Incidental Mutation 'R4582:Ugt1a10'
| ID |
343716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt1a10
|
| Ensembl Gene |
ENSMUSG00000090165 |
| Gene Name |
UDP glycosyltransferase 1 family, polypeptide A10 |
| Synonyms |
A13 |
| MMRRC Submission |
041803-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R4582 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
88055388-88219004 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88055741 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 87
(D87V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113142]
[ENSMUST00000138182]
[ENSMUST00000173325]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113142
AA Change: D87V
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165
AA Change: D87V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
26 |
521 |
7.3e-231 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
360 |
449 |
1.3e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138182
|
| SMART Domains |
Protein: ENSMUSP00000119985
Gene: ENSMUSG00000090165
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
26 |
62 |
7e-11 |
PFAM |
|
Pfam:UDPGT
|
58 |
207 |
1.9e-90 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
137 |
207 |
4.8e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173165
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173325
|
| SMART Domains |
Protein: ENSMUSP00000134443
Gene: ENSMUSG00000090165
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
26 |
61 |
3.4e-10 |
PFAM |
|
Pfam:UDPGT
|
59 |
210 |
8.9e-92 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abra |
A |
T |
15: 41,869,285 (GRCm38) |
D128E |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,511,929 (GRCm38) |
V1006E |
possibly damaging |
Het |
| Ankrd7 |
T |
A |
6: 18,868,021 (GRCm38) |
N95K |
probably damaging |
Het |
| Brd9 |
T |
C |
13: 73,947,733 (GRCm38) |
F366L |
probably benign |
Het |
| Brinp2 |
A |
G |
1: 158,267,938 (GRCm38) |
F118L |
probably damaging |
Het |
| Ccdc138 |
T |
C |
10: 58,507,643 (GRCm38) |
|
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,845,723 (GRCm38) |
F189L |
probably damaging |
Het |
| Cfap45 |
A |
G |
1: 172,529,912 (GRCm38) |
T36A |
probably benign |
Het |
| Clec4a1 |
G |
T |
6: 122,932,191 (GRCm38) |
V173L |
possibly damaging |
Het |
| Col6a5 |
G |
A |
9: 105,862,764 (GRCm38) |
T2552I |
probably benign |
Het |
| Dcaf15 |
A |
G |
8: 84,097,969 (GRCm38) |
V533A |
probably damaging |
Het |
| Dhrs9 |
A |
T |
2: 69,397,653 (GRCm38) |
I204F |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 99,003,916 (GRCm38) |
V811A |
possibly damaging |
Het |
| Eef1akmt1 |
T |
C |
14: 57,550,448 (GRCm38) |
D151G |
probably damaging |
Het |
| Eif4g3 |
G |
A |
4: 138,171,245 (GRCm38) |
R1109H |
probably damaging |
Het |
| Gtpbp10 |
T |
C |
5: 5,542,395 (GRCm38) |
T191A |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,286,419 (GRCm38) |
N714S |
possibly damaging |
Het |
| Lima1 |
T |
C |
15: 99,780,992 (GRCm38) |
T523A |
possibly damaging |
Het |
| Lipe |
A |
G |
7: 25,397,702 (GRCm38) |
L272P |
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,850,706 (GRCm38) |
E554G |
possibly damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,608,237 (GRCm38) |
S488G |
possibly damaging |
Het |
| Man2a1 |
C |
T |
17: 64,752,499 (GRCm38) |
A1127V |
probably benign |
Het |
| Naglu |
A |
T |
11: 101,071,929 (GRCm38) |
I187F |
probably damaging |
Het |
| Nt5c1b |
T |
A |
12: 10,390,054 (GRCm38) |
M548K |
probably damaging |
Het |
| Or10ak14 |
A |
T |
4: 118,753,893 (GRCm38) |
I217N |
probably damaging |
Het |
| Or6c38 |
A |
T |
10: 129,093,158 (GRCm38) |
V272E |
possibly damaging |
Het |
| Pcdha3 |
T |
C |
18: 36,947,432 (GRCm38) |
V409A |
probably benign |
Het |
| Pde6b |
A |
T |
5: 108,425,231 (GRCm38) |
|
probably null |
Het |
| Pkd2 |
A |
T |
5: 104,502,344 (GRCm38) |
K857* |
probably null |
Het |
| Rfx4 |
T |
A |
10: 84,844,300 (GRCm38) |
S114T |
possibly damaging |
Het |
| Sacs |
G |
A |
14: 61,191,698 (GRCm38) |
G402D |
probably damaging |
Het |
| Slc22a5 |
C |
T |
11: 53,891,209 (GRCm38) |
E111K |
probably damaging |
Het |
| Sptbn1 |
G |
A |
11: 30,219,597 (GRCm38) |
R44C |
probably damaging |
Het |
| Taf1 |
T |
C |
X: 101,593,995 (GRCm38) |
V1696A |
possibly damaging |
Het |
| Tm9sf3 |
C |
A |
19: 41,256,166 (GRCm38) |
G91C |
probably damaging |
Het |
| Tmie |
T |
G |
9: 110,873,797 (GRCm38) |
E32A |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Tsga13 |
A |
T |
6: 30,902,363 (GRCm38) |
N138K |
probably benign |
Het |
| Ttc7b |
G |
A |
12: 100,500,117 (GRCm38) |
R79C |
probably damaging |
Het |
| Vdac3-ps1 |
A |
T |
13: 18,031,592 (GRCm38) |
|
noncoding transcript |
Het |
| Vmn1r29 |
A |
C |
6: 58,308,032 (GRCm38) |
I246L |
probably damaging |
Het |
| Zbtb16 |
A |
G |
9: 48,832,082 (GRCm38) |
V310A |
probably benign |
Het |
|
| Other mutations in Ugt1a10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01126:Ugt1a10
|
APN |
1 |
88,055,987 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
IGL02219:Ugt1a10
|
APN |
1 |
88,056,058 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02511:Ugt1a10
|
APN |
1 |
88,055,863 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02990:Ugt1a10
|
APN |
1 |
88,055,879 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4142001:Ugt1a10
|
UTSW |
1 |
88,216,158 (GRCm38) |
small deletion |
probably benign |
|
|
R0201:Ugt1a10
|
UTSW |
1 |
88,218,249 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0201:Ugt1a10
|
UTSW |
1 |
88,215,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0522:Ugt1a10
|
UTSW |
1 |
88,218,249 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0525:Ugt1a10
|
UTSW |
1 |
88,218,249 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0554:Ugt1a10
|
UTSW |
1 |
88,056,095 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0748:Ugt1a10
|
UTSW |
1 |
88,215,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0811:Ugt1a10
|
UTSW |
1 |
88,056,182 (GRCm38) |
missense |
probably benign |
0.33 |
|
R0812:Ugt1a10
|
UTSW |
1 |
88,056,182 (GRCm38) |
missense |
probably benign |
0.33 |
|
R1129:Ugt1a10
|
UTSW |
1 |
88,055,609 (GRCm38) |
missense |
probably benign |
|
|
R1207:Ugt1a10
|
UTSW |
1 |
88,216,254 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1432:Ugt1a10
|
UTSW |
1 |
88,216,260 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1457:Ugt1a10
|
UTSW |
1 |
88,055,711 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1469:Ugt1a10
|
UTSW |
1 |
88,216,254 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1972:Ugt1a10
|
UTSW |
1 |
88,056,047 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1973:Ugt1a10
|
UTSW |
1 |
88,056,047 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2039:Ugt1a10
|
UTSW |
1 |
88,055,981 (GRCm38) |
missense |
probably benign |
0.32 |
|
R2307:Ugt1a10
|
UTSW |
1 |
