Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02105:Glb1l3'

279951

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Glb1l3

Ensembl Gene

ENSMUSG00000031966

Gene Name

galactosidase, beta 1 like 3

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL02105

Quality Score

Status

Chromosome

Chromosomal Location

26817953-26860890 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26818527 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 516 (I516F)

Ref Sequence

ENSEMBL: ENSMUSP00000034448 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034448] [ENSMUST00000210274]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034448
AA Change: I516F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034448
Gene: ENSMUSG00000031966
AA Change: I516F

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_35	1	304	1.5e-110	PFAM
Pfam:Glyco_hydro_42	7	160	6.2e-11	PFAM
low complexity region	309	318	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000210274
AA Change: I591F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211353

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	G	T	3: 95,680,064	P734H	probably damaging	Het
Arfip2	A	T	7: 105,639,383	I14N	probably damaging	Het
Asap3	G	T	4: 136,228,474		probably null	Het
Atg2a	T	A	19: 6,250,403		probably benign	Het
Bbs12	T	C	3: 37,320,147	L248P	probably damaging	Het
Brd3	A	T	2: 27,459,776	I255N	probably damaging	Het
Ccdc141	A	G	2: 77,049,577		probably null	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Chd9	T	A	8: 90,932,488	D25E	probably damaging	Het
Cobl	T	C	11: 12,249,651	K1325R	probably damaging	Het
Dnmt1	T	A	9: 20,907,882	E1486V	unknown	Het
Dock2	T	C	11: 34,714,525	N256D	probably damaging	Het
Dpp3	G	A	19: 4,916,771	S408L	probably damaging	Het
Dync2h1	C	T	9: 7,075,892	G2992R	probably damaging	Het
Eef1a1	T	C	9: 78,480,551	D35G	probably benign	Het
Fntb	A	G	12: 76,862,489	K84E	probably benign	Het
Gfi1	A	G	5: 107,723,722		probably null	Het
Hltf	A	G	3: 20,092,757	N560S	probably damaging	Het
Kif21b	A	G	1: 136,171,303	N1443S	probably benign	Het
Knl1	T	A	2: 119,071,808	I1330K	probably benign	Het
Krt20	C	T	11: 99,438,001	V33M	probably benign	Het
Lao1	A	G	4: 118,968,443	T487A	probably damaging	Het
Larp4	A	G	15: 99,986,071	E63G	probably damaging	Het
Lrp1	A	G	10: 127,544,579	V3901A	probably damaging	Het
Lrrc17	A	G	5: 21,570,257	I272M	probably benign	Het
Malrd1	A	T	2: 16,127,863	Q1865L	unknown	Het
Mtg1	T	C	7: 140,150,206	L305P	probably damaging	Het
Mylk4	T	A	13: 32,720,562	E427D	probably benign	Het
Myom1	G	T	17: 71,047,716		probably benign	Het
Nbeal1	A	G	1: 60,253,501	E1104G	probably damaging	Het
Obox5	A	G	7: 15,758,575	M152V	probably benign	Het
Olfm2	C	T	9: 20,672,180	V203M	probably damaging	Het
Olfr166	T	G	16: 19,487,261	L141R	probably benign	Het
Olfr876	A	T	9: 37,804,595	H228L	possibly damaging	Het
Pf4	A	G	5: 90,773,255	S105G	probably damaging	Het
Phlpp2	T	A	8: 109,904,408	I228N	probably damaging	Het
Sall1	T	G	8: 89,032,568	S303R	probably damaging	Het
Setd5	A	G	6: 113,117,580	E486G	probably damaging	Het
Slc9a5	C	T	8: 105,349,443	P23S	probably damaging	Het
Tbc1d9b	T	A	11: 50,149,826	I390N	probably damaging	Het
Trp53	T	C	11: 69,588,503	V169A	probably damaging	Het
Usp4	A	G	9: 108,384,932	D791G	probably damaging	Het
Vmn1r76	A	G	7: 11,930,490	S266P	possibly damaging	Het
Vmn2r27	A	G	6: 124,197,349		probably benign	Het
Xirp1	C	T	9: 120,016,997	G940E	probably damaging	Het
Zfp407	A	T	18: 84,562,720	C89*	probably null	Het

Other mutations in Glb1l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Glb1l3	APN	9	26853671	missense	probably damaging	1.00
IGL00537:Glb1l3	APN	9	26829050	missense	probably damaging	1.00
IGL01139:Glb1l3	APN	9	26818227	missense	probably benign	0.00
IGL01397:Glb1l3	APN	9	26825195	missense	probably benign
IGL01603:Glb1l3	APN	9	26859536	missense	probably damaging	1.00
IGL01938:Glb1l3	APN	9	26818529	missense	probably damaging	0.98
IGL02051:Glb1l3	APN	9	26825168	missense	probably benign	0.39
IGL02132:Glb1l3	APN	9	26825170	missense	probably benign	0.07
IGL02249:Glb1l3	APN	9	26831268	missense	possibly damaging	0.60
IGL02363:Glb1l3	APN	9	26853644	missense	probably damaging	1.00
IGL02824:Glb1l3	APN	9	26850109	missense	probably damaging	1.00
IGL02938:Glb1l3	APN	9	26826759	missense	probably benign	0.26
IGL03181:Glb1l3	APN	9	26828363	splice site	probably null
IGL03288:Glb1l3	APN	9	26818305	missense	probably damaging	0.99
IGL03299:Glb1l3	APN	9	26859452	missense	probably damaging	1.00
R0479:Glb1l3	UTSW	9	26829093	missense	probably benign	0.31
R4036:Glb1l3	UTSW	9	26829047	missense	probably damaging	1.00
R4037:Glb1l3	UTSW	9	26829047	missense	probably damaging	1.00
R4038:Glb1l3	UTSW	9	26829047	missense	probably damaging	1.00
R4039:Glb1l3	UTSW	9	26829047	missense	probably damaging	1.00
R4797:Glb1l3	UTSW	9	26828446	missense	probably damaging	0.96
R4840:Glb1l3	UTSW	9	26829053	missense	probably benign	0.06
R5645:Glb1l3	UTSW	9	26824826	missense	probably benign
R5907:Glb1l3	UTSW	9	26826383	missense	probably damaging	1.00
R5916:Glb1l3	UTSW	9	26854736	missense	probably benign	0.20
R6428:Glb1l3	UTSW	9	26859452	missense	probably damaging	1.00
R6489:Glb1l3	UTSW	9	26826831	missense	probably benign	0.31
R6532:Glb1l3	UTSW	9	26818442	missense	probably benign	0.02
R6560:Glb1l3	UTSW	9	26828424	splice site	probably null
R6653:Glb1l3	UTSW	9	26859588	missense	probably benign	0.09
R6802:Glb1l3	UTSW	9	26859352	splice site	probably null
R7347:Glb1l3	UTSW	9	26829003	missense	probably benign
R7531:Glb1l3	UTSW	9	26853654	missense	possibly damaging	0.62
R7542:Glb1l3	UTSW	9	26818195	missense	possibly damaging	0.70
R7725:Glb1l3	UTSW	9	26828363	splice site	probably null
Z1177:Glb1l3	UTSW	9	26818245	missense	probably damaging	1.00

Posted On

2015-04-16