Incidental Mutation 'R2298:Galm'
| ID |
245244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galm
|
| Ensembl Gene |
ENSMUSG00000035473 |
| Gene Name |
galactose mutarotase |
| Synonyms |
aldose 1-epimerase, A530057M15Rik |
| MMRRC Submission |
040297-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R2298 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
80434886-80492461 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 80489126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 84
(C84*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039205]
|
| AlphaFold |
Q8K157 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000039205
AA Change: C257*
|
| SMART Domains |
Protein: ENSMUSP00000040580
Gene: ENSMUSG00000035473
AA Change: C257*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldose_epim
|
20 |
338 |
7.1e-102 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000133955
AA Change: C84*
|
| SMART Domains |
Protein: ENSMUSP00000120018
Gene: ENSMUSG00000035473
AA Change: C84*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldose_epim
|
1 |
159 |
6.1e-41 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,209,247 (GRCm39) |
D459G |
probably benign |
Het |
| Abhd12 |
C |
A |
2: 150,743,414 (GRCm39) |
|
probably benign |
Het |
| Atcay |
A |
T |
10: 81,046,397 (GRCm39) |
I309N |
probably damaging |
Het |
| Capn8 |
T |
C |
1: 182,440,985 (GRCm39) |
V473A |
probably benign |
Het |
| Cramp1 |
T |
C |
17: 25,216,454 (GRCm39) |
I220V |
probably damaging |
Het |
| Creb3l1 |
G |
A |
2: 91,822,321 (GRCm39) |
P222S |
probably damaging |
Het |
| Crocc |
G |
A |
4: 140,752,770 (GRCm39) |
A1374V |
probably benign |
Het |
| Crybg1 |
A |
G |
10: 43,875,218 (GRCm39) |
L630S |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Erbb4 |
C |
T |
1: 68,081,690 (GRCm39) |
D1115N |
probably damaging |
Het |
| Fasn |
T |
A |
11: 120,704,642 (GRCm39) |
L1314F |
possibly damaging |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Klf13 |
T |
C |
7: 63,541,504 (GRCm39) |
K208E |
probably damaging |
Het |
| Kremen1 |
AGGCGG |
AGGCGGCGG |
11: 5,151,788 (GRCm39) |
|
probably benign |
Het |
| Lgmn |
A |
G |
12: 102,361,937 (GRCm39) |
F388S |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msh2 |
T |
A |
17: 88,015,930 (GRCm39) |
Y521N |
probably damaging |
Het |
| Myo5b |
G |
T |
18: 74,758,676 (GRCm39) |
R219L |
probably damaging |
Het |
| Myzap |
A |
T |
9: 71,456,039 (GRCm39) |
M327K |
probably damaging |
Het |
| Ngfr |
AAGCAGCAGCAGCAGCAGCAGCAG |
AAGCAGCAGCAGCAGCAGCAG |
11: 95,478,316 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
T |
C |
17: 33,285,752 (GRCm39) |
E350G |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,517,713 (GRCm39) |
F796S |
probably damaging |
Het |
| Srl |
T |
C |
16: 4,300,762 (GRCm39) |
I332V |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,790,338 (GRCm39) |
|
probably null |
Het |
| Tenm2 |
T |
C |
11: 35,937,604 (GRCm39) |
T1690A |
possibly damaging |
Het |
| Traf4 |
T |
A |
11: 78,051,677 (GRCm39) |
D241V |
probably benign |
Het |
| Trpv6 |
A |
G |
6: 41,613,010 (GRCm39) |
I52T |
possibly damaging |
Het |
| Zfp768 |
T |
A |
7: 126,943,361 (GRCm39) |
M256L |
probably benign |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGACAGCGTATCCAAAGCG -3'
(R):5'- AAAAGCCAGGGAGCATTCTG -3'
Sequencing Primer
(F):5'- CAAAGCGTTGGTCTTGGTTGTAAC -3'
(R):5'- AGCATTCTGGGTAAGGTGAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation