Incidental Mutation 'IGL02057:Galm'
| ID |
185274 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Galm
|
| Ensembl Gene |
ENSMUSG00000035473 |
| Gene Name |
galactose mutarotase |
| Synonyms |
aldose 1-epimerase, A530057M15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
IGL02057
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
80434886-80492461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80488996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 214
(I214T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039205]
|
| AlphaFold |
Q8K157 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039205
AA Change: I214T
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000040580
Gene: ENSMUSG00000035473
AA Change: I214T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldose_epim
|
20 |
338 |
7.1e-102 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000133955
AA Change: I41T
|
| SMART Domains |
Protein: ENSMUSP00000120018
Gene: ENSMUSG00000035473
AA Change: I41T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldose_epim
|
1 |
159 |
6.1e-41 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose metabolism by maintaining the equilibrium of alpha and beta anomers of galactose.[provided by RefSeq, Mar 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankk1 |
T |
C |
9: 49,328,072 (GRCm39) |
N369S |
probably damaging |
Het |
| Atp13a3 |
C |
T |
16: 30,151,182 (GRCm39) |
A1043T |
probably benign |
Het |
| AY358078 |
G |
A |
14: 52,057,762 (GRCm39) |
V287I |
unknown |
Het |
| Cemip |
T |
C |
7: 83,636,661 (GRCm39) |
E324G |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,431,052 (GRCm39) |
D1487E |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,517,273 (GRCm39) |
Q879* |
probably null |
Het |
| Eci2 |
A |
G |
13: 35,174,759 (GRCm39) |
L50P |
probably damaging |
Het |
| Erp44 |
A |
T |
4: 48,236,964 (GRCm39) |
H65Q |
probably benign |
Het |
| Fahd1 |
A |
T |
17: 25,068,570 (GRCm39) |
I169N |
probably damaging |
Het |
| Gipc3 |
T |
A |
10: 81,178,968 (GRCm39) |
N42Y |
probably damaging |
Het |
| H2-Eb2 |
A |
T |
17: 34,554,741 (GRCm39) |
|
probably benign |
Het |
| Itgb3 |
A |
T |
11: 104,523,174 (GRCm39) |
I113F |
probably damaging |
Het |
| Lef1 |
T |
G |
3: 130,994,051 (GRCm39) |
Y342* |
probably null |
Het |
| Lilrb4a |
G |
A |
10: 51,368,103 (GRCm39) |
D168N |
possibly damaging |
Het |
| Or51b6b |
T |
A |
7: 103,309,860 (GRCm39) |
Y199F |
probably damaging |
Het |
| Or5m10 |
T |
A |
2: 85,717,275 (GRCm39) |
F44I |
probably benign |
Het |
| Orc1 |
T |
G |
4: 108,445,926 (GRCm39) |
S15A |
possibly damaging |
Het |
| Pdk2 |
C |
T |
11: 94,919,324 (GRCm39) |
G317D |
probably benign |
Het |
| Rab37 |
T |
C |
11: 115,051,543 (GRCm39) |
S217P |
probably benign |
Het |
| Rere |
C |
T |
4: 150,699,289 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,594,536 (GRCm39) |
G1286S |
probably damaging |
Het |
| Sirt1 |
A |
G |
10: 63,160,982 (GRCm39) |
S357P |
probably damaging |
Het |
| Smpdl3b |
T |
A |
4: 132,461,024 (GRCm39) |
E351V |
probably benign |
Het |
| Sox6 |
C |
A |
7: 115,149,310 (GRCm39) |
G355W |
probably damaging |
Het |
| Spopfm2 |
T |
A |
3: 94,083,662 (GRCm39) |
S50C |
probably damaging |
Het |
| Srpk2 |
G |
T |
5: 23,723,705 (GRCm39) |
A502E |
probably damaging |
Het |
| Trim67 |
G |
A |
8: 125,549,869 (GRCm39) |
V500I |
probably benign |
Het |
| Ube2v2 |
A |
G |
16: 15,394,922 (GRCm39) |
V83A |
probably benign |
Het |
| Usp43 |
A |
T |
11: 67,747,113 (GRCm39) |
S865T |
probably benign |
Het |
| Vdac1 |
G |
A |
11: 52,267,371 (GRCm39) |
|
probably null |
Het |
| Vmn2r69 |
T |
A |
7: 85,060,990 (GRCm39) |
H198L |
possibly damaging |
Het |
| Vmn2r93 |
T |
C |
17: 18,546,032 (GRCm39) |
C635R |
probably damaging |
Het |
|
| Other mutations in Galm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01011:Galm
|
APN |
17 |
80,490,709 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02212:Galm
|
APN |
17 |
80,457,546 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02239:Galm
|
APN |
17 |
80,452,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1442:Galm
|
UTSW |
17 |
80,452,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1511:Galm
|
UTSW |
17 |
80,490,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2129:Galm
|
UTSW |
17 |
80,490,647 (GRCm39) |
missense |
probably benign |
|
|
R2298:Galm
|
UTSW |
17 |
80,489,126 (GRCm39) |
nonsense |
probably null |
|
|
R3724:Galm
|
UTSW |
17 |
80,490,709 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5307:Galm
|
UTSW |
17 |
80,452,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5307:Galm
|
UTSW |
17 |
80,452,416 (GRCm39) |
nonsense |
probably null |
|
|
R5602:Galm
|
UTSW |
17 |
80,457,568 (GRCm39) |
nonsense |
probably null |
|
|
R5778:Galm
|
UTSW |
17 |
80,435,146 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R5873:Galm
|
UTSW |
17 |
80,445,532 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6801:Galm
|
UTSW |
17 |
80,489,053 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7454:Galm
|
UTSW |
17 |
80,445,550 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8304:Galm
|
UTSW |
17 |
80,490,766 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8812:Galm
|
UTSW |
17 |
80,435,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8856:Galm
|
UTSW |
17 |
80,490,661 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9474:Galm
|
UTSW |
17 |
80,457,561 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9562:Galm
|
UTSW |
17 |
80,490,859 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Galm
|
UTSW |
17 |
80,490,662 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
| Posted On |
2014-05-07 |
Incidental Mutation