Mutagenetix > Incidental Mutations

Incidental Mutation 'R7255:Galc'

564219

Institutional Source

Beutler Lab

Gene Symbol

Galc

Ensembl Gene

ENSMUSG00000021003

Gene Name

galactosylceramidase

Synonyms

Gacy, A930008M05Rik, 2310068B06Rik, galactocerebrosidase

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98202294-98259459 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98246255 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 207 (K207R)

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: K207R

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021390
Gene: ENSMUSG00000021003
AA Change: K207R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000221063

Meta Mutation Damage Score

0.4439

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (66/68)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	G	A	11: 23,620,465	P145L	probably benign	Het
9530003J23Rik	T	C	10: 117,234,422	H150R	probably benign	Het
Aldh1a7	A	G	19: 20,714,728	S234P	probably damaging	Het
Arhgap28	T	C	17: 67,853,004	H650R	probably damaging	Het
Asic1	A	G	15: 99,697,457	D355G	probably damaging	Het
Atp8b1	T	A	18: 64,556,868	S598C	probably damaging	Het
Bcat1	C	A	6: 145,032,785	E237*	probably null	Het
Btbd16	A	T	7: 130,785,992	I114F	probably benign	Het
Casp2	A	G	6: 42,268,907	D166G	probably damaging	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Cpsf1	G	A	15: 76,597,543	T1099M	probably damaging	Het
Crisp4	C	A	1: 18,130,231	A116S	probably damaging	Het
Cyb5r3	A	G	15: 83,160,165	I168T	probably damaging	Het
Dip2b	G	A	15: 100,209,627	D1407N	probably benign	Het
Dnajc8	A	G	4: 132,551,573	K201R	probably benign	Het
Dock10	C	T	1: 80,543,099		probably null	Het
Dopey2	C	A	16: 93,770,146	H1272N	probably damaging	Het
Dsc1	C	T	18: 20,097,273	R325Q	probably benign	Het
Enpp1	A	T	10: 24,645,315	I838K	possibly damaging	Het
Fcna	T	G	2: 25,626,028	D159A	probably damaging	Het
Flnc	G	T	6: 29,445,766	G840C	probably damaging	Het
Flt1	C	T	5: 147,580,406	A1024T	probably damaging	Het
Gbp2b	T	A	3: 142,608,117	L386Q	probably damaging	Het
Gm8297	T	A	14: 4,984,874	N48K	probably damaging	Het
Gm9639	G	A	10: 77,794,538	P180L	unknown	Het
Inpp5a	A	G	7: 139,511,448	N116S	probably damaging	Het
Ipo9	T	C	1: 135,385,988	E984G	probably benign	Het
Klra4	A	G	6: 130,059,642	F145L	probably damaging	Het
Lag3	A	G	6: 124,910,235	L123P	probably benign	Het
Med7	T	A	11: 46,440,995	M139K	probably damaging	Het
Mfsd2a	A	C	4: 122,952,021	L153R	possibly damaging	Het
Mup9	A	G	4: 60,421,337	V71A	probably benign	Het
Myo16	A	T	8: 10,499,169	Q927L	unknown	Het
Myo9b	T	C	8: 71,290,891	Y199H	probably damaging	Het
Nefm	A	G	14: 68,116,000	F406L	probably benign	Het
Olfr1123	T	A	2: 87,418,942	L296Q	probably damaging	Het
Olfr1333	A	T	4: 118,829,952	F162I	probably benign	Het
Pamr1	T	C	2: 102,611,584	F173L	probably damaging	Het
Pds5b	T	A	5: 150,796,667	D1205E	probably benign	Het
Plxna2	T	G	1: 194,752,103	F646V	probably benign	Het
Pnrc1	C	T	4: 33,248,045	G118D	probably benign	Het
Ppp1r16b	T	C	2: 158,761,391	F412S	probably benign	Het
Prcc	A	T	3: 87,870,091	V192E	probably damaging	Het
Psg19	A	G	7: 18,794,048	Y257H	probably benign	Het
Rfx7	T	G	9: 72,619,828	S1433R	possibly damaging	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Sbspon	G	T	1: 15,883,797	C86*	probably null	Het
Sdhb	A	G	4: 140,977,418	E230G	possibly damaging	Het
Sema6b	T	C	17: 56,125,336	T581A	probably benign	Het
Shkbp1	G	T	7: 27,342,748	T594K	possibly damaging	Het
Shpk	A	G	11: 73,199,660	S48G	probably benign	Het
Slc1a3	A	G	15: 8,642,999	V332A	possibly damaging	Het
Slc25a25	T	C	2: 32,421,372	E135G	possibly damaging	Het
Slc5a8	A	T	10: 88,909,631	D367V	probably damaging	Het
Slco1c1	A	G	6: 141,569,325	T649A	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spats1	T	A	17: 45,454,205	D163V	probably damaging	Het
Ssh2	T	A	11: 77,425,593	M304K	probably damaging	Het
Sulf1	T	A	1: 12,859,008	D166E	probably benign	Het
Syne1	A	G	10: 5,333,446	S1540P	probably damaging	Het
Tcf7l1	A	T	6: 72,627,347		probably null	Het
Tet1	A	T	10: 62,822,636	M1477K	probably benign	Het
Tlr5	T	C	1: 182,974,316	F395S	probably damaging	Het
Trrap	T	C	5: 144,858,954	L3847P	probably damaging	Het
Tsks	C	T	7: 44,952,688	S276L	probably benign	Het
Uggt1	T	C	1: 36,146,106	E1519G	probably damaging	Het
Vps13a	A	G	19: 16,654,339		probably null	Het
Wdfy4	A	G	14: 32,974,282	V2768A		Het
Wdr26	A	C	1: 181,181,324	I627R	probably benign	Het
Zfp160	T	A	17: 21,025,487	S100T	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
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
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

Predicted Primers

PCR Primer
(F):5'- GAATTCCACTGTTAGCCAAACCC -3'
(R):5'- CTACAGTGTGCAGGGAATGACTG -3'

Sequencing Primer
(F):5'- GCCATTCAGGACCTATGAAGAATTAC -3'
(R):5'- AGCACCGAGTGCTCTTCATG -3'

Posted On

2019-06-26