Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01603:Glb1l3'

92223

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Glb1l3

Ensembl Gene

ENSMUSG00000031966

Gene Name

galactosidase, beta 1 like 3

Synonyms

4921509F24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL01603

Quality Score

Status

Chromosome

Chromosomal Location

26729249-26772186 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26770832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 78 (I78T)

Ref Sequence

ENSEMBL: ENSMUSP00000147979 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034448
AA Change: I2T

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

SMART Domains

Protein: ENSMUSP00000034448
Gene: ENSMUSG00000031966
AA Change: I2T

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 damaging
Transcript: ENSMUST00000210274
AA Change: I78T

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8l	T	A	17: 32,564,327 (GRCm39)	D20V	probably damaging	Het
Akr1c12	A	G	13: 4,322,926 (GRCm39)		probably null	Het
Baiap2l1	C	T	5: 144,217,625 (GRCm39)		probably benign	Het
Baz2a	T	C	10: 127,947,037 (GRCm39)	F184L	probably damaging	Het
Cadps	T	C	14: 12,454,154 (GRCm38)		probably benign	Het
Cbr4	A	T	8: 61,956,245 (GRCm39)	*237Y	probably null	Het
Cln3	T	G	7: 126,174,526 (GRCm39)	N275T	probably benign	Het
Csf1r	A	G	18: 61,262,373 (GRCm39)	E823G	probably damaging	Het
Ctr9	C	A	7: 110,648,538 (GRCm39)	A726D	probably damaging	Het
Def6	C	T	17: 28,438,714 (GRCm39)		probably benign	Het
Dock4	T	A	12: 40,743,030 (GRCm39)	I395N	probably damaging	Het
Eln	T	C	5: 134,747,894 (GRCm39)		probably benign	Het
Fasn	A	T	11: 120,706,891 (GRCm39)	H920Q	probably damaging	Het
Gm7275	A	T	16: 47,893,942 (GRCm39)		noncoding transcript	Het
Grm5	A	C	7: 87,252,386 (GRCm39)	Y212S	probably damaging	Het
Gtf2ird2	T	C	5: 134,231,129 (GRCm39)		probably benign	Het
Gucy1b1	A	G	3: 81,942,175 (GRCm39)	V528A	probably damaging	Het
Hspg2	G	A	4: 137,280,114 (GRCm39)	A3168T	probably damaging	Het
Kcnj6	A	G	16: 94,634,058 (GRCm39)	S18P	probably benign	Het
Kcnq5	T	A	1: 21,575,564 (GRCm39)	K294I	possibly damaging	Het
Lama4	G	A	10: 38,941,642 (GRCm39)	G693E	possibly damaging	Het
Ldb1	A	T	19: 46,024,014 (GRCm39)	I124K	probably damaging	Het
Lrrfip1	C	T	1: 91,043,635 (GRCm39)	T680I	probably benign	Het
Lypd10	T	A	7: 24,411,954 (GRCm39)	W45R	probably damaging	Het
Map3k19	T	A	1: 127,758,010 (GRCm39)	D186V	possibly damaging	Het
Mrgprx2	T	C	7: 48,132,374 (GRCm39)	Y148C	probably damaging	Het
Muc4	G	A	16: 32,569,473 (GRCm39)	A178T	probably benign	Het
Mylip	A	C	13: 45,543,479 (GRCm39)	E16A	probably benign	Het
Nek9	A	G	12: 85,352,379 (GRCm39)	F828S	probably damaging	Het
Obscn	A	G	11: 58,928,631 (GRCm39)	F6012L	probably damaging	Het
Or14a257	A	G	7: 86,138,139 (GRCm39)	S207P	possibly damaging	Het
Or2o1	A	C	11: 49,051,438 (GRCm39)	D199A	probably damaging	Het
Or5p54	A	G	7: 107,554,580 (GRCm39)	Y244C	possibly damaging	Het
Pcid2	T	A	8: 13,129,936 (GRCm39)	K273N	possibly damaging	Het
Plekhm3	C	T	1: 64,960,991 (GRCm39)	D422N	probably damaging	Het
Prr12	T	C	7: 44,692,909 (GRCm39)	H1541R	probably damaging	Het
Psg26	A	C	7: 18,209,028 (GRCm39)	V460G	probably damaging	Het
Rbmxl1	G	A	8: 79,232,459 (GRCm39)	R295*	probably null	Het
Sbf1	A	T	15: 89,187,481 (GRCm39)	V690E	probably damaging	Het
Serpinb2	T	A	1: 107,449,910 (GRCm39)	S108T	probably benign	Het
Sin3b	T	C	8: 73,476,692 (GRCm39)	Y709H	probably damaging	Het
Slc17a5	A	G	9: 78,481,989 (GRCm39)	W160R	probably damaging	Het
Spef2	T	A	15: 9,704,466 (GRCm39)	D449V	probably damaging	Het
Tas2r108	C	A	6: 40,470,720 (GRCm39)	N65K	possibly damaging	Het
Tex15	T	A	8: 34,063,575 (GRCm39)	F1002I	possibly damaging	Het
Trpm5	G	A	7: 142,629,338 (GRCm39)	S942L	probably benign	Het
Tspan5	T	C	3: 138,596,517 (GRCm39)	S52P	probably damaging	Het
Uqcrfs1	T	C	13: 30,725,181 (GRCm39)	T120A	probably benign	Het
Usp6nl	T	C	2: 6,428,246 (GRCm39)	F193L	probably damaging	Het
Vmn2r26	T	A	6: 124,030,833 (GRCm39)	C523S	probably damaging	Het
Wfdc2	C	T	2: 164,405,979 (GRCm39)	P92S	probably benign	Het
Zbtb18	A	T	1: 177,275,549 (GRCm39)	H303L	probably benign	Het
Zfp174	A	T	16: 3,672,153 (GRCm39)	H234L	probably benign	Het
Zmynd12	T	C	4: 119,299,117 (GRCm39)		probably null	Het

