Incidental Mutation 'IGL02330:Uap1'
| ID |
288630 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Uap1
|
| Ensembl Gene |
ENSMUSG00000026670 |
| Gene Name |
UDP-N-acetylglucosamine pyrophosphorylase 1 |
| Synonyms |
ESTM38, AGX1, AgX, SPAG2 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.768)
|
| Stock # |
IGL02330
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
169969507-170002526 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 169977896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 385
(I385N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106982
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027981]
[ENSMUST00000111350]
[ENSMUST00000111351]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027981
AA Change: I385N
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027981
Gene: ENSMUSG00000026670
AA Change: I385N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UDPGP
|
44 |
471 |
2e-128 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111350
AA Change: I385N
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106982
Gene: ENSMUSG00000026670
AA Change: I385N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UDPGP
|
44 |
467 |
5.3e-124 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111351
AA Change: I385N
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106983
Gene: ENSMUSG00000026670
AA Change: I385N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UDPGP
|
45 |
472 |
4.6e-90 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162253
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
A |
T |
8: 56,325,398 (GRCm39) |
I352K |
probably benign |
Het |
| Atp8a1 |
T |
C |
5: 67,970,520 (GRCm39) |
N73S |
probably damaging |
Het |
| Cilp |
T |
C |
9: 65,181,804 (GRCm39) |
|
probably benign |
Het |
| Csf2rb2 |
C |
T |
15: 78,169,328 (GRCm39) |
G500D |
possibly damaging |
Het |
| Cyp4a14 |
A |
C |
4: 115,352,224 (GRCm39) |
|
probably benign |
Het |
| Dagla |
T |
G |
19: 10,225,386 (GRCm39) |
D926A |
probably damaging |
Het |
| Ddr2 |
T |
A |
1: 169,816,093 (GRCm39) |
Y538F |
probably damaging |
Het |
| Eng |
T |
A |
2: 32,559,581 (GRCm39) |
|
probably null |
Het |
| Fbxo24 |
G |
T |
5: 137,619,579 (GRCm39) |
L99M |
probably damaging |
Het |
| Fmn2 |
A |
G |
1: 174,437,511 (GRCm39) |
S1161G |
probably benign |
Het |
| Foxp1 |
T |
C |
6: 98,922,373 (GRCm39) |
N453D |
probably damaging |
Het |
| Fut8 |
A |
G |
12: 77,497,017 (GRCm39) |
D409G |
probably damaging |
Het |
| Hmces |
A |
G |
6: 87,891,517 (GRCm39) |
H8R |
probably damaging |
Het |
| Ing3 |
T |
C |
6: 21,952,120 (GRCm39) |
C44R |
probably benign |
Het |
| Itga1 |
T |
A |
13: 115,148,740 (GRCm39) |
I294F |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,910,693 (GRCm39) |
S976T |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,367,987 (GRCm39) |
Y249C |
possibly damaging |
Het |
| Nop56 |
T |
C |
2: 130,118,686 (GRCm39) |
S273P |
probably damaging |
Het |
| Or10a48 |
A |
T |
7: 108,425,206 (GRCm39) |
|
probably benign |
Het |
| Or1j21 |
C |
T |
2: 36,683,907 (GRCm39) |
H220Y |
probably benign |
Het |
| Otog |
C |
T |
7: 45,937,493 (GRCm39) |
S1734F |
possibly damaging |
Het |
| Phc3 |
T |
G |
3: 30,990,530 (GRCm39) |
E562D |
probably damaging |
Het |
| Ralb |
A |
T |
1: 119,399,450 (GRCm39) |
C203S |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Sf3b4 |
A |
T |
3: 96,080,376 (GRCm39) |
T42S |
possibly damaging |
Het |
| Sgsm2 |
T |
C |
11: 74,749,493 (GRCm39) |
T584A |
probably benign |
Het |
| Slco5a1 |
T |
C |
1: 13,009,284 (GRCm39) |
K397R |
probably damaging |
Het |
| Trim30c |
A |
G |
7: 104,032,165 (GRCm39) |
Y299H |
possibly damaging |
Het |
| Trip6 |
T |
C |
5: 137,311,620 (GRCm39) |
D119G |
probably benign |
Het |
| Vmn1r123 |
T |
A |
7: 20,896,969 (GRCm39) |
I287N |
probably damaging |
Het |
| Vwce |
T |
C |
19: 10,624,165 (GRCm39) |
L352P |
possibly damaging |
Het |
| Xrn1 |
T |
A |
9: 95,855,401 (GRCm39) |
Y260* |
probably null |
Het |
| Zfp738 |
T |
C |
13: 67,819,550 (GRCm39) |
Y147C |
probably damaging |
Het |
|
| Other mutations in Uap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02170:Uap1
|
APN |
1 |
169,994,281 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL03383:Uap1
|
APN |
1 |
169,986,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0382:Uap1
|
UTSW |
1 |
169,989,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0696:Uap1
|
UTSW |
1 |
169,976,843 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1055:Uap1
|
UTSW |
1 |
169,984,480 (GRCm39) |
splice site |
probably benign |
|
|
R1463:Uap1
|
UTSW |
1 |
169,977,952 (GRCm39) |
missense |
probably benign |
|
|
R1522:Uap1
|
UTSW |
1 |
169,978,510 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2257:Uap1
|
UTSW |
1 |
169,986,312 (GRCm39) |
splice site |
probably benign |
|
|
R4061:Uap1
|
UTSW |
1 |
169,986,415 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4533:Uap1
|
UTSW |
1 |
169,970,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Uap1
|
UTSW |
1 |
169,989,032 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5341:Uap1
|
UTSW |
1 |
169,971,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5712:Uap1
|
UTSW |
1 |
169,994,414 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5772:Uap1
|
UTSW |
1 |
169,988,949 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5869:Uap1
|
UTSW |
1 |
169,978,707 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6229:Uap1
|
UTSW |
1 |
169,994,302 (GRCm39) |
missense |
probably benign |
|
|
R7216:Uap1
|
UTSW |
1 |
169,986,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8079:Uap1
|
UTSW |
1 |
169,986,332 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8323:Uap1
|
UTSW |
1 |
169,978,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8854:Uap1
|
UTSW |
1 |
169,976,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9035:Uap1
|
UTSW |
1 |
169,977,013 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation