Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02372:Glb1l2'

290978

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Glb1l2

Ensembl Gene

ENSMUSG00000036395

Gene Name

galactosidase, beta 1-like 2

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL02372

Quality Score

Status

Chromosome

Chromosomal Location

26763044-26806468 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 26796476 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 72 (R72C)

Ref Sequence

ENSEMBL: ENSMUSP00000123830 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040398] [ENSMUST00000066560] [ENSMUST00000162252] [ENSMUST00000162378] [ENSMUST00000162702]

Predicted Effect

probably damaging
Transcript: ENSMUST00000040398
AA Change: R88C

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

SMART Domains

Protein: ENSMUSP00000047128
Gene: ENSMUSG00000036395
AA Change: R88C

Domain	Start	End	E-Value	Type
transmembrane domain	13	30	N/A	INTRINSIC
Pfam:Glyco_hydro_35	52	384	6.6e-118	PFAM
Pfam:Glyco_hydro_42	84	243	6.6e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000066560
AA Change: R72C

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

SMART Domains

Protein: ENSMUSP00000066770
Gene: ENSMUSG00000036395
AA Change: R72C

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
Pfam:Glyco_hydro_35	53	368	6.3e-121	PFAM
Pfam:Glyco_hydro_42	68	227	6.2e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161635

Predicted Effect

probably damaging
Transcript: ENSMUST00000162252
AA Change: R79C

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

SMART Domains

Protein: ENSMUSP00000124415
Gene: ENSMUSG00000036395
AA Change: R79C

Domain	Start	End	E-Value	Type
low complexity region	11	29	N/A	INTRINSIC
Pfam:Glyco_hydro_35	60	375	5.3e-121	PFAM
Pfam:Glyco_hydro_42	75	234	5.4e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000162378
AA Change: R72C

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

SMART Domains

Protein: ENSMUSP00000123830
Gene: ENSMUSG00000036395
AA Change: R72C

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
Pfam:Glyco_hydro_35	53	190	1.8e-61	PFAM
Pfam:Glyco_hydro_42	68	183	9.5e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162702

SMART Domains

Protein: ENSMUSP00000125022
Gene: ENSMUSG00000036395

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_35	27	247	1.4e-67	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216272

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutant mice show decreased mean white blood cell and lymphocyte counts and a decreased mean percentage of natural killer cells. Male mutant mice exhibit impaired glucose tolerance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	A	T	11: 97,775,699	Y54N	probably damaging	Het
Alyref	A	G	11: 120,594,875		probably benign	Het
Ankrd27	A	G	7: 35,633,036		probably null	Het
Arc	A	G	15: 74,672,105	S90P	probably damaging	Het
Atp6v1e1	T	A	6: 120,801,123	K150N	probably benign	Het
Atrn	T	C	2: 131,002,754		probably benign	Het
Ccnb1	A	G	13: 100,781,316	Y259H	probably damaging	Het
Celsr1	A	G	15: 85,929,907	V1938A	probably benign	Het
Ckmt2	A	G	13: 91,865,224	V37A	probably benign	Het
Dpys	G	T	15: 39,793,271	P467T	probably benign	Het
Ehbp1l1	T	C	19: 5,710,834	T1535A	possibly damaging	Het
Eif4enif1	T	C	11: 3,229,986	L302P	probably benign	Het
Faf1	T	G	4: 109,935,582	F584V	probably benign	Het
Gm9892	T	C	8: 52,196,836		noncoding transcript	Het
Hecw1	G	T	13: 14,264,121	D892E	probably damaging	Het
Hr	A	G	14: 70,558,350	E474G	possibly damaging	Het
Ltbp1	T	G	17: 75,252,406	F297V	probably damaging	Het
Myc	A	G	15: 61,987,858	N127D	probably damaging	Het
Nbn	T	A	4: 15,986,613	N671K	probably benign	Het
Nup210l	C	A	3: 90,201,971	T1607N	possibly damaging	Het
Olfr281	A	T	15: 98,456,828	T173S	probably damaging	Het
Osbpl1a	T	A	18: 12,841,313	K22*	probably null	Het
Phf20l1	T	C	15: 66,641,801	L942P	probably damaging	Het
Plekhg5	C	T	4: 152,102,080	R40W	probably damaging	Het
Pomt2	C	T	12: 87,122,835		probably benign	Het
Rab3gap1	A	G	1: 127,919,561		probably benign	Het
Sbk1	T	C	7: 126,291,058	L81P	probably damaging	Het
Scrib	G	A	15: 76,048,255	P1524S	probably damaging	Het
Smpdl3a	T	A	10: 57,807,515	N240K	probably benign	Het
Smyd4	A	T	11: 75,390,285	K195*	probably null	Het
Tulp3	A	T	6: 128,327,598	M231K	possibly damaging	Het
Zfp87	A	G	13: 67,520,620		probably benign	Het

Other mutations in Glb1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01714:Glb1l2	APN	9	26768418	critical splice donor site	probably null
IGL02045:Glb1l2	APN	9	26796545	missense	probably benign	0.00
IGL02172:Glb1l2	APN	9	26769086	missense	probably damaging	0.98
IGL02831:Glb1l2	APN	9	26767450	missense	probably benign	0.00
IGL03057:Glb1l2	APN	9	26806290	splice site	probably benign
IGL03101:Glb1l2	APN	9	26765125	missense	probably damaging	1.00
IGL03348:Glb1l2	APN	9	26765680	missense	probably benign
P4717OSA:Glb1l2	UTSW	9	26766021	missense	probably damaging	1.00
PIT4362001:Glb1l2	UTSW	9	26773981	missense	probably benign	0.05
R0219:Glb1l2	UTSW	9	26806322	missense	probably benign	0.33
R0414:Glb1l2	UTSW	9	26765104	nonsense	probably null
R0418:Glb1l2	UTSW	9	26794101	missense	probably damaging	1.00
R0791:Glb1l2	UTSW	9	26769751	missense	possibly damaging	0.96
R1165:Glb1l2	UTSW	9	26794101	missense	probably damaging	1.00
R1514:Glb1l2	UTSW	9	26769124	splice site	probably benign
R1589:Glb1l2	UTSW	9	26769038	nonsense	probably null
R1926:Glb1l2	UTSW	9	26771066	missense	probably damaging	0.96
R2928:Glb1l2	UTSW	9	26768426	missense	probably benign	0.10
R3441:Glb1l2	UTSW	9	26780742	missense	probably damaging	1.00
R3442:Glb1l2	UTSW	9	26780742	missense	probably damaging	1.00
R3706:Glb1l2	UTSW	9	26771020	splice site	probably benign
R3814:Glb1l2	UTSW	9	26771034	missense	probably benign	0.00
R5079:Glb1l2	UTSW	9	26771109	missense	probably benign
R5308:Glb1l2	UTSW	9	26764759	missense	probably damaging	1.00
R5310:Glb1l2	UTSW	9	26796866	intron	probably benign
R5746:Glb1l2	UTSW	9	26796790	missense	probably benign	0.01
R5969:Glb1l2	UTSW	9	26780742	missense	probably damaging	1.00
R5998:Glb1l2	UTSW	9	26766003	missense	possibly damaging	0.68
R6249:Glb1l2	UTSW	9	26765554	intron	probably benign
R6284:Glb1l2	UTSW	9	26767448	missense	probably benign	0.01
R6469:Glb1l2	UTSW	9	26796532	missense	probably benign	0.03
R7054:Glb1l2	UTSW	9	26765127	missense	probably null	0.51
R7916:Glb1l2	UTSW	9	26767424	missense	probably benign	0.05
R7921:Glb1l2	UTSW	9	26773968	splice site	probably null
R8103:Glb1l2	UTSW	9	26765684	missense	probably benign
R8354:Glb1l2	UTSW	9	26806417	start gained	probably benign
R8454:Glb1l2	UTSW	9	26806417	start gained	probably benign
R8485:Glb1l2	UTSW	9	26767740	missense	probably benign	0.00
X0020:Glb1l2	UTSW	9	26767733	missense	possibly damaging	0.88

Posted On

2015-04-16