Incidental Mutation 'IGL02239:Galm'
| ID |
286012 |
| 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 # |
IGL02239
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
80434886-80492461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80452467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 135
(D135G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039205]
|
| AlphaFold |
Q8K157 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039205
AA Change: D135G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040580
Gene: ENSMUSG00000035473
AA Change: D135G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldose_epim
|
20 |
338 |
7.1e-102 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133955
|
| SMART Domains |
Protein: ENSMUSP00000120018
Gene: ENSMUSG00000035473
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
A |
G |
16: 20,369,386 (GRCm39) |
E262G |
possibly damaging |
Het |
| Adgra3 |
T |
A |
5: 50,118,054 (GRCm39) |
S1165C |
probably damaging |
Het |
| Akap11 |
A |
G |
14: 78,751,289 (GRCm39) |
L366P |
probably damaging |
Het |
| Astn1 |
T |
C |
1: 158,491,700 (GRCm39) |
|
probably null |
Het |
| Bhmt2 |
C |
T |
13: 93,799,687 (GRCm39) |
G250R |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cntnap2 |
A |
G |
6: 46,998,588 (GRCm39) |
D880G |
probably damaging |
Het |
| Erc1 |
A |
G |
6: 119,750,852 (GRCm39) |
V443A |
probably damaging |
Het |
| Fbxw15 |
A |
G |
9: 109,388,905 (GRCm39) |
I168T |
probably benign |
Het |
| Fgfr2 |
C |
T |
7: 129,779,416 (GRCm39) |
A504T |
probably damaging |
Het |
| Gstp3 |
C |
T |
19: 4,107,899 (GRCm39) |
V145I |
possibly damaging |
Het |
| Hspa5 |
T |
C |
2: 34,662,788 (GRCm39) |
F115L |
probably benign |
Het |
| Lig4 |
A |
C |
8: 10,022,473 (GRCm39) |
S436A |
probably damaging |
Het |
| Ncam1 |
A |
G |
9: 49,478,702 (GRCm39) |
V99A |
probably damaging |
Het |
| Nell1 |
T |
A |
7: 49,899,398 (GRCm39) |
I336N |
probably benign |
Het |
| Or52ad1 |
T |
C |
7: 102,995,805 (GRCm39) |
Y110C |
probably damaging |
Het |
| Or5p55 |
T |
C |
7: 107,567,254 (GRCm39) |
S217P |
probably damaging |
Het |
| Or8g20 |
T |
A |
9: 39,395,857 (GRCm39) |
I231F |
probably damaging |
Het |
| Patl1 |
A |
T |
19: 11,914,723 (GRCm39) |
K625* |
probably null |
Het |
| Qrsl1 |
G |
A |
10: 43,770,596 (GRCm39) |
P99S |
possibly damaging |
Het |
| Rfx8 |
T |
C |
1: 39,720,046 (GRCm39) |
D343G |
probably benign |
Het |
| Scart2 |
T |
C |
7: 139,875,756 (GRCm39) |
F340S |
probably damaging |
Het |
| Serpinb3a |
T |
A |
1: 106,979,418 (GRCm39) |
Y28F |
probably benign |
Het |
| Slc6a4 |
A |
T |
11: 76,917,982 (GRCm39) |
I575F |
probably benign |
Het |
| Tbx5 |
T |
A |
5: 120,009,345 (GRCm39) |
S285T |
possibly damaging |
Het |
| Tmem229a |
A |
T |
6: 24,955,539 (GRCm39) |
S72T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,576,748 (GRCm39) |
D24715G |
probably damaging |
Het |
| Zfp784 |
T |
C |
7: 5,038,670 (GRCm39) |
|
probably benign |
Het |
| Zswim2 |
T |
A |
2: 83,769,107 (GRCm39) |
K85* |
probably null |
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 |
|
IGL02057:Galm
|
APN |
17 |
80,488,996 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02212:Galm
|
APN |
17 |
80,457,546 (GRCm39) |
missense |
probably benign |
0.09 |
|
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 |
2015-04-16 |
Incidental Mutation