Incidental Mutation 'R2039:Ugt1a10'
ID |
225375 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt1a10
|
Ensembl Gene |
ENSMUSG00000090165 |
Gene Name |
UDP glycosyltransferase 1 family, polypeptide A10 |
Synonyms |
A13 |
MMRRC Submission |
040046-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.130)
|
Stock # |
R2039 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
87983110-88146726 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 87983703 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 167
(I167S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108767
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113142]
[ENSMUST00000138182]
[ENSMUST00000173325]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000113142
AA Change: I167S
PolyPhen 2
Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000108767 Gene: ENSMUSG00000090165 AA Change: I167S
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
Validation Efficiency |
96% (45/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
C |
A |
6: 121,636,908 (GRCm39) |
T757K |
probably benign |
Het |
Abca14 |
T |
C |
7: 119,911,487 (GRCm39) |
V1357A |
probably damaging |
Het |
Abca5 |
A |
G |
11: 110,190,755 (GRCm39) |
F785S |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 37,058,027 (GRCm39) |
F3206I |
possibly damaging |
Het |
Bmal1 |
T |
G |
7: 112,884,319 (GRCm39) |
L119R |
probably damaging |
Het |
Cacna1h |
T |
C |
17: 25,610,819 (GRCm39) |
I554V |
probably benign |
Het |
Cuzd1 |
A |
T |
7: 130,916,643 (GRCm39) |
|
probably benign |
Het |
Cuzd1 |
T |
C |
7: 130,911,345 (GRCm39) |
S545G |
probably benign |
Het |
Edrf1 |
T |
A |
7: 133,255,678 (GRCm39) |
Y574* |
probably null |
Het |
Eef1d |
T |
C |
15: 75,767,618 (GRCm39) |
D252G |
probably damaging |
Het |
Efna5 |
T |
G |
17: 63,188,061 (GRCm39) |
D22A |
probably benign |
Het |
Esyt1 |
C |
T |
10: 128,347,820 (GRCm39) |
V957I |
probably benign |
Het |
Etl4 |
T |
C |
2: 20,790,039 (GRCm39) |
S881P |
probably damaging |
Het |
Exoc3 |
A |
G |
13: 74,341,096 (GRCm39) |
I236T |
probably benign |
Het |
Far2 |
T |
C |
6: 148,067,075 (GRCm39) |
L320S |
probably benign |
Het |
Fsd1l |
T |
A |
4: 53,679,972 (GRCm39) |
D223E |
probably benign |
Het |
Fut1 |
C |
T |
7: 45,268,415 (GRCm39) |
A123V |
possibly damaging |
Het |
Gap43 |
A |
T |
16: 42,112,715 (GRCm39) |
D15E |
possibly damaging |
Het |
Gm12789 |
T |
C |
4: 101,846,183 (GRCm39) |
|
probably benign |
Het |
Gm5114 |
T |
A |
7: 39,058,612 (GRCm39) |
T336S |
probably damaging |
Het |
Hhla1 |
G |
A |
15: 65,808,226 (GRCm39) |
T273I |
possibly damaging |
Het |
Hira |
A |
G |
16: 18,770,451 (GRCm39) |
H812R |
probably benign |
Het |
Hsp90aa1 |
T |
C |
12: 110,660,216 (GRCm39) |
N360S |
probably damaging |
Het |
Kmt2c |
A |
G |
5: 25,534,038 (GRCm39) |
L1463S |
possibly damaging |
Het |
Lman2l |
A |
G |
1: 36,467,535 (GRCm39) |
F171S |
probably damaging |
Het |
Lrfn5 |
T |
C |
12: 61,887,109 (GRCm39) |
L299S |
possibly damaging |
Het |
Msr1 |
A |
T |
8: 40,042,418 (GRCm39) |
W386R |
probably damaging |
Het |
Myo1e |
T |
C |
9: 70,227,415 (GRCm39) |
V162A |
possibly damaging |
Het |
Npy6r |
A |
G |
18: 44,409,070 (GRCm39) |
T164A |
probably benign |
Het |
Or52e4 |
T |
C |
7: 104,705,597 (GRCm39) |
L48P |
possibly damaging |
Het |
Rbak |
C |
A |
5: 143,158,930 (GRCm39) |
V708L |
probably benign |
Het |
Rev3l |
A |
G |
10: 39,700,440 (GRCm39) |
I1646V |
probably damaging |
Het |
Rsrc1 |
A |
G |
3: 66,901,951 (GRCm39) |
T34A |
unknown |
Het |
Septin9 |
G |
A |
11: 117,242,443 (GRCm39) |
V53I |
probably damaging |
Het |
Snrnp200 |
G |
A |
2: 127,076,904 (GRCm39) |
A1646T |
probably benign |
Het |
Spata31h1 |
A |
G |
10: 82,120,510 (GRCm39) |
S4167P |
probably damaging |
Het |
Sqor |
G |
A |
2: 122,634,324 (GRCm39) |
|
probably null |
Het |
St7 |
T |
C |
6: 17,886,111 (GRCm39) |
Y358H |
probably damaging |
Het |
Tafa1 |
C |
A |
6: 96,631,725 (GRCm39) |
|
probably null |
Het |
Tas2r126 |
T |
A |
6: 42,411,557 (GRCm39) |
M30K |
probably benign |
Het |
Thsd7a |
G |
A |
6: 12,408,922 (GRCm39) |
T700I |
possibly damaging |
Het |
Ttn |
T |
G |
2: 76,698,810 (GRCm39) |
|
probably benign |
Het |
Uhmk1 |
T |
C |
1: 170,039,836 (GRCm39) |
D88G |
probably damaging |
Het |
Washc2 |
T |
A |
6: 116,201,400 (GRCm39) |
F332Y |
probably damaging |
Het |
Wdr48 |
T |
A |
9: 119,738,453 (GRCm39) |
W38R |
probably damaging |
Het |
Zfc3h1 |
A |
G |
10: 115,242,388 (GRCm39) |
D622G |
probably damaging |
Het |
|
Other mutations in Ugt1a10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01126:Ugt1a10
|
APN |
1 |
87,983,709 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL02219:Ugt1a10
|
APN |
1 |
87,983,780 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02511:Ugt1a10
|
APN |
1 |
87,983,585 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02990:Ugt1a10
|
APN |
1 |
87,983,601 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4142001:Ugt1a10
|
UTSW |
1 |
88,143,880 (GRCm39) |
small deletion |
probably benign |
|
R0201:Ugt1a10
|
UTSW |
1 |
88,145,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R0201:Ugt1a10
|
UTSW |
1 |
88,142,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R0522:Ugt1a10
|
UTSW |
1 |
88,145,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R0525:Ugt1a10
|
UTSW |
1 |
88,145,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R0554:Ugt1a10
|
UTSW |
1 |
87,983,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R0748:Ugt1a10
|
UTSW |
1 |
88,142,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R0811:Ugt1a10
|
UTSW |
1 |
87,983,904 (GRCm39) |
missense |
probably benign |
0.33 |
R0812:Ugt1a10
|
UTSW |
1 |
87,983,904 (GRCm39) |
missense |
probably benign |
0.33 |
R1129:Ugt1a10
|
UTSW |
1 |
87,983,331 (GRCm39) |
missense |
probably benign |
|
R1207:Ugt1a10
|
UTSW |
1 |
88,143,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R1432:Ugt1a10
|
UTSW |
1 |
88,143,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R1457:Ugt1a10
|
UTSW |
1 |
87,983,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R1469:Ugt1a10
|
UTSW |
1 |
88,143,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R1972:Ugt1a10
|
UTSW |
1 |
87,983,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R1973:Ugt1a10
|
UTSW |
1 |
87,983,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R2307:Ugt1a10
|
UTSW |
1 |
87,983,669 (GRCm39) |
missense |
probably benign |
0.01 |
R3952:Ugt1a10
|
UTSW |
1 |
88,143,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R3973:Ugt1a10
|
UTSW |
1 |
88,143,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R4232:Ugt1a10
|
UTSW |
1 |
87,983,932 (GRCm39) |
missense |
probably benign |
0.39 |
R4392:Ugt1a10
|
UTSW |
1 |
88,142,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R4393:Ugt1a10
|
UTSW |
1 |
88,142,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R4402:Ugt1a10
|
UTSW |
1 |
88,142,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R4417:Ugt1a10
|
UTSW |
1 |
87,983,717 (GRCm39) |
missense |
probably benign |
|
R4474:Ugt1a10
|
UTSW |
1 |
88,143,650 (GRCm39) |
intron |
probably benign |
|
R4476:Ugt1a10
|
UTSW |
1 |
88,143,650 (GRCm39) |
intron |
probably benign |
|
R4515:Ugt1a10
|
UTSW |
1 |
87,983,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R4579:Ugt1a10
|
UTSW |
1 |
87,983,838 (GRCm39) |
missense |
probably benign |
|
R4582:Ugt1a10
|
UTSW |
1 |
87,983,463 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4609:Ugt1a10
|
UTSW |
1 |
87,983,204 (GRCm39) |
start codon destroyed |
possibly damaging |
0.92 |
R4627:Ugt1a10
|
UTSW |
1 |
88,146,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R4790:Ugt1a10
|
UTSW |
1 |
87,984,009 (GRCm39) |
missense |
probably damaging |
0.98 |
R4799:Ugt1a10
|
UTSW |
1 |
88,143,650 (GRCm39) |
intron |
probably benign |
|
R4910:Ugt1a10
|
UTSW |
1 |
88,142,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R4915:Ugt1a10
|
UTSW |
1 |
87,983,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R5110:Ugt1a10
|
UTSW |
1 |
87,983,974 (GRCm39) |
splice site |
probably null |
|
R5168:Ugt1a10
|
UTSW |
1 |
87,983,531 (GRCm39) |
missense |
probably benign |
0.01 |
R5329:Ugt1a10
|
UTSW |
1 |
88,143,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R5373:Ugt1a10
|
UTSW |
1 |
87,983,632 (GRCm39) |
missense |
probably damaging |
0.98 |
R5374:Ugt1a10
|
UTSW |
1 |
87,983,632 (GRCm39) |
missense |
probably damaging |
0.98 |
R5615:Ugt1a10
|
UTSW |
1 |
88,143,880 (GRCm39) |
small deletion |
probably benign |
|
R6498:Ugt1a10
|
UTSW |
1 |
88,143,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R6727:Ugt1a10
|
UTSW |
1 |
87,983,979 (GRCm39) |
splice site |
probably null |
|
R6809:Ugt1a10
|
UTSW |
1 |
87,983,647 (GRCm39) |
missense |
probably damaging |
0.98 |
R6924:Ugt1a10
|
UTSW |
1 |
87,983,379 (GRCm39) |
missense |
probably damaging |
0.99 |
R6967:Ugt1a10
|
UTSW |
1 |
88,142,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R7913:Ugt1a10
|
UTSW |
1 |
87,983,477 (GRCm39) |
missense |
probably benign |
0.00 |
R9165:Ugt1a10
|
UTSW |
1 |
87,983,509 (GRCm39) |
missense |
probably benign |
0.00 |
R9264:Ugt1a10
|
UTSW |
1 |
87,983,393 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9475:Ugt1a10
|
UTSW |
1 |
88,143,982 (GRCm39) |
missense |
probably damaging |
1.00 |
S24628:Ugt1a10
|
UTSW |
1 |
88,143,880 (GRCm39) |
small deletion |
probably benign |
|
X0013:Ugt1a10
|
UTSW |
1 |
88,143,976 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Ugt1a10
|
UTSW |
1 |
87,983,564 (GRCm39) |
missense |
probably benign |
0.20 |
Z1190:Ugt1a10
|
UTSW |
1 |
88,143,880 (GRCm39) |
small deletion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATGACAGGCTCAGCTAGAGG -3'
(R):5'- TCATAGTCACTGGGGTCTGC -3'
Sequencing Primer
(F):5'- CTCAGCTAGAGGTTTCTTTGAAC -3'
(R):5'- TCTGCAGAACTTCAGAGGC -3'
|
Posted On |
2014-08-25 |