Mutagenetix > Incidental Mutation

Incidental Mutation 'R3009:Galc'

257464

Institutional Source

Beutler Lab

Gene Symbol

Galc

Ensembl Gene

ENSMUSG00000021003

Gene Name

galactosylceramidase

Synonyms

2310068B06Rik, Gacy, A930008M05Rik, galactocerebrosidase

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3009 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98168553-98225718 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98170228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 676 (D676G)

Ref Sequence

ENSEMBL: ENSMUSP00000021390 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021390]

AlphaFold

P54818

PDB Structure

STRUCTURE OF GALACTOCEREBROSIDASE FROM MOUSE [X-RAY DIFFRACTION]
STRUCTURE OF GALACTOCEREBROSIDASE FROM MOUSE IN COMPLEX WITH GALACTOSE [X-RAY DIFFRACTION]
STRUCTURE OF MOUSE GALACTOCEREBROSIDASE WITH 4NBDG: ENZYME-SUBSTRATE COMPLEX [X-RAY DIFFRACTION]
STRUCTURE OF MOUSE GALACTOCEREBROSIDASE WITH D-GALACTAL: ENZYME- INTERMEDIATE COMPLEX [X-RAY DIFFRACTION]
STRUCTURE OF MOUSE GALACTOCEREBROSIDASE WITH GALACTOSE: ENZYME- PRODUCT COMPLEX [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000021390
AA Change: D676G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021390
Gene: ENSMUSG00000021003
AA Change: D676G

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_59	17	684	N/A	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000221063
AA Change: D482G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222703

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes galactosylceramidase, the lysosomal hydryolase involved in the catabolism of galactosylceramide. Mutations in this gene result in slow growth, tremors and hind leg weakness, collectively termed as the 'twitcher' phenotype. In humans, deficiency of this gene product causes a lysosomal storage disorder known as Krabbe disease. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygotes for spontaneous and targeted mutations exhibit tremors, progressive weakness, wasting, both central and peripheral demyelination, massive accumulation of galactosylceramide, abnormal macrophages, and death by 4 months of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	A	G	10: 4,307,891 (GRCm39)	D1567G	probably benign	Het
Bmp3	T	C	5: 99,027,696 (GRCm39)	S439P	probably damaging	Het
Btnl2	C	T	17: 34,582,492 (GRCm39)	R353C	probably damaging	Het
Gpd2	C	T	2: 57,228,987 (GRCm39)	R264*	probably null	Het
Gprc6a	T	C	10: 51,504,392 (GRCm39)	T151A	probably benign	Het
Limk2	A	G	11: 3,309,046 (GRCm39)	I104T	probably benign	Het
Mei1	A	G	15: 81,996,726 (GRCm39)	H585R	probably damaging	Het
Mpp7	G	A	18: 7,461,678 (GRCm39)	P65L	possibly damaging	Het
Mtfr1	A	T	3: 19,269,750 (GRCm39)	T133S	probably benign	Het
Or12k8	T	C	2: 36,975,089 (GRCm39)	I224V	probably benign	Het
Or5h22	A	G	16: 58,895,350 (GRCm39)	V31A	probably benign	Het
Or6b13	T	C	7: 139,782,669 (GRCm39)	R5G	probably benign	Het
Or8k35	T	C	2: 86,424,714 (GRCm39)	T153A	probably benign	Het
Prkg1	G	A	19: 31,641,512 (GRCm39)	T57I	possibly damaging	Het
Sppl2c	C	T	11: 104,078,141 (GRCm39)	P314S	probably benign	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Urb1	A	G	16: 90,571,686 (GRCm39)	I1041T	probably benign	Het
Vmn2r72	A	T	7: 85,398,850 (GRCm39)	M501K	probably benign	Het
Vmn2r91	G	A	17: 18,325,717 (GRCm39)	V112I	probably benign	Het

Other mutations in Galc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Galc	APN	12	98,197,681 (GRCm39)	missense	probably benign
IGL01287:Galc	APN	12	98,212,503 (GRCm39)	unclassified	probably benign
IGL01618:Galc	APN	12	98,218,340 (GRCm39)	missense	possibly damaging	0.92
IGL02125:Galc	APN	12	98,197,768 (GRCm39)	missense	probably damaging	1.00
IGL02274:Galc	APN	12	98,220,473 (GRCm39)	nonsense	probably null
IGL02392:Galc	APN	12	98,173,672 (GRCm39)	missense	probably damaging	0.99
IGL02478:Galc	APN	12	98,179,391 (GRCm39)	missense	possibly damaging	0.96
IGL02544:Galc	APN	12	98,197,701 (GRCm39)	missense	probably benign	0.27
IGL03268:Galc	APN	12	98,188,852 (GRCm39)	splice site	probably benign
IGL03327:Galc	APN	12	98,173,735 (GRCm39)	splice site	probably benign
Crabby2	UTSW	12	98,200,525 (GRCm39)	missense	probably damaging	1.00
Krabbe	UTSW	12	98,188,906 (GRCm39)	missense	probably damaging	1.00
lobster	UTSW	12	98,212,514 (GRCm39)	missense	probably null	0.84
quake	UTSW	12	98,208,973 (GRCm39)	missense	probably damaging	1.00
teeter	UTSW	12	98,225,421 (GRCm39)	missense	probably damaging	1.00
R0218:Galc	UTSW	12	98,188,906 (GRCm39)	missense	probably damaging	1.00
R0240:Galc	UTSW	12	98,218,293 (GRCm39)	missense	probably damaging	1.00
R0240:Galc	UTSW	12	98,218,293 (GRCm39)	missense	probably damaging	1.00
R0467:Galc	UTSW	12	98,208,904 (GRCm39)	missense	probably damaging	1.00
R1619:Galc	UTSW	12	98,200,563 (GRCm39)	missense	probably benign	0.00
R1763:Galc	UTSW	12	98,200,525 (GRCm39)	missense	probably damaging	1.00
R1832:Galc	UTSW	12	98,200,499 (GRCm39)	critical splice donor site	probably null
R1844:Galc	UTSW	12	98,212,556 (GRCm39)	splice site	probably null
R1996:Galc	UTSW	12	98,218,285 (GRCm39)	missense	probably damaging	1.00
R2010:Galc	UTSW	12	98,220,489 (GRCm39)	missense	possibly damaging	0.51
R2097:Galc	UTSW	12	98,218,291 (GRCm39)	missense	probably benign
R2496:Galc	UTSW	12	98,193,540 (GRCm39)	missense	probably damaging	1.00
R2881:Galc	UTSW	12	98,179,355 (GRCm39)	missense	probably benign
R4571:Galc	UTSW	12	98,188,876 (GRCm39)	missense	probably benign	0.00
R4764:Galc	UTSW	12	98,209,003 (GRCm39)	missense	possibly damaging	0.78
R4851:Galc	UTSW	12	98,193,533 (GRCm39)	missense	probably benign	0.00
R4854:Galc	UTSW	12	98,223,136 (GRCm39)	missense	probably damaging	1.00
R4900:Galc	UTSW	12	98,197,731 (GRCm39)	missense	probably damaging	1.00
R4983:Galc	UTSW	12	98,209,027 (GRCm39)	nonsense	probably null
R5220:Galc	UTSW	12	98,197,672 (GRCm39)	splice site	probably null
R5273:Galc	UTSW	12	98,218,330 (GRCm39)	missense	probably damaging	1.00
R5495:Galc	UTSW	12	98,197,673 (GRCm39)	critical splice donor site	probably null
R5689:Galc	UTSW	12	98,179,245 (GRCm39)	missense	possibly damaging	0.94
R5819:Galc	UTSW	12	98,182,520 (GRCm39)	missense	probably benign	0.06
R6191:Galc	UTSW	12	98,218,293 (GRCm39)	missense	probably damaging	1.00
R6196:Galc	UTSW	12	98,225,421 (GRCm39)	missense	probably damaging	1.00
R6305:Galc	UTSW	12	98,225,549 (GRCm39)	missense	possibly damaging	0.57
R6335:Galc	UTSW	12	98,208,973 (GRCm39)	missense	probably damaging	1.00
R7255:Galc	UTSW	12	98,212,514 (GRCm39)	missense	probably null	0.84
R7496:Galc	UTSW	12	98,225,497 (GRCm39)	nonsense	probably null
R7704:Galc	UTSW	12	98,175,102 (GRCm39)	missense	probably benign
R8871:Galc	UTSW	12	98,212,543 (GRCm39)	missense	probably damaging	1.00
R9124:Galc	UTSW	12	98,220,423 (GRCm39)	critical splice donor site	probably null
R9140:Galc	UTSW	12	98,173,673 (GRCm39)	missense	probably null	0.55
R9211:Galc	UTSW	12	98,173,699 (GRCm39)	missense	probably benign	0.00
R9220:Galc	UTSW	12	98,220,523 (GRCm39)	missense	probably damaging	1.00
R9718:Galc	UTSW	12	98,225,573 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- AAGACTACCTGCATCCCCTCTG -3'
(R):5'- TCCCACTAAGTAGCTGAGGC -3'

Sequencing Primer
(F):5'- TCTGGAATCGGCTCTAAATAAACC -3'
(R):5'- TCCCACTAAGTAGCTGAGGCATATTC -3'

Posted On

2015-01-11