Incidental Mutation 'R5220:Galc'
ID 402283
Institutional Source Beutler Lab
Gene Symbol Galc
Ensembl Gene ENSMUSG00000021003
Gene Name galactosylceramidase
Synonyms 2310068B06Rik, Gacy, A930008M05Rik, galactocerebrosidase
MMRRC Submission 042793-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5220 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 98168553-98225718 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) T to A at 98197672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000021390]
AlphaFold P54818
Predicted Effect probably null
Transcript: ENSMUST00000021390
SMART Domains Protein: ENSMUSP00000021390
Gene: ENSMUSG00000021003

DomainStartEndE-ValueType
Pfam:Glyco_hydro_59 17 684 N/A PFAM
Predicted Effect probably null
Transcript: ENSMUST00000221063
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222379
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,738,045 (GRCm39) E250G probably damaging Het
Adgra1 A G 7: 139,455,512 (GRCm39) N380S probably benign Het
Ap3d1 G A 10: 80,563,001 (GRCm39) P160L probably damaging Het
Atg9a C T 1: 75,162,372 (GRCm39) V505M probably damaging Het
Chsy3 A T 18: 59,543,102 (GRCm39) I747F probably damaging Het
Clec2g A G 6: 128,958,269 (GRCm39) S100G probably benign Het
Cmya5 G T 13: 93,228,804 (GRCm39) P2095T probably damaging Het
Dcaf10 T C 4: 45,373,909 (GRCm39) W445R possibly damaging Het
Espl1 T A 15: 102,207,012 (GRCm39) L159M probably benign Het
Fbxw8 T C 5: 118,233,776 (GRCm39) D285G possibly damaging Het
Fras1 C T 5: 96,916,222 (GRCm39) R3419W probably damaging Het
Ghdc T C 11: 100,660,543 (GRCm39) E110G probably damaging Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
H2-T24 T C 17: 36,325,562 (GRCm39) T309A probably benign Het
Helb A C 10: 119,937,391 (GRCm39) F618V probably damaging Het
Hycc1 A C 5: 24,170,220 (GRCm39) S376R possibly damaging Het
Ifi211 A G 1: 173,735,262 (GRCm39) F56L probably damaging Het
Kntc1 T C 5: 123,950,160 (GRCm39) F1988L probably damaging Het
Mapk13 G A 17: 28,997,465 (GRCm39) S361N probably benign Het
Mapk3 A G 7: 126,363,408 (GRCm39) I146V probably benign Het
Megf6 G A 4: 154,338,295 (GRCm39) probably null Het
Mug1 G T 6: 121,838,092 (GRCm39) V441F probably benign Het
Mymk A G 2: 26,952,226 (GRCm39) S173P probably benign Het
Nox4 A G 7: 87,023,616 (GRCm39) T501A possibly damaging Het
Or13c7 C A 4: 43,854,624 (GRCm39) S105Y possibly damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or52n2 T C 7: 104,542,104 (GRCm39) T244A possibly damaging Het
Prkcb C A 7: 121,888,678 (GRCm39) H37Q probably damaging Het
Rabggtb A G 3: 153,615,024 (GRCm39) F189L probably damaging Het
Setd1b T C 5: 123,281,471 (GRCm39) I75T unknown Het
Slc10a5 T A 3: 10,400,148 (GRCm39) R171* probably null Het
Slc12a4 A G 8: 106,680,484 (GRCm39) F211L probably damaging Het
Slc1a5 T A 7: 16,527,759 (GRCm39) W352R probably damaging Het
Slc22a27 C G 19: 7,843,303 (GRCm39) A359P probably damaging Het
St8sia4 A G 1: 95,555,460 (GRCm39) M190T probably damaging Het
Tmeff2 A G 1: 51,018,476 (GRCm39) M153V probably benign Het
Trappc12 T C 12: 28,796,696 (GRCm39) T279A probably damaging Het
Ubn1 G T 16: 4,895,818 (GRCm39) A955S probably benign Het
Usp24 T A 4: 106,239,500 (GRCm39) H1147Q possibly damaging Het
Vrk1 T A 12: 106,039,865 (GRCm39) probably null Het
Zdhhc25 T A 15: 88,485,365 (GRCm39) Y233* probably null Het
Zfp109 A G 7: 23,928,179 (GRCm39) V418A probably benign 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
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
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'- GTACAAAATACAGAAAGCAATCAGGT -3'
(R):5'- TGGCAACATATATTTTGTTTGGTGTA -3'

Sequencing Primer
(F):5'- GTTTGTACAACCTCCTTTGG -3'
(R):5'- GAGTTGCCTTATGGACGAA -3'
Posted On 2016-07-22