Incidental Mutation 'R6532:Glb1l3'
ID |
522419 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Glb1l3
|
Ensembl Gene |
ENSMUSG00000031966 |
Gene Name |
galactosidase, beta 1 like 3 |
Synonyms |
4921509F24Rik |
MMRRC Submission |
044658-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R6532 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
26729249-26772186 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26729738 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 619
(D619G)
|
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: D544G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000034448 Gene: ENSMUSG00000031966 AA Change: D544G
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: D619G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211353
|
Meta Mutation Damage Score |
0.1824 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.1%
|
Validation Efficiency |
100% (34/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
A |
G |
7: 45,626,803 (GRCm39) |
L1418P |
probably damaging |
Het |
Adal |
A |
G |
2: 120,976,604 (GRCm39) |
|
probably null |
Het |
Atr |
T |
A |
9: 95,790,461 (GRCm39) |
N1600K |
probably benign |
Het |
Cubn |
T |
C |
2: 13,463,813 (GRCm39) |
T631A |
probably benign |
Het |
Dpp9 |
C |
T |
17: 56,512,854 (GRCm39) |
G118D |
possibly damaging |
Het |
Ear1 |
C |
T |
14: 44,056,709 (GRCm39) |
R53H |
probably benign |
Het |
Exoc1 |
T |
C |
5: 76,685,684 (GRCm39) |
V132A |
probably damaging |
Het |
Fam227a |
C |
T |
15: 79,520,921 (GRCm39) |
R301Q |
probably benign |
Het |
Garnl3 |
A |
T |
2: 32,921,131 (GRCm39) |
M298K |
possibly damaging |
Het |
Haspin |
A |
T |
11: 73,028,377 (GRCm39) |
C237* |
probably null |
Het |
Hook1 |
T |
G |
4: 95,907,993 (GRCm39) |
|
probably null |
Het |
Hoxa7 |
A |
G |
6: 52,194,295 (GRCm39) |
F31L |
probably benign |
Het |
Hoxb7 |
C |
A |
11: 96,177,714 (GRCm39) |
S54* |
probably null |
Het |
Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
Ifi207 |
A |
G |
1: 173,557,211 (GRCm39) |
V516A |
possibly damaging |
Het |
Inca1 |
T |
C |
11: 70,586,733 (GRCm39) |
M1V |
probably null |
Het |
Kcnt2 |
A |
G |
1: 140,511,844 (GRCm39) |
T933A |
probably damaging |
Het |
Lama4 |
G |
A |
10: 38,924,073 (GRCm39) |
D494N |
possibly damaging |
Het |
Lrp1 |
A |
C |
10: 127,377,551 (GRCm39) |
H4133Q |
probably damaging |
Het |
Lrp1 |
A |
G |
10: 127,385,276 (GRCm39) |
F3542L |
probably damaging |
Het |
Myo1f |
A |
G |
17: 33,794,820 (GRCm39) |
D20G |
probably damaging |
Het |
Nlk |
G |
T |
11: 78,586,881 (GRCm39) |
A71E |
probably damaging |
Het |
Nvl |
G |
A |
1: 180,971,708 (GRCm39) |
|
probably null |
Het |
Or9m1 |
A |
T |
2: 87,733,546 (GRCm39) |
I158N |
probably damaging |
Het |
Pakap |
T |
C |
4: 57,855,174 (GRCm39) |
F168L |
probably benign |
Het |
Pcnx1 |
C |
A |
12: 82,027,738 (GRCm39) |
H1601N |
probably damaging |
Het |
Pnkp |
T |
A |
7: 44,506,829 (GRCm39) |
M1K |
probably null |
Het |
Skic2 |
G |
A |
17: 35,063,719 (GRCm39) |
R575C |
probably damaging |
Het |
Slc25a54 |
A |
G |
3: 109,019,368 (GRCm39) |
Y324C |
probably damaging |
Het |
Tdrd3 |
A |
G |
14: 87,743,252 (GRCm39) |
E400G |
probably damaging |
Het |
Unc5b |
A |
G |
10: 60,614,607 (GRCm39) |
I230T |
possibly damaging |
Het |
Wfdc2 |
A |
G |
2: 164,405,296 (GRCm39) |
T50A |
probably benign |
Het |
Zfp563 |
A |
G |
17: 33,324,672 (GRCm39) |
I422M |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGATCCTGTTTCGTAGCACTC -3'
(R):5'- CCACAATGCTCTGCTCTCAG -3'
Sequencing Primer
(F):5'- CTTGTCTGGATGTCAAAACCC -3'
(R):5'- ACAATGCTCTGCTCTCAGTCTATG -3'
|
Posted On |
2018-06-06 |