Mutagenetix > Incidental Mutation

Incidental Mutation 'R2920:Glb1l'

255451

Institutional Source

Beutler Lab

Gene Symbol

Glb1l

Ensembl Gene

ENSMUSG00000026200

Gene Name

galactosidase, beta 1-like

Synonyms

4833408P15Rik

MMRRC Submission

040505-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R2920 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75198236-75210813 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75209190 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 31 (E31D)

Ref Sequence

ENSEMBL: ENSMUSP00000140820 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000113623
AA Change: E31D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109253
Gene: ENSMUSG00000026200
AA Change: E31D

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

noncoding transcript
Transcript: ENSMUST00000135484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142052

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

noncoding transcript
Transcript: ENSMUST00000145144

Predicted Effect

probably benign
Transcript: ENSMUST00000155716
AA Change: E31D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136285
Gene: ENSMUSG00000026200
AA Change: E31D

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

probably benign
Transcript: ENSMUST00000185448
AA Change: E31D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140820
Gene: ENSMUSG00000026200
AA Change: E31D

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

unknown
Transcript: ENSMUST00000186173
AA Change: E25D

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156012

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189242

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

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

96% (48/50)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	G	10: 10,390,243	Y1025H	probably damaging	Het
Adgrv1	C	T	13: 81,448,865	A4122T	probably benign	Het
Aloxe3	C	T	11: 69,142,923	T621I	probably damaging	Het
Atp2b3	A	C	X: 73,533,920	T318P	probably benign	Het
Atrx	A	T	X: 105,830,868	V1962D	probably benign	Het
Chl1	C	A	6: 103,695,343	T531K	probably damaging	Het
Clca3b	T	A	3: 144,837,853	D405V	probably benign	Het
Clca3b	C	T	3: 144,846,931	D115N	probably benign	Het
Comtd1	A	G	14: 21,847,618	L149P	possibly damaging	Het
Cops7a	A	G	6: 124,962,362	V108A	probably benign	Het
Crebbp	A	G	16: 4,119,082	V343A	probably damaging	Het
Edrf1	T	A	7: 133,667,572	D1109E	probably benign	Het
Elmo3	A	G	8: 105,308,059	E359G	possibly damaging	Het
Ep400	C	A	5: 110,755,914	G273V	probably damaging	Het
Fgfr3	A	G	5: 33,733,940	N516S	probably damaging	Het
Gm10093	A	G	17: 78,492,846	D422G	probably damaging	Het
Il12rb2	C	T	6: 67,360,568	V110I	probably damaging	Het
Ints3	T	C	3: 90,393,162	E884G	probably benign	Het
Lin7b	A	G	7: 45,368,397	V170A	possibly damaging	Het
Lrch2	A	T	X: 147,473,030	V750E	probably damaging	Het
Mepe	C	T	5: 104,338,247	R418C	probably damaging	Het
Mettl25	A	T	10: 105,765,177		probably null	Het
Mphosph9	G	A	5: 124,261,006	T982I	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myo10	G	T	15: 25,801,140	V1472L	probably damaging	Het
Myo9b	A	G	8: 71,325,857	K445R	probably damaging	Het
Ntng2	T	C	2: 29,204,211	M383V	probably benign	Het
Olfr1353	A	C	10: 78,970,012	D121A	probably damaging	Het
Olfr30	T	C	11: 58,455,577	Y124C	probably damaging	Het
Olfr702	C	T	7: 106,824,364	R54Q	probably benign	Het
Pak6	A	T	2: 118,694,007		probably benign	Het
Pcdh8	G	T	14: 79,768,714	P803Q	possibly damaging	Het
Pfkfb3	C	T	2: 11,484,327	V286I	probably benign	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Rint1	A	G	5: 23,805,402	E203G	probably benign	Het
Sdf2	G	C	11: 78,254,854	V126L	probably damaging	Het
Slc13a5	T	C	11: 72,247,791	E442G	possibly damaging	Het
Slc14a2	G	T	18: 78,158,297	S669*	probably null	Het
Slc38a7	A	G	8: 95,845,943	I157T	possibly damaging	Het
Slc4a5	T	C	6: 83,264,387	L215P	probably damaging	Het
Tbc1d9	T	C	8: 83,210,469	V60A	probably benign	Het
Tcerg1l	T	C	7: 138,248,379	R422G	probably damaging	Het
Tmem107	T	C	11: 69,071,421	L68P	probably damaging	Het
Ugt2b5	A	G	5: 87,125,407	F467L	possibly damaging	Het
Vmn1r19	A	T	6: 57,404,924	N154I	probably benign	Het
Vmn2r69	T	A	7: 85,411,765	I204L	probably benign	Het
Zbtb1	T	A	12: 76,385,845	S202T	possibly damaging	Het

Other mutations in Glb1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01062:Glb1l	APN	1	75201238	missense	probably damaging	0.99
IGL01477:Glb1l	APN	1	75208706	missense	probably damaging	1.00
R0408:Glb1l	UTSW	1	75208835	missense	probably damaging	1.00
R0620:Glb1l	UTSW	1	75199720	missense	probably damaging	1.00
R1639:Glb1l	UTSW	1	75199601	missense	probably benign	0.16
R1842:Glb1l	UTSW	1	75200460	missense	probably damaging	0.96
R2508:Glb1l	UTSW	1	75201829	missense	probably damaging	0.99
R3439:Glb1l	UTSW	1	75202620	missense	probably damaging	1.00
R4096:Glb1l	UTSW	1	75209440	start codon destroyed	probably benign	0.01
R4517:Glb1l	UTSW	1	75208703	missense	probably damaging	1.00
R4829:Glb1l	UTSW	1	75200350	missense	probably damaging	0.96
R4851:Glb1l	UTSW	1	75208884	unclassified	probably benign
R4859:Glb1l	UTSW	1	75200319	splice site	probably benign
R4951:Glb1l	UTSW	1	75208375	missense	probably damaging	1.00
R6163:Glb1l	UTSW	1	75201407	missense	probably benign
R6519:Glb1l	UTSW	1	75201056	missense	probably benign	0.41
R6693:Glb1l	UTSW	1	75209101	missense	probably damaging	1.00
R6713:Glb1l	UTSW	1	75202417	missense	probably benign	0.02
R6833:Glb1l	UTSW	1	75201753	missense	possibly damaging	0.93
R6834:Glb1l	UTSW	1	75201753	missense	possibly damaging	0.93
R7068:Glb1l	UTSW	1	75202737	missense	probably damaging	1.00
R7453:Glb1l	UTSW	1	75202706	missense	probably damaging	1.00
R7694:Glb1l	UTSW	1	75201792	missense	probably damaging	1.00
R8784:Glb1l	UTSW	1	75200331	missense	probably damaging	1.00
R9408:Glb1l	UTSW	1	75201039	missense	probably damaging	1.00
R9538:Glb1l	UTSW	1	75201452	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTCAGTTTTCCTGGGGAAC -3'
(R):5'- CTGTCCCAGGTAAACCCAAAGG -3'

Sequencing Primer
(F):5'- GAACCCCATTCTAAGGAAGAGG -3'
(R):5'- AAAGGGTCGGACTGTCTGC -3'

Posted On

2014-12-29