Incidental Mutation 'R7913:Ugt1a10'
| ID |
610638 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt1a10
|
| Ensembl Gene |
ENSMUSG00000090165 |
| Gene Name |
UDP glycosyltransferase 1 family, polypeptide A10 |
| Synonyms |
A13 |
| MMRRC Submission |
045961-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R7913 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87983110-88146726 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87983477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 92
(Y92N)
|
| 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: Y92N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165
AA Change: Y92N
| 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 |
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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apaf1 |
A |
G |
10: 90,896,133 (GRCm39) |
V324A |
probably damaging |
Het |
| Aqp8 |
T |
A |
7: 123,063,495 (GRCm39) |
I115N |
possibly damaging |
Het |
| Atrn |
G |
A |
2: 130,812,131 (GRCm39) |
C692Y |
probably damaging |
Het |
| Card10 |
A |
T |
15: 78,665,303 (GRCm39) |
S717T |
possibly damaging |
Het |
| Cep78 |
T |
C |
19: 15,947,941 (GRCm39) |
S408G |
probably benign |
Het |
| Col24a1 |
G |
T |
3: 145,137,621 (GRCm39) |
G895* |
probably null |
Het |
| Cs |
A |
T |
10: 128,186,310 (GRCm39) |
K34N |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,408,435 (GRCm39) |
E1799G |
possibly damaging |
Het |
| Dlg5 |
A |
T |
14: 24,187,192 (GRCm39) |
|
probably null |
Het |
| Dpy19l4 |
A |
T |
4: 11,265,859 (GRCm39) |
Y696* |
probably null |
Het |
| Dync1h1 |
A |
T |
12: 110,595,168 (GRCm39) |
N1360I |
probably benign |
Het |
| Fgd2 |
G |
T |
17: 29,593,019 (GRCm39) |
R423L |
probably damaging |
Het |
| Fmo4 |
T |
C |
1: 162,621,741 (GRCm39) |
D490G |
possibly damaging |
Het |
| Gm5113 |
A |
T |
7: 29,877,648 (GRCm39) |
|
probably benign |
Het |
| Grid1 |
T |
A |
14: 35,291,654 (GRCm39) |
W854R |
probably damaging |
Het |
| H2-M1 |
T |
C |
17: 36,981,129 (GRCm39) |
|
probably null |
Het |
| Hivep1 |
T |
A |
13: 42,309,842 (GRCm39) |
M694K |
probably benign |
Het |
| Hsd17b6 |
T |
C |
10: 127,833,645 (GRCm39) |
T79A |
possibly damaging |
Het |
| Hspa4 |
A |
C |
11: 53,153,134 (GRCm39) |
V761G |
probably benign |
Het |
| Ifi203 |
T |
C |
1: 173,754,523 (GRCm39) |
Y736C |
probably damaging |
Het |
| Mettl9 |
T |
A |
7: 120,675,524 (GRCm39) |
L308Q |
probably damaging |
Het |
| Miox |
A |
G |
15: 89,220,785 (GRCm39) |
D230G |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,959,522 (GRCm39) |
C319* |
probably null |
Het |
| Ncs1 |
C |
A |
2: 31,177,296 (GRCm39) |
|
probably null |
Het |
| Nell1 |
T |
A |
7: 49,929,270 (GRCm39) |
H392Q |
possibly damaging |
Het |
| Nlrp1b |
C |
A |
11: 71,108,537 (GRCm39) |
E321D |
possibly damaging |
Het |
| Nlrp9b |
A |
T |
7: 19,779,725 (GRCm39) |
H796L |
probably benign |
Het |
| Nudt16l1 |
C |
A |
16: 4,757,245 (GRCm39) |
Q53K |
possibly damaging |
Het |
| Nyap1 |
A |
G |
5: 137,733,231 (GRCm39) |
S601P |
probably damaging |
Het |
| Odf2l |
C |
T |
3: 144,859,244 (GRCm39) |
Q634* |
probably null |
Het |
| Or10al2 |
A |
T |
17: 37,982,999 (GRCm39) |
E28D |
probably benign |
Het |
| Or12e14 |
A |
G |
2: 87,677,037 (GRCm39) |
I141V |
probably benign |
Het |
| Or1e22 |
A |
G |
11: 73,377,224 (GRCm39) |
V142A |
probably benign |
Het |
| Or5ac23 |
C |
T |
16: 59,149,606 (GRCm39) |
D89N |
possibly damaging |
Het |
| Or5b120 |
T |
A |
19: 13,480,571 (GRCm39) |
V288E |
probably damaging |
Het |
| Or5m10 |
T |
A |
2: 85,718,074 (GRCm39) |
L310H |
probably damaging |
Het |
| Peg3 |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
7: 6,712,167 (GRCm39) |
|
probably benign |
Het |
| Pik3c2b |
T |
C |
1: 133,017,799 (GRCm39) |
|
probably null |
Het |
| Pramel21 |
T |
A |
4: 143,341,615 (GRCm39) |
Y15N |
possibly damaging |
Het |
| Prl3c1 |
A |
G |
13: 27,383,393 (GRCm39) |
I40V |
probably benign |
Het |
| R3hdm4 |
C |
T |
10: 79,747,779 (GRCm39) |
A229T |
probably damaging |
Het |
| Rab3gap2 |
T |
C |
1: 184,995,013 (GRCm39) |
S851P |
possibly damaging |
Het |
| Ralgapb |
A |
T |
2: 158,307,859 (GRCm39) |
I1056F |
probably damaging |
Het |
| Sec16b |
T |
C |
1: 157,356,899 (GRCm39) |
Y36H |
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,073,924 (GRCm39) |
V451D |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,238,506 (GRCm39) |
K334R |
probably damaging |
Het |
| Synj1 |
A |
T |
16: 90,788,315 (GRCm39) |
N184K |
possibly damaging |
Het |
| Syt1 |
T |
C |
10: 108,478,109 (GRCm39) |
D105G |
probably benign |
Het |
| Taar7e |
T |
A |
10: 23,913,902 (GRCm39) |
C131S |
possibly damaging |
Het |
| Tead4 |
A |
G |
6: 128,220,331 (GRCm39) |
|
probably null |
Het |
| Tescl |
C |
A |
7: 24,033,076 (GRCm39) |
R83L |
probably damaging |
Het |
| Ufd1 |
G |
T |
16: 18,633,616 (GRCm39) |
V14F |
probably benign |
Het |
| Vmn2r52 |
C |
A |
7: 9,896,877 (GRCm39) |
V532L |
probably benign |
Het |
| Vmn2r67 |
G |
A |
7: 84,801,036 (GRCm39) |
T300I |
possibly damaging |
Het |
| Wt1 |
T |
G |
2: 104,997,205 (GRCm39) |
S381A |
probably damaging |
Het |
| Zbtb44 |
C |
T |
9: 30,965,504 (GRCm39) |
Q305* |
probably null |
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 |
|
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 |
|
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'- TTACCATGGTTCCTGCAGCC -3'
(R):5'- GGAGTGACAGATACTTGGCAAC -3'
Sequencing Primer
(F):5'- TCTGGCTTGGTCCAGGCAG -3'
(R):5'- TTAATCCACATACATCGAAAGGATC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation