Incidental Mutation 'R4039:Glb1l3'
ID |
313848 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Glb1l3
|
Ensembl Gene |
ENSMUSG00000031966 |
Gene Name |
galactosidase, beta 1 like 3 |
Synonyms |
4921509F24Rik |
MMRRC Submission |
041614-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R4039 (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: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
98% (48/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
A |
T |
15: 59,888,215 (GRCm39) |
L75Q |
possibly damaging |
Het |
Cep290 |
T |
C |
10: 100,348,263 (GRCm39) |
|
probably null |
Het |
Col11a2 |
A |
G |
17: 34,264,748 (GRCm39) |
T268A |
probably benign |
Het |
Crnkl1 |
T |
A |
2: 145,774,247 (GRCm39) |
D72V |
possibly damaging |
Het |
Csn2 |
C |
T |
5: 87,845,935 (GRCm39) |
M1I |
probably null |
Het |
Dhcr24 |
T |
C |
4: 106,431,075 (GRCm39) |
F255L |
probably benign |
Het |
Epn2 |
A |
G |
11: 61,437,348 (GRCm39) |
Y75H |
probably damaging |
Het |
Galnt3 |
A |
T |
2: 65,915,671 (GRCm39) |
H563Q |
probably damaging |
Het |
Galnt9 |
T |
C |
5: 110,762,074 (GRCm39) |
V37A |
probably damaging |
Het |
Gorab |
A |
T |
1: 163,224,635 (GRCm39) |
D55E |
possibly damaging |
Het |
Herc2 |
G |
A |
7: 55,806,159 (GRCm39) |
R2318Q |
probably damaging |
Het |
Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
Hspb8 |
A |
G |
5: 116,547,403 (GRCm39) |
V193A |
probably benign |
Het |
Ly75 |
A |
G |
2: 60,183,339 (GRCm39) |
L481P |
probably damaging |
Het |
Lyzl1 |
T |
C |
18: 4,169,140 (GRCm39) |
L48P |
probably damaging |
Het |
Mettl27 |
C |
T |
5: 134,969,463 (GRCm39) |
Q212* |
probably null |
Het |
Mmachc |
T |
A |
4: 116,563,215 (GRCm39) |
T47S |
probably damaging |
Het |
Ncam2 |
C |
T |
16: 81,287,211 (GRCm39) |
S375L |
probably benign |
Het |
Ogfrl1 |
T |
C |
1: 23,418,045 (GRCm39) |
|
probably benign |
Het |
Parp9 |
T |
C |
16: 35,780,417 (GRCm39) |
L461P |
probably damaging |
Het |
Pcsk7 |
A |
G |
9: 45,839,305 (GRCm39) |
|
probably null |
Het |
Plekhh1 |
C |
A |
12: 79,101,957 (GRCm39) |
H342Q |
probably benign |
Het |
Prdm13 |
T |
G |
4: 21,685,774 (GRCm39) |
|
probably benign |
Het |
Prkaa2 |
T |
C |
4: 104,908,444 (GRCm39) |
N144D |
probably damaging |
Het |
Ptpn12 |
A |
T |
5: 21,207,508 (GRCm39) |
Y283* |
probably null |
Het |
Rab12 |
T |
C |
17: 66,807,396 (GRCm39) |
Y111C |
possibly damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,842,486 (GRCm39) |
N61S |
probably damaging |
Het |
Rims1 |
T |
C |
1: 22,514,793 (GRCm39) |
S537G |
probably damaging |
Het |
Sash1 |
G |
T |
10: 8,605,391 (GRCm39) |
P1000T |
probably damaging |
Het |
Skint5 |
G |
T |
4: 113,743,011 (GRCm39) |
T352K |
unknown |
Het |
Slc12a5 |
A |
G |
2: 164,834,250 (GRCm39) |
E757G |
probably benign |
Het |
Sycp2 |
C |
A |
2: 178,022,720 (GRCm39) |
M470I |
possibly damaging |
Het |
Szt2 |
T |
C |
4: 118,222,149 (GRCm39) |
|
probably benign |
Het |
Tbc1d1 |
A |
G |
5: 64,473,771 (GRCm39) |
T765A |
probably damaging |
Het |
Tgfbr2 |
T |
C |
9: 116,004,105 (GRCm39) |
M1V |
probably null |
Het |
Tnfrsf11a |
A |
G |
1: 105,755,464 (GRCm39) |
|
probably null |
Het |
Trim43b |
A |
G |
9: 88,973,400 (GRCm39) |
L111P |
probably damaging |
Het |
Ttbk2 |
A |
T |
2: 120,576,276 (GRCm39) |
S900R |
probably benign |
Het |
Unc79 |
G |
A |
12: 103,041,208 (GRCm39) |
C747Y |
possibly damaging |
Het |
Vmn1r218 |
T |
C |
13: 23,320,971 (GRCm39) |
V26A |
possibly damaging |
Het |
Vmn2r115 |
A |
T |
17: 23,564,077 (GRCm39) |
Y83F |
probably benign |
Het |
Zfp536 |
A |
T |
7: 37,268,975 (GRCm39) |
L147Q |
probably damaging |
Het |
Zfp931 |
T |
A |
2: 177,709,777 (GRCm39) |
Q203L |
possibly damaging |
Het |
Zswim2 |
G |
A |
2: 83,746,338 (GRCm39) |
H367Y |
probably 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 |
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 |
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'- CAGGTGAAAAGCCTCAATTCTCG -3'
(R):5'- TGGTTCCACCTACTTAATGGTG -3'
Sequencing Primer
(F):5'- CTTGTTAGGACCTCGTGATACAAGAG -3'
(R):5'- GTTCCACCTACTTAATGGTGAAAAAG -3'
|
Posted On |
2015-04-30 |