Incidental Mutation 'R4571:Galc'
ID 342156
Institutional Source Beutler Lab
Gene Symbol Galc
Ensembl Gene ENSMUSG00000021003
Gene Name galactosylceramidase
Synonyms 2310068B06Rik, Gacy, A930008M05Rik, galactocerebrosidase
MMRRC Submission 041795-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4571 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 98168553-98225718 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98188876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 412 (T412A)
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 benign
Transcript: ENSMUST00000021390
AA Change: T412A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000021390
Gene: ENSMUSG00000021003
AA Change: T412A

DomainStartEndE-ValueType
Pfam:Glyco_hydro_59 17 684 N/A PFAM
Predicted Effect unknown
Transcript: ENSMUST00000221063
AA Change: T218A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222042
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (69/69)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,920,884 (GRCm39) C1497S probably damaging Het
Acoxl G T 2: 127,719,727 (GRCm39) G163W probably damaging Het
Apbb1 T A 7: 105,222,969 (GRCm39) N214I probably damaging Het
Apol7b T C 15: 77,307,734 (GRCm39) K254E probably benign Het
Arl4d T A 11: 101,557,969 (GRCm39) V165E possibly damaging Het
Brca1 C A 11: 101,408,192 (GRCm39) R1377L probably benign Het
Btf3 A G 13: 98,449,792 (GRCm39) F65L probably benign Het
C2 T C 17: 35,082,635 (GRCm39) N495D probably benign Het
Cacna1c T C 6: 118,607,341 (GRCm39) T1188A probably benign Het
Chd7 C A 4: 8,866,217 (GRCm39) D796E probably benign Het
Clasp2 G T 9: 113,676,789 (GRCm39) L173F probably damaging Het
Clec4g A T 8: 3,768,766 (GRCm39) probably null Het
Col9a3 T C 2: 180,258,159 (GRCm39) probably benign Het
Csmd2 T A 4: 128,373,888 (GRCm39) probably null Het
Ddx11 T C 17: 66,437,768 (GRCm39) C165R probably benign Het
Dnah7c A C 1: 46,572,376 (GRCm39) M950L probably damaging Het
Dusp23 A C 1: 172,460,181 (GRCm39) probably null Het
Ebag9 A T 15: 44,500,158 (GRCm39) probably null Het
Edn3 G A 2: 174,623,697 (GRCm39) A211T probably benign Het
Eif3e G A 15: 43,129,558 (GRCm39) T190I possibly damaging Het
Fam76a T C 4: 132,648,208 (GRCm39) H3R possibly damaging Het
Gabbr1 G T 17: 37,365,128 (GRCm39) E138* probably null Het
Gimap3 T C 6: 48,742,654 (GRCm39) D92G possibly damaging Het
Gin1 T C 1: 97,712,801 (GRCm39) Y285H probably damaging Het
Gm4868 A G 5: 125,925,782 (GRCm39) noncoding transcript Het
Gm7052 T A 17: 22,259,405 (GRCm39) probably benign Het
Gpcpd1 T A 2: 132,392,270 (GRCm39) E226D probably benign Het
Hoxb4 T C 11: 96,209,992 (GRCm39) S133P possibly damaging Het
Hrg C T 16: 22,779,972 (GRCm39) probably benign Het
Insrr A G 3: 87,708,194 (GRCm39) K212R probably benign Het
Ipp A G 4: 116,387,655 (GRCm39) D411G probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnq3 A G 15: 65,902,461 (GRCm39) F172L probably damaging Het
Kdm5d T C Y: 927,110 (GRCm39) F616S probably damaging Het
Lars1 T C 18: 42,361,295 (GRCm39) probably null Het
Lmo7 G T 14: 102,125,030 (GRCm39) Q496H probably damaging Het
Map3k9 C A 12: 81,780,865 (GRCm39) A432S probably benign Het
Nop2 T G 6: 125,117,844 (GRCm39) probably null Het
Nup50l T A 6: 96,141,862 (GRCm39) N394I probably damaging Het
Or10ag53 C A 2: 87,082,802 (GRCm39) Q174K possibly damaging Het
Or2h2 T C 17: 37,396,471 (GRCm39) I195M probably damaging Het
Or5m11b A T 2: 85,806,175 (GRCm39) E196V probably damaging Het
Or6k2 A T 1: 173,986,494 (GRCm39) N52Y possibly damaging Het
Pan2 A G 10: 128,144,512 (GRCm39) T187A probably benign Het
Pcmtd2 A G 2: 181,484,217 (GRCm39) E9G possibly damaging Het
Pik3cb T A 9: 98,972,310 (GRCm39) I283F possibly damaging Het
Pkhd1 G A 1: 20,683,633 (GRCm39) T40I probably damaging Het
Plxna2 T C 1: 194,493,296 (GRCm39) V1857A possibly damaging Het
Polg T C 7: 79,110,127 (GRCm39) S334G probably damaging Het
Rem2 T C 14: 54,715,116 (GRCm39) S98P probably damaging Het
Rpl5-ps2 G T 2: 154,546,156 (GRCm39) noncoding transcript Het
Slc6a18 A T 13: 73,814,489 (GRCm39) N468K possibly damaging Het
Slco4a1 A T 2: 180,106,171 (GRCm39) T118S probably benign Het
Smg1 A T 7: 117,738,688 (GRCm39) N3520K possibly damaging Het
Tapbp C A 17: 34,145,427 (GRCm39) D415E probably damaging Het
Topaz1 A G 9: 122,576,501 (GRCm39) T31A probably benign Het
Trpv6 C T 6: 41,598,678 (GRCm39) R649H probably damaging Het
Vmn1r188 A G 13: 22,272,688 (GRCm39) Y214C probably benign Het
Vps8 T A 16: 21,254,525 (GRCm39) I59N probably damaging Het
Wnt9a T C 11: 59,222,163 (GRCm39) C354R probably damaging Het
Zcchc2 A G 1: 105,958,987 (GRCm39) T1153A possibly damaging Het
Zfp30 A G 7: 29,492,627 (GRCm39) R294G probably damaging Het
Zfp558 A T 9: 18,367,799 (GRCm39) C330S possibly damaging Het
Zfp62 A C 11: 49,106,568 (GRCm39) S220R probably damaging Het
Zfp62 G T 11: 49,106,569 (GRCm39) S220I probably damaging Het
Zp3r A G 1: 130,505,757 (GRCm39) S423P probably damaging Het
Other mutations in Galc
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AGCAGGTGTCCATTCACAC -3'
(R):5'- TGCTATAAATGTTTGCCATTCCTGC -3'

Sequencing Primer
(F):5'- GAAGGCACCATATCCTCTGTAG -3'
(R):5'- CCTGCTACTTTTCAGGCATTG -3'
Posted On 2015-09-24