Incidental Mutation 'R2307:Ugt1a10'
ID |
244612 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt1a10
|
Ensembl Gene |
ENSMUSG00000090165 |
Gene Name |
UDP glycosyltransferase 1 family, polypeptide A10 |
Synonyms |
A13 |
MMRRC Submission |
040306-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.130)
|
Stock # |
R2307 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
87983110-88146726 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87983669 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 156
(I156V)
|
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: I156V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000108767 Gene: ENSMUSG00000090165 AA Change: I156V
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: 99.4%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot5 |
T |
C |
12: 84,122,375 (GRCm39) |
F320L |
possibly damaging |
Het |
Alox12e |
T |
C |
11: 70,212,087 (GRCm39) |
K170R |
probably damaging |
Het |
Ano2 |
T |
C |
6: 125,969,849 (GRCm39) |
S722P |
probably benign |
Het |
Cep192 |
A |
G |
18: 67,946,970 (GRCm39) |
Y215C |
probably benign |
Het |
Ces2g |
A |
G |
8: 105,695,044 (GRCm39) |
N555S |
probably benign |
Het |
Cfap58 |
C |
T |
19: 47,950,925 (GRCm39) |
Q429* |
probably null |
Het |
Clcnkb |
A |
G |
4: 141,139,640 (GRCm39) |
S121P |
probably damaging |
Het |
Cltb |
T |
A |
13: 54,746,564 (GRCm39) |
E67D |
probably damaging |
Het |
Ddhd1 |
A |
T |
14: 45,846,447 (GRCm39) |
L581Q |
probably damaging |
Het |
Dnajc3 |
T |
C |
14: 119,190,633 (GRCm39) |
|
probably null |
Het |
Fgf14 |
T |
A |
14: 124,221,234 (GRCm39) |
N190I |
probably damaging |
Het |
Galnt17 |
T |
G |
5: 130,929,460 (GRCm39) |
Y449S |
probably damaging |
Het |
Grin3a |
C |
T |
4: 49,793,033 (GRCm39) |
|
probably null |
Het |
Gxylt2 |
A |
G |
6: 100,764,173 (GRCm39) |
N286S |
probably damaging |
Het |
H2-K2 |
A |
G |
17: 34,216,113 (GRCm39) |
V120A |
probably benign |
Het |
Inpp5f |
T |
C |
7: 128,296,034 (GRCm39) |
V168A |
probably damaging |
Het |
Kif1a |
G |
T |
1: 93,006,491 (GRCm39) |
H59N |
probably damaging |
Het |
Krt24 |
T |
C |
11: 99,175,456 (GRCm39) |
Q193R |
possibly damaging |
Het |
Krtap5-4 |
C |
A |
7: 141,857,351 (GRCm39) |
S7* |
probably null |
Het |
Ltn1 |
A |
G |
16: 87,229,312 (GRCm39) |
|
probably null |
Het |
Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
Mep1b |
A |
T |
18: 21,221,632 (GRCm39) |
D194V |
probably damaging |
Het |
Mettl25b |
A |
T |
3: 87,834,162 (GRCm39) |
M171K |
possibly damaging |
Het |
Orc3 |
C |
T |
4: 34,586,503 (GRCm39) |
V382M |
probably damaging |
Het |
Pclo |
T |
A |
5: 14,728,665 (GRCm39) |
|
probably benign |
Het |
Pcolce |
T |
C |
5: 137,607,356 (GRCm39) |
H45R |
probably damaging |
Het |
Prf1 |
T |
C |
10: 61,138,942 (GRCm39) |
V300A |
possibly damaging |
Het |
Prorp |
T |
C |
12: 55,351,101 (GRCm39) |
F137L |
probably damaging |
Het |
Prss53 |
T |
C |
7: 127,490,037 (GRCm39) |
I18V |
probably benign |
Het |
Rnase2b |
A |
G |
14: 51,400,188 (GRCm39) |
T90A |
probably benign |
Het |
Rpap1 |
G |
A |
2: 119,614,247 (GRCm39) |
P50L |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sec16b |
G |
A |
1: 157,363,062 (GRCm39) |
V298I |
probably damaging |
Het |
Smarcd3 |
C |
T |
5: 24,800,746 (GRCm39) |
R156Q |
probably damaging |
Het |
St6galnac2 |
C |
T |
11: 116,572,731 (GRCm39) |
A242T |
probably damaging |
Het |
Syce1l |
T |
C |
8: 114,369,937 (GRCm39) |
|
probably null |
Het |
Tcam1 |
T |
C |
11: 106,174,940 (GRCm39) |
C132R |
probably damaging |
Het |
Trpa1 |
T |
C |
1: 14,982,605 (GRCm39) |
I84V |
probably benign |
Het |
Ttn |
G |
A |
2: 76,717,342 (GRCm39) |
R455* |
probably null |
Het |
Ubl5 |
T |
A |
9: 20,557,876 (GRCm39) |
|
probably benign |
Het |
Ubr2 |
T |
A |
17: 47,277,141 (GRCm39) |
K779* |
probably null |
Het |
Unc13b |
A |
G |
4: 43,239,854 (GRCm39) |
T3513A |
probably damaging |
Het |
Vmn1r20 |
C |
T |
6: 57,409,121 (GRCm39) |
T149I |
probably benign |
Het |
Zfp804a |
T |
A |
2: 82,087,201 (GRCm39) |
D343E |
probably benign |
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 |
R2039:Ugt1a10
|
UTSW |
1 |
87,983,703 (GRCm39) |
missense |
probably benign |
0.32 |
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'- AGGACCTGGACAGAGAGTTC -3'
(R):5'- TTCAGAGGCAATTTCAACAGC -3'
Sequencing Primer
(F):5'- CTGGACAGAGAGTTCAAGTATTTTAC -3'
(R):5'- CAGAGGCAATTTCAACAGCAGTTTTG -3'
|
Posted On |
2014-10-30 |