Mutagenetix > Incidental Mutation

Incidental Mutation 'R4517:Glb1l'

332939

Institutional Source

Beutler Lab

Gene Symbol

Glb1l

Ensembl Gene

ENSMUSG00000026200

Gene Name

galactosidase, beta 1-like

Synonyms

4833408P15Rik

MMRRC Submission

041761-MU

Accession Numbers

Essential gene?

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

Stock #

R4517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75174880-75187457 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75185347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 121 (C121Y)

Ref Sequence

ENSEMBL: ENSMUSP00000140820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027401] [ENSMUST00000113623] [ENSMUST00000123825] [ENSMUST00000185448] [ENSMUST00000155716] [ENSMUST00000188460] [ENSMUST00000144355] [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: C121Y

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

SMART Domains

Protein: ENSMUSP00000109253
Gene: ENSMUSG00000026200
AA Change: C121Y

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: C121Y

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

SMART Domains

Protein: ENSMUSP00000140820
Gene: ENSMUSG00000026200
AA Change: C121Y

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: C121Y

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

SMART Domains

Protein: ENSMUSP00000136285
Gene: ENSMUSG00000026200
AA Change: C121Y

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: C115Y

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142052

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: 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: 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

Meta Mutation Damage Score

0.9623

Coding Region Coverage

1x: 99.4%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

95% (39/41)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank	A	G	15: 27,562,835 (GRCm39)	H181R	possibly damaging	Het
B4galnt4	A	G	7: 140,647,635 (GRCm39)	K408E	probably damaging	Het
Cd209a	T	A	8: 3,795,525 (GRCm39)	D123V	probably damaging	Het
Cyp4f37	A	G	17: 32,850,566 (GRCm39)	I340V	probably benign	Het
Echs1	A	G	7: 139,692,409 (GRCm39)	S113P	possibly damaging	Het
Fap	T	C	2: 62,361,059 (GRCm39)	I391V	probably benign	Het
Glod4	T	A	11: 76,134,397 (GRCm39)	D25V	probably damaging	Het
Gpc5	T	A	14: 115,789,651 (GRCm39)	N508K	possibly damaging	Het
H2-M10.3	C	T	17: 36,678,722 (GRCm39)		probably null	Het
Ibsp	C	A	5: 104,453,863 (GRCm39)	S67*	probably null	Het
Ifit1bl2	C	T	19: 34,607,164 (GRCm39)		probably benign	Het
Iqgap2	A	G	13: 95,800,569 (GRCm39)		probably null	Het
Kcnma1	A	G	14: 23,387,097 (GRCm39)	S982P	probably damaging	Het
Kif5b	T	C	18: 6,213,272 (GRCm39)	S707G	probably benign	Het
Lrrk2	A	G	15: 91,589,323 (GRCm39)	I437V	probably benign	Het
Mapkbp1	T	C	2: 119,855,545 (GRCm39)		probably benign	Het
Mcu	T	C	10: 59,303,456 (GRCm39)	Y127C	probably damaging	Het
Mlst8	T	C	17: 24,695,031 (GRCm39)	Y284C	probably damaging	Het
Nr2f2	T	G	7: 70,007,870 (GRCm39)	N204T	probably benign	Het
Or13a26	A	G	7: 140,285,004 (GRCm39)	Y280C	probably damaging	Het
Or7a42	T	A	10: 78,791,877 (GRCm39)	Y279*	probably null	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Pcf11	T	C	7: 92,295,696 (GRCm39)	Y1451C	probably damaging	Het
Plekhn1	T	C	4: 156,309,988 (GRCm39)	S109G	probably damaging	Het
Rttn	T	C	18: 89,047,097 (GRCm39)	S920P	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Tas2r135	A	T	6: 42,383,013 (GRCm39)	H184L	probably benign	Het
Tmem38a	C	T	8: 73,326,005 (GRCm39)	P20S	possibly damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vmn2r102	A	G	17: 19,901,475 (GRCm39)	Y534C	probably damaging	Het
Wdr62	A	G	7: 29,969,683 (GRCm39)	V259A	probably damaging	Het
Whrn	A	G	4: 63,379,517 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TGAGCTACAGACAGGTTTTATCTGC -3'
(R):5'- GAAAGAATGGCTCAGAACCTCTTTC -3'

Sequencing Primer
(F):5'- CAGACAGGTTTTATCTGCTGTAAAG -3'
(R):5'- CAAGTTCTGAGTCTCCTAGGGAAC -3'

Posted On

2015-08-18