Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4362001:Glb1l2'

554629

Institutional Source

Beutler Lab

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 #

PIT4362001 (G1)

Quality Score

215.009

Status

Not validated

Chromosome

Chromosomal Location

26674340-26717764 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26685277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 282 (S282T)

Ref Sequence

ENSEMBL: ENSMUSP00000047128 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040398
AA Change: S282T

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000047128
Gene: ENSMUSG00000036395
AA Change: S282T

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
AA Change: S266T

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000066770
Gene: ENSMUSG00000036395
AA Change: S266T

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
AA Change: S273T

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000124415
Gene: ENSMUSG00000036395
AA Change: S273T

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: ENSMUST00000162702
AA Change: S145T

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000125022
Gene: ENSMUSG00000036395
AA Change: S145T

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

Coding Region Coverage

1x: 93.4%
3x: 91.2%
10x: 87.0%
20x: 78.3%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	C	17: 31,283,398 (GRCm39)	S28P	possibly damaging	Het
Akr1c14	T	C	13: 4,129,100 (GRCm39)	V165A	probably damaging	Het
Aox1	A	T	1: 58,321,839 (GRCm39)	T44S	probably damaging	Het
Arhgap29	T	A	3: 121,796,861 (GRCm39)	N482K	probably benign	Het
Arhgef38	T	A	3: 132,866,591 (GRCm39)	D182V		Het
Atad5	C	T	11: 80,002,393 (GRCm39)	H1062Y	probably benign	Het
Atp6v0b	A	G	4: 117,742,453 (GRCm39)	S147P	possibly damaging	Het
Cblb	T	A	16: 51,959,905 (GRCm39)	Y299*	probably null	Het
Ccdc28b	T	C	4: 129,514,818 (GRCm39)	N97S	probably benign	Het
Cdh23	A	G	10: 60,301,237 (GRCm39)	V479A	probably benign	Het
Chuk	A	G	19: 44,087,022 (GRCm39)		probably null	Het
Cmtr2	G	A	8: 110,948,968 (GRCm39)	G426D	probably damaging	Het
Cog4	G	A	8: 111,593,304 (GRCm39)	D472N	probably damaging	Het
Creb3	T	A	4: 43,565,472 (GRCm39)	L193*	probably null	Het
Cxcr6	A	T	9: 123,639,526 (GRCm39)	I183F	probably benign	Het
Dbf4	A	G	5: 8,453,664 (GRCm39)	F253L	probably benign	Het
Dcaf8	T	C	1: 172,000,364 (GRCm39)	V174A	probably damaging	Het
Ddhd2	T	C	8: 26,225,779 (GRCm39)	Y526C	probably damaging	Het
Dnal4	A	G	15: 79,647,766 (GRCm39)	V33A	probably benign	Het
Egfl7	C	T	2: 26,481,052 (GRCm39)	P188L	probably benign	Het
Ephb3	A	G	16: 21,039,607 (GRCm39)	E707G	probably damaging	Het
Epn3	C	T	11: 94,387,349 (GRCm39)	R7H	probably damaging	Het
Fbp1	T	A	13: 63,015,194 (GRCm39)	I262F	probably damaging	Het
Fgfbp3	G	A	19: 36,896,088 (GRCm39)	R177*	probably null	Het
Gask1b	C	A	3: 79,794,246 (GRCm39)	S238Y	possibly damaging	Het
Gbp5	T	C	3: 142,206,471 (GRCm39)	S52P	probably damaging	Het
Glg1	A	T	8: 111,985,431 (GRCm39)	V133E	possibly damaging	Het
Gm4787	T	G	12: 81,423,949 (GRCm39)	L736F	probably benign	Het
Gm5565	A	T	5: 146,095,109 (GRCm39)	S212R	probably benign	Het
Grin2c	T	C	11: 115,140,459 (GRCm39)	T1220A	probably benign	Het
Grp	T	G	18: 66,019,297 (GRCm39)	S133A	probably benign	Het
Gstp2	C	A	19: 4,090,713 (GRCm39)	D147Y	possibly damaging	Het
Igkv14-130	T	C	6: 67,768,392 (GRCm39)	F84L	probably damaging	Het
Inppl1	T	C	7: 101,475,220 (GRCm39)	R944G	probably benign	Het
Lama2	A	T	10: 27,245,132 (GRCm39)	N216K	probably damaging	Het
Lrp2	T	A	2: 69,367,882 (GRCm39)	D210V	probably damaging	Het
Lrrc2	A	T	9: 110,791,608 (GRCm39)	Q120L	possibly damaging	Het
Lrriq1	A	G	10: 102,907,055 (GRCm39)	I1555T	probably benign	Het
Map2	G	A	1: 66,451,677 (GRCm39)	G189D	probably benign	Het
Mdc1	A	G	17: 36,155,361 (GRCm39)	E12G	possibly damaging	Het
Mdga2	T	C	12: 66,844,542 (GRCm39)	D152G	possibly damaging	Het
Med23	A	G	10: 24,750,469 (GRCm39)	M99V	probably benign	Het
Mutyh	G	A	4: 116,674,267 (GRCm39)	V273M	probably damaging	Het
Neurod2	T	A	11: 98,218,708 (GRCm39)	Y152F	probably damaging	Het
Or5d3	C	T	2: 88,174,357 (GRCm39)	A247T	probably benign	Het
Or5g25	A	C	2: 85,478,068 (GRCm39)	L199R	probably damaging	Het
Or8c20	G	T	9: 38,260,494 (GRCm39)	L32F	probably benign	Het
Pcdh20	G	C	14: 88,704,462 (GRCm39)	P946R	probably damaging	Het
Pde6b	T	C	5: 108,571,451 (GRCm39)		probably null	Het
Pdzrn4	A	T	15: 92,667,762 (GRCm39)	D638V	possibly damaging	Het
Polr1b	A	G	2: 128,951,212 (GRCm39)	D275G	possibly damaging	Het
Rnf157	T	A	11: 116,251,143 (GRCm39)	D127V	probably damaging	Het
Rspo4	T	A	2: 151,709,803 (GRCm39)	C69*	probably null	Het
Scara3	T	C	14: 66,173,851 (GRCm39)	T63A	probably benign	Het
Scn2a	G	A	2: 65,514,182 (GRCm39)	E289K	probably benign	Het
Sh3gl2	A	G	4: 85,295,786 (GRCm39)	T163A	probably benign	Het
Slc2a10	T	A	2: 165,358,213 (GRCm39)	F446Y	probably damaging	Het
Snapc1	C	T	12: 74,029,269 (GRCm39)	R351C	probably damaging	Het
Snx6	A	G	12: 54,814,815 (GRCm39)	Y169H	possibly damaging	Het
Stab2	A	T	10: 86,697,299 (GRCm39)	C1996*	probably null	Het
Steap4	A	G	5: 8,030,337 (GRCm39)	T398A	probably benign	Het
Tep1	A	T	14: 51,103,510 (GRCm39)	L260Q	probably benign	Het
Tspan12	A	T	6: 21,835,463 (GRCm39)	V70D	possibly damaging	Het
Ttn	G	A	2: 76,569,362 (GRCm39)	A27177V	probably damaging	Het
Ube3a	T	C	7: 58,925,870 (GRCm39)	V237A	possibly damaging	Het
Vil1	G	A	1: 74,460,542 (GRCm39)	R233H	probably damaging	Het
Xrcc5	A	G	1: 72,433,088 (GRCm39)	T716A	probably benign	Het
Zbp1	A	G	2: 173,058,783 (GRCm39)	I18T	probably damaging	Het
Zfp292	A	G	4: 34,807,524 (GRCm39)	V1845A	probably benign	Het
Zfp407	A	T	18: 84,579,393 (GRCm39)	N573K	possibly damaging	Het
Zfp64	T	C	2: 168,767,735 (GRCm39)	T626A	probably benign	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
IGL03057:Glb1l2	APN	9	26,717,586 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AGCAGGGTTTCTAAGCTGCTTC -3'
(R):5'- AGTCTTTTGGCATCACCGGAG -3'

Sequencing Primer
(F):5'- CTCTCCCGTCCGTGAAGCAC -3'
(R):5'- AGAATGTCTACACTAGCTGGGTTC -3'

Posted On

2019-06-07