Incidental Mutation 'R6640:Ugt1a6b'
| ID |
525698 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt1a6b
|
| Ensembl Gene |
ENSMUSG00000090145 |
| Gene Name |
UDP glucuronosyltransferase 1 family, polypeptide A6B |
| Synonyms |
A9' |
| MMRRC Submission |
044761-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R6640 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
88030979-88146720 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 88035516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 285
(T285P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108763
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058237]
[ENSMUST00000073772]
[ENSMUST00000113135]
[ENSMUST00000113137]
[ENSMUST00000113138]
[ENSMUST00000113139]
[ENSMUST00000113142]
[ENSMUST00000138182]
[ENSMUST00000173325]
[ENSMUST00000126203]
[ENSMUST00000150634]
|
| AlphaFold |
K9J7B2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058237
|
| SMART Domains |
Protein: ENSMUSP00000058683
Gene: ENSMUSG00000090124
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
26 |
522 |
1.5e-234 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
361 |
450 |
4.5e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073772
|
| SMART Domains |
Protein: ENSMUSP00000073444
Gene: ENSMUSG00000090175
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
24 |
519 |
2.3e-232 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
358 |
447 |
4.5e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113135
|
| SMART Domains |
Protein: ENSMUSP00000108760
Gene: ENSMUSG00000090124
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
27 |
522 |
1.2e-229 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
363 |
448 |
1e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113137
AA Change: T285P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108762
Gene: ENSMUSG00000090145
AA Change: T285P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
27 |
522 |
1.3e-231 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
361 |
450 |
2.8e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113138
AA Change: T285P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108763
Gene: ENSMUSG00000090145
AA Change: T285P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
27 |
522 |
7.3e-229 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
363 |
448 |
6.6e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113139
|
| SMART Domains |
Protein: ENSMUSP00000108764
Gene: ENSMUSG00000089675
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
26 |
521 |
3.6e-237 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
360 |
449 |
1.3e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113142
|
| SMART Domains |
Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126203
|
| SMART Domains |
Protein: ENSMUSP00000116653
Gene: ENSMUSG00000090124
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
26 |
62 |
4.6e-11 |
PFAM |
|
Pfam:UDPGT
|
59 |
127 |
8.9e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150634
|
| SMART Domains |
Protein: ENSMUSP00000123452
Gene: ENSMUSG00000090124
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
26 |
62 |
9.5e-11 |
PFAM |
|
Pfam:UDPGT
|
58 |
207 |
2e-90 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
137 |
207 |
4.8e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173165
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
97% (31/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,530,248 (GRCm39) |
N936K |
probably benign |
Het |
| Abca2 |
A |
T |
2: 25,337,015 (GRCm39) |
Y2318F |
possibly damaging |
Het |
| Aldh1b1 |
A |
G |
4: 45,803,868 (GRCm39) |
T469A |
possibly damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,954,605 (GRCm39) |
D581G |
probably benign |
Het |
| Ccdc136 |
A |
G |
6: 29,412,959 (GRCm39) |
D382G |
possibly damaging |
Het |
| Dapk1 |
A |
G |
13: 60,864,628 (GRCm39) |
K141E |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,001,276 (GRCm39) |
W3973R |
probably damaging |
Het |
| Dock10 |
G |
T |
1: 80,511,555 (GRCm39) |
S1518* |
probably null |
Het |
| Elovl5 |
C |
A |
9: 77,887,195 (GRCm39) |
Y195* |
probably null |
Het |
| Fbxl21 |
T |
A |
13: 56,684,822 (GRCm39) |
W309R |
probably damaging |
Het |
| Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Gpx1 |
A |
G |
9: 108,217,295 (GRCm39) |
D133G |
probably damaging |
Het |
| Hoxd1 |
T |
A |
2: 74,593,606 (GRCm39) |
V54E |
probably damaging |
Het |
| Kcnh3 |
T |
C |
15: 99,139,649 (GRCm39) |
V876A |
probably benign |
Het |
| Klri2 |
G |
C |
6: 129,709,158 (GRCm39) |
F231L |
probably benign |
Het |
| Mogat1 |
T |
G |
1: 78,500,411 (GRCm39) |
S158R |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Or2ag13 |
T |
A |
7: 106,313,247 (GRCm39) |
I214F |
probably damaging |
Het |
| Or8k16 |
T |
A |
2: 85,520,279 (GRCm39) |
C169S |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,911,167 (GRCm39) |
A673T |
possibly damaging |
Het |
| Pigm |
T |
C |
1: 172,205,254 (GRCm39) |
V330A |
probably damaging |
Het |
| Rab33b |
A |
G |
3: 51,391,900 (GRCm39) |
T50A |
possibly damaging |
Het |
| Raver2 |
C |
T |
4: 100,988,500 (GRCm39) |
P371L |
probably damaging |
Het |
| Rpl15-ps6 |
G |
T |
15: 52,341,016 (GRCm39) |
|
noncoding transcript |
Het |
| Sh3rf2 |
T |
A |
18: 42,234,705 (GRCm39) |
Y163N |
probably damaging |
Het |
| Slc1a1 |
T |
C |
19: 28,871,970 (GRCm39) |
|
probably null |
Het |
| Slc6a18 |
T |
A |
13: 73,812,401 (GRCm39) |
Y563F |
possibly damaging |
Het |
| Sp3 |
A |
G |
2: 72,801,458 (GRCm39) |
L185P |
possibly damaging |
Het |
| Thbs2 |
T |
C |
17: 14,893,630 (GRCm39) |
D850G |
possibly damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmtc2 |
T |
A |
10: 105,409,610 (GRCm39) |
M1L |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
| Trpm3 |
T |
A |
19: 22,955,946 (GRCm39) |
I1126K |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,617,842 (GRCm39) |
T1181A |
possibly damaging |
Het |
|
| Other mutations in Ugt1a6b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00980:Ugt1a6b
|
APN |
1 |
88,035,327 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL00990:Ugt1a6b
|
APN |
1 |
88,142,900 (GRCm39) |
splice site |
probably null |
|
|
IGL02139:Ugt1a6b
|
APN |
1 |
88,035,527 (GRCm39) |
intron |
probably benign |
|
|
PIT4131001:Ugt1a6b
|
UTSW |
1 |
88,146,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4131001:Ugt1a6b
|
UTSW |
1 |
88,143,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4131001:Ugt1a6b
|
UTSW |
1 |
88,143,880 (GRCm39) |
small deletion |
probably benign |
|
|
R0164:Ugt1a6b
|
UTSW |
1 |
88,035,189 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0966:Ugt1a6b
|
UTSW |
1 |
88,034,850 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1368:Ugt1a6b
|
UTSW |
1 |
88,035,358 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1542:Ugt1a6b
|
UTSW |
1 |
88,034,983 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3693:Ugt1a6b
|
UTSW |
1 |
88,035,516 (GRCm39) |
missense |
probably benign |
|
|
R4528:Ugt1a6b
|
UTSW |
1 |
88,035,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5206:Ugt1a6b
|
UTSW |
1 |
88,035,170 (GRCm39) |
nonsense |
probably null |
|
|
R5272:Ugt1a6b
|
UTSW |
1 |
88,034,949 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5977:Ugt1a6b
|
UTSW |
1 |
88,143,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6723:Ugt1a6b
|
UTSW |
1 |
88,035,439 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8795:Ugt1a6b
|
UTSW |
1 |
88,034,794 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9557:Ugt1a6b
|
UTSW |
1 |
88,034,820 (GRCm39) |
nonsense |
probably null |
|
|
Z31818:Ugt1a6b
|
UTSW |
1 |
88,034,877 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGGCTGGCCAACTTCATTG -3'
(R):5'- TTCAGCTTCAAGTACACACATCCTC -3'
Sequencing Primer
(F):5'- GGCTGGCCAACTTCATTGTTAAC -3'
(R):5'- CATACTCTGAGCCTGGCATTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation