Incidental Mutation 'R5689:Galc'
ID 443590
Institutional Source Beutler Lab
Gene Symbol Galc
Ensembl Gene ENSMUSG00000021003
Gene Name galactosylceramidase
Synonyms 2310068B06Rik, Gacy, A930008M05Rik, galactocerebrosidase
MMRRC Submission 043322-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5689 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 98168553-98225718 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 98179245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 361 (H361N)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021390]
AlphaFold P54818
Predicted Effect probably benign
Transcript: ENSMUST00000021390
AA Change: H555N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021390
Gene: ENSMUSG00000021003
AA Change: H555N

DomainStartEndE-ValueType
Pfam:Glyco_hydro_59 17 684 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000221063
AA Change: H361N

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222703
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 95% (63/66)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy7 G T 8: 89,051,412 (GRCm39) C844F probably benign Het
Afdn T C 17: 14,075,621 (GRCm39) V945A probably damaging Het
Aimp2 T C 5: 143,843,389 (GRCm39) D67G possibly damaging Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Atp11b G T 3: 35,888,501 (GRCm39) V924F possibly damaging Het
Atp8b1 C T 18: 64,697,608 (GRCm39) R412H probably damaging Het
Cfb T A 17: 35,080,770 (GRCm39) T76S probably benign Het
Cmpk2 A T 12: 26,519,766 (GRCm39) H139L probably benign Het
Cypt4 T C 9: 24,536,542 (GRCm39) S11P possibly damaging Het
Dbx1 A G 7: 49,282,519 (GRCm39) F229L probably damaging Het
Dnah6 T A 6: 72,998,210 (GRCm39) M4071L probably benign Het
Dnah7a A G 1: 53,444,857 (GRCm39) V3949A possibly damaging Het
Dnajc25 A G 4: 59,017,716 (GRCm39) E6G probably damaging Het
Dync2h1 C A 9: 7,169,689 (GRCm39) V263F probably damaging Het
Eno4 T A 19: 58,959,088 (GRCm39) D403E probably benign Het
Evi5l C T 8: 4,255,460 (GRCm39) Q542* probably null Het
Fam135a A G 1: 24,068,134 (GRCm39) S12P probably benign Het
Flnc G A 6: 29,441,591 (GRCm39) A458T probably benign Het
Fnip1 T C 11: 54,393,115 (GRCm39) V517A probably damaging Het
Gask1a T C 9: 121,794,754 (GRCm39) F303L probably damaging Het
Gcnt1 T A 19: 17,306,768 (GRCm39) D319V probably damaging Het
Gm26996 T C 6: 130,555,258 (GRCm39) noncoding transcript Het
Gm5321 A T 7: 6,022,268 (GRCm39) noncoding transcript Het
Grin3b T C 10: 79,810,465 (GRCm39) L657P probably damaging Het
Gstm5 T C 3: 107,803,981 (GRCm39) F54S probably damaging Het
Ilk C A 7: 105,390,857 (GRCm39) L267I probably benign Het
Lifr A G 15: 7,214,285 (GRCm39) Y713C probably damaging Het
Lnx2 A T 5: 146,965,961 (GRCm39) V386E probably damaging Het
Lrch1 T C 14: 75,023,764 (GRCm39) E587G probably damaging Het
Or10g3 C T 14: 52,610,214 (GRCm39) V99M possibly damaging Het
Osgin1 A G 8: 120,171,728 (GRCm39) *173W probably null Het
Pcdhga7 C A 18: 37,849,736 (GRCm39) P581H probably damaging Het
Pde4dip A T 3: 97,599,683 (GRCm39) L2384* probably null Het
Phf12 T A 11: 77,914,551 (GRCm39) N115K probably damaging Het
Pmel A G 10: 128,552,170 (GRCm39) T335A probably damaging Het
Polr3e C A 7: 120,539,912 (GRCm39) T579K possibly damaging Het
Ptprc A G 1: 138,045,515 (GRCm39) V164A probably benign Het
Rapsn T C 2: 90,866,269 (GRCm39) F43S probably damaging Het
Rarb T A 14: 16,434,177 (GRCm38) I334F probably damaging Het
Rev3l T C 10: 39,670,954 (GRCm39) Y167H probably damaging Het
Rnf146 T C 10: 29,223,800 (GRCm39) T29A probably benign Het
Rsf1 GC GCGGCGGCGCC 7: 97,229,141 (GRCm39) probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc5a10 C T 11: 61,598,710 (GRCm39) M223I probably benign Het
Slc7a11 C G 3: 50,326,780 (GRCm39) V494L probably benign Het
Slitrk6 C T 14: 110,989,558 (GRCm39) E50K probably benign Het
Smg8 A G 11: 86,975,949 (GRCm39) F544S probably damaging Het
Tnpo3 T C 6: 29,571,063 (GRCm39) M444V possibly damaging Het
Trav7d-4 G A 14: 53,007,651 (GRCm39) R48H probably damaging Het
Trim50 A T 5: 135,382,516 (GRCm39) T123S probably damaging Het
Trpc4ap C G 2: 155,512,955 (GRCm39) probably null Het
Ttn T A 2: 76,618,620 (GRCm39) R14475S probably damaging Het
Uts2 A T 4: 151,083,565 (GRCm39) T59S possibly damaging Het
Vmn1r52 T C 6: 90,156,232 (GRCm39) S179P possibly damaging Het
Vmn2r116 A G 17: 23,616,693 (GRCm39) H537R probably benign Het
Vps16 C T 2: 130,281,011 (GRCm39) Q226* probably null Het
Zfhx2 T C 14: 55,311,360 (GRCm39) T445A possibly damaging Het
Zfp638 T C 6: 83,906,054 (GRCm39) V73A 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
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
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
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'- TCTGACCGCAATTATCTTCAAACTG -3'
(R):5'- CAGCCGCTGAGATACTAAGTG -3'

Sequencing Primer
(F):5'- CTTCAAACTGGCATAATCTAAAGGG -3'
(R):5'- TGTGTTCTGAACAGAGTACCCAC -3'
Posted On 2016-11-09