88,055,947 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3952:Ugt1a10
|
UTSW |
1 |
88,216,140 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3973:Ugt1a10
|
UTSW |
1 |
88,216,140 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4232:Ugt1a10
|
UTSW |
1 |
88,056,210 (GRCm38) |
missense |
probably benign |
0.39 |
|
R4392:Ugt1a10
|
UTSW |
1 |
88,215,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4393:Ugt1a10
|
UTSW |
1 |
88,215,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4402:Ugt1a10
|
UTSW |
1 |
88,215,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4417:Ugt1a10
|
UTSW |
1 |
88,055,995 (GRCm38) |
missense |
probably benign |
|
|
R4474:Ugt1a10
|
UTSW |
1 |
88,215,928 (GRCm38) |
intron |
probably benign |
|
|
R4476:Ugt1a10
|
UTSW |
1 |
88,215,928 (GRCm38) |
intron |
probably benign |
|
|
R4515:Ugt1a10
|
UTSW |
1 |
88,056,197 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4579:Ugt1a10
|
UTSW |
1 |
88,056,116 (GRCm38) |
missense |
probably benign |
|
|
R4609:Ugt1a10
|
UTSW |
1 |
88,055,482 (GRCm38) |
start codon destroyed |
possibly damaging |
0.92 |
|
R4627:Ugt1a10
|
UTSW |
1 |
88,218,390 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4790:Ugt1a10
|
UTSW |
1 |
88,056,287 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4799:Ugt1a10
|
UTSW |
1 |
88,215,928 (GRCm38) |
intron |
probably benign |
|
|
R4910:Ugt1a10
|
UTSW |
1 |
88,215,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4915:Ugt1a10
|
UTSW |
1 |
88,055,924 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5110:Ugt1a10
|
UTSW |
1 |
88,056,252 (GRCm38) |
splice site |
probably null |
|
|
R5168:Ugt1a10
|
UTSW |
1 |
88,055,809 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5329:Ugt1a10
|
UTSW |
1 |
88,216,254 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5373:Ugt1a10
|
UTSW |
1 |
88,055,910 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5374:Ugt1a10
|
UTSW |
1 |
88,055,910 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5615:Ugt1a10
|
UTSW |
1 |
88,216,158 (GRCm38) |
small deletion |
probably benign |
|
|
R6498:Ugt1a10
|
UTSW |
1 |
88,216,140 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6727:Ugt1a10
|
UTSW |
1 |
88,056,257 (GRCm38) |
splice site |
probably null |
|
|
R6809:Ugt1a10
|
UTSW |
1 |
88,055,925 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6924:Ugt1a10
|
UTSW |
1 |
88,055,657 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6967:Ugt1a10
|
UTSW |
1 |
88,215,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7913:Ugt1a10
|
UTSW |
1 |
88,055,755 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9165:Ugt1a10
|
UTSW |
1 |
88,055,787 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9264:Ugt1a10
|
UTSW |
1 |
88,055,671 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R9475:Ugt1a10
|
UTSW |
1 |
88,216,260 (GRCm38) |
missense |
probably damaging |
1.00 |
|
S24628:Ugt1a10
|
UTSW |
1 |
88,216,158 (GRCm38) |
small deletion |
probably benign |
|
|
X0013:Ugt1a10
|
UTSW |
1 |
88,216,254 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1088:Ugt1a10
|
UTSW |
1 |
88,055,842 (GRCm38) |
missense |
probably benign |
0.20 |
|
Z1190:Ugt1a10
|
UTSW |
1 |
88,216,158 (GRCm38) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTACCATGGTTCCTGCAGCC -3'
(R):5'- GCATCAAAAGATCTCTGCTTCAAG -3'
Sequencing Primer
(F):5'- TCTGGCTTGGTCCAGGCAG -3'
(R):5'- AAAGATCTCTGCTTCAAGTACTCC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation