Incidental Mutation 'R4036:Glb1l3'
ID |
313715 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Glb1l3
|
Ensembl Gene |
ENSMUSG00000031966 |
Gene Name |
galactosidase, beta 1 like 3 |
Synonyms |
4921509F24Rik |
MMRRC Submission |
040963-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
R4036 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
26729249-26772186 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 26740343 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 329
(M329R)
|
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: M253R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000034448 Gene: ENSMUSG00000031966 AA Change: M253R
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: M329R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211353
|
Meta Mutation Damage Score |
0.9286 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
Validation Efficiency |
100% (33/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544M13Rik |
T |
C |
13: 114,744,205 (GRCm39) |
|
noncoding transcript |
Het |
Ahctf1 |
T |
C |
1: 179,590,181 (GRCm39) |
Q1364R |
possibly damaging |
Het |
Anxa2 |
A |
G |
9: 69,395,352 (GRCm39) |
N265S |
probably damaging |
Het |
Bcan |
A |
G |
3: 87,903,423 (GRCm39) |
|
probably null |
Het |
Cntln |
A |
G |
4: 84,924,725 (GRCm39) |
Y610C |
probably damaging |
Het |
Cyp39a1 |
C |
A |
17: 43,987,831 (GRCm39) |
A99E |
probably damaging |
Het |
Drc1 |
A |
G |
5: 30,504,526 (GRCm39) |
I223V |
probably benign |
Het |
Eef2kmt |
A |
T |
16: 5,063,135 (GRCm39) |
V335D |
probably damaging |
Het |
Fanci |
T |
C |
7: 79,094,570 (GRCm39) |
L1167P |
probably damaging |
Het |
Gns |
C |
A |
10: 121,207,095 (GRCm39) |
T72N |
probably damaging |
Het |
Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
Klk1b8 |
A |
G |
7: 43,447,511 (GRCm39) |
I9V |
probably null |
Het |
Map4 |
A |
G |
9: 109,861,283 (GRCm39) |
T216A |
possibly damaging |
Het |
Metrn |
T |
C |
17: 26,013,984 (GRCm39) |
T281A |
probably benign |
Het |
Mid1-ps1 |
G |
A |
Y: 90,773,563 (GRCm39) |
|
noncoding transcript |
Het |
Ndc1 |
G |
A |
4: 107,268,269 (GRCm39) |
D602N |
probably benign |
Het |
Nsd1 |
A |
G |
13: 55,361,524 (GRCm39) |
D164G |
possibly damaging |
Het |
Or5ac22 |
T |
A |
16: 59,135,113 (GRCm39) |
H219L |
probably benign |
Het |
Pcdha8 |
T |
C |
18: 37,125,914 (GRCm39) |
M132T |
probably benign |
Het |
Pomt2 |
A |
G |
12: 87,158,296 (GRCm39) |
|
probably null |
Het |
Prrt3 |
AGGGGG |
AGGGG |
6: 113,474,641 (GRCm39) |
|
probably null |
Het |
Rfx6 |
T |
A |
10: 51,602,842 (GRCm39) |
H786Q |
probably damaging |
Het |
Scn4a |
A |
C |
11: 106,212,883 (GRCm39) |
L1374R |
possibly damaging |
Het |
Slc16a9 |
C |
T |
10: 70,110,786 (GRCm39) |
T124M |
probably damaging |
Het |
Slc46a2 |
A |
T |
4: 59,913,818 (GRCm39) |
F368L |
probably damaging |
Het |
St18 |
T |
A |
1: 6,898,010 (GRCm39) |
I604K |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,548,497 (GRCm39) |
V31935A |
possibly damaging |
Het |
Urb1 |
T |
C |
16: 90,584,974 (GRCm39) |
H549R |
probably benign |
Het |
Vmn1r219 |
A |
G |
13: 23,347,272 (GRCm39) |
M154V |
probably benign |
Het |
Zfp575 |
G |
A |
7: 24,285,440 (GRCm39) |
S67L |
possibly damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAGGTGAAAAGCCTCAATTCTC -3'
(R):5'- TGGTTCCACCTACTTAATGGTG -3'
Sequencing Primer
(F):5'- CTTGTTAGGACCTCGTGATACAAGAG -3'
(R):5'- GTTCCACCTACTTAATGGTGAAAAAG -3'
|
Posted On |
2015-04-30 |