Other mutations in Glb1l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Glb1l3	APN	9	26,764,967 (GRCm39)	missense	probably damaging	1.00
IGL00537:Glb1l3	APN	9	26,740,346 (GRCm39)	missense	probably damaging	1.00
IGL01139:Glb1l3	APN	9	26,729,523 (GRCm39)	missense	probably benign	0.00
IGL01397:Glb1l3	APN	9	26,736,491 (GRCm39)	missense	probably benign
IGL01938:Glb1l3	APN	9	26,729,825 (GRCm39)	missense	probably damaging	0.98
IGL02051:Glb1l3	APN	9	26,736,464 (GRCm39)	missense	probably benign	0.39
IGL02105:Glb1l3	APN	9	26,729,823 (GRCm39)	missense	probably damaging	0.99
IGL02132:Glb1l3	APN	9	26,736,466 (GRCm39)	missense	probably benign	0.07
IGL02249:Glb1l3	APN	9	26,742,564 (GRCm39)	missense	possibly damaging	0.60
IGL02363:Glb1l3	APN	9	26,764,940 (GRCm39)	missense	probably damaging	1.00
IGL02824:Glb1l3	APN	9	26,761,405 (GRCm39)	missense	probably damaging	1.00
IGL02938:Glb1l3	APN	9	26,738,055 (GRCm39)	missense	probably benign	0.26
IGL03181:Glb1l3	APN	9	26,739,659 (GRCm39)	splice site	probably null
IGL03288:Glb1l3	APN	9	26,729,601 (GRCm39)	missense	probably damaging	0.99
IGL03299:Glb1l3	APN	9	26,770,748 (GRCm39)	missense	probably damaging	1.00
R0479:Glb1l3	UTSW	9	26,740,389 (GRCm39)	missense	probably benign	0.31
R4036:Glb1l3	UTSW	9	26,740,343 (GRCm39)	missense	probably damaging	1.00
R4037:Glb1l3	UTSW	9	26,740,343 (GRCm39)	missense	probably damaging	1.00
R4038:Glb1l3	UTSW	9	26,740,343 (GRCm39)	missense	probably damaging	1.00
R4039:Glb1l3	UTSW	9	26,740,343 (GRCm39)	missense	probably damaging	1.00
R4797:Glb1l3	UTSW	9	26,739,742 (GRCm39)	missense	probably damaging	0.96
R4840:Glb1l3	UTSW	9	26,740,349 (GRCm39)	missense	probably benign	0.06
R5645:Glb1l3	UTSW	9	26,736,122 (GRCm39)	missense	probably benign
R5907:Glb1l3	UTSW	9	26,737,679 (GRCm39)	missense	probably damaging	1.00
R5916:Glb1l3	UTSW	9	26,766,032 (GRCm39)	missense	probably benign	0.20
R6428:Glb1l3	UTSW	9	26,770,748 (GRCm39)	missense	probably damaging	1.00
R6489:Glb1l3	UTSW	9	26,738,127 (GRCm39)	missense	probably benign	0.31
R6532:Glb1l3	UTSW	9	26,729,738 (GRCm39)	missense	probably benign	0.02
R6560:Glb1l3	UTSW	9	26,739,720 (GRCm39)	splice site	probably null
R6653:Glb1l3	UTSW	9	26,770,884 (GRCm39)	missense	probably benign	0.09
R6802:Glb1l3	UTSW	9	26,770,648 (GRCm39)	splice site	probably null
R7347:Glb1l3	UTSW	9	26,740,299 (GRCm39)	missense	probably benign
R7531:Glb1l3	UTSW	9	26,764,950 (GRCm39)	missense	possibly damaging	0.62
R7542:Glb1l3	UTSW	9	26,729,491 (GRCm39)	missense	possibly damaging	0.70
R7725:Glb1l3	UTSW	9	26,739,659 (GRCm39)	splice site	probably null
R8998:Glb1l3	UTSW	9	26,764,914 (GRCm39)	critical splice donor site	probably null
R8999:Glb1l3	UTSW	9	26,764,914 (GRCm39)	critical splice donor site	probably null
R9158:Glb1l3	UTSW	9	26,765,005 (GRCm39)	nonsense	probably null
R9464:Glb1l3	UTSW	9	26,761,351 (GRCm39)	missense	probably damaging	1.00
R9536:Glb1l3	UTSW	9	26,770,929 (GRCm39)	missense	probably benign	0.01
Z1177:Glb1l3	UTSW	9	26,729,541 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09