Incidental Mutation 'R6357:Galt'
| ID |
512366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Galt
|
| Ensembl Gene |
ENSMUSG00000036073 |
| Gene Name |
galactose-1-phosphate uridyl transferase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.270)
|
| Stock # |
R6357 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
41755228-41758695 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 41757565 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 246
(P246S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103673
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084695]
[ENSMUST00000098132]
[ENSMUST00000108038]
[ENSMUST00000108040]
[ENSMUST00000108041]
[ENSMUST00000108042]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084695
AA Change: P246S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000081745
Gene: ENSMUSG00000036073
AA Change: P246S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GalP_UDP_transf
|
3 |
177 |
1.8e-68 |
PFAM |
|
Pfam:GalP_UDP_tr_C
|
183 |
351 |
2.1e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098132
|
| SMART Domains |
Protein: ENSMUSP00000095736
Gene: ENSMUSG00000073889
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IG
|
33 |
108 |
5.75e-4 |
SMART |
|
FN3
|
112 |
204 |
2.18e-2 |
SMART |
|
FN3
|
218 |
304 |
4.93e-1 |
SMART |
|
low complexity region
|
354 |
365 |
N/A |
INTRINSIC |
|
transmembrane domain
|
369 |
391 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108038
AA Change: P246S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000103673
Gene: ENSMUSG00000036073
AA Change: P246S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GalP_UDP_transf
|
3 |
177 |
3.1e-69 |
PFAM |
|
Pfam:GalP_UDP_tr_C
|
183 |
351 |
3.8e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108040
|
| SMART Domains |
Protein: ENSMUSP00000103675
Gene: ENSMUSG00000073889
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IG
|
33 |
108 |
5.75e-4 |
SMART |
|
FN3
|
112 |
204 |
2.18e-2 |
SMART |
|
FN3
|
218 |
304 |
4.93e-1 |
SMART |
|
low complexity region
|
354 |
365 |
N/A |
INTRINSIC |
|
transmembrane domain
|
369 |
391 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108041
|
| SMART Domains |
Protein: ENSMUSP00000103676
Gene: ENSMUSG00000073889
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IG
|
33 |
108 |
5.75e-4 |
SMART |
|
FN3
|
112 |
204 |
2.18e-2 |
SMART |
|
FN3
|
218 |
304 |
4.93e-1 |
SMART |
|
low complexity region
|
354 |
365 |
N/A |
INTRINSIC |
|
transmembrane domain
|
369 |
391 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108042
|
| SMART Domains |
Protein: ENSMUSP00000103677
Gene: ENSMUSG00000073889
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IG
|
33 |
108 |
5.75e-4 |
SMART |
|
FN3
|
112 |
204 |
2.18e-2 |
SMART |
|
FN3
|
218 |
304 |
4.93e-1 |
SMART |
|
low complexity region
|
354 |
365 |
N/A |
INTRINSIC |
|
transmembrane domain
|
369 |
391 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123524
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146608
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154275
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145445
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151490
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135734
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147719
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132760
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140894
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130698
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150908
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is the second enzyme in the Leloir pathway, the metabolic pathway for D-galactose catabolism. It catalyzes the conversion of galactose-1-phosphate and uridine diphosphate-glucose to glucose-1-phosphate and uridine diphosphate galactose. Deficiency of this enzyme causes the genetic metabolic disorder galactosemia. Mice lacking this protein accumulate high levels of galactose and galactose-1 phosphate but are viable and fertile. This protein is negatively regulated through signaling by the polypeptide hormone prolactin, specifically via the short isoform of the prolactin receptor and the transcription factor Forkhead box O3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit abnormal galactose metabolism, but lack symptoms of acute toxicity seen in humans with galactosemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
T |
C |
17: 57,184,591 (GRCm39) |
|
probably null |
Het |
| Aoc1l2 |
A |
G |
6: 48,907,908 (GRCm39) |
M303V |
probably benign |
Het |
| Armh4 |
A |
T |
14: 50,010,769 (GRCm39) |
S313T |
probably benign |
Het |
| Calcr |
T |
C |
6: 3,714,710 (GRCm39) |
D140G |
probably benign |
Het |
| Card10 |
T |
C |
15: 78,683,579 (GRCm39) |
E188G |
probably damaging |
Het |
| Cenpq |
T |
C |
17: 41,235,418 (GRCm39) |
E193G |
probably damaging |
Het |
| Cep164 |
G |
A |
9: 45,682,182 (GRCm39) |
L1874F |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,428,321 (GRCm39) |
M889T |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,765,022 (GRCm39) |
K3841E |
