Mutagenetix > Incidental Mutation

Incidental Mutation 'R6693:Glb1l'

528156

Institutional Source

Beutler Lab

Gene Symbol

Glb1l

Ensembl Gene

ENSMUSG00000026200

Gene Name

galactosidase, beta 1-like

Synonyms

4833408P15Rik

MMRRC Submission

044811-MU

Accession Numbers

Essential gene?

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

Stock #

R6693 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75174880-75187457 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75185745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 61 (D61G)

Ref Sequence

ENSEMBL: ENSMUSP00000140820 (fasta)

Gene Model

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

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: D61G

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

SMART Domains

Protein: ENSMUSP00000109253
Gene: ENSMUSG00000026200
AA Change: D61G

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: D61G

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

SMART Domains

Protein: ENSMUSP00000140820
Gene: ENSMUSG00000026200
AA Change: D61G

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: D61G

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

SMART Domains

Protein: ENSMUSP00000136285
Gene: ENSMUSG00000026200
AA Change: D61G

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: D55G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142052

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145144

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: ENSMUST00000188460

SMART Domains

Protein: ENSMUSP00000139998
Gene: ENSMUSG00000026201

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156012

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186492

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

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,774,915 (GRCm39)	V1368A	probably benign	Het
Aak1	C	T	6: 86,942,497 (GRCm39)	S680L	unknown	Het
Adam25	A	T	8: 41,207,568 (GRCm39)	N278I	probably damaging	Het
Adamtsl1	C	A	4: 86,261,123 (GRCm39)	H1111Q	probably benign	Het
Adgrg7	T	A	16: 56,590,587 (GRCm39)	N195Y	probably damaging	Het
Arhgap23	A	G	11: 97,357,343 (GRCm39)	N436S	probably damaging	Het
Cfap65	T	C	1: 74,956,445 (GRCm39)	I1045V	probably benign	Het
Chrm3	T	C	13: 9,927,458 (GRCm39)	N526S	probably benign	Het
Cpeb2	A	T	5: 43,443,255 (GRCm39)	D982V	probably damaging	Het
Fbxw27	T	C	9: 109,617,112 (GRCm39)	I130V	probably benign	Het
Herc1	G	A	9: 66,386,258 (GRCm39)	C3737Y	probably damaging	Het
Kcnt2	A	T	1: 140,278,965 (GRCm39)	M39L	probably benign	Het
Kif17	C	A	4: 138,013,791 (GRCm39)	Q236K	probably benign	Het
Klhl25	T	C	7: 75,516,561 (GRCm39)	V184A	possibly damaging	Het
Lmf1	A	T	17: 25,864,252 (GRCm39)	M287L	probably benign	Het
Macf1	T	C	4: 123,367,601 (GRCm39)	T822A	possibly damaging	Het
Mmp13	A	T	9: 7,280,245 (GRCm39)	T392S	probably benign	Het
Myo6	T	A	9: 80,153,013 (GRCm39)	N215K	probably damaging	Het
Nedd1	T	C	10: 92,534,199 (GRCm39)	K317R	possibly damaging	Het
Or8g17	C	T	9: 38,930,097 (GRCm39)	A247T	probably damaging	Het
Or9m1	A	G	2: 87,733,652 (GRCm39)	Y123H	probably damaging	Het
Pax9	T	A	12: 56,756,516 (GRCm39)	S285T	probably benign	Het
Pcdhb15	A	T	18: 37,607,394 (GRCm39)	T209S	probably benign	Het
Pdpk1	A	T	17: 24,330,100 (GRCm39)		probably null	Het
Rbak	T	C	5: 143,159,866 (GRCm39)	K396E	probably damaging	Het
Rps6ka5	A	G	12: 100,540,088 (GRCm39)	V545A	probably benign	Het
Scg2	G	T	1: 79,413,737 (GRCm39)	Q329K	probably benign	Het
Shroom3	G	A	5: 93,088,617 (GRCm39)	A456T	possibly damaging	Het
Slc12a7	G	T	13: 73,945,656 (GRCm39)	A489S	probably benign	Het
Slc16a4	T	C	3: 107,210,380 (GRCm39)	I350T	probably damaging	Het
Slc25a45	T	C	19: 5,930,162 (GRCm39)	V44A	possibly damaging	Het
Sucla2	T	A	14: 73,806,107 (GRCm39)	L102*	probably null	Het
Tgif1	T	A	17: 71,157,885 (GRCm39)		probably benign	Het
Tmem8b	A	G	4: 43,669,837 (GRCm39)	E111G	probably benign	Het
Zfp971	G	T	2: 177,675,224 (GRCm39)	K274N	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
IGL01477:Glb1l	APN	1	75,185,350 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CCTAGGAGACTCAGAACTTGC -3'
(R):5'- ACACTGATCCTTACTCCGGAC -3'

Sequencing Primer
(F):5'- CTAGAAAGAGGTTCTGAGCCATTC -3'
(R):5'- TACTCCGGACCTCTGCTGAG -3'

Posted On

2018-07-24