Incidental Mutation 'R4983:Galc'
ID 385753
Institutional Source Beutler Lab
Gene Symbol Galc
Ensembl Gene ENSMUSG00000021003
Gene Name galactosylceramidase
Synonyms 2310068B06Rik, Gacy, A930008M05Rik, galactocerebrosidase
MMRRC Submission 042577-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4983 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 98168553-98225718 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 98209027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 15 (L15*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021390]
AlphaFold P54818
Predicted Effect probably null
Transcript: ENSMUST00000021390
AA Change: L209*
SMART Domains Protein: ENSMUSP00000021390
Gene: ENSMUSG00000021003
AA Change: L209*

DomainStartEndE-ValueType
Pfam:Glyco_hydro_59 17 684 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220501
Predicted Effect probably null
Transcript: ENSMUST00000221063
AA Change: L15*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222042
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (103/106)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411K16Rik T G 19: 42,041,515 (GRCm39) S215R possibly damaging Het
Abcc9 T C 6: 142,627,867 (GRCm39) M388V probably benign Het
Acbd6 A C 1: 155,477,275 (GRCm39) T154P probably benign Het
Ago1 T C 4: 126,347,447 (GRCm39) D434G probably damaging Het
Ankib1 A T 5: 3,819,652 (GRCm39) M89K probably benign Het
Arap2 A T 5: 62,833,868 (GRCm39) H866Q probably damaging Het
Armh3 T C 19: 45,939,146 (GRCm39) T335A probably benign Het
Capn12 A T 7: 28,589,795 (GRCm39) H622L probably benign Het
Capns2 T G 8: 93,628,530 (GRCm39) F140V probably damaging Het
Catsper1 T G 19: 5,385,991 (GRCm39) F75V probably benign Het
Ccdc24 T C 4: 117,729,297 (GRCm39) N16S probably benign Het
Cdkn2aip A T 8: 48,165,964 (GRCm39) L114Q probably damaging Het
Cenpe T A 3: 134,940,689 (GRCm39) S649R probably damaging Het
Chgb A T 2: 132,635,602 (GRCm39) R515W probably damaging Het
Chrnb1 A G 11: 69,684,804 (GRCm39) F123S probably damaging Het
Copz2 A T 11: 96,748,377 (GRCm39) probably null Het
Cspp1 T A 1: 10,196,688 (GRCm39) N900K probably damaging Het
Daw1 C A 1: 83,165,719 (GRCm39) A178E probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Epb41l5 T C 1: 119,482,801 (GRCm39) D629G probably benign Het
Erap1 A G 13: 74,838,829 (GRCm39) E925G probably benign Het
Exoc7 A C 11: 116,180,095 (GRCm39) F657V probably damaging Het
Fam210b G C 2: 172,187,585 (GRCm39) A2P probably damaging Homo
Fry A G 5: 150,321,719 (GRCm39) E1018G probably damaging Het
Gm11232 T A 4: 71,675,138 (GRCm39) K121N possibly damaging Het
Hectd1 A T 12: 51,831,045 (GRCm39) D931E probably benign Het
Hecw2 T C 1: 53,871,830 (GRCm39) H1372R probably benign Het
Ighv3-2 T A 12: 113,997,606 (GRCm39) noncoding transcript Het
Kcns2 T G 15: 34,839,751 (GRCm39) S371R probably damaging Het
Kif23 T C 9: 61,843,985 (GRCm39) K175E probably benign Het
Kmt2c G A 5: 25,500,509 (GRCm39) R436W possibly damaging Het
Lama5 A G 2: 179,835,242 (GRCm39) S1317P probably benign Het
Lce1e T C 3: 92,615,135 (GRCm39) S71G unknown Het
Lrrc37a T A 11: 103,388,444 (GRCm39) E2327V unknown Het
Map3k20 A G 2: 72,232,411 (GRCm39) M356V probably benign Het
Med12l C T 3: 59,169,350 (GRCm39) A1580V probably damaging Het
Metap2 G T 10: 93,725,462 (GRCm39) T30K possibly damaging Het
Mysm1 T A 4: 94,861,207 (GRCm39) T53S probably benign Het
Nasp A T 4: 116,459,382 (GRCm39) D717E probably damaging Het
Ndnf G A 6: 65,680,555 (GRCm39) R278H possibly damaging Het
