Mutagenetix > Incidental Mutation

Incidental Mutation 'R8745:Gba1'

663470

Institutional Source

Beutler Lab

Gene Symbol

Gba1

Ensembl Gene

ENSMUSG00000028048

Gene Name

glucosylceramidase beta 1

Synonyms

Gba, betaGC, GC, GBA1, glucocerebrosidase, GCase

MMRRC Submission

068589-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.807) question?

Stock #

R8745 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89110235-89116273 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89115180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 404 (N404I)

Ref Sequence

ENSEMBL: ENSMUSP00000076589 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073572] [ENSMUST00000077367] [ENSMUST00000118964] [ENSMUST00000152789] [ENSMUST00000167998] [ENSMUST00000174126] [ENSMUST00000197738]

AlphaFold

P17439

Predicted Effect

probably benign
Transcript: ENSMUST00000073572

SMART Domains

Protein: ENSMUSP00000073261
Gene: ENSMUSG00000064068

Domain	Start	End	E-Value	Type
low complexity region	94	109	N/A	INTRINSIC
Pfam:Tom37	151	219	4.2e-21	PFAM
Pfam:Tom37_C	239	317	8.1e-24	PFAM
Pfam:GST_C_3	267	383	1.7e-11	PFAM
Pfam:GST_C_2	270	377	2.7e-8	PFAM
Pfam:Tom37_C	300	369	1.1e-14	PFAM
low complexity region	396	415	N/A	INTRINSIC
transmembrane domain	416	438	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000077367
AA Change: N404I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076589
Gene: ENSMUSG00000028048
AA Change: N404I

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Glyco_hydro_30	20	512	1.4e-252	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118964

SMART Domains

Protein: ENSMUSP00000114009
Gene: ENSMUSG00000064068

Domain	Start	End	E-Value	Type
low complexity region	94	109	N/A	INTRINSIC
Pfam:Tom37	151	219	5.9e-21	PFAM
Pfam:Tom37_C	216	287	6.3e-19	PFAM
Pfam:GST_C_3	216	352	5.1e-11	PFAM
Pfam:GST_C_2	238	344	1.9e-8	PFAM
Pfam:Tom37_C	269	338	9.5e-15	PFAM
low complexity region	365	384	N/A	INTRINSIC
transmembrane domain	385	407	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119222

SMART Domains

Protein: ENSMUSP00000113986
Gene: ENSMUSG00000064068

Domain	Start	End	E-Value	Type
Pfam:Tom37	12	57	1.6e-11	PFAM
Pfam:Tom37_C	138	216	5.4e-24	PFAM
Pfam:GST_C_3	166	282	1.1e-11	PFAM
Pfam:GST_C_2	169	276	1.8e-8	PFAM
Pfam:Tom37_C	199	268	7.2e-15	PFAM
low complexity region	295	314	N/A	INTRINSIC
transmembrane domain	315	337	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129055

Predicted Effect

probably benign
Transcript: ENSMUST00000152789

Predicted Effect

probably damaging
Transcript: ENSMUST00000167998
AA Change: N404I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130660
Gene: ENSMUSG00000028048
AA Change: N404I

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Glyco_hydro_30	20	512	1.4e-252	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173465

Predicted Effect

probably benign
Transcript: ENSMUST00000173475

SMART Domains

Protein: ENSMUSP00000134110
Gene: ENSMUSG00000064068

Domain	Start	End	E-Value	Type
low complexity region	12	31	N/A	INTRINSIC
low complexity region	97	116	N/A	INTRINSIC
transmembrane domain	117	139	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173477

SMART Domains

Protein: ENSMUSP00000133282
Gene: ENSMUSG00000064068

Domain	Start	End	E-Value	Type
Pfam:Tom37	1	58	8.5e-16	PFAM
Pfam:Tom37_C	77	155	9.7e-24	PFAM
Pfam:GST_C_3	104	221	8.2e-12	PFAM
Pfam:GST_C_2	107	216	7.5e-9	PFAM
Pfam:Tom37_C	138	207	1.3e-14	PFAM
low complexity region	234	253	N/A	INTRINSIC
transmembrane domain	254	276	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173593

SMART Domains

Protein: ENSMUSP00000133866
Gene: ENSMUSG00000064068

Domain	Start	End	E-Value	Type
Pfam:Tom37	14	82	1.1e-21	PFAM
Pfam:Tom37_C	102	178	3.4e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174126

SMART Domains

Protein: ENSMUSP00000133291
Gene: ENSMUSG00000064068

Domain	Start	End	E-Value	Type
Pfam:Tom37_C	1	74	7.6e-23	PFAM
Pfam:GST_C_3	7	143	7.3e-12	PFAM
Pfam:GST_C_2	26	137	2.8e-9	PFAM
Pfam:Tom37_C	61	129	6.2e-15	PFAM
low complexity region	159	169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197738

SMART Domains

Protein: ENSMUSP00000142401
Gene: ENSMUSG00000028048

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Glyco_hydro_30	20	388	1e-186	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mutations in this locus variably lower enzyme activity and result in accumulated glucocerebroside in reticuloendotehelial cell lysosomes and glucosylceramide in brain, liver and skin. Severe mutants die perinatally with compromised epidermal permeability. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	A	G	19: 20,611,807 (GRCm39)	N377S	probably benign	Het
Aldh3b3	A	T	19: 4,014,890 (GRCm39)	Y129F	possibly damaging	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Ankrd61	G	A	5: 143,828,237 (GRCm39)	S246L	possibly damaging	Het
Ccdc187	T	A	2: 26,170,526 (GRCm39)	I651F	probably damaging	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Ceacam13	T	A	7: 17,743,934 (GRCm39)	S14T	probably damaging	Het
Cfap58	A	T	19: 47,929,553 (GRCm39)	K5*	probably null	Het
Col27a1	T	C	4: 63,144,153 (GRCm39)	S614P	probably benign	Het
Crlf3	T	A	11: 79,955,100 (GRCm39)	E85D	probably damaging	Het
Dennd2b	T	A	7: 109,156,279 (GRCm39)	H157L	probably benign	Het
Dlat	G	T	9: 50,560,967 (GRCm39)	A360E	probably damaging	Het
Dnah7b	A	G	1: 46,221,624 (GRCm39)	I1243V	possibly damaging	Het
Dnajc22	A	G	15: 98,999,345 (GRCm39)	T177A	probably benign	Het
Dytn	A	T	1: 63,686,606 (GRCm39)	C355S	probably benign	Het
Efcab3	C	T	11: 104,749,304 (GRCm39)	T2340M	possibly damaging	Het
Ehbp1	T	C	11: 22,119,064 (GRCm39)	N202S	possibly damaging	Het
Exoc3l2	T	C	7: 19,215,212 (GRCm39)	I491T	unknown	Het
Fam135a	G	A	1: 24,067,569 (GRCm39)	T1100M	probably benign	Het
Fam53a	A	T	5: 33,767,781 (GRCm39)	I43N	probably damaging	Het
Fis1	G	T	5: 136,982,365 (GRCm39)		probably benign	Het
Fn1	T	C	1: 71,676,528 (GRCm39)	T568A	probably benign	Het
Gsap	A	G	5: 21,474,949 (GRCm39)	Y536C	probably benign	Het
Hecw2	T	A	1: 53,972,330 (GRCm39)	E230V	probably damaging	Het
Heg1	A	G	16: 33,555,986 (GRCm39)	Q1046R	probably benign	Het
Kctd14	G	A	7: 97,107,445 (GRCm39)	W233*	probably null	Het
Krt88	T	C	15: 101,351,460 (GRCm39)	S156P	possibly damaging	Het
L3mbtl1	C	A	2: 162,812,137 (GRCm39)	H727Q	probably benign	Het
Man1c1	T	C	4: 134,303,295 (GRCm39)	K400E	probably damaging	Het
Map2	A	T	1: 66,452,556 (GRCm39)	Q482L	probably benign	Het
Map3k1	A	G	13: 111,893,306 (GRCm39)	V733A	probably damaging	Het
Map4k1	G	A	7: 28,686,542 (GRCm39)	D155N	probably damaging	Het
Map4k3	G	A	17: 80,944,164 (GRCm39)	R328C	possibly damaging	Het
Marchf7	C	T	2: 60,067,153 (GRCm39)	Q558*	probably null	Het
Mepe	T	C	5: 104,485,525 (GRCm39)	S222P	possibly damaging	Het
Mfap3l	A	T	8: 61,124,958 (GRCm39)	N400I	possibly damaging	Het
Myom3	T	C	4: 135,522,509 (GRCm39)		probably null	Het
Nav3	T	C	10: 109,659,311 (GRCm39)	T769A	probably benign	Het
Ndufb7	T	A	8: 84,297,518 (GRCm39)	Y58N	probably damaging	Het
Nup160	T	C	2: 90,530,463 (GRCm39)	F445L	probably benign	Het
Or1e20-ps1	C	A	11: 73,324,848 (GRCm39)	*68L	probably null	Het
Or4c126	T	A	2: 89,824,076 (GRCm39)	M113K	probably damaging	Het
Or4p23	T	C	2: 88,576,408 (GRCm39)	I275V	possibly damaging	Het
Ovch2	G	A	7: 107,389,584 (GRCm39)	S321F	possibly damaging	Het
Pamr1	T	C	2: 102,441,924 (GRCm39)	L171P	probably damaging	Het
Pcdhga5	T	C	18: 37,828,974 (GRCm39)	V474A	possibly damaging	Het
Pcgf6	A	G	19: 47,039,159 (GRCm39)	S34P	probably benign	Het
Pitrm1	C	T	13: 6,603,238 (GRCm39)	P96L	probably damaging	Het
Polr1a	T	C	6: 71,931,755 (GRCm39)	F945L	probably damaging	Het
Ranbp1	A	G	16: 18,065,244 (GRCm39)	S21P	possibly damaging	Het
Rasgrp2	G	T	19: 6,463,949 (GRCm39)	R549L	probably damaging	Het
Rassf10	T	A	7: 112,554,083 (GRCm39)	L228Q	probably damaging	Het
Rho	A	T	6: 115,912,483 (GRCm39)	I275F	probably damaging	Het
Rrp9	T	C	9: 106,361,657 (GRCm39)	V400A	possibly damaging	Het
Satb2	A	G	1: 57,008,796 (GRCm39)	L62P	unknown	Het
Scmh1	T	A	4: 120,362,559 (GRCm39)	L265*	probably null	Het
Scn7a	A	G	2: 66,510,526 (GRCm39)	M1292T	probably benign	Het
Serpinb10	A	T	1: 107,474,542 (GRCm39)	T235S	probably benign	Het
Serpinb6c	A	G	13: 34,064,702 (GRCm39)	V214A	probably benign	Het
Sf3b3	A	G	8: 111,550,816 (GRCm39)	I616T	possibly damaging	Het
Shb	G	C	4: 45,458,319 (GRCm39)	R282G	probably benign	Het
Snx5	A	T	2: 144,103,932 (GRCm39)	S22T	probably benign	Het
Spata6	T	C	4: 111,636,476 (GRCm39)	F256L	probably benign	Het
Stab2	T	C	10: 86,805,213 (GRCm39)	H255R	probably benign	Het
Sva	T	A	6: 42,015,357 (GRCm39)	M1K	probably null	Het
Tdpoz4	A	T	3: 93,704,221 (GRCm39)	T173S	probably benign	Het
Tex9	T	C	9: 72,389,778 (GRCm39)	I111V	probably benign	Het
Tigd4	A	G	3: 84,501,874 (GRCm39)	I264V	probably benign	Het
Tmem182	C	T	1: 40,877,536 (GRCm39)	A137V	probably damaging	Het
Tnfrsf1a	A	G	6: 125,338,745 (GRCm39)	I385V	probably damaging	Het
Tnrc18	A	T	5: 142,773,202 (GRCm39)	F542L		Het
Tpbpa	G	A	13: 61,087,778 (GRCm39)	T86I	possibly damaging	Het
Trappc14	A	G	5: 138,261,327 (GRCm39)		probably null	Het
Ubr5	G	A	15: 38,025,039 (GRCm39)	P573L		Het
Usp54	A	G	14: 20,612,176 (GRCm39)	I880T	probably benign	Het
Vmn1r9	A	G	6: 57,048,767 (GRCm39)	I281V	probably benign	Het
Zfp456	C	A	13: 67,515,373 (GRCm39)	C111F	possibly damaging	Het

Other mutations in Gba1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02142:Gba1	APN	3	89,113,148 (GRCm39)	missense	probably damaging	1.00
IGL02661:Gba1	APN	3	89,110,834 (GRCm39)	missense	probably benign	0.02
IGL02832:Gba1	APN	3	89,110,809 (GRCm39)	missense	probably benign
R0308:Gba1	UTSW	3	89,115,671 (GRCm39)	missense	probably benign	0.00
R0811:Gba1	UTSW	3	89,111,307 (GRCm39)	missense	probably benign	0.01
R0812:Gba1	UTSW	3	89,111,307 (GRCm39)	missense	probably benign	0.01
R1517:Gba1	UTSW	3	89,113,455 (GRCm39)	missense	probably damaging	1.00
R2119:Gba1	UTSW	3	89,112,868 (GRCm39)	missense	probably benign	0.11
R4613:Gba1	UTSW	3	89,115,951 (GRCm39)	splice site	probably null
R5371:Gba1	UTSW	3	89,112,778 (GRCm39)	missense	probably benign	0.37
R5987:Gba1	UTSW	3	89,113,129 (GRCm39)	missense	probably damaging	0.98
R6469:Gba1	UTSW	3	89,111,388 (GRCm39)	missense	probably benign	0.12
R6470:Gba1	UTSW	3	89,111,388 (GRCm39)	missense	probably benign	0.12
R6473:Gba1	UTSW	3	89,111,388 (GRCm39)	missense	probably benign	0.12
R6474:Gba1	UTSW	3	89,111,388 (GRCm39)	missense	probably benign	0.12
R6475:Gba1	UTSW	3	89,113,235 (GRCm39)	missense	probably benign	0.00
R6483:Gba1	UTSW	3	89,115,910 (GRCm39)	missense	probably damaging	1.00
R7190:Gba1	UTSW	3	89,111,669 (GRCm39)	missense	probably damaging	1.00
R9533:Gba1	UTSW	3	89,114,756 (GRCm39)	missense	probably benign	0.03
R9708:Gba1	UTSW	3	89,112,801 (GRCm39)	missense	probably damaging	1.00
Z1176:Gba1	UTSW	3	89,111,312 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACAGTCCTCACCTCCTCAGATG -3'
(R):5'- TGCCACCCTAGAAACCTTCCTG -3'

Sequencing Primer
(F):5'- TCCTGTGATCCTTGACTG -3'
(R):5'- ACAGGATGATGTAAGCCTGATAC -3'

Posted On

2021-03-08