Mutagenetix > Incidental Mutation

Incidental Mutation 'R4900:Galc'

376112

Institutional Source

Beutler Lab

Gene Symbol

Galc

Ensembl Gene

ENSMUSG00000021003

Gene Name

galactosylceramidase

Synonyms

2310068B06Rik, Gacy, A930008M05Rik, galactocerebrosidase

MMRRC Submission

042504-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4900 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98168553-98225718 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 98197731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 326 (T326K)

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: T326K

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

SMART Domains

Protein: ENSMUSP00000021390
Gene: ENSMUSG00000021003
AA Change: T326K

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

Predicted Effect

unknown
Transcript: ENSMUST00000221063
AA Change: T132K

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222379

Meta Mutation Damage Score

0.9168

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

100% (84/84)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,895,091 (GRCm39)	V262A	probably benign	Het
Abtb2	A	G	2: 103,397,349 (GRCm39)	E93G	possibly damaging	Het
Adam5	A	C	8: 25,232,172 (GRCm39)		probably null	Het
Adam5	G	A	8: 25,271,619 (GRCm39)	T596I	probably damaging	Het
Adgrb2	T	A	4: 129,907,668 (GRCm39)	Y1001N	probably damaging	Het
Aox1	T	G	1: 58,344,544 (GRCm39)	S546A	probably benign	Het
Asic2	T	C	11: 81,464,280 (GRCm39)		probably benign	Het
Bcl11b	T	A	12: 107,955,957 (GRCm39)	N64I	probably damaging	Het
Cacna1g	A	G	11: 94,350,177 (GRCm39)	F556S	possibly damaging	Het
Cbl	A	G	9: 44,064,166 (GRCm39)	V790A	probably benign	Het
Cd300c2	A	T	11: 114,891,807 (GRCm39)	C22*	probably null	Het
Cdh11	C	T	8: 103,374,090 (GRCm39)		probably null	Het
Ces2g	C	T	8: 105,693,989 (GRCm39)	Q442*	probably null	Het
Cps1	A	T	1: 67,200,063 (GRCm39)	T404S	probably damaging	Het
Csf2rb2	A	T	15: 78,170,174 (GRCm39)		probably null	Het
Csmd2	A	G	4: 128,346,318 (GRCm39)	Y1526C	probably benign	Het
Cyp2a12	C	T	7: 26,730,640 (GRCm39)	Q202*	probably null	Het
Cyp2c39	G	A	19: 39,502,020 (GRCm39)	M136I	probably benign	Het
Cyp2j13	G	A	4: 95,947,280 (GRCm39)	T257I	probably damaging	Het
Dnah8	T	A	17: 30,965,949 (GRCm39)	L2427Q	probably damaging	Het
Dop1b	G	T	16: 93,560,318 (GRCm39)		probably null	Het
Entrep1	A	G	19: 23,952,790 (GRCm39)	S507P	possibly damaging	Het
Epcam	T	C	17: 87,951,049 (GRCm39)	V212A	possibly damaging	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Flvcr2	T	A	12: 85,829,756 (GRCm39)	V255D	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gen1	A	T	12: 11,291,561 (GRCm39)	Y808N	probably benign	Het
Glis1	C	T	4: 107,476,761 (GRCm39)	A306V	probably damaging	Het
Gm10638	A	G	8: 87,473,028 (GRCm39)		probably benign	Het
Gm12789	G	A	4: 101,846,182 (GRCm39)		probably benign	Het
Gm27048	C	T	8: 81,661,228 (GRCm39)		noncoding transcript	Het
Gm4204	T	C	1: 135,160,556 (GRCm39)		noncoding transcript	Het
Gm904	A	T	13: 50,799,325 (GRCm39)	I95F	possibly damaging	Het
Gvin3	T	G	7: 106,197,793 (GRCm39)		noncoding transcript	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ints11	G	A	4: 155,972,887 (GRCm39)	D526N	probably benign	Het
Itfg2	A	G	6: 128,393,279 (GRCm39)		probably benign	Het
Jund	T	C	8: 71,152,254 (GRCm39)	V183A	probably damaging	Het
Kcnj8	A	G	6: 142,512,221 (GRCm39)	S129P	probably damaging	Het
Kcnq3	A	G	15: 65,867,259 (GRCm39)	S795P	probably damaging	Het
Lhx8	G	T	3: 154,035,925 (GRCm39)	A22E	probably benign	Het
Lrp8	A	G	4: 107,664,006 (GRCm39)		probably benign	Het
Lvrn	G	T	18: 47,026,768 (GRCm39)	A789S	probably damaging	Het
Lvrn	T	C	18: 47,014,479 (GRCm39)	S526P	probably damaging	Het
Mga	T	A	2: 119,794,535 (GRCm39)	C2622S	possibly damaging	Het
Mroh8	T	C	2: 157,070,647 (GRCm39)	E568G	probably benign	Het
Ms4a4b	C	A	19: 11,440,503 (GRCm39)		probably benign	Het
Muc2	T	C	7: 141,303,280 (GRCm39)	F99S	probably benign	Het
Myo5c	T	A	9: 75,180,825 (GRCm39)	I738N	probably damaging	Het
Naip6	A	C	13: 100,433,477 (GRCm39)	V1120G	probably damaging	Het
Ncl	T	C	1: 86,283,901 (GRCm39)	T307A	probably benign	Het
Npr1	A	T	3: 90,363,272 (GRCm39)	D869E	possibly damaging	Het
Nup93	A	G	8: 95,013,231 (GRCm39)	T36A	probably benign	Het
Olfml2b	C	A	1: 170,489,947 (GRCm39)	T189N	probably damaging	Het
Or4c12b	A	G	2: 89,647,312 (GRCm39)	N208S	possibly damaging	Het
Or8b9	T	C	9: 37,766,608 (GRCm39)	F165L	probably benign	Het
P4htm	A	C	9: 108,456,427 (GRCm39)	W458G	probably damaging	Het
Pdzrn4	G	T	15: 92,668,638 (GRCm39)	R930L	probably damaging	Het
Pgam5	G	A	5: 110,408,301 (GRCm39)	A240V	probably damaging	Het
Prex2	T	C	1: 11,220,129 (GRCm39)		probably benign	Het
Ptpru	T	G	4: 131,515,693 (GRCm39)	E897A	probably damaging	Het
Rapgef2	A	T	3: 78,981,670 (GRCm39)	N1256K	probably benign	Het
Rhbdl3	A	G	11: 80,210,439 (GRCm39)	E64G	probably benign	Het
Sel1l3	A	T	5: 53,289,184 (GRCm39)	L879Q	probably damaging	Het
Siah1a	G	T	8: 87,451,703 (GRCm39)	D260E	probably benign	Het
Skint6	T	C	4: 112,924,667 (GRCm39)	I522V	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Smok3c	T	C	5: 138,062,813 (GRCm39)	I100T	probably damaging	Het
Snx24	C	A	18: 53,518,295 (GRCm39)	Y141*	probably null	Het
Tigit	A	G	16: 43,469,594 (GRCm39)	S166P	probably damaging	Het
Tmem183a	C	T	1: 134,275,904 (GRCm39)	R324Q	probably benign	Het
Tmie	T	C	9: 110,696,001 (GRCm39)	D130G	possibly damaging	Het
Uggt1	G	A	1: 36,241,936 (GRCm39)	R333*	probably null	Het
Vmn2r111	T	C	17: 22,767,637 (GRCm39)	N620S	possibly damaging	Het
Vmn2r12	T	A	5: 109,240,852 (GRCm39)	N87I	probably damaging	Het
Vmn2r92	A	G	17: 18,404,605 (GRCm39)	D583G	probably benign	Het
Zdhhc17	T	C	10: 110,821,819 (GRCm39)	D60G	possibly damaging	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
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
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'- GGCAGAACTCCCTTAAAATAGTCAC -3'
(R):5'- CGTTTGGATGAACAATGAACTGG -3'

Sequencing Primer
(F):5'- GTCACACTCTTTAAGCACAGATAG -3'
(R):5'- CAATTGCTTGGAATTTGGTG -3'

Posted On

2016-03-17