Neb A T 2: 52,106,273 (GRCm39) N4205K probably damaging Het
Nebl A T 2: 17,380,082 (GRCm39) I764N possibly damaging Het
Nucb1 A G 7: 45,148,313 (GRCm39) Y131H probably damaging Het
Or14c39 A C 7: 86,343,687 (GRCm39) T8P probably benign Het
Or1e22 A G 11: 73,377,623 (GRCm39) I9T probably benign Het
Or5l14 G T 2: 87,793,042 (GRCm39) H65N probably benign Het
Oscp1 T A 4: 125,970,555 (GRCm39) C115S probably benign Het
Paip2 C T 18: 35,746,412 (GRCm39) R59C possibly damaging Het
Pate10 T G 9: 35,653,465 (GRCm39) F90V probably benign Het
Pcdhga4 G A 18: 37,819,572 (GRCm39) D374N probably damaging Het
Pcolce G T 5: 137,603,936 (GRCm39) probably benign Het
Pcyox1l T C 18: 61,832,468 (GRCm39) E193G probably damaging Het
Pde6b A T 5: 108,573,196 (GRCm39) Q522L probably benign Het
Peg10 T TCCG 6: 4,756,451 (GRCm39) probably benign Het
Phf11a A G 14: 59,521,887 (GRCm39) F95L probably benign Het
Pja2 A C 17: 64,616,053 (GRCm39) S281A probably benign Het
Plekhm2 A G 4: 141,361,687 (GRCm39) F272S probably damaging Het
Pom121l2 T C 13: 22,167,984 (GRCm39) S752P probably benign Het
Ppl T C 16: 4,906,582 (GRCm39) T1238A possibly damaging Het
Prmt7 A G 8: 106,976,995 (GRCm39) Y569C probably damaging Het
Prss37 G A 6: 40,493,070 (GRCm39) T132I probably benign Het
Psmf1 A T 2: 151,571,377 (GRCm39) probably benign Het
Ptprj A C 2: 90,290,876 (GRCm39) I528S probably damaging Het
Reg1 A G 6: 78,405,196 (GRCm39) T140A possibly damaging Het
Rtn4 A G 11: 29,657,217 (GRCm39) N457S probably benign Het
Rusf1 C T 7: 127,875,645 (GRCm39) probably benign Het
Scn9a T C 2: 66,396,614 (GRCm39) K93R probably benign Het
Sec16a A G 2: 26,329,531 (GRCm39) V828A probably benign Het
Sec23b T A 2: 144,423,873 (GRCm39) D507E probably benign Het
Sirt4 A T 5: 115,620,850 (GRCm39) F107L probably benign Het
Slc14a2 A T 18: 78,193,616 (GRCm39) L862Q probably damaging Het
Slc16a4 T C 3: 107,208,176 (GRCm39) S229P probably benign Het
Slc37a3 A T 6: 39,329,651 (GRCm39) C185* probably null Het
Slc5a2 A T 7: 127,870,982 (GRCm39) *154C probably null Het
Snx17 A G 5: 31,353,138 (GRCm39) S42G possibly damaging Het
Tgm6 T C 2: 129,983,113 (GRCm39) V234A probably damaging Het
Thbs4 A G 13: 92,927,207 (GRCm39) M94T probably benign Het
Thtpa A G 14: 55,309,605 (GRCm39) probably benign Het
Tie1 T C 4: 118,340,952 (GRCm39) E343G probably damaging Het
Tmem145 A G 7: 25,008,027 (GRCm39) I238V probably benign Het
Tmprss11f T C 5: 86,685,858 (GRCm39) S170G probably benign Het
Tnk2 T A 16: 32,499,283 (GRCm39) D865E probably damaging Het
Ttll8 T C 15: 88,809,785 (GRCm39) E337G probably benign Het
Ttn G A 2: 76,697,790 (GRCm39) probably benign Het
Tubgcp6 T C 15: 88,990,494 (GRCm39) E710G probably damaging Het
Txndc2 T A 17: 65,945,055 (GRCm39) H374L probably benign Het
Unc80 G T 1: 66,713,891 (GRCm39) probably null Het
Vmn2r23 G A 6: 123,710,308 (GRCm39) C537Y probably damaging Het
Vmn2r45 A G 7: 8,486,116 (GRCm39) F391L probably damaging Het
Vstm4 A T 14: 32,641,202 (GRCm39) T262S probably benign Het
Zfp180 C T 7: 23,805,503 (GRCm39) R641C probably damaging Het
Zfp979 A T 4: 147,698,371 (GRCm39) S113T possibly damaging Het
Zswim4 C T 8: 84,953,296 (GRCm39) probably null Het
Zswim5 T A 4: 116,842,883 (GRCm39) M876K possibly 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
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'- TGCCATAGGAGTGTAATCCAGG -3'
(R):5'- ATGCCTCCACTGCATTATGC -3'

Sequencing Primer
(F):5'- TGCACAGTTAACACCAGGG -3'
(R):5'- TGCATTATGCCGGACACC -3'
Posted On 2016-05-10