Incidental Mutation 'IGL01397:Glb1l3'
| ID |
79507 |
| 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)
|
| Stock # |
IGL01397
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
26729249-26772186 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 26736491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 524
(D524N)
|
| 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: D449N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034448
Gene: ENSMUSG00000031966
AA Change: D449N
| 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 benign
Transcript: ENSMUST00000210274
AA Change: D524N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211353
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
A |
C |
2: 127,876,811 (GRCm39) |
T436P |
possibly damaging |
Het |
| Afap1 |
T |
A |
5: 36,126,052 (GRCm39) |
V349E |
probably damaging |
Het |
| Arfgef1 |
C |
T |
1: 10,229,796 (GRCm39) |
V1302I |
probably benign |
Het |
| Atp11a |
T |
A |
8: 12,862,321 (GRCm39) |
W58R |
probably damaging |
Het |
| Brpf3 |
A |
T |
17: 29,036,606 (GRCm39) |
K670N |
probably benign |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Cenpp |
T |
C |
13: 49,794,759 (GRCm39) |
D136G |
probably damaging |
Het |
| Cep85 |
T |
C |
4: 133,883,517 (GRCm39) |
E124G |
probably damaging |
Het |
| Crybb3 |
T |
C |
5: 113,227,701 (GRCm39) |
E40G |
probably damaging |
Het |
| Dennd2d |
G |
T |
3: 106,394,365 (GRCm39) |
|
probably null |
Het |
| Dhx34 |
A |
G |
7: 15,944,468 (GRCm39) |
L582P |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,296,825 (GRCm39) |
K5738R |
probably damaging |
Het |
| Eif4g1 |
T |
A |
16: 20,498,425 (GRCm39) |
L328Q |
probably damaging |
Het |
| Eya4 |
T |
C |
10: 23,015,897 (GRCm39) |
K357E |
probably benign |
Het |
| F8 |
A |
G |
X: 74,423,145 (GRCm39) |
S25P |
probably benign |
Het |
| Fgd2 |
A |
G |
17: 29,586,949 (GRCm39) |
E293G |
probably damaging |
Het |
| Foxi1 |
T |
A |
11: 34,157,599 (GRCm39) |
Q142L |
probably damaging |
Het |
| Gfm1 |
A |
G |
3: 67,350,991 (GRCm39) |
E316G |
probably benign |
Het |
| Heatr5a |
A |
T |
12: 51,941,152 (GRCm39) |
V1366D |
possibly damaging |
Het |
| Idh1 |
T |
C |
1: 65,207,754 (GRCm39) |
T142A |
possibly damaging |
Het |
| Lamc1 |
C |
A |
1: 153,126,880 (GRCm39) |
G422V |
probably damaging |
Het |
| Lars1 |
A |
T |
18: 42,361,094 (GRCm39) |
H691Q |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,837,042 (GRCm39) |
Y1259C |
probably damaging |
Het |
| Muc19 |
T |
A |
15: 91,778,498 (GRCm39) |
|
noncoding transcript |
Het |
| Nphs1 |
A |
G |
7: 30,186,089 (GRCm39) |
D1240G |
probably benign |
Het |
| Or3a1b |
T |
A |
11: 74,012,590 (GRCm39) |
N158K |
probably damaging |
Het |
| Or5w1 |
A |
T |
2: 87,487,249 (GRCm39) |
N5K |
probably damaging |
Het |
| Pabir2 |
G |
A |
X: 52,349,088 (GRCm39) |
T121I |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,679,098 (GRCm39) |
N290S |
probably benign |
Het |
| Pex5l |
G |
A |
3: 33,006,746 (GRCm39) |
T541I |
probably damaging |
Het |
| Plch1 |
A |
C |
3: 63,639,150 (GRCm39) |
|
probably null |
Het |
| Ppp4r3b |
C |
T |
11: 29,163,594 (GRCm39) |
A722V |
probably benign |
Het |
| Ptges3 |
T |
C |
10: 127,906,069 (GRCm39) |
S85P |
probably benign |
Het |
| R3hdm2 |
C |
T |
10: 127,294,719 (GRCm39) |
R201W |
probably damaging |
Het |
| Rcan2 |
C |
A |
17: 44,147,359 (GRCm39) |
Q66K |
possibly damaging |
Het |
| Skint4 |
A |
G |
4: 111,977,207 (GRCm39) |
N199S |
possibly damaging |
Het |
| Smc4 |
A |
G |
3: 68,938,877 (GRCm39) |
T951A |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,762,444 (GRCm39) |
|
probably benign |
Het |
| Snx30 |
T |
C |
4: 59,894,526 (GRCm39) |
V368A |
probably benign |
Het |
| Spata31d1a |
C |
T |
13: 59,849,552 (GRCm39) |
A859T |
probably damaging |
Het |
| Tg |
G |
A |
15: 66,567,941 (GRCm39) |
|
probably benign |
Het |
| Tmem132b |
T |
C |
5: 125,775,792 (GRCm39) |
V422A |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,933,647 (GRCm39) |
S2356P |
probably damaging |
Het |
| Vmn1r122 |
A |
G |
7: 20,867,707 (GRCm39) |
V116A |
possibly damaging |
Het |
| Washc2 |
A |
G |
6: 116,224,959 (GRCm39) |
D683G |
probably benign |
Het |
| Wdr35 |
C |
A |
12: 9,058,550 (GRCm39) |
T580K |
probably benign |
Het |
| Wwc2 |
T |
A |
8: 48,321,311 (GRCm39) |
N601I |
unknown |
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 |
|
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 |
|
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 |
2013-11-05 |
Incidental Mutation