Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01477:Glb1l'

88483

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Glb1l

Ensembl Gene

ENSMUSG00000026200

Gene Name

galactosidase, beta 1-like

Synonyms

4833408P15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

IGL01477

Quality Score

Status

Chromosome

Chromosomal Location

75174880-75187457 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75185350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 120 (I120N)

Ref Sequence

ENSEMBL: ENSMUSP00000140820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027401] [ENSMUST00000113623] [ENSMUST00000123825] [ENSMUST00000185448] [ENSMUST00000155716] [ENSMUST00000188460] [ENSMUST00000144355] [ENSMUST00000191108] [ENSMUST00000189698]

AlphaFold

Q8VC60

Predicted Effect

probably benign
Transcript: ENSMUST00000027401

SMART Domains

Protein: ENSMUSP00000027401
Gene: ENSMUSG00000026201

Domain	Start	End	E-Value	Type
Pfam:Pkinase	20	290	3.3e-47	PFAM
Pfam:Pkinase_Tyr	21	290	3e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113623
AA Change: I120N

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

SMART Domains

Protein: ENSMUSP00000109253
Gene: ENSMUSG00000026200
AA Change: I120N

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Pfam:Glyco_hydro_35	34	351	4.1e-123	PFAM
Pfam:Glyco_hydro_42	48	209	6.6e-12	PFAM
low complexity region	355	371	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123825

SMART Domains

Protein: ENSMUSP00000122688
Gene: ENSMUSG00000026201

Domain	Start	End	E-Value	Type
Pfam:Pkinase	20	122	9.1e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126328

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132507

Predicted Effect

probably damaging
Transcript: ENSMUST00000185448
AA Change: I120N

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

SMART Domains

Protein: ENSMUSP00000140820
Gene: ENSMUSG00000026200
AA Change: I120N

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Glyco_hydro_35	34	188	1.6e-71	PFAM
Pfam:Glyco_hydro_42	48	188	6.4e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000155716
AA Change: I120N

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

SMART Domains

Protein: ENSMUSP00000136285
Gene: ENSMUSG00000026200
AA Change: I120N

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Pfam:Glyco_hydro_35	34	351	4.2e-125	PFAM
Pfam:Glyco_hydro_42	48	209	6.6e-12	PFAM
low complexity region	355	371	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000186173
AA Change: I114N

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142052

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156012

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135484

Predicted Effect

probably benign
Transcript: ENSMUST00000188460

SMART Domains

Protein: ENSMUSP00000139998
Gene: ENSMUSG00000026201

Domain	Start	End	E-Value	Type
S_TKc	20	172	1e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144355

SMART Domains

Protein: ENSMUSP00000115964
Gene: ENSMUSG00000026201

Domain	Start	End	E-Value	Type
Pfam:Pkinase	20	122	9.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191108

SMART Domains

Protein: ENSMUSP00000139846
Gene: ENSMUSG00000026201

Domain	Start	End	E-Value	Type
Pfam:Pkinase	20	186	8.6e-29	PFAM
Pfam:Pkinase_Tyr	21	184	2.1e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189698

SMART Domains

Protein: ENSMUSP00000140329
Gene: ENSMUSG00000026201

Domain	Start	End	E-Value	Type
S_TKc	20	203	1.1e-5	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armh3	A	G	19: 45,967,043 (GRCm39)	F33S	probably damaging	Het
Aven	T	C	2: 112,460,277 (GRCm39)	S132P	probably benign	Het
Cadps2	G	A	6: 23,263,672 (GRCm39)	T1233M	probably damaging	Het
Cdh16	T	C	8: 105,345,140 (GRCm39)	E383G	probably damaging	Het
Cxxc1	A	G	18: 74,352,985 (GRCm39)	K432E	possibly damaging	Het
Elapor2	A	T	5: 9,487,756 (GRCm39)	K547N	probably damaging	Het
Eprs1	G	T	1: 185,143,572 (GRCm39)		probably benign	Het
Etv4	T	C	11: 101,667,954 (GRCm39)	D74G	possibly damaging	Het
Grpel1	G	A	5: 36,627,986 (GRCm39)	R89Q	probably damaging	Het
Ifi44	C	T	3: 151,451,635 (GRCm39)		probably benign	Het
Ikzf3	T	C	11: 98,379,683 (GRCm39)	H195R	probably damaging	Het
Mug2	A	G	6: 122,058,643 (GRCm39)		probably benign	Het
Or1j15	T	A	2: 36,458,754 (GRCm39)	L48H	probably damaging	Het
Or8c17	T	A	9: 38,180,615 (GRCm39)	S269T	possibly damaging	Het
Pcnx1	A	T	12: 82,020,015 (GRCm39)	K1346I	probably damaging	Het
Pcnx2	C	T	8: 126,512,044 (GRCm39)	V1421I	probably damaging	Het
Pnpla8	A	G	12: 44,330,441 (GRCm39)	D331G	probably damaging	Het
Ppp1r3a	A	T	6: 14,718,345 (GRCm39)	N856K	probably damaging	Het
Ptk7	T	C	17: 46,887,806 (GRCm39)	D542G	possibly damaging	Het
Slc4a2	A	G	5: 24,635,154 (GRCm39)		probably benign	Het
Smarce1	C	T	11: 99,101,013 (GRCm39)	G373E	possibly damaging	Het
Speg	A	G	1: 75,368,541 (GRCm39)	N697S	probably damaging	Het
Supt5	T	C	7: 28,016,689 (GRCm39)	H731R	possibly damaging	Het
Tmod2	T	C	9: 75,502,283 (GRCm39)	H68R	probably benign	Het
Vmn2r68	A	C	7: 84,882,691 (GRCm39)	C354G	probably damaging	Het
Zfp277	A	T	12: 40,370,675 (GRCm39)	Y425N	probably benign	Het

Other mutations in Glb1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01062:Glb1l	APN	1	75,177,882 (GRCm39)	missense	probably damaging	0.99
R0408:Glb1l	UTSW	1	75,185,479 (GRCm39)	missense	probably damaging	1.00
R0620:Glb1l	UTSW	1	75,176,364 (GRCm39)	missense	probably damaging	1.00
R1639:Glb1l	UTSW	1	75,176,245 (GRCm39)	missense	probably benign	0.16
R1842:Glb1l	UTSW	1	75,177,104 (GRCm39)	missense	probably damaging	0.96
R2508:Glb1l	UTSW	1	75,178,473 (GRCm39)	missense	probably damaging	0.99
R2920:Glb1l	UTSW	1	75,185,834 (GRCm39)	missense	probably benign
R3439:Glb1l	UTSW	1	75,179,264 (GRCm39)	missense	probably damaging	1.00
R4096:Glb1l	UTSW	1	75,186,084 (GRCm39)	start codon destroyed	probably benign	0.01
R4517:Glb1l	UTSW	1	75,185,347 (GRCm39)	missense	probably damaging	1.00
R4829:Glb1l	UTSW	1	75,176,994 (GRCm39)	missense	probably damaging	0.96
R4851:Glb1l	UTSW	1	75,185,528 (GRCm39)	unclassified	probably benign
R4859:Glb1l	UTSW	1	75,176,963 (GRCm39)	splice site	probably benign
R4951:Glb1l	UTSW	1	75,185,019 (GRCm39)	missense	probably damaging	1.00
R6163:Glb1l	UTSW	1	75,178,051 (GRCm39)	missense	probably benign
R6519:Glb1l	UTSW	1	75,177,700 (GRCm39)	missense	probably benign	0.41
R6693:Glb1l	UTSW	1	75,185,745 (GRCm39)	missense	probably damaging	1.00
R6713:Glb1l	UTSW	1	75,179,061 (GRCm39)	missense	probably benign	0.02
R6833:Glb1l	UTSW	1	75,178,397 (GRCm39)	missense	possibly damaging	0.93
R6834:Glb1l	UTSW	1	75,178,397 (GRCm39)	missense	possibly damaging	0.93
R7068:Glb1l	UTSW	1	75,179,381 (GRCm39)	missense	probably damaging	1.00
R7453:Glb1l	UTSW	1	75,179,350 (GRCm39)	missense	probably damaging	1.00
R7694:Glb1l	UTSW	1	75,178,436 (GRCm39)	missense	probably damaging	1.00
R8784:Glb1l	UTSW	1	75,176,975 (GRCm39)	missense	probably damaging	1.00
R9408:Glb1l	UTSW	1	75,177,683 (GRCm39)	missense	probably damaging	1.00
R9538:Glb1l	UTSW	1	75,178,096 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-18