Incidental Mutation 'R5168:Ugt1a10'
| ID |
397375 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt1a10
|
| Ensembl Gene |
ENSMUSG00000090165 |
| Gene Name |
UDP glycosyltransferase 1 family, polypeptide A10 |
| Synonyms |
A13 |
| MMRRC Submission |
042748-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R5168 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87983110-88146726 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87983531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 110
(T110A)
|
| 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: T110A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165
AA Change: T110A
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
96% (47/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,086,070 (GRCm39) |
N478D |
probably benign |
Het |
| Acsl1 |
T |
A |
8: 46,966,303 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,088,561 (GRCm39) |
C116S |
probably damaging |
Het |
| Bag6 |
T |
C |
17: 35,363,671 (GRCm39) |
L785P |
probably damaging |
Het |
| Calcr |
T |
C |
6: 3,708,610 (GRCm39) |
N192S |
probably benign |
Het |
| Cntrl |
T |
A |
2: 35,047,667 (GRCm39) |
L1414H |
probably damaging |
Het |
| Cntrob |
T |
A |
11: 69,190,816 (GRCm39) |
I849F |
possibly damaging |
Het |
| Col6a3 |
C |
T |
1: 90,701,361 (GRCm39) |
W2518* |
probably null |
Het |
| Cxcl15 |
T |
A |
5: 90,943,142 (GRCm39) |
I48K |
probably damaging |
Het |
| Dab2 |
T |
C |
15: 6,365,924 (GRCm39) |
|
probably benign |
Het |
| Ddx54 |
A |
G |
5: 120,755,097 (GRCm39) |
E82G |
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,720,637 (GRCm39) |
W1249R |
probably damaging |
Het |
| Fras1 |
A |
C |
5: 96,856,616 (GRCm39) |
M2000L |
probably benign |
Het |
| Gpr31b |
A |
T |
17: 13,270,326 (GRCm39) |
I281N |
probably damaging |
Het |
| Gvin3 |
T |
C |
7: 106,196,054 (GRCm39) |
|
noncoding transcript |
Het |
| Haus5 |
T |
C |
7: 30,357,136 (GRCm39) |
T432A |
possibly damaging |
Het |
| Hecw2 |
A |
G |
1: 53,952,459 (GRCm39) |
S925P |
probably damaging |
Het |
| Katnal1 |
A |
G |
5: 148,858,132 (GRCm39) |
M26T |
possibly damaging |
Het |
| Mccc1 |
C |
T |
3: 36,044,929 (GRCm39) |
W71* |
probably null |
Het |
| Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
| Nrbp1 |
T |
A |
5: 31,407,481 (GRCm39) |
V397D |
probably damaging |
Het |
| Nt5dc1 |
T |
A |
10: 34,273,236 (GRCm39) |
E187D |
probably benign |
Het |
| Or1e19 |
T |
A |
11: 73,316,669 (GRCm39) |
I47F |
probably benign |
Het |
| Or51f23 |
C |
T |
7: 102,453,528 (GRCm39) |
A281V |
probably benign |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Pramel27 |
T |
C |
4: 143,579,768 (GRCm39) |
V451A |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,804,817 (GRCm39) |
V493A |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,767,207 (GRCm39) |
T1228A |
probably benign |
Het |
| Slc26a3 |
G |
A |
12: 31,518,553 (GRCm39) |
V674I |
possibly damaging |
Het |
| Spata31f1a |
C |
T |
4: 42,851,488 (GRCm39) |
V223I |
probably damaging |
Het |
| Srp68 |
C |
A |
11: 116,156,300 (GRCm39) |
E147D |
probably damaging |
Het |
| Tacr3 |
T |
C |
3: 134,535,320 (GRCm39) |
I96T |
probably damaging |
Het |
| Tmem236 |
T |
C |
2: 14,197,139 (GRCm39) |
|
probably null |
Het |
| Tmem62 |
T |
A |
2: 120,824,088 (GRCm39) |
N254K |
probably benign |
Het |
| Tmem79 |
A |
T |
3: 88,240,651 (GRCm39) |
L99Q |
probably damaging |
Het |
| Trav6-5 |
A |
T |
14: 53,728,973 (GRCm39) |
N78Y |
probably benign |
Het |
| Trim33 |
C |
T |
3: 103,248,997 (GRCm39) |
Q807* |
probably null |
Het |
| Vcl |
C |
T |
14: 21,060,170 (GRCm39) |
T603I |
probably damaging |
Het |
| Vps8 |
A |
T |
16: 21,276,195 (GRCm39) |
T243S |
probably damaging |
Het |
| Vps8 |
A |
C |
16: 21,351,849 (GRCm39) |
I323L |
probably benign |
Het |
| Zfp746 |
G |
C |
6: 48,041,329 (GRCm39) |
Q465E |
possibly 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 |
|
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 |
|
|
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'- CTGGTTCGACATGCAGATGG -3'
(R):5'- TCTTGCAAAGATCACTGATGGG -3'
Sequencing Primer
(F):5'- CAGATGGTTGTGGAGAAACTCATTC -3'
(R):5'- TCACTGATGGGAGTGACAGATACTTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation