Mutagenetix > Incidental Mutation

Incidental Mutation 'R5916:Glb1l3'

461341

Institutional Source

Beutler Lab

Gene Symbol

Glb1l3

Ensembl Gene

ENSMUSG00000031966

Gene Name

galactosidase, beta 1 like 3

Synonyms

MMRRC Submission

044113-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R5916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26817953-26860890 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26854736 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 129 (I129V)

Ref Sequence

ENSEMBL: ENSMUSP00000147979 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034448
AA Change: I53V

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000034448
Gene: ENSMUSG00000031966
AA Change: I53V

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

probably benign
Transcript: ENSMUST00000210274
AA Change: I129V

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 97.2%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	C	T	6: 149,326,578 (GRCm38)	T374I	probably damaging	Het
4930563D23Rik	T	A	16: 92,320,671 (GRCm38)	E243V	probably damaging	Het
Aadacl4	A	T	4: 144,622,980 (GRCm38)	N269I	possibly damaging	Het
Abcc1	G	T	16: 14,465,142 (GRCm38)	V1161F	possibly damaging	Het
Adam3	A	T	8: 24,684,539 (GRCm38)		probably null	Het
Agt	A	T	8: 124,563,858 (GRCm38)	S237T	possibly damaging	Het
Ano3	A	T	2: 110,681,836 (GRCm38)	F674L	probably benign	Het
Asb2	G	T	12: 103,323,876 (GRCm38)	A504E	probably damaging	Het
Atp13a1	T	A	8: 69,807,098 (GRCm38)	I1113N	probably damaging	Het
Atxn7l2	T	C	3: 108,205,662 (GRCm38)		probably null	Het
Bambi	A	G	18: 3,511,463 (GRCm38)	T95A	probably benign	Het
Ccdc173	A	T	2: 69,789,462 (GRCm38)	M1K	probably null	Het
Clrn1	T	C	3: 58,846,362 (GRCm38)	T193A	probably benign	Het
Colgalt2	T	A	1: 152,504,122 (GRCm38)	D437E	probably damaging	Het
Dchs1	C	A	7: 105,759,166 (GRCm38)	A1820S	probably damaging	Het
Dnah12	T	A	14: 26,706,918 (GRCm38)	I233N	possibly damaging	Het
Dsc3	T	C	18: 19,987,020 (GRCm38)	N194D	probably damaging	Het
Dync2h1	A	G	9: 7,102,309 (GRCm38)		probably null	Het
Erich3	A	T	3: 154,695,823 (GRCm38)	R36S	probably damaging	Het
Fmnl3	A	T	15: 99,321,828 (GRCm38)	C680S	probably damaging	Het
Focad	T	C	4: 88,357,541 (GRCm38)	L1129P	unknown	Het
Fzd3	G	A	14: 65,202,729 (GRCm38)	T664I	probably benign	Het
Heatr1	T	C	13: 12,434,471 (GRCm38)	F1950S	probably damaging	Het
Herc6	G	A	6: 57,646,203 (GRCm38)	G597E	probably benign	Het
Hmcn2	T	A	2: 31,396,139 (GRCm38)	V2101D	probably damaging	Het
Il17re	T	A	6: 113,470,123 (GRCm38)	C612S	probably damaging	Het
Il1f9	T	G	2: 24,192,794 (GRCm38)	*194E	probably null	Het
Junb	T	C	8: 84,977,876 (GRCm38)	Y185C	probably benign	Het
Lrriq1	G	A	10: 103,221,382 (GRCm38)	Q186*	probably null	Het
Lrrn2	T	A	1: 132,937,800 (GRCm38)	V201E	probably damaging	Het
Ly6l	A	T	15: 75,451,178 (GRCm38)	T68S	probably benign	Het
March1	G	T	8: 66,387,111 (GRCm38)	R182L	possibly damaging	Het
Megf6	A	G	4: 154,249,425 (GRCm38)		probably null	Het
Mga	T	A	2: 119,964,312 (GRCm38)	S2708T	probably benign	Het
Mx1	T	C	16: 97,451,733 (GRCm38)	T396A	probably benign	Het
Naip5	A	C	13: 100,222,701 (GRCm38)	S676A	probably benign	Het
Npepl1	G	T	2: 174,121,544 (GRCm38)	W456C	probably benign	Het
Ntrk2	A	G	13: 58,808,729 (GRCm38)	M1V	probably null	Het
Nufip1	T	C	14: 76,134,900 (GRCm38)	*485Q	probably null	Het
Ocln	T	G	13: 100,506,179 (GRCm38)	D216A	possibly damaging	Het
Olfr108	C	T	17: 37,445,679 (GRCm38)	L53F	probably benign	Het
Olfr1308	A	G	2: 111,960,830 (GRCm38)	M81T	probably damaging	Het
Olfr417	A	T	1: 174,369,132 (GRCm38)	T72S	probably damaging	Het
Olfr544	G	A	7: 102,484,379 (GRCm38)	S247F	probably damaging	Het
Papd4	T	C	13: 93,175,547 (GRCm38)	D215G	probably damaging	Het
Ptprq	A	T	10: 107,523,513 (GRCm38)	M2243K	probably damaging	Het
Rad51b	C	T	12: 79,325,082 (GRCm38)	Q190*	probably null	Het
Rfx8	T	C	1: 39,688,619 (GRCm38)	Y182C	probably benign	Het
Rpgrip1l	C	A	8: 91,252,913 (GRCm38)	R967L	possibly damaging	Het
Scube2	A	G	7: 109,831,724 (GRCm38)	Y423H	possibly damaging	Het
Sipa1l2	A	T	8: 125,468,573 (GRCm38)	Y809N	probably damaging	Het
Slc35f1	C	A	10: 52,933,221 (GRCm38)	Y101*	probably null	Het
Tbc1d22a	A	G	15: 86,214,608 (GRCm38)	K12E	possibly damaging	Het
Tmcc2	C	T	1: 132,357,691 (GRCm38)	V646M	probably damaging	Het
Tpp1	A	T	7: 105,749,380 (GRCm38)	M243K	probably damaging	Het
Trappc12	A	G	12: 28,691,514 (GRCm38)	L732P	probably damaging	Het
U2af2	A	T	7: 5,079,180 (GRCm38)		probably null	Het
Utrn	T	A	10: 12,665,051 (GRCm38)	N1877Y	probably damaging	Het
Vsir	C	T	10: 60,358,037 (GRCm38)	T93I	probably damaging	Het
Zkscan5	T	A	5: 145,205,302 (GRCm38)	M3K	possibly damaging	Het
Zscan29	G	T	2: 121,164,037 (GRCm38)	T489N	probably damaging	Het

Other mutations in Glb1l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Glb1l3	APN	9	26,853,671 (GRCm38)	missense	probably damaging	1.00
IGL00537:Glb1l3	APN	9	26,829,050 (GRCm38)	missense	probably damaging	1.00
IGL01139:Glb1l3	APN	9	26,818,227 (GRCm38)	missense	probably benign	0.00
IGL01397:Glb1l3	APN	9	26,825,195 (GRCm38)	missense	probably benign
IGL01603:Glb1l3	APN	9	26,859,536 (GRCm38)	missense	probably damaging	1.00
IGL01938:Glb1l3	APN	9	26,818,529 (GRCm38)	missense	probably damaging	0.98
IGL02051:Glb1l3	APN	9	26,825,168 (GRCm38)	missense	probably benign	0.39
IGL02105:Glb1l3	APN	9	26,818,527 (GRCm38)	missense	probably damaging	0.99
IGL02132:Glb1l3	APN	9	26,825,170 (GRCm38)	missense	probably benign	0.07
IGL02249:Glb1l3	APN	9	26,831,268 (GRCm38)	missense	possibly damaging	0.60
IGL02363:Glb1l3	APN	9	26,853,644 (GRCm38)	missense	probably damaging	1.00
IGL02824:Glb1l3	APN	9	26,850,109 (GRCm38)	missense	probably damaging	1.00
IGL02938:Glb1l3	APN	9	26,826,759 (GRCm38)	missense	probably benign	0.26
IGL03181:Glb1l3	APN	9	26,828,363 (GRCm38)	splice site	probably null
IGL03288:Glb1l3	APN	9	26,818,305 (GRCm38)	missense	probably damaging	0.99
IGL03299:Glb1l3	APN	9	26,859,452 (GRCm38)	missense	probably damaging	1.00
R0479:Glb1l3	UTSW	9	26,829,093 (GRCm38)	missense	probably benign	0.31
R4036:Glb1l3	UTSW	9	26,829,047 (GRCm38)	missense	probably damaging	1.00
R4037:Glb1l3	UTSW	9	26,829,047 (GRCm38)	missense	probably damaging	1.00
R4038:Glb1l3	UTSW	9	26,829,047 (GRCm38)	missense	probably damaging	1.00
R4039:Glb1l3	UTSW	9	26,829,047 (GRCm38)	missense	probably damaging	1.00
R4797:Glb1l3	UTSW	9	26,828,446 (GRCm38)	missense	probably damaging	0.96
R4840:Glb1l3	UTSW	9	26,829,053 (GRCm38)	missense	probably benign	0.06
R5645:Glb1l3	UTSW	9	26,824,826 (GRCm38)	missense	probably benign
R5907:Glb1l3	UTSW	9	26,826,383 (GRCm38)	missense	probably damaging	1.00
R6428:Glb1l3	UTSW	9	26,859,452 (GRCm38)	missense	probably damaging	1.00
R6489:Glb1l3	UTSW	9	26,826,831 (GRCm38)	missense	probably benign	0.31
R6532:Glb1l3	UTSW	9	26,818,442 (GRCm38)	missense	probably benign	0.02
R6560:Glb1l3	UTSW	9	26,828,424 (GRCm38)	splice site	probably null
R6653:Glb1l3	UTSW	9	26,859,588 (GRCm38)	missense	probably benign	0.09
R6802:Glb1l3	UTSW	9	26,859,352 (GRCm38)	splice site	probably null
R7347:Glb1l3	UTSW	9	26,829,003 (GRCm38)	missense	probably benign
R7531:Glb1l3	UTSW	9	26,853,654 (GRCm38)	missense	possibly damaging	0.62
R7542:Glb1l3	UTSW	9	26,818,195 (GRCm38)	missense	possibly damaging	0.70
R7725:Glb1l3	UTSW	9	26,828,363 (GRCm38)	splice site	probably null
R8998:Glb1l3	UTSW	9	26,853,618 (GRCm38)	critical splice donor site	probably null
R8999:Glb1l3	UTSW	9	26,853,618 (GRCm38)	critical splice donor site	probably null
R9158:Glb1l3	UTSW	9	26,853,709 (GRCm38)	nonsense	probably null
R9464:Glb1l3	UTSW	9	26,850,055 (GRCm38)	missense	probably damaging	1.00
R9536:Glb1l3	UTSW	9	26,859,633 (GRCm38)	missense	probably benign	0.01
Z1177:Glb1l3	UTSW	9	26,818,245 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACTAGGGAATATCCAGATTCTG -3'
(R):5'- GGGAAAACATGGATCTGTCTGC -3'

Sequencing Primer
(F):5'- GAGACATACTGAGGGCTT -3'
(R):5'- ACATGGATCTGTCTGCATAGC -3'

Posted On

2017-02-28