probably damaging |
Het |
| Dynlt2b |
T |
G |
16: 32,247,873 (GRCm39) |
|
probably null |
Het |
| Eci2 |
A |
G |
13: 35,177,082 (GRCm39) |
V26A |
possibly damaging |
Het |
| Eftud2 |
A |
T |
11: 102,755,606 (GRCm39) |
N200K |
probably damaging |
Het |
| Eml5 |
T |
A |
12: 98,837,143 (GRCm39) |
H357L |
probably damaging |
Het |
| Esam |
T |
C |
9: 37,449,076 (GRCm39) |
*395R |
probably null |
Het |
| Gjb3 |
A |
T |
4: 127,220,423 (GRCm39) |
Y36* |
probably null |
Het |
| Gli2 |
T |
C |
1: 118,769,689 (GRCm39) |
E621G |
probably damaging |
Het |
| Gls |
T |
C |
1: 52,258,665 (GRCm39) |
D201G |
probably damaging |
Het |
| Gm10801 |
C |
CGTCA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Gm1110 |
T |
C |
9: 26,825,424 (GRCm39) |
|
probably null |
Het |
| Gm5565 |
T |
A |
5: 146,097,283 (GRCm39) |
H13L |
possibly damaging |
Het |
| Hydin |
A |
C |
8: 111,268,289 (GRCm39) |
T2923P |
possibly damaging |
Het |
| Kank1 |
A |
T |
19: 25,388,717 (GRCm39) |
I797L |
probably benign |
Het |
| Klhdc8a |
A |
T |
1: 132,230,891 (GRCm39) |
Q252L |
probably damaging |
Het |
| Kmt5c |
T |
C |
7: 4,745,204 (GRCm39) |
F65S |
possibly damaging |
Het |
| Lix1 |
C |
T |
17: 17,666,255 (GRCm39) |
P138L |
probably benign |
Het |
| Lnpep |
T |
C |
17: 17,773,176 (GRCm39) |
N664S |
probably benign |
Het |
| Msh6 |
T |
A |
17: 88,291,888 (GRCm39) |
Y214* |
probably null |
Het |
| Nefl |
A |
G |
14: 68,321,767 (GRCm39) |
E119G |
probably damaging |
Het |
| Nptxr |
C |
A |
15: 79,678,516 (GRCm39) |
R257L |
possibly damaging |
Het |
| Or4k15c |
C |
A |
14: 50,321,446 (GRCm39) |
A231S |
probably damaging |
Het |
| Or7e173 |
T |
A |
9: 19,938,925 (GRCm39) |
Q103L |
probably damaging |
Het |
| Oxct2b |
A |
G |
4: 123,010,709 (GRCm39) |
I210V |
probably benign |
Het |
| Plppr3 |
T |
A |
10: 79,701,240 (GRCm39) |
Q534L |
probably benign |
Het |
| Psma1 |
T |
C |
7: 113,873,602 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
G |
A |
14: 33,678,991 (GRCm39) |
A980T |
probably damaging |
Het |
| Ripply2 |
T |
A |
9: 86,898,331 (GRCm39) |
S58R |
possibly damaging |
Het |
| Robo1 |
T |
C |
16: 72,767,190 (GRCm39) |
V454A |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,446,273 (GRCm39) |
D2773G |
possibly damaging |
Het |
| Sirpb1b |
A |
T |
3: 15,568,243 (GRCm39) |
V366E |
possibly damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,594,389 (GRCm39) |
I197M |
probably benign |
Het |
| Spata31f1a |
T |
A |
4: 42,850,393 (GRCm39) |
I588F |
probably damaging |
Het |
| Spmap2 |
T |
C |
10: 79,422,789 (GRCm39) |
S38G |
probably benign |
Het |
| Srgap2 |
T |
C |
1: 131,283,280 (GRCm39) |
Y267C |
probably damaging |
Het |
| Ssc4d |
T |
C |
5: 135,994,950 (GRCm39) |
T189A |
probably benign |
Het |
| Tas2r106 |
A |
G |
6: 131,654,925 (GRCm39) |
*309Q |
probably null |
Het |
| Vmn2r44 |
T |
C |
7: 8,373,657 (GRCm39) |
M511V |
probably benign |
Het |
| Wdfy4 |
G |
T |
14: 32,823,006 (GRCm39) |
Y1364* |
probably null |
Het |
| Zbtb8a |
T |
C |
4: 129,248,092 (GRCm39) |
H393R |
probably benign |
Het |
|
| Other mutations in Galt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00820:Galt
|
APN |
4 |
41,758,570 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01150:Galt
|
APN |
4 |
41,757,786 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01525:Galt
|
APN |
4 |
41,756,068 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01720:Galt
|
APN |
4 |
41,757,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02247:Galt
|
APN |
4 |
41,755,623 (GRCm39) |
intron |
probably benign |
|
|
IGL02576:Galt
|
APN |
4 |
41,755,953 (GRCm39) |
intron |
probably benign |
|
|
PIT4802001:Galt
|
UTSW |
4 |
41,756,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1726:Galt
|
UTSW |
4 |
41,756,001 (GRCm39) |
nonsense |
probably null |
|
|
R2085:Galt
|
UTSW |
4 |
41,758,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2112:Galt
|
UTSW |
4 |
41,758,245 (GRCm39) |
missense |
probably benign |
|
|
R4783:Galt
|
UTSW |
4 |
41,758,189 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6031:Galt
|
UTSW |
4 |
41,757,202 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6031:Galt
|
UTSW |
4 |
41,757,202 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6171:Galt
|
UTSW |
4 |
41,757,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7233:Galt
|
UTSW |
4 |
41,758,267 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7410:Galt
|
UTSW |
4 |
41,757,707 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8157:Galt
|
UTSW |
4 |
41,757,226 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9090:Galt
|
UTSW |
4 |
41,756,777 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9271:Galt
|
UTSW |
4 |
41,756,777 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9473:Galt
|
UTSW |
4 |
41,757,575 (GRCm39) |
missense |
probably benign |
|
|
R9745:Galt
|
UTSW |
4 |
41,758,185 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATAGGACATTAGCAGCCAC -3'
(R):5'- TGTCGTACTTGGTCAAGAGC -3'
Sequencing Primer
(F):5'- CCACCTAAAGGAATATTATGGTGGC -3'
(R):5'- CAAGAGCTTCTTCATGATGGAGGC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation