Mutagenetix > Incidental Mutation

Incidental Mutation 'R6834:Glb1l'

534476

Institutional Source

Beutler Lab

Gene Symbol

Glb1l

Ensembl Gene

ENSMUSG00000026200

Gene Name

galactosidase, beta 1-like

Synonyms

4833408P15Rik

MMRRC Submission

044943-MU

Accession Numbers

Essential gene?

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

Stock #

R6834 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75174880-75187457 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75178397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 347 (V347A)

Ref Sequence

ENSEMBL: ENSMUSP00000136285 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113623] [ENSMUST00000145459] [ENSMUST00000152233] [ENSMUST00000155716] [ENSMUST00000185448]

AlphaFold

Q8VC60

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113623
AA Change: V347A

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109253
Gene: ENSMUSG00000026200
AA Change: V347A

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: ENSMUST00000145459

SMART Domains

Protein: ENSMUSP00000135971
Gene: ENSMUSG00000026199

Domain	Start	End	E-Value	Type
low complexity region	19	45	N/A	INTRINSIC
Blast:ZnF_C2H2	96	120	1e-9	BLAST
low complexity region	143	171	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152233

SMART Domains

Protein: ENSMUSP00000136163
Gene: ENSMUSG00000026199

Domain	Start	End	E-Value	Type
low complexity region	19	45	N/A	INTRINSIC
Blast:ZnF_C2H2	96	120	6e-11	BLAST
low complexity region	143	171	N/A	INTRINSIC
low complexity region	394	407	N/A	INTRINSIC
low complexity region	425	451	N/A	INTRINSIC
low complexity region	459	469	N/A	INTRINSIC
Blast:ANK	515	545	2e-9	BLAST
ANK	556	585	6.81e-3	SMART
coiled coil region	628	681	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155716
AA Change: V347A

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000136285
Gene: ENSMUSG00000026200
AA Change: V347A

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

SMART Domains

Protein: ENSMUSP00000140820
Gene: ENSMUSG00000026200

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 benign
Transcript: ENSMUST00000189663

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,225,110 (GRCm39)	W530R	possibly damaging	Het
Aco1	A	G	4: 40,164,747 (GRCm39)	K79R	probably benign	Het
Adam15	C	T	3: 89,247,390 (GRCm39)	G426R	probably damaging	Het
Angptl1	A	T	1: 156,672,263 (GRCm39)	I30L	probably benign	Het
Ankrd35	A	G	3: 96,590,599 (GRCm39)	E295G	possibly damaging	Het
Ap5m1	T	A	14: 49,311,194 (GRCm39)	V88E	probably damaging	Het
Astn1	A	T	1: 158,491,692 (GRCm39)	Q47L	probably benign	Het
Atf6b	T	C	17: 34,868,131 (GRCm39)	S135P	probably damaging	Het
AU018091	T	A	7: 3,207,795 (GRCm39)	I589F	probably benign	Het
Cdin1	T	C	2: 115,505,265 (GRCm39)	S179P	probably benign	Het
Cenpf	T	C	1: 189,391,643 (GRCm39)	K730E	probably damaging	Het
Chrna6	C	T	8: 27,898,338 (GRCm39)		probably null	Het
Dmxl1	A	T	18: 50,088,890 (GRCm39)	I2790F	probably damaging	Het
Ell	A	G	8: 71,031,784 (GRCm39)	D116G	probably damaging	Het
Eml5	A	T	12: 98,853,283 (GRCm39)	H105Q	probably damaging	Het
Epb41l2	T	A	10: 25,369,502 (GRCm39)	V23D	possibly damaging	Het
Gatad2b	T	A	3: 90,255,950 (GRCm39)	S139T	probably benign	Het
Gm4846	A	T	1: 166,322,147 (GRCm39)	I140N	possibly damaging	Het
Gng11	A	G	6: 4,008,068 (GRCm39)	I44V	probably benign	Het
Hsd17b8	T	C	17: 34,246,191 (GRCm39)	S161G	probably damaging	Het
Hsp90ab1	T	C	17: 45,881,393 (GRCm39)	I250V	probably benign	Het
Igkv4-79	A	G	6: 69,020,256 (GRCm39)	S20P	probably damaging	Het
Il11ra1	A	G	4: 41,765,454 (GRCm39)	H183R	probably benign	Het
Kcnip3	A	T	2: 127,300,278 (GRCm39)	F252I	probably damaging	Het
Klk12	T	C	7: 43,422,772 (GRCm39)	V233A	possibly damaging	Het
Klk1b11	T	C	7: 43,428,336 (GRCm39)	I242T	probably damaging	Het
Lama3	G	A	18: 12,624,605 (GRCm39)	C1450Y	probably damaging	Het
Lmod2	A	T	6: 24,597,782 (GRCm39)		probably benign	Het
Loxhd1	T	A	18: 77,529,222 (GRCm39)	V1089E	probably damaging	Het
Lrba	C	T	3: 86,257,593 (GRCm39)	P1286S	probably benign	Het
Lrrc41	T	C	4: 115,953,726 (GRCm39)	V804A	possibly damaging	Het
Lrrc8a	T	A	2: 30,145,659 (GRCm39)	S158T	possibly damaging	Het
Mcm3	A	T	1: 20,880,320 (GRCm39)	M504K	possibly damaging	Het
Med24	A	T	11: 98,595,850 (GRCm39)		probably null	Het
Mrgprx1	T	C	7: 47,671,385 (GRCm39)	S121G	probably damaging	Het
Mvb12a	G	A	8: 71,997,896 (GRCm39)	M103I	probably benign	Het
Or4k15c	A	G	14: 50,321,685 (GRCm39)	V151A	probably damaging	Het
Or4k2	T	C	14: 50,423,940 (GRCm39)	I245V	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pacsin3	T	A	2: 91,093,180 (GRCm39)	M224K	probably damaging	Het
Pam	T	A	1: 97,765,717 (GRCm39)	I771F	probably damaging	Het
Pamr1	C	T	2: 102,445,276 (GRCm39)	R270C	probably damaging	Het
Pcdhgb8	G	T	18: 37,895,142 (GRCm39)	A71S	probably benign	Het
Poc1b	C	T	10: 99,028,666 (GRCm39)	A336V	probably benign	Het
Prss39	G	T	1: 34,537,697 (GRCm39)	V54F	possibly damaging	Het
Ptar1	A	G	19: 23,695,288 (GRCm39)	T252A	probably benign	Het
Ptprz1	A	G	6: 22,999,632 (GRCm39)	D574G	probably benign	Het
Rnf40	G	A	7: 127,195,578 (GRCm39)	D635N	probably benign	Het
Scn1a	T	A	2: 66,158,086 (GRCm39)	Q429L	probably damaging	Het
Sf1	G	T	19: 6,424,127 (GRCm39)	G386C	probably damaging	Het
Shank2	A	T	7: 143,963,631 (GRCm39)	Y623F	probably damaging	Het
Slc9a5	G	T	8: 106,091,316 (GRCm39)	A699S	probably benign	Het
Sox9	A	T	11: 112,674,826 (GRCm39)	Q208L	probably benign	Het
Synpo2l	A	T	14: 20,710,702 (GRCm39)	D865E	probably damaging	Het
Szt2	A	G	4: 118,245,522 (GRCm39)	S1097P	probably benign	Het
Tmc1	C	A	19: 20,772,974 (GRCm39)	E676*	probably null	Het
Ubr3	T	C	2: 69,830,825 (GRCm39)	I158T	possibly damaging	Het
Ush2a	T	C	1: 188,088,989 (GRCm39)	Y315H	probably damaging	Het
Vmn1r85	T	C	7: 12,818,571 (GRCm39)	D191G	probably damaging	Het
Vmn2r-ps158	G	C	7: 42,673,004 (GRCm39)	A143P	probably damaging	Het
Zfp358	A	G	8: 3,545,613 (GRCm39)	D92G	probably benign	Het
Zfp735	G	A	11: 73,601,434 (GRCm39)	G126D	probably damaging	Het
Zpld2	A	C	4: 133,920,476 (GRCm39)	V563G	possibly damaging	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
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
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'- AGCCATGAAGACCCATAATTCTTC -3'
(R):5'- GTGTATGATGACCACTTCCCC -3'

Sequencing Primer
(F):5'- TCACATGTGGAATTCCCCAG -3'
(R):5'- GACAAGATTTTCTGCACAAGGCTCTG -3'

Posted On

2018-09-12