Mutagenetix > Incidental Mutation

Incidental Mutation 'R6191:Galc'

502589

Institutional Source

Beutler Lab

Gene Symbol

Galc

Ensembl Gene

ENSMUSG00000021003

Gene Name

galactosylceramidase

Synonyms

2310068B06Rik, Gacy, A930008M05Rik, galactocerebrosidase

MMRRC Submission

044331-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6191 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98168553-98225718 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98218293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 186 (H186Q)

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 damaging
Transcript: ENSMUST00000021390
AA Change: H186Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021390
Gene: ENSMUSG00000021003
AA Change: H186Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221322

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222042

Meta Mutation Damage Score

0.9540

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (84/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	C	9: 55,909,807 (GRCm39)	D144E	possibly damaging	Het
Amigo2	T	A	15: 97,143,419 (GRCm39)	K334N	probably benign	Het
Ano6	T	C	15: 95,846,380 (GRCm39)		probably null	Het
Ap1m2	C	A	9: 21,210,601 (GRCm39)	V343F	probably benign	Het
Apol6	T	C	15: 76,940,098 (GRCm39)	V307A	probably benign	Het
Arsi	C	A	18: 61,045,544 (GRCm39)	A78E	probably damaging	Het
B2m	A	T	2: 121,981,396 (GRCm39)	N37I	possibly damaging	Het
Bltp3b	G	T	10: 89,641,180 (GRCm39)	G784C	possibly damaging	Het
C8a	T	C	4: 104,703,100 (GRCm39)	K363R	probably benign	Het
Ccdc117	C	A	11: 5,484,242 (GRCm39)		probably null	Het
Ccdc154	C	A	17: 25,386,945 (GRCm39)	Q325K	probably damaging	Het
Cd300e	A	T	11: 114,945,359 (GRCm39)	V145E	possibly damaging	Het
Col19a1	G	T	1: 24,356,474 (GRCm39)	P673Q	probably damaging	Het
Csn2	A	G	5: 87,843,885 (GRCm39)		probably null	Het
Ctnna1	T	C	18: 35,307,408 (GRCm39)	V135A	probably damaging	Het
Dnah11	T	A	12: 118,154,632 (GRCm39)	D216V	probably benign	Het
Dnah12	A	G	14: 26,431,412 (GRCm39)	H410R	probably benign	Het
Dock2	C	T	11: 34,181,652 (GRCm39)	R1637H	possibly damaging	Het
Dspp	A	G	5: 104,325,214 (GRCm39)	N526D	unknown	Het
Frem2	T	C	3: 53,562,701 (GRCm39)	H602R	probably benign	Het
Grina	T	C	15: 76,133,218 (GRCm39)	V262A	probably damaging	Het
Gse1	G	A	8: 121,280,542 (GRCm39)		probably null	Het
H2-Oa	C	A	17: 34,312,842 (GRCm39)	Q40K	probably damaging	Het
Hfm1	C	A	5: 107,034,419 (GRCm39)	D763Y	possibly damaging	Het
Hmcn2	T	A	2: 31,348,758 (GRCm39)	Y4925N	probably damaging	Het
Hs3st3b1	C	A	11: 63,780,029 (GRCm39)	R366L	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Iqank1	T	C	15: 75,918,218 (GRCm39)		probably null	Het
Itpr2	A	G	6: 146,229,833 (GRCm39)	V1221A	probably benign	Het
Kdm6b	T	C	11: 69,297,584 (GRCm39)	N285S	probably benign	Het
Klk1b1	T	A	7: 43,620,081 (GRCm39)	N181K	probably damaging	Het
Kmt2a	C	A	9: 44,738,125 (GRCm39)		probably benign	Het
Lama5	T	C	2: 179,827,752 (GRCm39)	D2170G	probably damaging	Het
Lama5	T	A	2: 179,822,404 (GRCm39)	T2890S	probably damaging	Het
Lsm2	T	A	17: 35,201,131 (GRCm39)		probably benign	Het
Map3k5	G	T	10: 19,899,415 (GRCm39)	C232F	probably damaging	Het
Mapk9	T	G	11: 49,754,383 (GRCm39)	D45E	probably damaging	Het
Mpnd	T	C	17: 56,319,482 (GRCm39)	V315A	possibly damaging	Het
Msh2	A	G	17: 88,030,900 (GRCm39)	I926V	probably benign	Het
Mtcl1	C	T	17: 66,650,521 (GRCm39)	R1345H	probably damaging	Het
Nbeal2	A	G	9: 110,457,058 (GRCm39)		probably null	Het
Neo1	T	C	9: 58,796,312 (GRCm39)	D1205G	probably damaging	Het
Nhlrc2	A	G	19: 56,559,291 (GRCm39)	S259G	probably benign	Het
Nkain4	G	A	2: 180,577,796 (GRCm39)	P186L	probably damaging	Het
Nkain4	G	A	2: 180,577,797 (GRCm39)	P186S	probably damaging	Het
Nlrp1b	T	A	11: 71,109,283 (GRCm39)	R73*	probably null	Het
Nr5a2	T	C	1: 136,818,536 (GRCm39)	D330G	probably damaging	Het
Nup54	A	G	5: 92,572,153 (GRCm39)	L299P	probably damaging	Het
Or2v1	T	C	11: 49,025,877 (GRCm39)	L286P	probably damaging	Het
Or5aq7	A	G	2: 86,938,296 (GRCm39)	V145A	probably damaging	Het
Pcdhb8	T	A	18: 37,489,279 (GRCm39)	V319E	probably benign	Het
Pcsk6	T	A	7: 65,578,875 (GRCm39)	D129E	probably benign	Het
Pld5	G	A	1: 175,798,100 (GRCm39)	T433I	probably benign	Het
Plin1	A	T	7: 79,371,347 (GRCm39)	L459H	probably benign	Het
Psd4	T	C	2: 24,284,499 (GRCm39)	V121A	probably damaging	Het
Pxdn	A	T	12: 30,032,716 (GRCm39)	I167F	possibly damaging	Het
R3hdm2	T	C	10: 127,320,384 (GRCm39)	S569P	probably damaging	Het
Rfng	T	A	11: 120,673,516 (GRCm39)	T202S	probably damaging	Het
Robo1	T	C	16: 72,730,696 (GRCm39)	S266P	probably benign	Het
Sema3c	G	T	5: 17,858,804 (GRCm39)	V68L	probably damaging	Het
Slco6c1	C	T	1: 96,993,808 (GRCm39)	R645H	possibly damaging	Het
Slfn8	A	G	11: 82,907,626 (GRCm39)	Y306H	possibly damaging	Het
Snap91	T	C	9: 86,720,105 (GRCm39)	D144G	probably damaging	Het
St7l	T	G	3: 104,775,349 (GRCm39)	F75C	probably damaging	Het
Stard10	A	G	7: 100,992,468 (GRCm39)	I145V	probably damaging	Het
Tekt3	C	T	11: 62,968,999 (GRCm39)	A242V	probably damaging	Het
Tex44	A	G	1: 86,354,306 (GRCm39)		probably benign	Het
Thg1l	T	C	11: 45,844,988 (GRCm39)	Q88R	probably benign	Het
Trav8n-2	T	A	14: 53,583,744 (GRCm39)	I67N	probably damaging	Het
Ttn	G	A	2: 76,677,770 (GRCm39)		probably benign	Het
Ube4a	A	T	9: 44,861,051 (GRCm39)	L253*	probably null	Het
Uggt1	A	T	1: 36,201,289 (GRCm39)	N1150K	probably damaging	Het
Ush2a	T	A	1: 187,995,298 (GRCm39)	L23*	probably null	Het
Usp22	T	A	11: 61,065,602 (GRCm39)	N37I	probably benign	Het
Usp53	T	A	3: 122,743,390 (GRCm39)	K515N	probably damaging	Het
Vmn2r4	T	C	3: 64,322,702 (GRCm39)	K6E	probably benign	Het
Vps13d	C	T	4: 144,875,918 (GRCm39)	V1530M	probably damaging	Het
Vwa3b	A	G	1: 37,153,612 (GRCm39)	I485V	possibly damaging	Het
Wnk4	T	C	11: 101,155,156 (GRCm39)	Y356H	probably damaging	Het
Zcchc2	A	G	1: 105,917,900 (GRCm39)		probably benign	Het
Zfp345	A	C	2: 150,315,010 (GRCm39)	Y176D	probably benign	Het
Zfp598	T	C	17: 24,896,850 (GRCm39)	F238S	possibly damaging	Het
Zkscan17	T	C	11: 59,393,820 (GRCm39)	D10G	probably damaging	Het
Zmat4	T	G	8: 24,392,083 (GRCm39)	M13R	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
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
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'- ACCCTGTTATGGTGTTATGCAAC -3'
(R):5'- GCTGTCAGGATTAGTAAGAAATCTTGG -3'

Sequencing Primer
(F):5'- GCAACATGCAAAGAGTATTTCTATAC -3'
(R):5'- GGGGTCTCTCCTTTCAGCCAG -3'

Posted On

2018-02-27