Incidental Mutation 'R2166:Ugdh'
| ID |
235485 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugdh
|
| Ensembl Gene |
ENSMUSG00000029201 |
| Gene Name |
UDP-glucose dehydrogenase |
| Synonyms |
Udpgdh |
| MMRRC Submission |
040169-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.885)
|
| Stock # |
R2166 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
65570550-65593185 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 65574357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031103]
|
| AlphaFold |
O70475 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031103
|
| SMART Domains |
Protein: ENSMUSP00000031103
Gene: ENSMUSG00000029201
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UDPG_MGDP_dh_N
|
5 |
195 |
1.5e-63 |
PFAM |
|
Pfam:UDPG_MGDP_dh
|
214 |
309 |
1.8e-34 |
PFAM |
|
UDPG_MGDP_dh_C
|
332 |
447 |
1.89e-38 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125375
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139402
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200016
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene converts UDP-glucose to UDP-glucuronate and thereby participates in the biosynthesis of glycosaminoglycans such as hyaluronan, chondroitin sulfate, and heparan sulfate. These glycosylated compounds are common components of the extracellular matrix and likely play roles in signal transduction, cell migration, and cancer growth and metastasis. The expression of this gene is up-regulated by transforming growth factor beta and down-regulated by hypoxia. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: Mutation of this gene results in developmental arrest during gastrulation with defects in endoderm and mesoderm migration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,716,762 (GRCm39) |
F779I |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Birc6 |
A |
T |
17: 74,942,790 (GRCm39) |
T2761S |
probably benign |
Het |
| Cav1 |
A |
T |
6: 17,339,430 (GRCm39) |
I141F |
possibly damaging |
Het |
| Cmklr2 |
A |
G |
1: 63,223,107 (GRCm39) |
F43L |
probably benign |
Het |
| Gm973 |
A |
G |
1: 59,565,898 (GRCm39) |
D39G |
possibly damaging |
Het |
| Gucy1a2 |
T |
A |
9: 3,579,513 (GRCm39) |
|
probably null |
Het |
| Il1b |
A |
T |
2: 129,206,968 (GRCm39) |
M264K |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,365,186 (GRCm39) |
Y38C |
probably damaging |
Het |
| Kcnb2 |
A |
C |
1: 15,781,540 (GRCm39) |
D804A |
possibly damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,781,195 (GRCm39) |
|
probably benign |
Het |
| Krt6b |
T |
C |
15: 101,587,050 (GRCm39) |
|
probably null |
Het |
| Mef2a |
A |
G |
7: 66,915,870 (GRCm39) |
V144A |
probably damaging |
Het |
| Mroh3 |
A |
G |
1: 136,113,791 (GRCm39) |
M666T |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,607,363 (GRCm39) |
Y702F |
probably benign |
Het |
| Napepld |
T |
A |
5: 21,888,230 (GRCm39) |
K73I |
possibly damaging |
Het |
| Or5h23 |
T |
A |
16: 58,905,949 (GRCm39) |
K299I |
probably benign |
Het |
| Or8g21 |
G |
A |
9: 38,906,513 (GRCm39) |
Q73* |
probably null |
Het |
| Pappa |
A |
C |
4: 65,074,682 (GRCm39) |
D412A |
probably damaging |
Het |
| Plbd1 |
A |
G |
6: 136,590,788 (GRCm39) |
|
probably null |
Het |
| Ppp1r10 |
G |
T |
17: 36,241,481 (GRCm39) |
R752L |
unknown |
Het |
| Prep |
T |
C |
10: 44,968,751 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,045,632 (GRCm39) |
N2134S |
possibly damaging |
Het |
| Rhbdl3 |
A |
G |
11: 80,210,523 (GRCm39) |
