Mutagenetix > Incidental Mutation

Incidental Mutation 'R4851:Galc'

373568

Institutional Source

Beutler Lab

Gene Symbol

Galc

Ensembl Gene

ENSMUSG00000021003

Gene Name

galactosylceramidase

Synonyms

2310068B06Rik, Gacy, A930008M05Rik, galactocerebrosidase

MMRRC Submission

042463-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4851 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98168553-98225718 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98193533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 352 (Q352L)

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 benign
Transcript: ENSMUST00000021390
AA Change: Q352L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000021390
Gene: ENSMUSG00000021003
AA Change: Q352L

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_59	17	684	N/A	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000221063
AA Change: Q158L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222042

Meta Mutation Damage Score

0.1456

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (99/99)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,433,890 (GRCm39)	R4148S	probably benign	Het
Acoxl	T	A	2: 127,886,311 (GRCm39)	L182Q	possibly damaging	Het
Aldh7a1	T	C	18: 56,665,088 (GRCm39)	T364A	possibly damaging	Het
App	T	C	16: 84,853,322 (GRCm39)	D252G	unknown	Het
Arid1a	A	G	4: 133,408,672 (GRCm39)	I1945T	unknown	Het
Arsk	C	T	13: 76,213,398 (GRCm39)		probably null	Het
Atad2b	G	A	12: 4,993,251 (GRCm39)	G257S	probably benign	Het
Best1	C	A	19: 9,969,062 (GRCm39)	R218L	probably damaging	Het
Cacna1e	A	T	1: 154,312,300 (GRCm39)		probably null	Het
Cdh13	C	T	8: 119,484,129 (GRCm39)	T130I	possibly damaging	Het
Cela2a	T	C	4: 141,552,902 (GRCm39)	E25G	probably benign	Het
Cgnl1	T	A	9: 71,632,314 (GRCm39)	I346F	probably damaging	Het
Chil6	C	T	3: 106,297,244 (GRCm39)	G299D	possibly damaging	Het
Cic	G	A	7: 24,972,327 (GRCm39)	R686H	probably damaging	Het
Cnpy1	T	C	5: 28,450,738 (GRCm39)	I23V	probably benign	Het
Col6a3	T	A	1: 90,707,011 (GRCm39)	Y2034F	unknown	Het
Coq10b	T	C	1: 55,110,903 (GRCm39)	Y224H	probably benign	Het
Cryge	G	T	1: 65,090,211 (GRCm39)		probably benign	Het
Cyb5rl	T	G	4: 106,941,510 (GRCm39)	S252A	probably benign	Het
Cyp2ab1	T	A	16: 20,133,814 (GRCm39)	R125S	probably damaging	Het
Dclk1	G	A	3: 55,387,811 (GRCm39)	G86R	probably damaging	Het
Dmtn	A	G	14: 70,842,254 (GRCm39)	M382T	probably damaging	Het
Dnaaf8	A	G	16: 4,794,138 (GRCm39)		noncoding transcript	Het
Dnah12	T	A	14: 26,437,784 (GRCm39)	L471*	probably null	Het
Dock10	A	T	1: 80,526,874 (GRCm39)	S782T	probably benign	Het
Egfem1	C	A	3: 29,206,032 (GRCm39)	H90N	possibly damaging	Het
Ephb6	T	A	6: 41,595,079 (GRCm39)	W698R	probably benign	Het
Exoc4	T	A	6: 33,895,343 (GRCm39)	C787S	probably damaging	Het
Exosc8	A	T	3: 54,639,523 (GRCm39)		probably benign	Het
Galns	A	G	8: 123,327,272 (GRCm39)	Y167H	probably damaging	Het
Glb1l	T	C	1: 75,185,528 (GRCm39)		probably benign	Het
Gm6185	A	T	1: 161,033,750 (GRCm39)		noncoding transcript	Het
Gm7694	T	C	1: 170,128,794 (GRCm39)	N245S	probably benign	Het
Gmcl1	T	G	6: 86,681,538 (GRCm39)	K385N	possibly damaging	Het
Gramd1c	A	T	16: 43,810,200 (GRCm39)	W463R	probably damaging	Het
Gtpbp8	C	G	16: 44,566,433 (GRCm39)	A90P	probably benign	Het
H2bc11	G	T	13: 22,227,421 (GRCm39)		probably benign	Het
Hcar1	T	C	5: 124,016,731 (GRCm39)	E320G	probably benign	Het
Hhatl	T	C	9: 121,618,077 (GRCm39)	D226G	probably damaging	Het
Hoxc5	T	A	15: 102,923,801 (GRCm39)	I199N	probably damaging	Het
Iars2	T	C	1: 185,059,845 (GRCm39)	D121G	probably damaging	Het
Il5ra	T	A	6: 106,715,432 (GRCm39)	H134L	probably benign	Het
Isl2	T	A	9: 55,452,271 (GRCm39)	I281N	possibly damaging	Het
Kcnk13	T	C	12: 99,932,383 (GRCm39)	F60L	probably damaging	Het
Kdelr3	C	T	15: 79,409,066 (GRCm39)	T85M	possibly damaging	Het
Kdf1	A	T	4: 133,255,676 (GRCm39)	H131L	probably damaging	Het
Mipol1	T	A	12: 57,379,087 (GRCm39)	L182I	probably damaging	Het
Morc1	T	G	16: 48,381,980 (GRCm39)	S513R	probably benign	Het
Moxd2	A	T	6: 40,855,756 (GRCm39)	L611H	probably damaging	Het
Mpped2	T	C	2: 106,529,724 (GRCm39)		probably benign	Het
Mrpl51	T	C	6: 125,170,270 (GRCm39)	V92A	probably benign	Het
Mrps26	G	A	2: 130,405,681 (GRCm39)		probably benign	Het
Mrps5	A	G	2: 127,432,665 (GRCm39)	T29A	probably benign	Het
Mustn1	A	G	14: 30,601,517 (GRCm39)		probably benign	Het
Ncor2	G	A	5: 125,110,431 (GRCm39)	P858S	possibly damaging	Het
Nfasc	A	G	1: 132,529,759 (GRCm39)	F807S	probably damaging	Het
Nup50	G	A	15: 84,823,912 (GRCm39)	V422I	probably benign	Het
Or10x1	T	A	1: 174,196,562 (GRCm39)	F26L	probably benign	Het
Or13a25	A	T	7: 140,247,226 (GRCm39)	M2L	probably benign	Het
Or1e25	A	T	11: 73,493,883 (GRCm39)	H159L	probably damaging	Het
Or2ag13	A	T	7: 106,473,221 (GRCm39)	V77D	probably damaging	Het
Or3a1d	C	A	11: 74,237,769 (GRCm39)	V214L	probably benign	Het
Or4c107	A	G	2: 88,788,930 (GRCm39)	N40S	probably damaging	Het
Or8b44	T	A	9: 38,410,319 (GRCm39)	M118K	probably damaging	Het
Or8u9	T	A	2: 86,002,015 (GRCm39)	I49F	probably damaging	Het
Osbpl8	T	A	10: 111,040,661 (GRCm39)	M1K	probably null	Het
Pcdhb22	A	C	18: 37,652,087 (GRCm39)	D185A	possibly damaging	Het
Pcdhga8	G	T	18: 37,949,457 (GRCm39)	R291L	probably damaging	Het
Saysd1	A	T	14: 20,127,672 (GRCm39)	L84Q	possibly damaging	Het
Slc41a1	T	C	1: 131,758,508 (GRCm39)	I50T	probably benign	Het
Smg7	G	A	1: 152,720,020 (GRCm39)	P834S	probably benign	Het
Speer4a1	C	T	5: 26,243,210 (GRCm39)	V92M	probably damaging	Het
Srf	T	C	17: 46,860,400 (GRCm39)	T461A	probably benign	Het
Ssu72	A	G	4: 155,800,053 (GRCm39)	D72G	possibly damaging	Het
Suco	T	C	1: 161,661,761 (GRCm39)	E890G	probably damaging	Het
Tenm3	A	G	8: 48,763,656 (GRCm39)		probably null	Het
Tm6sf1	A	G	7: 81,515,091 (GRCm39)	E7G	probably null	Het
Tm9sf2	A	G	14: 122,378,616 (GRCm39)	K240R	probably benign	Het
Tmem52	T	A	4: 155,554,825 (GRCm39)	Y149*	probably null	Het
Tpgs2	A	T	18: 25,284,305 (GRCm39)	Y68N	possibly damaging	Het
Vmn1r205	T	A	13: 22,777,074 (GRCm39)	E9D	probably benign	Het
Vmn2r32	A	G	7: 7,482,953 (GRCm39)	V7A	possibly damaging	Het
Vmn2r80	T	C	10: 79,030,156 (GRCm39)	Y661H	possibly damaging	Het
Vps39	G	A	2: 120,152,312 (GRCm39)		probably benign	Het
Vwde	A	T	6: 13,196,047 (GRCm39)	V326D	possibly damaging	Het
Zfp641	T	A	15: 98,186,598 (GRCm39)	S342C	probably damaging	Het
Zfp961	T	C	8: 72,722,847 (GRCm39)		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GCCTTCCTATGCCCAGAAGAAC -3'
(R):5'- GTCATTCAGAAAGTCTTCCTGCAG -3'

Sequencing Primer
(F):5'- GAACACAAGATCCTTCTGTTAAAGAC -3'
(R):5'- GTCTTCCTGCAGATATACTTTACAG -3'

Posted On

2016-03-01