Mutagenetix > Incidental Mutation

Incidental Mutation 'R1996:Galc'

225773

Institutional Source

Beutler Lab

Gene Symbol

Galc

Ensembl Gene

ENSMUSG00000021003

Gene Name

galactosylceramidase

Synonyms

2310068B06Rik, Gacy, A930008M05Rik, galactocerebrosidase

MMRRC Submission

040006-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1996 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98168553-98225718 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98218285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 189 (D189G)

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: D189G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021390
Gene: ENSMUSG00000021003
AA Change: D189G

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

Meta Mutation Damage Score

0.7701

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

99% (84/85)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,646,556 (GRCm39)	W1069R	probably damaging	Het
Aaas	C	T	15: 102,248,494 (GRCm39)	V241I	probably benign	Het
Abca3	A	G	17: 24,606,506 (GRCm39)	E787G	probably damaging	Het
Abi3bp	A	T	16: 56,491,720 (GRCm39)	E582D	possibly damaging	Het
Adam21	A	G	12: 81,606,376 (GRCm39)	M462T	possibly damaging	Het
Alox12e	T	C	11: 70,207,034 (GRCm39)	T591A	probably benign	Het
Ankmy2	T	C	12: 36,243,796 (GRCm39)	M337T	probably benign	Het
Antxrl	A	G	14: 33,797,786 (GRCm39)	N587S	probably benign	Het
Apol6	T	A	15: 76,934,956 (GRCm39)	I75N	probably benign	Het
Atad2b	A	T	12: 5,040,883 (GRCm39)	H184L	probably benign	Het
Atf6b	A	T	17: 34,871,961 (GRCm39)		probably null	Het
B3gnt4	G	A	5: 123,649,402 (GRCm39)	V256I	probably damaging	Het
BC034090	C	T	1: 155,097,340 (GRCm39)		probably benign	Het
Bend4	C	A	5: 67,557,527 (GRCm39)	V430F	probably damaging	Het
Camkv	A	G	9: 107,824,320 (GRCm39)	D244G	probably damaging	Het
Caps2	T	A	10: 112,039,908 (GRCm39)	L450Q	probably damaging	Het
Ccr1	T	A	9: 123,763,551 (GRCm39)	K326N	probably benign	Het
Cep135	T	C	5: 76,780,113 (GRCm39)	I815T	probably benign	Het
Chchd4	A	G	6: 91,442,116 (GRCm39)	Y101H	probably damaging	Het
Copb1	G	C	7: 113,831,438 (GRCm39)	A570G	probably benign	Het
Cpsf2	C	A	12: 101,964,867 (GRCm39)	T505K	probably benign	Het
Cwf19l2	A	G	9: 3,417,947 (GRCm39)	R136G	probably benign	Het
Daxx	A	G	17: 34,132,585 (GRCm39)	T572A	possibly damaging	Het
Etaa1	C	A	11: 17,902,671 (GRCm39)	D89Y	probably damaging	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fchsd2	T	C	7: 100,927,660 (GRCm39)	F701L	probably benign	Het
Fstl5	A	T	3: 76,615,141 (GRCm39)	H734L	probably benign	Het
Gabbr1	T	A	17: 37,380,112 (GRCm39)	W584R	probably damaging	Het
Gm9979	T	C	13: 40,859,228 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 136,021,209 (GRCm39)	S31G	possibly damaging	Het
Gtf2ird1	T	C	5: 134,405,740 (GRCm39)		probably benign	Het
Hoxc4	T	C	15: 102,944,183 (GRCm39)	I187T	probably damaging	Het
Hsd3b6	A	T	3: 98,713,597 (GRCm39)	I234N	probably damaging	Het
Ifit3b	T	C	19: 34,588,877 (GRCm39)	C18R	probably damaging	Het
Igdcc4	T	A	9: 65,029,101 (GRCm39)	V246E	probably damaging	Het
Il1rap	A	T	16: 26,541,243 (GRCm39)	T495S	probably benign	Het
Kctd19	T	C	8: 106,121,932 (GRCm39)	E205G	probably null	Het
Kif21a	A	T	15: 90,878,574 (GRCm39)	C235*	probably null	Het
Krt16	A	T	11: 100,139,614 (GRCm39)	S35T	unknown	Het
Lamc2	T	C	1: 153,030,216 (GRCm39)	D142G	possibly damaging	Het
Larp4	G	T	15: 99,882,844 (GRCm39)	W22L	probably damaging	Het
Ldlrad1	C	T	4: 107,072,158 (GRCm39)	R127*	probably null	Het
Mamdc2	G	A	19: 23,341,289 (GRCm39)	Q229*	probably null	Het
Mbtd1	CT	CTT	11: 93,823,222 (GRCm39)		probably null	Het
Msln	T	A	17: 25,973,193 (GRCm39)	M1L	possibly damaging	Het
Mtch2	T	C	2: 90,677,665 (GRCm39)	V8A	possibly damaging	Het
Nav3	A	T	10: 109,689,262 (GRCm39)	N338K	probably damaging	Het
Or10x4	T	C	1: 174,218,983 (GRCm39)	M116T	probably damaging	Het
Or51a39	A	G	7: 102,362,999 (GRCm39)	L207P	probably damaging	Het
Or6c5	C	A	10: 129,074,298 (GRCm39)	N93K	possibly damaging	Het
Otof	A	G	5: 30,578,381 (GRCm39)	V89A	probably benign	Het
Phka2	T	C	X: 159,324,411 (GRCm39)	I255T	probably benign	Het
Pias2	T	C	18: 77,216,759 (GRCm39)		probably null	Het
Pja2	T	A	17: 64,594,639 (GRCm39)		probably null	Het
Plxnb2	C	T	15: 89,042,971 (GRCm39)	V1473I	probably benign	Het
Pnpt1	T	A	11: 29,091,679 (GRCm39)	D363E	probably benign	Het
Prdm5	A	G	6: 65,913,072 (GRCm39)	Y207C	probably damaging	Het
Rexo5	T	A	7: 119,423,080 (GRCm39)	V304E	probably damaging	Het
Robo1	G	T	16: 72,767,067 (GRCm39)	R413L	probably benign	Het
Rsf1	G	A	7: 97,313,839 (GRCm39)	E864K	probably damaging	Het
Scap	C	T	9: 110,202,039 (GRCm39)		probably benign	Het
Scn8a	T	A	15: 100,922,260 (GRCm39)	M1311K	probably damaging	Het
Slc28a2	A	T	2: 122,286,043 (GRCm39)	I460F	probably damaging	Het
Smco1	A	G	16: 32,092,730 (GRCm39)	R134G	probably benign	Het
Spopfm1	A	T	3: 94,173,018 (GRCm39)	M9L	probably benign	Het
Sspo	A	G	6: 48,452,424 (GRCm39)	E2651G	possibly damaging	Het
Stab2	T	C	10: 86,838,895 (GRCm39)	N57S	probably damaging	Het
Tenm3	C	A	8: 48,681,703 (GRCm39)	Q2642H	probably damaging	Het
Thsd7b	G	T	1: 129,686,188 (GRCm39)	E577*	probably null	Het
Tlr3	A	G	8: 45,850,734 (GRCm39)	V721A	probably benign	Het
Tnik	A	G	3: 28,719,829 (GRCm39)	I1226V	probably damaging	Het
Traf3	A	G	12: 111,227,095 (GRCm39)	K328E	probably benign	Het
Tyw1	T	A	5: 130,291,652 (GRCm39)		probably benign	Het
Vmn1r213	T	G	13: 23,196,473 (GRCm39)	V352G	probably benign	Het
Vmn2r111	T	C	17: 22,767,062 (GRCm39)	I812V	probably benign	Het
Vmn2r26	A	G	6: 124,038,144 (GRCm39)	N573S	probably damaging	Het
Vmn2r45	G	A	7: 8,475,024 (GRCm39)	T668I	probably damaging	Het
Zbtb20	T	A	16: 43,430,443 (GRCm39)	V318E	probably damaging	Het
Zc2hc1c	A	G	12: 85,343,434 (GRCm39)	R524G	probably benign	Het
Zc3h18	C	G	8: 123,134,126 (GRCm39)		probably benign	Het
Zfp618	T	C	4: 63,049,452 (GRCm39)		probably null	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
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
R3009:Galc	UTSW	12	98,170,228 (GRCm39)	missense	probably damaging	1.00
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'- ACCCTGTTATGGTGTTATGCAAC -3'
(R):5'- GCTGTCAGGATTAGTAAGAAATCTTGG -3'

Sequencing Primer
(F):5'- GCAACATGCAAAGAGTATTTCTATAC -3'
(R):5'- AGCCAGATTTATGCCTGCCTGG -3'

Posted On

2014-08-25