Y92C |
probably damaging |
Het |
| Rtkn2 |
T |
C |
10: 67,877,526 (GRCm39) |
S532P |
possibly damaging |
Het |
| Rtl1 |
T |
A |
12: 109,556,988 (GRCm39) |
H1617L |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 112,711,649 (GRCm39) |
N956I |
probably benign |
Het |
| Slc13a2 |
A |
G |
11: 78,293,901 (GRCm39) |
V287A |
probably benign |
Het |
| Slc9a2 |
A |
G |
1: 40,781,928 (GRCm39) |
K386E |
probably damaging |
Het |
| Spata20 |
G |
A |
11: 94,369,930 (GRCm39) |
H789Y |
probably benign |
Het |
| Stk19 |
A |
G |
17: 35,051,486 (GRCm39) |
I23T |
possibly damaging |
Het |
| Tonsl |
A |
G |
15: 76,521,513 (GRCm39) |
I293T |
probably benign |
Het |
| Topbp1 |
A |
G |
9: 103,190,128 (GRCm39) |
|
probably null |
Het |
| Trappc2l |
T |
A |
8: 123,339,901 (GRCm39) |
S44T |
probably benign |
Het |
| Tsr1 |
A |
G |
11: 74,798,280 (GRCm39) |
|
probably null |
Het |
| Unc119 |
A |
G |
11: 78,238,161 (GRCm39) |
|
probably null |
Het |
| Zkscan14 |
G |
A |
5: 145,132,944 (GRCm39) |
P196S |
probably benign |
Het |
| Zmat4 |
T |
C |
8: 24,392,152 (GRCm39) |
L36P |
probably damaging |
Het |
|
| Other mutations in Ugdh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01630:Ugdh
|
APN |
5 |
65,574,248 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01734:Ugdh
|
APN |
5 |
65,580,031 (GRCm39) |
missense |
probably benign |
|
|
IGL02157:Ugdh
|
APN |
5 |
65,580,035 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1677:Ugdh
|
UTSW |
5 |
65,580,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Ugdh
|
UTSW |
5 |
65,577,634 (GRCm39) |
nonsense |
probably null |
|
|
R1882:Ugdh
|
UTSW |
5 |
65,580,939 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2020:Ugdh
|
UTSW |
5 |
65,574,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2256:Ugdh
|
UTSW |
5 |
65,574,458 (GRCm39) |
splice site |
probably benign |
|
|
R2257:Ugdh
|
UTSW |
5 |
65,574,458 (GRCm39) |
splice site |
probably benign |
|
|
R2332:Ugdh
|
UTSW |
5 |
65,584,827 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4707:Ugdh
|
UTSW |
5 |
65,580,695 (GRCm39) |
splice site |
probably null |
|
|
R4913:Ugdh
|
UTSW |
5 |
65,580,791 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5590:Ugdh
|
UTSW |
5 |
65,580,217 (GRCm39) |
unclassified |
probably benign |
|
|
R5644:Ugdh
|
UTSW |
5 |
65,574,204 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5741:Ugdh
|
UTSW |
5 |
65,584,866 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6151:Ugdh
|
UTSW |
5 |
65,574,924 (GRCm39) |
nonsense |
probably null |
|
|
R6525:Ugdh
|
UTSW |
5 |
65,574,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6897:Ugdh
|
UTSW |
5 |
65,584,776 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7155:Ugdh
|
UTSW |
5 |
65,574,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7692:Ugdh
|
UTSW |
5 |
65,574,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8178:Ugdh
|
UTSW |
5 |
65,581,005 (GRCm39) |
splice site |
probably null |
|
|
R8485:Ugdh
|
UTSW |
5 |
65,584,902 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9361:Ugdh
|
UTSW |
5 |
65,575,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9565:Ugdh
|
UTSW |
5 |
65,575,876 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9678:Ugdh
|
UTSW |
5 |
65,581,470 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAGCCGGCTTAGAATCCTG -3'
(R):5'- TGTCAGACACTCCTTCTACAGTG -3'
Sequencing Primer
(F):5'- AAGCCAATGGTCTGTAGCTC -3'
(R):5'- TGTTAAAACACGTAACTTCCCG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation