Incidental Mutation 'R5495:Galc'
| ID |
432303 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galc
|
| Ensembl Gene |
ENSMUSG00000021003 |
| Gene Name |
galactosylceramidase |
| Synonyms |
2310068B06Rik, Gacy, A930008M05Rik, galactocerebrosidase |
| MMRRC Submission |
043056-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5495 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
98168553-98225718 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 98197673 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
| Domain | Start | End | E-Value | Type |
|---|
|
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: 98.4%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.4%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt2 |
T |
C |
7: 27,335,594 (GRCm39) |
|
probably null |
Het |
| Arhgap29 |
T |
G |
3: 121,808,578 (GRCm39) |
M844R |
probably damaging |
Het |
| Atp1a1 |
T |
G |
3: 101,498,741 (GRCm39) |
D184A |
probably benign |
Het |
| Bcl11a |
T |
A |
11: 24,115,042 (GRCm39) |
V795E |
possibly damaging |
Het |
| Casp12 |
T |
A |
9: 5,353,797 (GRCm39) |
I277N |
possibly damaging |
Het |
| Ccdc59 |
A |
G |
10: 105,681,239 (GRCm39) |
K164E |
probably damaging |
Het |
| D630003M21Rik |
C |
T |
2: 158,062,431 (GRCm39) |
G30S |
possibly damaging |
Het |
| Dgkd |
A |
G |
1: 87,854,594 (GRCm39) |
D632G |
probably damaging |
Het |
| Efr3a |
A |
G |
15: 65,687,258 (GRCm39) |
K56E |
possibly damaging |
Het |
| Egflam |
T |
A |
15: 7,280,722 (GRCm39) |
R434S |
probably damaging |
Het |
| Fancl |
C |
G |
11: 26,347,801 (GRCm39) |
A51G |
probably damaging |
Het |
| Fkbp7 |
T |
C |
2: 76,493,638 (GRCm39) |
Y185C |
probably damaging |
Het |
| Galnt15 |
A |
G |
14: 31,751,774 (GRCm39) |
S109G |
probably damaging |
Het |
| Gramd2b |
T |
C |
18: 56,615,694 (GRCm39) |
I163T |
probably damaging |
Het |
| Impa1 |
A |
G |
3: 10,391,230 (GRCm39) |
V80A |
probably benign |
Het |
| Itga10 |
T |
C |
3: 96,554,687 (GRCm39) |
M56T |
possibly damaging |
Het |
| Larp1b |
G |
T |
3: 40,990,257 (GRCm39) |
R135I |
probably damaging |
Het |
| Lgals12 |
C |
T |
19: 7,581,495 (GRCm39) |
A71T |
probably damaging |
Het |
| Lmbr1 |
A |
T |
5: 29,551,851 (GRCm39) |
L78* |
probably null |
Het |
| Lrat |
C |
A |
3: 82,804,289 (GRCm39) |
M229I |
probably benign |
Het |
| Mug2 |
A |
T |
6: 122,056,609 (GRCm39) |
M1185L |
probably damaging |
Het |
| Naprt |
T |
C |
15: 75,765,696 (GRCm39) |
|
probably null |
Het |
| Nfat5 |
A |
G |
8: 108,095,079 (GRCm39) |
I1107V |
probably benign |
Het |
| Nr4a2 |
T |
C |
2: 57,002,387 (GRCm39) |
Y22C |
probably damaging |
Het |
| Ogfod1 |
C |
A |
8: 94,790,906 (GRCm39) |
Q526K |
probably benign |
Het |
| Or2d4 |
C |
A |
7: 106,543,699 (GRCm39) |
G170* |
probably null |
Het |
| Or3a10 |
G |
A |
11: 73,935,611 (GRCm39) |
T163I |
probably damaging |
Het |
| Or4p21 |
T |
C |
2: 88,276,401 (GRCm39) |
T294A |
probably benign |
Het |
| Or8g36 |
T |
C |
9: 39,422,441 (GRCm39) |
T192A |
probably benign |
Het |
| Parp10 |
T |
G |
15: 76,127,366 (GRCm39) |
I24L |
probably benign |
Het |
| Pcdha11 |
A |
G |
18: 37,144,079 (GRCm39) |
T57A |
probably benign |
Het |
| Prdm8 |
A |
G |
5: 98,333,165 (GRCm39) |
E244G |
possibly damaging |
Het |
| Prl6a1 |
T |
C |
13: 27,496,654 (GRCm39) |
S3P |
possibly damaging |
Het |
| Rab11fip3 |
T |
A |
17: 26,235,117 (GRCm39) |
T18S |
probably damaging |
Het |
| Rfc4 |
T |
C |
16: 22,941,004 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
G |
T |
14: 75,279,777 (GRCm39) |
V387F |
possibly damaging |
Het |
| S100a7l2 |
A |
T |
3: 90,997,602 (GRCm39) |
L38M |
possibly damaging |
Het |
| Serpinb12 |
T |
C |
1: 106,884,151 (GRCm39) |
L299P |
probably damaging |
Het |
| Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
| Taar4 |
A |
T |
10: 23,837,181 (GRCm39) |
I264F |
possibly damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 129,523,570 (GRCm39) |
H124Q |
probably damaging |
Het |
| Ugt1a6a |
A |
T |
1: 88,066,746 (GRCm39) |
Q184L |
probably benign |
Het |
| Vnn1 |
T |
A |
10: 23,774,462 (GRCm39) |
F168L |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,468,670 (GRCm39) |
L267P |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,772,354 (GRCm39) |
S1621G |
probably damaging |
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 |
|
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 |
|
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'- GTACAAAATACAGAAAGCAATCAGGTT -3'
(R):5'- GGTGTACTTAAGTTAATCTTCATTTGC -3'
Sequencing Primer
(F):5'- ACTGGCAGAACTCCCTT -3'
(R):5'- GAGTTGCCTTATGGACGA -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation