Incidental Mutation 'IGL02029:Ugt1a6a'
| ID |
184294 |
| 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: 0.146)
|
| Stock # |
IGL02029
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
88062531-88146719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88066403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 70
(S70P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014263]
[ENSMUST00000058237]
[ENSMUST00000073772]
[ENSMUST00000113134]
[ENSMUST00000113135]
[ENSMUST00000113137]
[ENSMUST00000113138]
[ENSMUST00000113139]
[ENSMUST00000173325]
[ENSMUST00000113142]
[ENSMUST00000138182]
[ENSMUST00000140092]
[ENSMUST00000126203]
[ENSMUST00000150634]
|
| AlphaFold |
Q64435 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014263
AA Change: S70P
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000014263
Gene: ENSMUSG00000054545
AA Change: S70P
| 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 benign
Transcript: ENSMUST00000113134
AA Change: S70P
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108759
Gene: ENSMUSG00000054545
AA Change: S70P
| 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 benign
Transcript: ENSMUST00000113135
AA Change: S70P
PolyPhen 2
Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108760
Gene: ENSMUSG00000090124
AA Change: S70P
| 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: ENSMUST00000173165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124852
|
| 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: 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: 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: 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 |
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap2 |
T |
C |
10: 126,916,152 (GRCm39) |
V221A |
unknown |
Het |
| Akr1c13 |
T |
A |
13: 4,255,361 (GRCm39) |
Y317* |
probably null |
Het |
| Bicd2 |
T |
A |
13: 49,522,975 (GRCm39) |
I30N |
probably damaging |
Het |
| Cadm2 |
G |
T |
16: 66,544,182 (GRCm39) |
N291K |
probably damaging |
Het |
| Ccdc61 |
C |
T |
7: 18,637,423 (GRCm39) |
C68Y |
probably damaging |
Het |
| Ccnl2 |
A |
G |
4: 155,906,319 (GRCm39) |
S351G |
probably benign |
Het |
| Cdcp1 |
A |
G |
9: 123,012,899 (GRCm39) |
|
probably benign |
Het |
| Clhc1 |
T |
C |
11: 29,510,798 (GRCm39) |
S256P |
probably benign |
Het |
| Fam83h |
T |
C |
15: 75,878,287 (GRCm39) |
E37G |
probably damaging |
Het |
| Fancd2 |
C |
T |
6: 113,547,936 (GRCm39) |
L938F |
probably benign |
Het |
| Fbn2 |
G |
T |
18: 58,342,675 (GRCm39) |
A68E |
probably benign |
Het |
| Fcrl1 |
T |
A |
3: 87,283,794 (GRCm39) |
|
probably benign |
Het |
| Ganc |
A |
G |
2: 120,290,338 (GRCm39) |
T892A |
probably benign |
Het |
| Gramd1a |
C |
T |
7: 30,832,249 (GRCm39) |
R596H |
possibly damaging |
Het |
| Limk1 |
A |
T |
5: 134,686,808 (GRCm39) |
Y518* |
probably null |
Het |
| Map1a |
A |
G |
2: 121,133,779 (GRCm39) |
T1294A |
possibly damaging |
Het |
| Marchf3 |
G |
A |
18: 56,940,753 (GRCm39) |
P126S |
probably benign |
Het |
| Ntn5 |
A |
G |
7: 45,336,015 (GRCm39) |
I149V |
probably benign |
Het |
| Nup43 |
T |
C |
10: 7,543,347 (GRCm39) |
F8L |
possibly damaging |
Het |
| Or5b122 |
A |
T |
19: 13,563,468 (GRCm39) |
M267L |
probably benign |
Het |
| Or5be3 |
A |
G |
2: 86,864,245 (GRCm39) |
F107L |
probably benign |
Het |
| P2rx6 |
C |
T |
16: 17,385,959 (GRCm39) |
S236F |
probably benign |
Het |
| Peg10 |
G |
T |
6: 4,754,473 (GRCm39) |
|
probably benign |
Het |
| Runx2 |
T |
A |
17: 44,969,574 (GRCm39) |
R238* |
probably null |
Het |
| Serpinb9d |
A |
T |
13: 33,380,512 (GRCm39) |
I133L |
possibly damaging |
Het |
| Snph |
A |
G |
2: 151,435,527 (GRCm39) |
V434A |
probably damaging |
Het |
| Trp53rkb |
C |
A |
2: 166,637,314 (GRCm39) |
P90Q |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,580,148 (GRCm39) |
E21836* |
probably null |
Het |
| Tut7 |
A |
G |
13: 59,932,702 (GRCm39) |
|
probably benign |
Het |
| Ube3c |
T |
A |
5: 29,824,326 (GRCm39) |
F507I |
probably damaging |
Het |
| Zfp354b |
C |
T |
11: 50,814,664 (GRCm39) |
C87Y |
probably benign |
Het |
| Zfp462 |
G |
T |
4: 55,079,395 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ugt1a6a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00769:Ugt1a6a
|
APN |
1 |
88,066,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation