Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01618:Galc'

92474

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Galc

Ensembl Gene

ENSMUSG00000021003

Gene Name

galactosylceramidase

Synonyms

Gacy, A930008M05Rik, 2310068B06Rik, galactocerebrosidase

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01618

Quality Score

Status

Chromosome

Chromosomal Location

98202294-98259459 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98252081 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 171 (T171A)

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

possibly damaging
Transcript: ENSMUST00000021390
AA Change: T171A

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000021390
Gene: ENSMUSG00000021003
AA Change: T171A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221322

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222042

Coding Region Coverage

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	C	T	19: 55,272,833	A74V	probably benign	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aldh1a3	G	A	7: 66,409,230	T239I	probably damaging	Het
Anxa9	A	G	3: 95,300,536		probably null	Het
Atp5k	C	A	5: 108,434,033	K28N	probably damaging	Het
C9	T	G	15: 6,459,668	Y169D	probably benign	Het
Cbwd1	T	C	19: 24,940,776	E210G	possibly damaging	Het
Chat	T	A	14: 32,446,892		probably null	Het
Csmd3	C	T	15: 48,011,083	E706K	probably benign	Het
Ctbs	A	G	3: 146,455,112	K145E	probably benign	Het
Dennd5a	A	G	7: 109,934,095	M156T	probably damaging	Het
Dhx29	A	G	13: 112,965,222	Y1275C	probably damaging	Het
Dpp10	A	T	1: 123,367,867	F517Y	probably benign	Het
Dst	G	A	1: 34,188,909	W1536*	probably null	Het
Gsap	T	C	5: 21,226,248	I190T	probably damaging	Het
Hars2	A	T	18: 36,789,577	R388*	probably null	Het
Igsf21	C	T	4: 140,107,364	G66S	possibly damaging	Het
Itgbl1	T	A	14: 123,827,799	S122T	possibly damaging	Het
Jhy	G	T	9: 40,960,964	T83K	possibly damaging	Het
Kcne4	A	T	1: 78,817,808	M58L	possibly damaging	Het
Lamc3	T	A	2: 31,912,107	I509N	probably damaging	Het
Lpar6	T	C	14: 73,239,066	S156P	probably damaging	Het
Man2c1	T	C	9: 57,141,556		probably benign	Het
March11	T	C	15: 26,409,199	I328T	possibly damaging	Het
Mc3r	T	A	2: 172,249,370	C171S	probably benign	Het
Muc4	A	T	16: 32,756,627	Q2167L	unknown	Het
Myom1	T	C	17: 71,099,993	V1135A	possibly damaging	Het
Nectin1	C	T	9: 43,791,258	R101*	probably null	Het
Nxpe4	T	C	9: 48,394,140	S277P	possibly damaging	Het
Olfr1152	A	C	2: 87,868,144	D51A	probably damaging	Het
Olfr1459	T	A	19: 13,146,250	K136N	probably benign	Het
Olfr395	T	C	11: 73,907,477	N5S	probably damaging	Het
Olfr437	T	A	6: 43,167,703	V215E	probably damaging	Het
Olfr584	G	A	7: 103,086,375	V281I	probably benign	Het
Pappa2	G	T	1: 158,857,378	N730K	probably damaging	Het
Prepl	A	G	17: 85,066,281	V586A	probably damaging	Het
Prrc2a	T	C	17: 35,149,553	Y2098C	probably damaging	Het
Rdh16	G	A	10: 127,801,307	C37Y	probably damaging	Het
Rnd1	A	T	15: 98,673,865	M100K	probably benign	Het
Sema3c	A	G	5: 17,672,506	N204D	probably damaging	Het
Susd4	A	G	1: 182,858,461		probably null	Het
Taar7f	G	T	10: 24,050,341	A278S	possibly damaging	Het
Tle4	T	A	19: 14,544,814	M122L	probably benign	Het
Trim9	C	T	12: 70,248,351	V662I	probably benign	Het
Vmn2r10	C	A	5: 109,002,479	C233F	probably damaging	Het
Vmn2r98	A	C	17: 19,065,259	T114P	possibly damaging	Het
Zfyve21	C	T	12: 111,827,813		probably benign	Het

Other mutations in Galc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Galc	APN	12	98231422	missense	probably benign
IGL01287:Galc	APN	12	98246244	unclassified	probably benign
IGL02125:Galc	APN	12	98231509	missense	probably damaging	1.00
IGL02274:Galc	APN	12	98254214	nonsense	probably null
IGL02392:Galc	APN	12	98207413	missense	probably damaging	0.99
IGL02478:Galc	APN	12	98213132	missense	possibly damaging	0.96
IGL02544:Galc	APN	12	98231442	missense	probably benign	0.27
IGL03268:Galc	APN	12	98222593	splice site	probably benign
IGL03327:Galc	APN	12	98207476	splice site	probably benign
Crabby2	UTSW	12	98234266	missense	probably damaging	1.00
Krabbe	UTSW	12	98222647	missense	probably damaging	1.00
lobster	UTSW	12	98246255	missense	probably null	0.84
quake	UTSW	12	98242714	missense	probably damaging	1.00
teeter	UTSW	12	98259162	missense	probably damaging	1.00
R0218:Galc	UTSW	12	98222647	missense	probably damaging	1.00
R0240:Galc	UTSW	12	98252034	missense	probably damaging	1.00
R0240:Galc	UTSW	12	98252034	missense	probably damaging	1.00
R0467:Galc	UTSW	12	98242645	missense	probably damaging	1.00
R1619:Galc	UTSW	12	98234304	missense	probably benign	0.00
R1763:Galc	UTSW	12	98234266	missense	probably damaging	1.00
R1832:Galc	UTSW	12	98234240	critical splice donor site	probably null
R1844:Galc	UTSW	12	98246297	splice site	probably null
R1996:Galc	UTSW	12	98252026	missense	probably damaging	1.00
R2010:Galc	UTSW	12	98254230	missense	possibly damaging	0.51
R2097:Galc	UTSW	12	98252032	missense	probably benign
R2496:Galc	UTSW	12	98227281	missense	probably damaging	1.00
R2881:Galc	UTSW	12	98213096	missense	probably benign
R3009:Galc	UTSW	12	98203969	missense	probably damaging	1.00
R4571:Galc	UTSW	12	98222617	missense	probably benign	0.00
R4764:Galc	UTSW	12	98242744	missense	possibly damaging	0.78
R4851:Galc	UTSW	12	98227274	missense	probably benign	0.00
R4854:Galc	UTSW	12	98256877	missense	probably damaging	1.00
R4900:Galc	UTSW	12	98231472	missense	probably damaging	1.00
R4983:Galc	UTSW	12	98242768	nonsense	probably null
R5220:Galc	UTSW	12	98231413	splice site	probably null
R5273:Galc	UTSW	12	98252071	missense	probably damaging	1.00
R5495:Galc	UTSW	12	98231414	critical splice donor site	probably null
R5689:Galc	UTSW	12	98212986	missense	possibly damaging	0.94
R5819:Galc	UTSW	12	98216261	missense	probably benign	0.06
R6191:Galc	UTSW	12	98252034	missense	probably damaging	1.00
R6196:Galc	UTSW	12	98259162	missense	probably damaging	1.00
R6305:Galc	UTSW	12	98259290	missense	possibly damaging	0.57
R6335:Galc	UTSW	12	98242714	missense	probably damaging	1.00
R7255:Galc	UTSW	12	98246255	missense	probably null	0.84
R7496:Galc	UTSW	12	98259238	nonsense	probably null
R7704:Galc	UTSW	12	98208843	missense	probably benign
R8871:Galc	UTSW	12	98246284	missense	probably damaging	1.00
R9124:Galc	UTSW	12	98254164	critical splice donor site	probably null
R9140:Galc	UTSW	12	98207414	missense	probably null	0.55
R9211:Galc	UTSW	12	98207440	missense	probably benign	0.00
R9220:Galc	UTSW	12	98254264	missense	probably damaging	1.00
R9718:Galc	UTSW	12	98259314	missense

Posted On

2013-12-09