Mutagenetix > Incidental Mutation

Incidental Mutation 'R5310:Glb1l2'

404792

Institutional Source

Beutler Lab

Gene Symbol

Glb1l2

Ensembl Gene

ENSMUSG00000036395

Gene Name

galactosidase, beta 1-like 2

Synonyms

MMRRC Submission

042893-MU

Accession Numbers

Essential gene?

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

Stock #

R5310 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26674340-26717764 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 26708162 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

noncoding transcript
Transcript: ENSMUST00000161635

Predicted Effect

unknown
Transcript: ENSMUST00000162252
AA Change: V4I

SMART Domains

Protein: ENSMUSP00000124415
Gene: ENSMUSG00000036395
AA Change: V4I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.7%

Validation Efficiency

100% (74/74)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 119,931,839 (GRCm39)	I31L	possibly damaging	Het
Abca17	T	C	17: 24,500,204 (GRCm39)	K1329R	probably benign	Het
Acap2	A	G	16: 30,952,427 (GRCm39)	Y197H	probably benign	Het
Adgrv1	A	G	13: 81,624,809 (GRCm39)	V3720A	possibly damaging	Het
Alms1	T	A	6: 85,592,350 (GRCm39)	S870T	possibly damaging	Het
Anapc4	A	G	5: 53,016,501 (GRCm39)	E493G	probably benign	Het
Ap2a1	A	G	7: 44,555,489 (GRCm39)		probably null	Het
Arhgef38	A	G	3: 132,822,227 (GRCm39)	L179P	probably damaging	Het
Bicral	T	C	17: 47,124,909 (GRCm39)	D630G	possibly damaging	Het
Ccdc97	A	T	7: 25,415,201 (GRCm39)	L154Q	probably damaging	Het
Cd40	T	C	2: 164,905,483 (GRCm39)		probably null	Het
Celsr1	T	A	15: 85,810,423 (GRCm39)	N2155I	possibly damaging	Het
Cemip	A	T	7: 83,641,241 (GRCm39)	L261H	probably damaging	Het
Cep57	G	A	9: 13,730,164 (GRCm39)	H98Y	probably damaging	Het
Chrna7	A	T	7: 62,755,805 (GRCm39)	L247Q	probably damaging	Het
Cyp2c40	T	A	19: 39,766,474 (GRCm39)	M374L	probably damaging	Het
Cyp4f13	T	C	17: 33,144,795 (GRCm39)	D372G	probably damaging	Het
Dazl	C	A	17: 50,588,311 (GRCm39)	S288I	probably damaging	Het
Dnah5	T	C	15: 28,311,474 (GRCm39)	F1818L	probably damaging	Het
Echdc1	T	C	10: 29,210,204 (GRCm39)	V143A	possibly damaging	Het
Eif4enif1	T	A	11: 3,192,687 (GRCm39)	H838Q	probably damaging	Het
Erich3	A	T	3: 154,469,217 (GRCm39)	D1223V	probably damaging	Het
Fbxl2	A	G	9: 113,815,576 (GRCm39)	I229T	possibly damaging	Het
Gfm2	G	A	13: 97,299,659 (GRCm39)	A406T	probably damaging	Het
Ggnbp2	A	G	11: 84,760,794 (GRCm39)	M1T	probably null	Het
Gnl2	A	G	4: 124,946,633 (GRCm39)	K618R	probably benign	Het
Greb1	A	T	12: 16,766,760 (GRCm39)	I346K	probably benign	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Gtse1	A	G	15: 85,757,993 (GRCm39)	Q533R	probably benign	Het
Hemgn	A	G	4: 46,403,927 (GRCm39)	S23P	possibly damaging	Het
Htr6	G	T	4: 138,788,977 (GRCm39)	H359Q	probably damaging	Het
Ifit1	T	C	19: 34,626,204 (GRCm39)	F447L	probably benign	Het
Kansl1	T	C	11: 104,315,684 (GRCm39)	Y118C	possibly damaging	Het
Khk	G	A	5: 31,084,373 (GRCm39)	V118M	probably benign	Het
Klra17	T	A	6: 129,845,671 (GRCm39)	K181M	probably damaging	Het
Lbh	T	C	17: 73,228,287 (GRCm39)		probably null	Het
Lmo2	T	C	2: 103,806,445 (GRCm39)	I108T	probably damaging	Het
Maco1	T	C	4: 134,564,330 (GRCm39)		probably benign	Het
Mgat5	T	A	1: 127,315,251 (GRCm39)		probably null	Het
Mink1	T	C	11: 70,498,169 (GRCm39)	V525A	probably benign	Het
Myo10	C	A	15: 25,778,164 (GRCm39)		probably null	Het
Nlrp2	T	C	7: 5,328,007 (GRCm39)	N682S	probably benign	Het
Nr2e3	G	A	9: 59,856,617 (GRCm39)		probably benign	Het
Or5p5	T	C	7: 107,414,171 (GRCm39)	C129R	probably damaging	Het
Or6b2b	T	C	1: 92,418,758 (GRCm39)	T240A	probably damaging	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Pfas	G	A	11: 68,878,847 (GRCm39)	S1319F	probably damaging	Het
Phf3	T	C	1: 30,842,887 (GRCm39)	K2024R	probably damaging	Het
Pld4	G	A	12: 112,735,046 (GRCm39)	C501Y	probably damaging	Het
Psg16	C	T	7: 16,824,560 (GRCm39)	R115W	probably damaging	Het
Rab3gap1	G	A	1: 127,870,110 (GRCm39)		probably null	Het
Rimkla	C	A	4: 119,335,049 (GRCm39)	K111N	probably damaging	Het
Rrm2b	T	C	15: 37,927,571 (GRCm39)	E113G	probably damaging	Het
Rspry1	C	T	8: 95,349,813 (GRCm39)	T67I	probably benign	Het
Skint6	C	A	4: 113,041,965 (GRCm39)	E292*	probably null	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc13a1	A	G	6: 24,134,373 (GRCm39)	M170T	probably benign	Het
Slc15a5	T	C	6: 138,050,034 (GRCm39)	N127S	probably benign	Het
Slc39a10	G	A	1: 46,875,285 (GRCm39)	H6Y	probably damaging	Het
Spata31e2	A	C	1: 26,724,169 (GRCm39)	V337G	probably benign	Het
Sugct	A	T	13: 17,427,145 (GRCm39)	C338*	probably null	Het
Tbk1	A	T	10: 121,391,956 (GRCm39)	M486K	probably benign	Het
Terf1	A	T	1: 15,875,909 (GRCm39)	E3V	probably damaging	Het
Thoc5	T	A	11: 4,860,648 (GRCm39)	Y246N	probably damaging	Het
Tmem167b	G	A	3: 108,469,415 (GRCm39)		probably benign	Het
Tmtc1	T	A	6: 148,256,910 (GRCm39)		probably benign	Het
Zfp322a	A	T	13: 23,541,532 (GRCm39)	M70K	possibly damaging	Het
Zfp979	A	T	4: 147,698,375 (GRCm39)	H111Q	possibly 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
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
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
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'- TGTGGTCTAGAGTTTCCACAGC -3'
(R):5'- AGGTATCTGAATCCCAAGGTGG -3'

Sequencing Primer
(F):5'- CAGCAGTGAGAACCAGCACAG -3'
(R):5'- GGCAGCTGTGACCATGAG -3'

Posted On

2016-07-22