Incidental Mutation 'IGL02105:Glb1l3'
ID |
279951 |
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: 0.069)
|
Stock # |
IGL02105
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
26729249-26772186 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 26729823 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 516
(I516F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034448
(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: I516F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000034448 Gene: ENSMUSG00000031966 AA Change: I516F
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: I591F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211353
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl4 |
G |
T |
3: 95,587,374 (GRCm39) |
P734H |
probably damaging |
Het |
Arfip2 |
A |
T |
7: 105,288,590 (GRCm39) |
I14N |
probably damaging |
Het |
Asap3 |
G |
T |
4: 135,955,785 (GRCm39) |
|
probably null |
Het |
Atg2a |
T |
A |
19: 6,300,433 (GRCm39) |
|
probably benign |
Het |
Bbs12 |
T |
C |
3: 37,374,296 (GRCm39) |
L248P |
probably damaging |
Het |
Brd3 |
A |
T |
2: 27,349,788 (GRCm39) |
I255N |
probably damaging |
Het |
Ccdc141 |
A |
G |
2: 76,879,921 (GRCm39) |
|
probably null |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,659,116 (GRCm39) |
D25E |
probably damaging |
Het |
Cobl |
T |
C |
11: 12,199,651 (GRCm39) |
K1325R |
probably damaging |
Het |
Dnmt1 |
T |
A |
9: 20,819,178 (GRCm39) |
E1486V |
unknown |
Het |
Dock2 |
T |
C |
11: 34,605,352 (GRCm39) |
N256D |
probably damaging |
Het |
Dpp3 |
G |
A |
19: 4,966,799 (GRCm39) |
S408L |
probably damaging |
Het |
Dync2h1 |
C |
T |
9: 7,075,892 (GRCm39) |
G2992R |
probably damaging |
Het |
Eef1a1 |
T |
C |
9: 78,387,833 (GRCm39) |
D35G |
probably benign |
Het |
Fntb |
A |
G |
12: 76,909,263 (GRCm39) |
K84E |
probably benign |
Het |
Gfi1 |
A |
G |
5: 107,871,588 (GRCm39) |
|
probably null |
Het |
Hltf |
A |
G |
3: 20,146,921 (GRCm39) |
N560S |
probably damaging |
Het |
Kif21b |
A |
G |
1: 136,099,041 (GRCm39) |
N1443S |
probably benign |
Het |
Knl1 |
T |
A |
2: 118,902,289 (GRCm39) |
I1330K |
probably benign |
Het |
Krt20 |
C |
T |
11: 99,328,827 (GRCm39) |
V33M |
probably benign |
Het |
Lao1 |
A |
G |
4: 118,825,640 (GRCm39) |
T487A |
probably damaging |
Het |
Larp4 |
A |
G |
15: 99,883,952 (GRCm39) |
E63G |
probably damaging |
Het |
Lrp1 |
A |
G |
10: 127,380,448 (GRCm39) |
V3901A |
probably damaging |
Het |
Lrrc17 |
A |
G |
5: 21,775,255 (GRCm39) |
I272M |
probably benign |
Het |
Malrd1 |
A |
T |
2: 16,132,674 (GRCm39) |
Q1865L |
unknown |
Het |
Mtg1 |
T |
C |
7: 139,730,119 (GRCm39) |
L305P |
probably damaging |
Het |
Mylk4 |
T |
A |
13: 32,904,545 (GRCm39) |
E427D |
probably benign |
Het |
Myom1 |
G |
T |
17: 71,354,711 (GRCm39) |
|
probably benign |
Het |
Nbeal1 |
A |
G |
1: 60,292,660 (GRCm39) |
E1104G |
probably damaging |
Het |
Obox5 |
A |
G |
7: 15,492,500 (GRCm39) |
M152V |
probably benign |
Het |
Olfm2 |
C |
T |
9: 20,583,476 (GRCm39) |
V203M |
probably damaging |
Het |
Or2l13 |
T |
G |
16: 19,306,011 (GRCm39) |
L141R |
probably benign |
Het |
Or8b12c |
A |
T |
9: 37,715,891 (GRCm39) |
H228L |
possibly damaging |
Het |
Pf4 |
A |
G |
5: 90,921,114 (GRCm39) |
S105G |
probably damaging |
Het |
Phlpp2 |
T |
A |
8: 110,631,040 (GRCm39) |
I228N |
probably damaging |
Het |
Sall1 |
T |
G |
8: 89,759,196 (GRCm39) |
S303R |
probably damaging |
Het |
Setd5 |
A |
G |
6: 113,094,541 (GRCm39) |
E486G |
probably damaging |
Het |
Slc9a5 |
C |
T |
8: 106,076,075 (GRCm39) |
P23S |
probably damaging |
Het |
Tbc1d9b |
T |
A |
11: 50,040,653 (GRCm39) |
I390N |
probably damaging |
Het |
Trp53 |
T |
C |
11: 69,479,329 (GRCm39) |
V169A |
probably damaging |
Het |
Usp4 |
A |
G |
9: 108,262,131 (GRCm39) |
D791G |
probably damaging |
Het |
Vmn1r76 |
A |
G |
7: 11,664,417 (GRCm39) |
S266P |
possibly damaging |
Het |
Vmn2r27 |
A |
G |
6: 124,174,308 (GRCm39) |
|
probably benign |
Het |
Xirp1 |
C |
T |
9: 119,846,063 (GRCm39) |
G940E |
probably damaging |
Het |
Zfp407 |
A |
T |
18: 84,580,845 (GRCm39) |
C89* |
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 |
|
IGL01603:Glb1l3
|
APN |
9 |
26,770,832 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2015-04-16 |