Incidental Mutation 'IGL01521:Tgds'
| ID |
90528 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tgds
|
| Ensembl Gene |
ENSMUSG00000022130 |
| Gene Name |
TDP-glucose 4,6-dehydratase |
| Synonyms |
2610017J16Rik, 2610025M23Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.574)
|
| Stock # |
IGL01521
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
118349323-118370167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 118350506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 349
(P349Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022727
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022727]
[ENSMUST00000227350]
[ENSMUST00000228543]
|
| AlphaFold |
Q8VDR7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022727
AA Change: P349Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022727
Gene: ENSMUSG00000022130
AA Change: P349Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RmlD_sub_bind
|
18 |
333 |
2.9e-27 |
PFAM |
|
Pfam:Epimerase
|
20 |
258 |
3.2e-61 |
PFAM |
|
Pfam:Polysacc_synt_2
|
20 |
300 |
2.6e-27 |
PFAM |
|
Pfam:3Beta_HSD
|
21 |
248 |
3.2e-29 |
PFAM |
|
Pfam:GDP_Man_Dehyd
|
21 |
327 |
2.3e-77 |
PFAM |
|
Pfam:NAD_binding_4
|
22 |
230 |
9e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180772
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227350
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228543
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the short-chain dehydrogenases/reductases (SDR) superfamily, and is thought to contain a nicotinamide adenine dinucleotide (NAD) binding domain. This large SDR family of enzymes is involved in the metabolism of a variety of compounds, including prostaglandins, retinoids, lipids, steroid hormones, and xenobiotics. Mutations in this gene have been associated with Catel-Manzke syndrome, which is characterized by Pierre Robin sequence, and radial deviation of the index finger due to the presence of an accessory bone between the index finger and its proximal phalanx. Pierre Robin sequence is defined by an undersized jaw, backwards displacement of the tongue base that causes an obstruction of the airways, and can also be associated with a cleft palate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
T |
8: 111,770,419 (GRCm39) |
I406F |
possibly damaging |
Het |
| Adgrb2 |
A |
G |
4: 129,886,085 (GRCm39) |
E75G |
probably damaging |
Het |
| Angptl2 |
T |
C |
2: 33,136,215 (GRCm39) |
Y467H |
probably damaging |
Het |
| Arap1 |
G |
T |
7: 101,049,812 (GRCm39) |
|
probably null |
Het |
| Arfgap1 |
G |
A |
2: 180,613,371 (GRCm39) |
C22Y |
probably damaging |
Het |
| Artn |
G |
A |
4: 117,784,484 (GRCm39) |
P25S |
probably damaging |
Het |
| Bicra |
G |
T |
7: 15,723,113 (GRCm39) |
Q135K |
probably benign |
Het |
| Clpx |
T |
C |
9: 65,226,026 (GRCm39) |
V367A |
probably damaging |
Het |
| Clstn3 |
C |
T |
6: 124,434,990 (GRCm39) |
W308* |
probably null |
Het |
| Cpb2 |
T |
A |
14: 75,495,071 (GRCm39) |
V67D |
probably damaging |
Het |
| Cyp2c38 |
A |
G |
19: 39,449,114 (GRCm39) |
Y80H |
probably damaging |
Het |
| Dbt |
A |
G |
3: 116,327,032 (GRCm39) |
D127G |
probably benign |
Het |
| Elp1 |
T |
A |
4: 56,771,059 (GRCm39) |
E961D |
probably benign |
Het |
| Fhod1 |
G |
A |
8: 106,057,055 (GRCm39) |
A973V |
probably benign |
Het |
| Flacc1 |
T |
G |
1: 58,709,553 (GRCm39) |
K201Q |
probably damaging |
Het |
| Focad |
A |
T |
4: 88,328,927 (GRCm39) |
*1713C |
probably null |
Het |
| Gemin5 |
A |
T |
11: 58,025,744 (GRCm39) |
|
probably benign |
Het |
| Gpr22 |
C |
T |
12: 31,758,709 (GRCm39) |
|
probably benign |
Het |
| Kif23 |
T |
A |
9: 61,827,182 (GRCm39) |
T890S |
probably damaging |
Het |
| Kmt5b |
T |
A |
19: 3,836,618 (GRCm39) |
S52T |
possibly damaging |
Het |
| Lipo3 |
A |
T |
19: 33,763,083 (GRCm39) |
D53E |
probably damaging |
Het |
| Lrrc14b |
G |
A |
13: 74,511,691 (GRCm39) |
R130C |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,467,704 (GRCm39) |
I1046K |
probably damaging |
Het |
| Napsa |
A |
T |
7: 44,236,061 (GRCm39) |
I367F |
probably damaging |
Het |
| Or5aq1b |
C |
T |
2: 86,902,077 (GRCm39) |
V134I |
probably benign |
Het |
| Or8b56 |
A |
T |
9: 38,739,185 (GRCm39) |
Y66F |
probably damaging |
Het |
| Rgcc |
T |
G |
14: 79,538,185 (GRCm39) |
S69R |
probably damaging |
Het |
| Rin3 |
T |
A |
12: 102,335,307 (GRCm39) |
I326N |
probably benign |
Het |
| Sipa1 |
C |
A |
19: 5,711,006 (GRCm39) |
M1I |
probably null |
Het |
| Sirpb1a |
T |
A |
3: 15,475,561 (GRCm39) |
M325L |
probably benign |
Het |
| Sult1a1 |
C |
A |
7: 126,274,451 (GRCm39) |
V71F |
possibly damaging |
Het |
| Tmem63c |
T |
A |
12: 87,115,918 (GRCm39) |
H186Q |
probably damaging |
Het |
| Trappc9 |
A |
G |
15: 72,924,016 (GRCm39) |
L242S |
probably damaging |
Het |
| Trip12 |
T |
A |
1: 84,743,919 (GRCm39) |
|
probably benign |
Het |
| Zfp451 |
T |
C |
1: 33,816,412 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Tgds |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01473:Tgds
|
APN |
14 |
118,365,626 (GRCm39) |
splice site |
probably benign |
|
|
IGL01928:Tgds
|
APN |
14 |
118,353,541 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02134:Tgds
|
APN |
14 |
118,350,534 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03353:Tgds
|
APN |
14 |
118,364,919 (GRCm39) |
nonsense |
probably null |
|
|
R0079:Tgds
|
UTSW |
14 |
118,353,647 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2005:Tgds
|
UTSW |
14 |
118,368,068 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2104:Tgds
|
UTSW |
14 |
118,359,149 (GRCm39) |
nonsense |
probably null |
|
|
R4676:Tgds
|
UTSW |
14 |
118,353,643 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4801:Tgds
|
UTSW |
14 |
118,354,445 (GRCm39) |
intron |
probably benign |
|
|
R4992:Tgds
|
UTSW |
14 |
118,355,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5051:Tgds
|
UTSW |
14 |
118,365,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5083:Tgds
|
UTSW |
14 |
118,353,491 (GRCm39) |
splice site |
probably null |
|
|
R5802:Tgds
|
UTSW |
14 |
118,370,119 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9478:Tgds
|
UTSW |
14 |
118,352,544 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9786:Tgds
|
UTSW |
14 |
118,368,049 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation