Incidental Mutation 'IGL02274:Galc'
| ID |
287275 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Galc
|
| Ensembl Gene |
ENSMUSG00000021003 |
| Gene Name |
galactosylceramidase |
| Synonyms |
2310068B06Rik, Gacy, A930008M05Rik, galactocerebrosidase |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02274
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
98168553-98225718 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 98220473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 131
(W131*)
|
| 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 null
Transcript: ENSMUST00000021390
AA Change: W131*
|
| SMART Domains |
Protein: ENSMUSP00000021390
Gene: ENSMUSG00000021003
AA Change: W131*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_hydro_59
|
17 |
684 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218708
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221322
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222042
|
| Coding Region Coverage |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef10 |
A |
G |
8: 14,997,205 (GRCm39) |
D48G |
probably damaging |
Het |
| Asnsd1 |
T |
C |
1: 53,386,734 (GRCm39) |
I298V |
probably benign |
Het |
| Cacna2d3 |
G |
T |
14: 28,678,827 (GRCm39) |
|
probably null |
Het |
| Cbs |
T |
C |
17: 31,844,922 (GRCm39) |
|
probably null |
Het |
| Ccm2 |
C |
A |
11: 6,540,808 (GRCm39) |
T216K |
probably damaging |
Het |
| Gemin5 |
T |
C |
11: 58,047,621 (GRCm39) |
R318G |
possibly damaging |
Het |
| Gsta3 |
T |
G |
1: 21,320,012 (GRCm39) |
V6G |
possibly damaging |
Het |
| Hdlbp |
A |
T |
1: 93,336,229 (GRCm39) |
|
probably null |
Het |
| Igkv13-55-1 |
T |
G |
6: 69,577,132 (GRCm39) |
|
noncoding transcript |
Het |
| Il17rd |
A |
G |
14: 26,821,867 (GRCm39) |
Y387C |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,369,742 (GRCm39) |
|
probably null |
Het |
| Kmt2e |
C |
T |
5: 23,705,758 (GRCm39) |
T1344I |
probably benign |
Het |
| L3mbtl4 |
A |
C |
17: 69,071,579 (GRCm39) |
H502P |
probably benign |
Het |
| Lrig1 |
A |
T |
6: 94,640,919 (GRCm39) |
N95K |
possibly damaging |
Het |
| Neurl2 |
G |
T |
2: 164,675,012 (GRCm39) |
R117S |
probably damaging |
Het |
| Nos1 |
G |
A |
5: 118,035,845 (GRCm39) |
A449T |
probably damaging |
Het |
| Noxa1 |
A |
T |
2: 24,975,767 (GRCm39) |
V435E |
probably benign |
Het |
| Parp9 |
C |
T |
16: 35,768,317 (GRCm39) |
R166W |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,445,735 (GRCm39) |
I158T |
probably damaging |
Het |
| Pip5k1c |
T |
C |
10: 81,142,218 (GRCm39) |
Y143H |
probably damaging |
Het |
| Qrfpr |
A |
G |
3: 36,276,285 (GRCm39) |
V35A |
probably damaging |
Het |
| Rab3gap1 |
T |
G |
1: 127,866,817 (GRCm39) |
S881A |
probably benign |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Scai |
G |
A |
2: 38,992,329 (GRCm39) |
|
probably benign |
Het |
| Skic2 |
T |
A |
17: 35,064,839 (GRCm39) |
I418F |
probably damaging |
Het |
| Tenm4 |
A |
C |
7: 96,503,941 (GRCm39) |
H1300P |
probably damaging |
Het |
| Tmppe |
A |
G |
9: 114,234,499 (GRCm39) |
H266R |
probably benign |
Het |
| Wdr11 |
A |
T |
7: 129,232,896 (GRCm39) |
|
probably null |
Het |
| Xirp2 |
A |
G |
2: 67,338,995 (GRCm39) |
E412G |
probably benign |
Het |
| Zan |
A |
G |
5: 137,419,429 (GRCm39) |
V2910A |
unknown |
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 |
|
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 |
|
|
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 |
|
|
|
| Posted On |
2015-04-16 |
Incidental Mutation