Mutagenetix > Incidental Mutations

Incidental Mutation 'R4797:Glb1l3'

426239

Institutional Source

Beutler Lab

Gene Symbol

Glb1l3

Ensembl Gene

ENSMUSG00000031966

Gene Name

galactosidase, beta 1 like 3

Synonyms

MMRRC Submission

042421-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R4797 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26817953-26860890 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26828446 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 356 (D356G)

Ref Sequence

ENSEMBL: ENSMUSP00000147979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034448] [ENSMUST00000210274]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034448
AA Change: D280G

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034448
Gene: ENSMUSG00000031966
AA Change: D280G

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_35	1	304	1.5e-110	PFAM
Pfam:Glyco_hydro_42	7	160	6.2e-11	PFAM
low complexity region	309	318	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209592

Predicted Effect

probably damaging
Transcript: ENSMUST00000210274
AA Change: D356G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211353

Meta Mutation Damage Score

0.8877

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

96% (69/72)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,118,119	T1195A	probably benign	Het
Apobr	G	A	7: 126,587,584	E756K	probably benign	Het
Arpc3	A	G	5: 122,404,152	E77G	possibly damaging	Het
Atp2b2	A	T	6: 113,789,886	M464K	possibly damaging	Het
Atxn7l2	A	G	3: 108,204,550	S379P	probably damaging	Het
Ccdc91	A	T	6: 147,592,143	E344D	unknown	Het
Cdc42bpg	G	A	19: 6,320,447	R1190Q	probably damaging	Het
Cdh17	C	A	4: 11,810,390	Q694K	probably benign	Het
Chordc1	G	T	9: 18,292,376		probably benign	Het
Copg1	A	G	6: 87,903,468		probably benign	Het
Dcbld1	T	C	10: 52,284,127	V37A	probably damaging	Het
Ddb2	A	G	2: 91,236,818		probably benign	Het
Dok5	A	T	2: 170,830,122	R115*	probably null	Het
Drc7	T	C	8: 95,074,297	I649T	probably damaging	Het
E130309D02Rik	A	G	5: 143,311,749	F181S	probably benign	Het
Efr3a	A	G	15: 65,857,588	T713A	probably damaging	Het
Epg5	G	A	18: 78,030,399	D2494N	probably benign	Het
Eps15	G	A	4: 109,366,530		probably benign	Het
Gm10639	A	T	9: 78,304,397	Y147F	probably benign	Het
Gm1818	A	T	12: 48,555,610		noncoding transcript	Het
Gm4450	T	A	3: 98,456,431	R62*	probably null	Het
Hcrtr2	C	A	9: 76,254,534	M191I	probably damaging	Het
Heatr1	G	A	13: 12,412,048	E685K	probably benign	Het
Hsd3b2	A	T	3: 98,711,663	L322Q	probably damaging	Het
Htra4	T	C	8: 25,033,659	T297A	probably damaging	Het
Il22	C	A	10: 118,205,153	R55S	probably damaging	Het
Ints1	G	A	5: 139,771,876	T324M	possibly damaging	Het
Ints7	T	C	1: 191,596,933	V268A	probably damaging	Het
Kctd20	G	A	17: 28,966,792	V370I	probably damaging	Het
Lama1	T	A	17: 67,716,775	M55K	probably benign	Het
Larp1	C	A	11: 58,047,980	S494*	probably null	Het
Ldb3	A	T	14: 34,555,513	H262Q	possibly damaging	Het
Lepr	C	A	4: 101,780,047	T711K	possibly damaging	Het
Mon2	T	C	10: 123,016,517	I984V	probably benign	Het
Naip2	T	A	13: 100,161,735	S598C	probably damaging	Het
Oasl1	A	G	5: 114,928,158	M112V	probably benign	Het
Olfr371	G	T	8: 85,230,938	A148S	probably benign	Het
Olfr715b	A	T	7: 107,106,027	M278K	probably benign	Het
Olfr807	A	T	10: 129,754,521	S310T	probably benign	Het
P2ry1	T	A	3: 61,003,460	S7T	probably benign	Het
Pidd1	G	T	7: 141,442,986	R98S	possibly damaging	Het
Pkd1l1	A	C	11: 8,961,340	F312L	unknown	Het
Pla2r1	A	T	2: 60,504,180	M416K	possibly damaging	Het
Pold1	T	C	7: 44,541,901	E194G	possibly damaging	Het
Poldip2	T	A	11: 78,513,987	Y77N	probably damaging	Het
Ppp2r3a	G	T	9: 101,211,980	N381K	probably benign	Het
Prrc2a	G	A	17: 35,150,042	P2006L	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rsu1	A	G	2: 13,216,726		probably benign	Het
Selenoi	T	A	5: 30,252,742	W90R	probably damaging	Het
Spag17	T	A	3: 99,984,479	D216E	possibly damaging	Het
Spata31	C	A	13: 64,922,742	Y901*	probably null	Het
Ssrp1	T	A	2: 85,045,722	Y607*	probably null	Het
Stk10	T	A	11: 32,598,471	N346K	probably benign	Het
Surf1	G	T	2: 26,916,346		probably benign	Het
Synj2	A	T	17: 6,033,888	E283V	probably damaging	Het
Tg	G	A	15: 66,758,006		probably null	Het
Traf1	A	T	2: 34,956,277	D42E	probably benign	Het
Ttn	T	C	2: 76,740,865	I26561M	probably damaging	Het
Ubp1	T	C	9: 113,956,002	Y128H	probably damaging	Het
Vmn1r216	T	A	13: 23,099,336	I63K	probably benign	Het
Vmn1r49	T	A	6: 90,072,630	H130L	probably benign	Het
Vmn2r90	C	T	17: 17,712,305	T158I	probably damaging	Het
Vps13d	T	C	4: 145,054,155	S885G	probably damaging	Het

Other mutations in Glb1l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Glb1l3	APN	9	26853671	missense	probably damaging	1.00
IGL00537:Glb1l3	APN	9	26829050	missense	probably damaging	1.00
IGL01139:Glb1l3	APN	9	26818227	missense	probably benign	0.00
IGL01397:Glb1l3	APN	9	26825195	missense	probably benign
IGL01603:Glb1l3	APN	9	26859536	missense	probably damaging	1.00
IGL01938:Glb1l3	APN	9	26818529	missense	probably damaging	0.98
IGL02051:Glb1l3	APN	9	26825168	missense	probably benign	0.39
IGL02105:Glb1l3	APN	9	26818527	missense	probably damaging	0.99
IGL02132:Glb1l3	APN	9	26825170	missense	probably benign	0.07
IGL02249:Glb1l3	APN	9	26831268	missense	possibly damaging	0.60
IGL02363:Glb1l3	APN	9	26853644	missense	probably damaging	1.00
IGL02824:Glb1l3	APN	9	26850109	missense	probably damaging	1.00
IGL02938:Glb1l3	APN	9	26826759	missense	probably benign	0.26
IGL03181:Glb1l3	APN	9	26828363	splice site	probably null
IGL03288:Glb1l3	APN	9	26818305	missense	probably damaging	0.99
IGL03299:Glb1l3	APN	9	26859452	missense	probably damaging	1.00
R0479:Glb1l3	UTSW	9	26829093	missense	probably benign	0.31
R4036:Glb1l3	UTSW	9	26829047	missense	probably damaging	1.00
R4037:Glb1l3	UTSW	9	26829047	missense	probably damaging	1.00
R4038:Glb1l3	UTSW	9	26829047	missense	probably damaging	1.00
R4039:Glb1l3	UTSW	9	26829047	missense	probably damaging	1.00
R4840:Glb1l3	UTSW	9	26829053	missense	probably benign	0.06
R5645:Glb1l3	UTSW	9	26824826	missense	probably benign
R5907:Glb1l3	UTSW	9	26826383	missense	probably damaging	1.00
R5916:Glb1l3	UTSW	9	26854736	missense	probably benign	0.20
R6428:Glb1l3	UTSW	9	26859452	missense	probably damaging	1.00
R6489:Glb1l3	UTSW	9	26826831	missense	probably benign	0.31
R6532:Glb1l3	UTSW	9	26818442	missense	probably benign	0.02
R6560:Glb1l3	UTSW	9	26828424	splice site	probably null
R6653:Glb1l3	UTSW	9	26859588	missense	probably benign	0.09
R6802:Glb1l3	UTSW	9	26859352	splice site	probably null
R7347:Glb1l3	UTSW	9	26829003	missense	probably benign
R7531:Glb1l3	UTSW	9	26853654	missense	possibly damaging	0.62
R7542:Glb1l3	UTSW	9	26818195	missense	possibly damaging	0.70
R7725:Glb1l3	UTSW	9	26828363	splice site	probably null
Z1177:Glb1l3	UTSW	9	26818245	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTCACAAGATGCTATCCCC -3'
(R):5'- ACTAGGATCCGGGGTTGAAG -3'

Sequencing Primer
(F):5'- ATGCTATCCCCCATAAAAGACTTTTC -3'
(R):5'- CCAGATAGAATTTGGGGAAGGTTTC -3'

Posted On

2016-08-30