Mutagenetix > Incidental Mutations

Incidental Mutation 'R8454:Glb1l2'

654939

Institutional Source

Beutler Lab

Gene Symbol

Glb1l2

Ensembl Gene

ENSMUSG00000036395

Gene Name

galactosidase, beta 1-like 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R8454 (G1)

Quality Score

161.009

Status

Not validated

Chromosome

Chromosomal Location

26763044-26806468 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

C to A at 26806417 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125022 (fasta)

Gene Model

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	A	7: 118,792,572	F493Y	probably benign	Het
Abcc10	C	A	17: 46,324,177	G300V	possibly damaging	Het
Adgrg7	C	G	16: 56,795,682		probably benign	Het
Agt	G	A	8: 124,564,103	T155M	probably benign	Het
Atp8b3	A	G	10: 80,525,799	V763A	probably benign	Het
Btn1a1	C	A	13: 23,464,250	V138L	probably benign	Het
Cd163	A	T	6: 124,328,965	N1109I	probably benign	Het
Cideb	T	A	14: 55,755,141	Q106L	possibly damaging	Het
Cntn1	A	G	15: 92,232,249	T126A	probably benign	Het
Dusp27	A	T	1: 166,108,133	N165K	probably damaging	Het
Elfn1	T	C	5: 139,971,471	Y77H	probably damaging	Het
Eml3	A	G	19: 8,934,994	H386R	probably damaging	Het
Fbxo21	A	G	5: 117,995,414	D413G	probably damaging	Het
Fkbp8	T	A	8: 70,531,763		probably null	Het
Fzd1	T	C	5: 4,757,336	Q82R	probably benign	Het
Gast	T	C	11: 100,336,568	L29P	probably benign	Het
Gm1110	C	G	9: 26,883,280	Q483H	probably benign	Het
Gm1110	T	A	9: 26,883,281	Q483L	probably benign	Het
Gm5737	T	A	7: 120,831,180	V420E	possibly damaging	Het
Gpc6	T	C	14: 116,925,979	L15P	probably damaging	Het
Hagh	C	A	17: 24,857,562	S161*	probably null	Het
Hrh1	A	G	6: 114,480,853	D365G	probably benign	Het
Ighv1-36	A	T	12: 114,879,940	M100K	probably damaging	Het
Itgb8	A	T	12: 119,170,778	V518D	probably benign	Het
Krt82	T	C	15: 101,541,803	Y486C	probably damaging	Het
Lmbr1l	A	G	15: 98,912,476	S85P	probably damaging	Het
Met	A	G	6: 17,491,769	S177G	probably damaging	Het
Myl9	T	A	2: 156,781,128	I162N	possibly damaging	Het
Npat	T	A	9: 53,566,951	N973K	possibly damaging	Het
Olfr493	A	T	7: 108,346,682	C100S	probably damaging	Het
Pcdhga12	A	T	18: 37,768,137	D674V	possibly damaging	Het
Phtf1	T	A	3: 104,004,449	N702K	probably damaging	Het
Plaa	A	T	4: 94,569,477	I752N	probably damaging	Het
Pnpla2	T	C	7: 141,458,098	C194R	probably damaging	Het
Rnaseh2a	T	C	8: 84,965,147	N133S	probably benign	Het
Rps6ka1	T	A	4: 133,848,553	Q685L	probably benign	Het
Ryr1	C	A	7: 29,015,717	G4661C	unknown	Het
Samd13	T	A	3: 146,646,402	M65L	probably benign	Het
Sec22c	A	G	9: 121,695,655	S21P	probably damaging	Het
Sh3d19	C	A	3: 86,107,022	T431K	probably benign	Het
Sin3b	A	G	8: 72,741,480	M277V	probably benign	Het
Sis	T	C	3: 72,947,501	T468A	possibly damaging	Het
Slitrk3	T	C	3: 73,049,180	N753S	probably benign	Het
Slitrk6	C	A	14: 110,752,046	L76F	probably damaging	Het
Stk3	C	T	15: 34,876,724	A478T	probably damaging	Het
Sugp1	C	A	8: 70,071,597	Y617*	probably null	Het
Tinag	T	C	9: 77,031,695	D167G	probably damaging	Het
Tk2	A	G	8: 104,241,114		probably null	Het
Tmem209	A	T	6: 30,489,309	V514D	probably damaging	Het
Tmprss9	A	G	10: 80,887,486	H260R	probably benign	Het
Tnfrsf14	T	A	4: 154,926,655	Y83F	possibly damaging	Het
Tnfrsf8	A	T	4: 145,287,983	D285E	probably benign	Het
Togaram2	C	G	17: 71,697,878	A310G	probably benign	Het
Trpv3	A	G	11: 73,291,622	Y544C	probably damaging	Het
Ttl	T	A	2: 129,066,184	V13D	probably damaging	Het
Usp40	A	T	1: 87,980,972	D602E	probably benign	Het
Vamp5	A	G	6: 72,370,393		probably benign	Het
Vmn2r65	T	A	7: 84,940,194	H838L	possibly damaging	Het
Wdr63	T	C	3: 146,097,227	K70E	probably damaging	Het
Zfp960	T	A	17: 17,088,199	Y392N	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
IGL02372:Glb1l2	APN	9	26796476	missense	probably damaging	1.00
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
X0020:Glb1l2	UTSW	9	26767733	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- CAGACCAGAACCTGAGGTGTTG -3'
(R):5'- TCAGACAAGTTTGGGCCTGG -3'

Sequencing Primer
(F):5'- TTGGGCTGGGACCAAAGG -3'
(R):5'- TGGGCCTGGGCTGAGATC -3'

Posted On

2020-10-20