Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03057:Glb1l2'

409309

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Glb1l2

Ensembl Gene

ENSMUSG00000036395

Gene Name

galactosidase, beta 1-like 2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL03057

Quality Score

Status

Chromosome

Chromosomal Location

26674340-26717764 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 26717586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125022 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040398

SMART Domains

Protein: ENSMUSP00000047128
Gene: ENSMUSG00000036395

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 benign
Transcript: ENSMUST00000066560

SMART Domains

Protein: ENSMUSP00000066770
Gene: ENSMUSG00000036395

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

probably benign
Transcript: ENSMUST00000162252

SMART Domains

Protein: ENSMUSP00000124415
Gene: ENSMUSG00000036395

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 benign
Transcript: ENSMUST00000162378

SMART Domains

Protein: ENSMUSP00000123830
Gene: ENSMUSG00000036395

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,488,754 (GRCm39)	A1295V	possibly damaging	Het
Adgre4	T	C	17: 56,106,602 (GRCm39)		probably benign	Het
Atp8b2	A	T	3: 89,851,493 (GRCm39)	Y901N	probably damaging	Het
Bud31	A	G	5: 145,083,378 (GRCm39)	T74A	probably benign	Het
C4b	C	A	17: 34,956,738 (GRCm39)		probably benign	Het
Ccdc92	G	A	5: 124,912,753 (GRCm39)	Q259*	probably null	Het
Ccn4	T	C	15: 66,763,489 (GRCm39)		probably benign	Het
Chfr	C	A	5: 110,291,475 (GRCm39)	Q98K	probably benign	Het
Ciita	T	A	16: 10,338,823 (GRCm39)		probably benign	Het
Cnbd2	A	T	2: 156,209,592 (GRCm39)	I512F	possibly damaging	Het
Cpa2	A	G	6: 30,557,726 (GRCm39)	Y346C	probably damaging	Het
Cpxm1	A	G	2: 130,235,109 (GRCm39)	L570P	probably damaging	Het
Cylc1	G	A	X: 110,166,370 (GRCm39)	G217D	unknown	Het
Dennd2a	T	C	6: 39,485,182 (GRCm39)	I366V	probably damaging	Het
Dis3	A	T	14: 99,327,426 (GRCm39)	M359K	possibly damaging	Het
Dock10	T	C	1: 80,545,088 (GRCm39)	N848S	probably damaging	Het
Dyrk3	C	T	1: 131,056,815 (GRCm39)	V453I	probably benign	Het
Ercc5	A	G	1: 44,206,161 (GRCm39)	E358G	probably damaging	Het
Fam167b	C	A	4: 129,471,960 (GRCm39)	C70F	possibly damaging	Het
Flt1	G	T	5: 147,618,734 (GRCm39)	Y200*	probably null	Het
Garin4	A	T	1: 190,895,141 (GRCm39)	S501T	probably benign	Het
Ggh	T	C	4: 20,065,770 (GRCm39)	V288A	probably benign	Het
Gm28042	A	G	2: 119,862,637 (GRCm39)	Y302C	probably damaging	Het
Gsta2	A	G	9: 78,241,192 (GRCm39)		probably benign	Het
Idh3b	T	A	2: 130,126,321 (GRCm39)	N6I	probably benign	Het
Irs4	A	G	X: 140,505,524 (GRCm39)	S891P	unknown	Het
Kcmf1	G	T	6: 72,820,010 (GRCm39)	R330S	probably benign	Het
Kif26a	G	T	12: 112,142,208 (GRCm39)	E821*	probably null	Het
L3mbtl1	A	G	2: 162,809,303 (GRCm39)	E670G	probably damaging	Het
Met	A	T	6: 17,558,765 (GRCm39)	D1131V	probably damaging	Het
Neo1	T	C	9: 58,785,342 (GRCm39)	E1428G	probably damaging	Het
Odf2	A	G	2: 29,813,657 (GRCm39)		probably benign	Het
Ogfod1	T	A	8: 94,782,766 (GRCm39)	L294H	possibly damaging	Het
Or8d1b	G	T	9: 38,887,514 (GRCm39)	V181F	probably benign	Het
Pcdhb20	A	T	18: 37,637,851 (GRCm39)	I126L	possibly damaging	Het
Pcdhb9	A	T	18: 37,534,330 (GRCm39)	Q108L	probably benign	Het
Prdm10	G	T	9: 31,260,481 (GRCm39)	R645L	probably damaging	Het
Psmb11	T	A	14: 54,863,236 (GRCm39)	C151*	probably null	Het
Reep1	T	A	6: 71,784,765 (GRCm39)		probably benign	Het
Reg3a	G	A	6: 78,358,939 (GRCm39)	A46T	possibly damaging	Het
Rnf213	T	A	11: 119,331,913 (GRCm39)	I2374N	probably damaging	Het
Slc17a7	T	C	7: 44,820,363 (GRCm39)	Y273H	probably damaging	Het
Smg6	T	A	11: 74,826,260 (GRCm39)	Y238*	probably null	Het
Sorcs1	T	A	19: 50,248,194 (GRCm39)	K411*	probably null	Het
Spta1	G	T	1: 174,008,624 (GRCm39)	A243S	probably benign	Het
Tas2r135	A	T	6: 42,378,061 (GRCm39)		probably benign	Het
Tbx18	T	C	9: 87,612,882 (GRCm39)	R6G	probably damaging	Het
Timp3	A	G	10: 86,136,815 (GRCm39)	D33G	possibly damaging	Het
Ttf1	A	G	2: 28,961,357 (GRCm39)	K582E	probably damaging	Het
Ubr5	C	A	15: 38,041,150 (GRCm39)		probably benign	Het
Ugt2b1	A	G	5: 87,074,200 (GRCm39)	V53A	possibly damaging	Het
Ush2a	G	T	1: 188,530,035 (GRCm39)	G3275W	probably damaging	Het
Usp19	G	A	9: 108,376,329 (GRCm39)	V1023M	probably benign	Het
Usp26	T	C	X: 50,846,135 (GRCm39)	I47V	possibly damaging	Het
Vapa	A	G	17: 65,901,902 (GRCm39)	V76A	probably damaging	Het
Vmn1r202	G	A	13: 22,685,640 (GRCm39)	T259I	probably benign	Het
Vps13a	T	C	19: 16,646,058 (GRCm39)	N1993S	probably damaging	Het
Wdr59	G	A	8: 112,202,750 (GRCm39)	R598C	probably damaging	Het

Other mutations in Glb1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01714:Glb1l2	APN	9	26,679,714 (GRCm39)	critical splice donor site	probably null
IGL02045:Glb1l2	APN	9	26,707,841 (GRCm39)	missense	probably benign	0.00
IGL02172:Glb1l2	APN	9	26,680,382 (GRCm39)	missense	probably damaging	0.98
IGL02372:Glb1l2	APN	9	26,707,772 (GRCm39)	missense	probably damaging	1.00
IGL02831:Glb1l2	APN	9	26,678,746 (GRCm39)	missense	probably benign	0.00
IGL03101:Glb1l2	APN	9	26,676,421 (GRCm39)	missense	probably damaging	1.00
IGL03348:Glb1l2	APN	9	26,676,976 (GRCm39)	missense	probably benign
P4717OSA:Glb1l2	UTSW	9	26,677,317 (GRCm39)	missense	probably damaging	1.00
PIT4362001:Glb1l2	UTSW	9	26,685,277 (GRCm39)	missense	probably benign	0.05
R0219:Glb1l2	UTSW	9	26,717,618 (GRCm39)	missense	probably benign	0.33
R0414:Glb1l2	UTSW	9	26,676,400 (GRCm39)	nonsense	probably null
R0418:Glb1l2	UTSW	9	26,705,397 (GRCm39)	missense	probably damaging	1.00
R0791:Glb1l2	UTSW	9	26,681,047 (GRCm39)	missense	possibly damaging	0.96
R1165:Glb1l2	UTSW	9	26,705,397 (GRCm39)	missense	probably damaging	1.00
R1514:Glb1l2	UTSW	9	26,680,420 (GRCm39)	splice site	probably benign
R1589:Glb1l2	UTSW	9	26,680,334 (GRCm39)	nonsense	probably null
R1926:Glb1l2	UTSW	9	26,682,362 (GRCm39)	missense	probably damaging	0.96
R2928:Glb1l2	UTSW	9	26,679,722 (GRCm39)	missense	probably benign	0.10
R3441:Glb1l2	UTSW	9	26,692,038 (GRCm39)	missense	probably damaging	1.00
R3442:Glb1l2	UTSW	9	26,692,038 (GRCm39)	missense	probably damaging	1.00
R3706:Glb1l2	UTSW	9	26,682,316 (GRCm39)	splice site	probably benign
R3814:Glb1l2	UTSW	9	26,682,330 (GRCm39)	missense	probably benign	0.00
R5079:Glb1l2	UTSW	9	26,682,405 (GRCm39)	missense	probably benign
R5308:Glb1l2	UTSW	9	26,676,055 (GRCm39)	missense	probably damaging	1.00
R5310:Glb1l2	UTSW	9	26,708,162 (GRCm39)	intron	probably benign
R5746:Glb1l2	UTSW	9	26,708,086 (GRCm39)	missense	probably benign	0.01
R5969:Glb1l2	UTSW	9	26,692,038 (GRCm39)	missense	probably damaging	1.00
R5998:Glb1l2	UTSW	9	26,677,299 (GRCm39)	missense	possibly damaging	0.68
R6249:Glb1l2	UTSW	9	26,676,850 (GRCm39)	intron	probably benign
R6284:Glb1l2	UTSW	9	26,678,744 (GRCm39)	missense	probably benign	0.01
R6469:Glb1l2	UTSW	9	26,707,828 (GRCm39)	missense	probably benign	0.03
R7054:Glb1l2	UTSW	9	26,676,423 (GRCm39)	missense	probably null	0.51
R7916:Glb1l2	UTSW	9	26,678,720 (GRCm39)	missense	probably benign	0.05
R7921:Glb1l2	UTSW	9	26,685,264 (GRCm39)	splice site	probably null
R8103:Glb1l2	UTSW	9	26,676,980 (GRCm39)	missense	probably benign
R8354:Glb1l2	UTSW	9	26,717,713 (GRCm39)	start gained	probably benign
R8454:Glb1l2	UTSW	9	26,717,713 (GRCm39)	start gained	probably benign
R8485:Glb1l2	UTSW	9	26,679,036 (GRCm39)	missense	probably benign	0.00
R8834:Glb1l2	UTSW	9	26,689,314 (GRCm39)	critical splice donor site	probably null
X0020:Glb1l2	UTSW	9	26,679,029 (GRCm39)	missense	possibly damaging	0.88

Posted On

2016-08-02