: 129,842,651 (GRCm39)	I216L	possibly damaging	Het
Kmt2e	A	G	5: 23,669,770 (GRCm39)	K86E	possibly damaging	Het
Krt42	T	C	11: 100,155,867 (GRCm39)	N293S	possibly damaging	Het
Lrrc8d	T	A	5: 105,960,216 (GRCm39)	W209R	probably damaging	Het
Mettl23	C	T	11: 116,734,469 (GRCm39)	P13S	unknown	Het
Ncln	T	C	10: 81,323,527 (GRCm39)	Y540C	probably damaging	Het
Neb	C	G	2: 52,135,360 (GRCm39)	G3250A	probably damaging	Het
Nebl	A	G	2: 17,393,501 (GRCm39)		probably null	Het
Nqo2	A	T	13: 34,156,399 (GRCm39)	T38S	probably benign	Het
Obscn	A	T	11: 59,026,693 (GRCm39)	I170N	probably benign	Het
Or2bd2	G	T	7: 6,443,417 (GRCm39)	G173W	probably damaging	Het
Or4c100	A	G	2: 88,356,170 (GRCm39)	D81G	probably benign	Het
Or5af2	A	T	11: 58,708,709 (GRCm39)	N292Y	probably damaging	Het
Or5p6	C	T	7: 107,630,798 (GRCm39)	V251I	probably damaging	Het
Or7g28	T	A	9: 19,271,824 (GRCm39)	I276F	possibly damaging	Het
Or8k38	A	T	2: 86,488,024 (GRCm39)	Y259*	probably null	Het
Pacs1	A	T	19: 5,189,057 (GRCm39)	V775E	probably damaging	Het
Pheta2	A	T	15: 82,225,227 (GRCm39)		probably benign	Het
Pmfbp1	T	C	8: 110,262,445 (GRCm39)	I713T	probably benign	Het
Pnma8b	A	G	7: 16,679,589 (GRCm39)	D191G	unknown	Het
Polr1a	T	C	6: 71,943,521 (GRCm39)	I1252T	probably damaging	Het
Prss16	A	T	13: 22,192,754 (GRCm39)	M110K	probably benign	Het
Pygo2	T	C	3: 89,338,038 (GRCm39)		probably null	Het
Rab5b	C	A	10: 128,519,063 (GRCm39)		probably null	Het
Reln	G	T	5: 22,549,200 (GRCm39)	Y69*	probably null	Het
Rgs12	T	A	5: 35,123,165 (GRCm39)	M316K	probably damaging	Het
Rmi2	T	C	16: 10,657,743 (GRCm39)	C118R	possibly damaging	Het
Rnf223	T	A	4: 156,216,834 (GRCm39)	C70S	probably damaging	Het
Rxrb	T	A	17: 34,255,626 (GRCm39)	F371Y	probably damaging	Het
Smurf2	T	A	11: 106,759,463 (GRCm39)	S78C	probably damaging	Het
Sorbs1	A	T	19: 40,332,798 (GRCm39)		probably null	Het
Spag17	C	T	3: 100,032,614 (GRCm39)		probably benign	Het
Spidr	T	C	16: 15,871,319 (GRCm39)	H217R	probably benign	Het
Tiam2	T	G	17: 3,498,729 (GRCm39)	V835G	possibly damaging	Het
Tm2d2	C	T	8: 25,510,548 (GRCm39)	R136*	probably null	Het
Tnks	C	T	8: 35,316,489 (GRCm39)	D877N	probably damaging	Het
Tns1	A	G	1: 73,956,948 (GRCm39)	L491P	possibly damaging	Het
Trps1	A	G	15: 50,694,840 (GRCm39)	I485T	probably damaging	Het
Tubgcp5	A	G	7: 55,456,331 (GRCm39)	S308G	probably benign	Het
Usp32	G	T	11: 84,913,559 (GRCm39)	T924K	probably damaging	Het
Vmn2r91	A	T	17: 18,356,819 (GRCm39)	K829*	probably null	Het
Zfc3h1	T	C	10: 115,248,328 (GRCm39)	F1146L	possibly damaging	Het
Zfp729a	G	T	13: 67,767,820 (GRCm39)	A803E	probably benign	Het
Zfp990	A	G	4: 145,264,171 (GRCm39)	T390A	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
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'- GTAATGTCCATTAACTGTGCTATGC -3'
(R):5'- GCACCCTTACATGCTTAAAGAGG -3'

Sequencing Primer
(F):5'- AACTGTGCTATGCTCATTTTTAGACC -3'
(R):5'- CCCTTACATGCTTAAAGAGGAATATC -3'

Posted On

2022-02-07