Mutagenetix > Incidental Mutation

Incidental Mutation 'R7496:Galc'

581089

Institutional Source

Beutler Lab

Gene Symbol

Galc

Ensembl Gene

ENSMUSG00000021003

Gene Name

galactosylceramidase

Synonyms

Gacy, A930008M05Rik, 2310068B06Rik, galactocerebrosidase

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7496 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98202294-98259459 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 98259238 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 31 (L31*)

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 null
Transcript: ENSMUST00000021390
AA Change: L31*

SMART Domains

Protein: ENSMUSP00000021390
Gene: ENSMUSG00000021003
AA Change: L31*

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

Meta Mutation Damage Score

0.9503

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (50/50)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	T	C	16: 56,732,857	I626V	probably benign	Het
Adgrv1	A	T	13: 81,440,225	V4414E	possibly damaging	Het
Ago1	C	T	4: 126,461,752	R88H	probably benign	Het
Ankrd6	C	T	4: 32,810,299	D461N	probably damaging	Het
Bcl2l14	A	G	6: 134,427,454	N202D	probably benign	Het
Bnip2	A	G	9: 70,003,404	I245V	probably damaging	Het
Cdhr3	T	C	12: 33,060,265	D340G	probably damaging	Het
Dchs1	T	C	7: 105,761,859	E1653G	probably damaging	Het
Dhdds	C	A	4: 133,971,254	Q256H	possibly damaging	Het
Dsc2	A	T	18: 20,035,394	C669*	probably null	Het
Dync2h1	T	C	9: 7,135,015		probably null	Het
Dysf	T	C	6: 84,067,478	S276P	probably benign	Het
Gm527	C	T	12: 64,922,410	R204C	possibly damaging	Het
Hivep3	G	A	4: 120,132,402	D2017N	probably benign	Het
Inf2	C	T	12: 112,600,318	R106C	probably damaging	Het
Itgb1	A	G	8: 128,720,305	K434E	probably benign	Het
Lamb1	A	C	12: 31,300,021	N700T	probably benign	Het
Macc1	T	G	12: 119,446,999	F501V	possibly damaging	Het
Man2a2	G	A	7: 80,352,997	H1079Y	probably damaging	Het
Nedd4l	G	A	18: 65,080,018	V82I	possibly damaging	Het
Nr2f1	T	C	13: 78,195,242	E301G	probably damaging	Het
Olfr1129	A	G	2: 87,575,371	R96G	probably damaging	Het
Olfr1246	T	C	2: 89,590,696	I140V	probably benign	Het
Olfr695	A	G	7: 106,714,228	L151P	probably benign	Het
Pdgfrb	G	A	18: 61,078,932	V844I	possibly damaging	Het
Pkd1l2	T	C	8: 117,060,594	E570G	possibly damaging	Het
R3hdm4	A	T	10: 79,916,874	L4Q	probably damaging	Het
Rb1cc1	A	G	1: 6,248,191	K639R	probably null	Het
Robo3	A	T	9: 37,427,825	C257S	probably damaging	Het
Rprd2	A	T	3: 95,765,775	L772Q	probably damaging	Het
Sall2	T	C	14: 52,315,561	D59G	possibly damaging	Het
Sall3	T	C	18: 80,973,364	T450A	probably benign	Het
Sdhd	T	C	9: 50,597,085	*160W	probably null	Het
Sgca	T	C	11: 94,971,244	E194G	possibly damaging	Het
Shtn1	G	A	19: 59,028,184	R228C	probably damaging	Het
Skor1	A	T	9: 63,146,850	S22T	probably benign	Het
Slc26a8	C	A	17: 28,644,850	G645V	probably benign	Het
Smtn	T	C	11: 3,529,988	E411G	probably damaging	Het
Sox17	A	G	1: 4,492,327	Y217H	probably damaging	Het
Syk	A	G	13: 52,612,416	Q179R	probably benign	Het
Tpp2	A	G	1: 43,983,517	I959M	probably benign	Het
Trim65	T	A	11: 116,126,316	N440I	probably damaging	Het
Ubr2	C	T	17: 46,990,991		probably null	Het
Ush2a	T	C	1: 188,351,087	S276P	possibly damaging	Het
Vmn1r61	A	G	7: 5,610,431	S295P	probably benign	Het
Wdhd1	T	C	14: 47,274,024	Q77R	probably benign	Het
Xylb	T	A	9: 119,391,816	*552R	probably null	Het
Zfp932	C	T	5: 110,008,828	P131S	probably damaging	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
IGL01618:Galc	APN	12	98252081	missense	possibly damaging	0.92
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
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

Predicted Primers

PCR Primer
(F):5'- ATTGCAATCTAACCGCCAGC -3'
(R):5'- CCCTCACTTAAGATGGCGAAAG -3'

Sequencing Primer
(F):5'- AGCCCGGGTTCATCTCAC -3'
(R):5'- ATGGCTAACAGCCAACCT -3'

Posted On

2019-10-17