Incidental Mutation 'R4153:Ugt1a6a'
| ID |
314978 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt1a6a
|
| Ensembl Gene |
ENSMUSG00000054545 |
| Gene Name |
UDP glucuronosyltransferase 1 family, polypeptide A6A |
| Synonyms |
Ugt1a6, UGT1.6 |
| MMRRC Submission |
040997-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R4153 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
88062531-88146719 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 88066193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014263]
[ENSMUST00000058237]
[ENSMUST00000073772]
[ENSMUST00000113134]
[ENSMUST00000113134]
[ENSMUST00000113134]
[ENSMUST00000113135]
[ENSMUST00000113135]
[ENSMUST00000113135]
[ENSMUST00000113137]
[ENSMUST00000113138]
[ENSMUST00000173325]
[ENSMUST00000150634]
[ENSMUST00000113142]
[ENSMUST00000140092]
[ENSMUST00000138182]
[ENSMUST00000126203]
[ENSMUST00000113139]
|
| AlphaFold |
Q64435 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014263
|
| SMART Domains |
Protein: ENSMUSP00000014263
Gene: ENSMUSG00000054545
| 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 null
Transcript: ENSMUST00000113134
|
| SMART Domains |
Protein: ENSMUSP00000108759
Gene: ENSMUSG00000054545
| 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 null
Transcript: ENSMUST00000113134
|
| SMART Domains |
Protein: ENSMUSP00000108759
Gene: ENSMUSG00000054545
| 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 null
Transcript: ENSMUST00000113134
|
| SMART Domains |
Protein: ENSMUSP00000108759
Gene: ENSMUSG00000054545
| 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 null
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 null
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 null
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
|
| 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: 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: 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: 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: 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: 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: 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
96% (53/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,341,292 (GRCm39) |
V47A |
probably benign |
Het |
| 4932414N04Rik |
A |
T |
2: 68,498,941 (GRCm39) |
|
probably benign |
Het |
| Acat2 |
T |
A |
17: 13,171,153 (GRCm39) |
H159L |
possibly damaging |
Het |
| Acsl5 |
A |
G |
19: 55,269,895 (GRCm39) |
E253G |
probably benign |
Het |
| Adam34l |
T |
A |
8: 44,079,564 (GRCm39) |
Y220F |
probably benign |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Ebf2 |
T |
G |
14: 67,472,672 (GRCm39) |
V30G |
probably damaging |
Het |
| Erlin1 |
T |
A |
19: 44,056,056 (GRCm39) |
T60S |
probably benign |
Het |
| Fanca |
A |
G |
8: 124,031,617 (GRCm39) |
V358A |
possibly damaging |
Het |
| Fastkd3 |
T |
C |
13: 68,738,257 (GRCm39) |
F602S |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,924,594 (GRCm39) |
N3678K |
probably benign |
Het |
| Gopc |
T |
C |
10: 52,225,239 (GRCm39) |
I277V |
probably damaging |
Het |
| Gpd2 |
A |
G |
2: 57,245,783 (GRCm39) |
T438A |
probably damaging |
Het |
| Gzma |
T |
C |
13: 113,232,802 (GRCm39) |
K97E |
possibly damaging |
Het |
| Gzmn |
T |
A |
14: 56,405,299 (GRCm39) |
T62S |
probably damaging |
Het |
| Hip1 |
T |
C |
5: 135,441,560 (GRCm39) |
E570G |
probably damaging |
Het |
| Hs3st6 |
T |
C |
17: 24,977,339 (GRCm39) |
V273A |
possibly damaging |
Het |
| Jarid2 |
C |
A |
13: 45,063,902 (GRCm39) |
S873R |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Mast2 |
T |
C |
4: 116,173,160 (GRCm39) |
N548S |
possibly damaging |
Het |
| Mthfr |
G |
T |
4: 148,135,932 (GRCm39) |
R335L |
probably damaging |
Het |
| Ndst3 |
T |
C |
3: 123,465,876 (GRCm39) |
Y32C |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,408,564 (GRCm39) |
L808P |
probably damaging |
Het |
| Or52b1 |
T |
C |
7: 104,978,592 (GRCm39) |
N269S |
probably damaging |
Het |
| Or56a3b |
A |
T |
7: 104,771,516 (GRCm39) |
H284L |
probably damaging |
Het |
| Or8g52 |
A |
C |
9: 39,631,296 (GRCm39) |
M258L |
probably benign |
Het |
| Pgk2 |
A |
G |
17: 40,519,149 (GRCm39) |
V93A |
probably damaging |
Het |
| Pigk |
G |
A |
3: 152,445,766 (GRCm39) |
V126I |
probably damaging |
Het |
| Plcl2 |
A |
T |
17: 50,913,389 (GRCm39) |
K133* |
probably null |
Het |
| Pofut2 |
A |
G |
10: 77,104,500 (GRCm39) |
K426E |
probably benign |
Het |
| Rbpj |
T |
A |
5: 53,806,789 (GRCm39) |
H230Q |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,300,308 (GRCm39) |
K269E |
probably benign |
Het |
| Shh |
A |
T |
5: 28,662,947 (GRCm39) |
I407N |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,653,569 (GRCm39) |
|
probably null |
Het |
| Svep1 |
A |
T |
4: 58,089,426 (GRCm39) |
F1661Y |
possibly damaging |
Het |
| Tep1 |
G |
A |
14: 51,075,051 (GRCm39) |
H1755Y |
possibly damaging |
Het |
| Thrap3 |
A |
C |
4: 126,067,235 (GRCm39) |
|
probably null |
Het |
| Thumpd1 |
C |
T |
7: 119,319,816 (GRCm39) |
C50Y |
probably damaging |
Het |
| Tmem131 |
T |
C |
1: 36,847,874 (GRCm39) |
|
probably benign |
Het |
| Tnrc18 |
T |
C |
5: 142,751,747 (GRCm39) |
D1368G |
possibly damaging |
Het |
| Tubd1 |
G |
A |
11: 86,440,296 (GRCm39) |
G107S |
probably damaging |
Het |
| Uty |
A |
G |
Y: 1,158,327 (GRCm39) |
V572A |
possibly damaging |
Het |
| Vmn1r171 |
A |
G |
7: 23,332,077 (GRCm39) |
K89E |
probably damaging |
Het |
| Vmn2r100 |
AAAACAGGAGTATTGATTGGAAAC |
AAAAC |
17: 19,743,681 (GRCm39) |
|
probably null |
Het |
| Vmn2r106 |
A |
G |
17: 20,488,080 (GRCm39) |
L773P |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,792,173 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATAGGCTACACAGAGTCAGC -3'
(R):5'- CTCCCAAAAGCAAATTGACTTCTG -3'
Sequencing Primer
(F):5'- GCTACACAGAGTCAGCCACCTG -3'
(R):5'- GACTTCTGGCACTAGGACCATAATG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation