Incidental Mutation 'IGL00769:Ugt1a6a'
| ID |
14701 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ugt1a6a
|
| Ensembl Gene |
ENSMUSG00000054545 |
| Gene Name |
UDP glucuronosyltransferase 1 family, polypeptide A6A |
| Synonyms |
Ugt1a6, UGT1.6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
IGL00769
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
88062531-88146719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 88066772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 193
(P193S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014263]
[ENSMUST00000058237]
[ENSMUST00000073772]
[ENSMUST00000113134]
[ENSMUST00000113135]
[ENSMUST00000113137]
[ENSMUST00000113138]
[ENSMUST00000126203]
[ENSMUST00000138182]
[ENSMUST00000113139]
[ENSMUST00000150634]
[ENSMUST00000113142]
[ENSMUST00000173325]
[ENSMUST00000140092]
|
| AlphaFold |
Q64435 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014263
AA Change: P193S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000014263
Gene: ENSMUSG00000054545
AA Change: P193S
| 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: 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 damaging
Transcript: ENSMUST00000113134
AA Change: P193S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108759
Gene: ENSMUSG00000054545
AA Change: P193S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
27 |
522 |
2.7e-232 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
361 |
450 |
4.5e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113135
AA Change: P193S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108760
Gene: ENSMUSG00000090124
AA Change: P193S
| 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
|
| SMART Domains |
Protein: ENSMUSP00000108762
Gene: ENSMUSG00000090145
| 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
|
| SMART Domains |
Protein: ENSMUSP00000108763
Gene: ENSMUSG00000090145
| 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 |
noncoding transcript
Transcript: ENSMUST00000124852
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173165
|
| 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: 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: 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: 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 |
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: 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: ENSMUST00000140092
|
| SMART Domains |
Protein: ENSMUSP00000115642
Gene: ENSMUSG00000054545
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UDPGT
|
1 |
166 |
9.3e-98 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
96 |
166 |
4.9e-9 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
A |
G |
11: 48,839,039 (GRCm39) |
V516A |
possibly damaging |
Het |
| Ambp |
G |
A |
4: 63,062,402 (GRCm39) |
T279I |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,465,322 (GRCm39) |
V285A |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,536,352 (GRCm39) |
S220P |
probably benign |
Het |
| Atp9b |
G |
T |
18: 80,956,068 (GRCm39) |
H129N |
probably benign |
Het |
| Cdh10 |
C |
A |
15: 18,985,185 (GRCm39) |
P283Q |
possibly damaging |
Het |
| Cep295 |
A |
G |
9: 15,237,440 (GRCm39) |
S1941P |
probably damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,684,230 (GRCm39) |
S575R |
probably damaging |
Het |
| Dock11 |
A |
G |
X: 35,267,715 (GRCm39) |
N796S |
possibly damaging |
Het |
| Enam |
A |
T |
5: 88,649,343 (GRCm39) |
Y284F |
possibly damaging |
Het |
| F8 |
A |
T |
X: 74,377,786 (GRCm39) |
|
probably benign |
Het |
| Fbxo42 |
C |
T |
4: 140,907,760 (GRCm39) |
T140M |
probably damaging |
Het |
| Galnt13 |
G |
A |
2: 54,770,116 (GRCm39) |
E303K |
probably benign |
Het |
| Minar2 |
T |
C |
18: 59,205,349 (GRCm39) |
S88P |
probably damaging |
Het |
| Mrgprb4 |
T |
A |
7: 47,848,649 (GRCm39) |
D93V |
probably benign |
Het |
| Msl3 |
T |
A |
X: 167,451,744 (GRCm39) |
E215V |
probably damaging |
Het |
| Pglyrp3 |
A |
T |
3: 91,921,929 (GRCm39) |
|
probably benign |
Het |
| Prdx1 |
G |
A |
4: 116,550,162 (GRCm39) |
D115N |
probably benign |
Het |
| Psd3 |
A |
T |
8: 68,361,331 (GRCm39) |
|
probably benign |
Het |
| Rundc1 |
A |
G |
11: 101,325,100 (GRCm39) |
D602G |
probably damaging |
Het |
| Slc4a1ap |
T |
G |
5: 31,711,121 (GRCm39) |
Y742D |
probably damaging |
Het |
| Spmap1 |
A |
G |
11: 97,662,407 (GRCm39) |
F155S |
probably damaging |
Het |
| Vmn2r96 |
G |
A |
17: 18,804,081 (GRCm39) |
V252M |
probably benign |
Het |
| Wdr53 |
G |
A |
16: 32,075,315 (GRCm39) |
W173* |
probably null |
Het |
|
| Other mutations in Ugt1a6a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02029:Ugt1a6a
|
APN |
1 |
88,066,403 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02059:Ugt1a6a
|
APN |
1 |
88,066,403 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02553:Ugt1a6a
|
APN |
1 |
88,066,811 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0164:Ugt1a6a
|
UTSW |
1 |
88,066,992 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0609:Ugt1a6a
|
UTSW |
1 |
88,066,606 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1055:Ugt1a6a
|
UTSW |
1 |
88,066,736 (GRCm39) |
missense |
probably benign |
|
|
R1994:Ugt1a6a
|
UTSW |
1 |
88,066,470 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3747:Ugt1a6a
|
UTSW |
1 |
88,066,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3822:Ugt1a6a
|
UTSW |
1 |
88,066,251 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4084:Ugt1a6a
|
UTSW |
1 |
88,066,899 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4153:Ugt1a6a
|
UTSW |
1 |
88,066,193 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4343:Ugt1a6a
|
UTSW |
1 |
88,066,248 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4495:Ugt1a6a
|
UTSW |
1 |
88,066,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4555:Ugt1a6a
|
UTSW |
1 |
88,066,349 (GRCm39) |
nonsense |
probably null |
|
|
R4600:Ugt1a6a
|
UTSW |
1 |
88,066,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4631:Ugt1a6a
|
UTSW |
1 |
88,066,980 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4676:Ugt1a6a
|
UTSW |
1 |
88,067,007 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5495:Ugt1a6a
|
UTSW |
1 |
88,066,746 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5903:Ugt1a6a
|
UTSW |
1 |
88,142,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5958:Ugt1a6a
|
UTSW |
1 |
88,143,510 (GRCm39) |
splice site |
probably benign |
|
|
R8077:Ugt1a6a
|
UTSW |
1 |
88,066,575 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8711:Ugt1a6a
|
UTSW |
1 |
88,066,590 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8899:Ugt1a6a
|
UTSW |
1 |
88,066,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9225:Ugt1a6a
|
UTSW |
1 |
88,066,560 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9401:Ugt1a6a
|
UTSW |
1 |
88,066,882 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation