Incidental Mutation 'R1973:Ugt1a10'
ID |
221168 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt1a10
|
Ensembl Gene |
ENSMUSG00000090165 |
Gene Name |
UDP glycosyltransferase 1 family, polypeptide A10 |
Synonyms |
A13 |
MMRRC Submission |
039986-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.130)
|
Stock # |
R1973 (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 T
at 87983769 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 189
(Y189F)
|
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 damaging
Transcript: ENSMUST00000113142
AA Change: Y189F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108767 Gene: ENSMUSG00000090165 AA Change: Y189F
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
A |
C |
5: 8,862,746 (GRCm39) |
I143L |
probably benign |
Het |
Acp7 |
T |
A |
7: 28,307,414 (GRCm39) |
D481V |
probably damaging |
Het |
AI597479 |
T |
A |
1: 43,150,286 (GRCm39) |
I132K |
probably benign |
Het |
Anxa13 |
T |
C |
15: 58,228,030 (GRCm39) |
|
noncoding transcript |
Het |
Brca1 |
A |
T |
11: 101,417,229 (GRCm39) |
C302S |
probably benign |
Het |
Brd8 |
T |
A |
18: 34,741,066 (GRCm39) |
D420V |
probably damaging |
Het |
Cacna1g |
A |
T |
11: 94,350,603 (GRCm39) |
V414E |
possibly damaging |
Het |
Ccdc142 |
T |
A |
6: 83,079,544 (GRCm39) |
C294S |
probably benign |
Het |
Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
Chat |
C |
T |
14: 32,146,148 (GRCm39) |
V342I |
probably benign |
Het |
Chd6 |
A |
G |
2: 160,808,307 (GRCm39) |
S1636P |
probably damaging |
Het |
Clec4a1 |
A |
G |
6: 122,901,793 (GRCm39) |
|
probably null |
Het |
Col6a3 |
A |
T |
1: 90,731,897 (GRCm39) |
I1452N |
probably damaging |
Het |
Dennd2c |
T |
C |
3: 103,039,014 (GRCm39) |
V54A |
probably benign |
Het |
Dnah1 |
C |
T |
14: 30,987,348 (GRCm39) |
W3550* |
probably null |
Het |
Efl1 |
T |
C |
7: 82,412,085 (GRCm39) |
S825P |
probably damaging |
Het |
Entrep2 |
A |
T |
7: 64,425,516 (GRCm39) |
I192N |
possibly damaging |
Het |
Faxc |
G |
A |
4: 21,993,405 (GRCm39) |
E350K |
probably benign |
Het |
Frem2 |
T |
A |
3: 53,559,653 (GRCm39) |
Y1618F |
probably benign |
Het |
Fubp3 |
A |
G |
2: 31,493,298 (GRCm39) |
T6A |
probably benign |
Het |
Gm5814 |
A |
T |
17: 47,721,474 (GRCm39) |
M63L |
probably benign |
Het |
Gpr149 |
T |
C |
3: 62,438,216 (GRCm39) |
K647R |
probably benign |
Het |
Iqgap3 |
T |
A |
3: 87,991,235 (GRCm39) |
|
probably null |
Het |
Kcnh3 |
T |
C |
15: 99,127,281 (GRCm39) |
V359A |
probably damaging |
Het |
Kit |
G |
A |
5: 75,776,102 (GRCm39) |
A295T |
probably damaging |
Het |
Krt77 |
G |
T |
15: 101,769,679 (GRCm39) |
A397E |
probably damaging |
Het |
Mis18bp1 |
G |
C |
12: 65,195,850 (GRCm39) |
S638* |
probably null |
Het |
Neurl4 |
C |
T |
11: 69,800,118 (GRCm39) |
P1091S |
probably benign |
Het |
Nod2 |
A |
T |
8: 89,379,501 (GRCm39) |
M8L |
probably damaging |
Het |
Nos1 |
A |
G |
5: 118,074,491 (GRCm39) |
T1046A |
possibly damaging |
Het |
Nsfl1c |
G |
T |
2: 151,347,334 (GRCm39) |
S202I |
probably damaging |
Het |
Nuak2 |
A |
T |
1: 132,258,340 (GRCm39) |
H257L |
probably damaging |
Het |
Nwd1 |
T |
C |
8: 73,431,590 (GRCm39) |
V1195A |
possibly damaging |
Het |
Or10k2 |
T |
C |
8: 84,268,421 (GRCm39) |
V216A |
probably benign |
Het |
Or2ag12 |
T |
C |
7: 106,277,426 (GRCm39) |
D89G |
probably benign |
Het |
Or52a20 |
T |
A |
7: 103,365,804 (GRCm39) |
M1K |
probably null |
Het |
Or8b40 |
T |
A |
9: 38,027,863 (GRCm39) |
M257K |
possibly damaging |
Het |
Or8g51 |
A |
G |
9: 38,609,164 (GRCm39) |
V170A |
probably damaging |
Het |
Pclo |
G |
T |
5: 14,726,073 (GRCm39) |
|
probably null |
Het |
Pnpla7 |
A |
G |
2: 24,906,629 (GRCm39) |
D664G |
probably damaging |
Het |
Prl8a1 |
G |
A |
13: 27,760,917 (GRCm39) |
T105I |
probably benign |
Het |
Ptger1 |
C |
A |
8: 84,396,083 (GRCm39) |
T380K |
probably benign |
Het |
Ptk7 |
G |
A |
17: 46,897,733 (GRCm39) |
Q282* |
probably null |
Het |
Ptpn18 |
G |
T |
1: 34,502,190 (GRCm39) |
D45Y |
probably damaging |
Het |
Rab11fip3 |
T |
C |
17: 26,243,365 (GRCm39) |
D589G |
probably damaging |
Het |
Rara |
A |
G |
11: 98,862,496 (GRCm39) |
N299S |
possibly damaging |
Het |
Rpl13a |
T |
A |
7: 44,775,419 (GRCm39) |
K368* |
probably null |
Het |
Rslcan18 |
T |
C |
13: 67,256,087 (GRCm39) |
|
probably benign |
Het |
Rtel1 |
A |
G |
2: 180,993,419 (GRCm39) |
Y731C |
probably benign |
Het |
Sec16a |
A |
T |
2: 26,316,501 (GRCm39) |
S1666R |
probably damaging |
Het |
Sis |
A |
G |
3: 72,828,337 (GRCm39) |
F1217S |
probably damaging |
Het |
Slc10a7 |
T |
A |
8: 79,423,962 (GRCm39) |
|
probably null |
Het |
Slc22a7 |
A |
G |
17: 46,748,016 (GRCm39) |
V214A |
probably damaging |
Het |
Slc26a8 |
T |
C |
17: 28,882,579 (GRCm39) |
I249V |
probably benign |
Het |
Slc38a4 |
T |
C |
15: 96,897,478 (GRCm39) |
K446E |
probably benign |
Het |
Sned1 |
G |
A |
1: 93,192,795 (GRCm39) |
G361S |
probably damaging |
Het |
Spef2 |
T |
G |
15: 9,663,152 (GRCm39) |
*876C |
probably null |
Het |
Spink11 |
A |
G |
18: 44,329,205 (GRCm39) |
C14R |
unknown |
Het |
Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
Tnfaip3 |
T |
C |
10: 18,880,252 (GRCm39) |
N605S |
probably damaging |
Het |
Trpc1 |
A |
G |
9: 95,605,308 (GRCm39) |
M283T |
probably benign |
Het |
Ttn |
A |
G |
2: 76,544,706 (GRCm39) |
S32799P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,550,443 (GRCm39) |
I31613T |
probably damaging |
Het |
Usp32 |
G |
T |
11: 84,994,757 (GRCm39) |
L52I |
probably benign |
Het |
Usp33 |
A |
G |
3: 152,065,923 (GRCm39) |
T68A |
possibly damaging |
Het |
Vmn1r7 |
A |
G |
6: 57,002,011 (GRCm39) |
F83S |
probably benign |
Het |
Vmn2r5 |
C |
T |
3: 64,411,642 (GRCm39) |
E309K |
probably damaging |
Het |
Vps26c |
T |
C |
16: 94,302,405 (GRCm39) |
N267S |
probably damaging |
Het |
Wdr43 |
A |
G |
17: 71,947,235 (GRCm39) |
N364D |
probably benign |
Het |
Zdbf2 |
C |
A |
1: 63,348,860 (GRCm39) |
P2413Q |
unknown |
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 |
R2039:Ugt1a10
|
UTSW |
1 |
87,983,703 (GRCm39) |
missense |
probably benign |
0.32 |
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'- GCTCAGCTAGAGGTTTCTTTGAAC -3'
(R):5'- CACTGGGCTAAAGAGGTCTG -3'
Sequencing Primer
(F):5'- CACACTCTAGGGGTTTGTTTAATGAC -3'
(R):5'- CTAAAGAGGTCTGTCATAGTCACTGG -3'
|
Posted On |
2014-08-25 |