Incidental Mutation 'R4555:Ugt1a6a'
ID |
341828 |
Institutional Source |
Beutler Lab
|
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 # |
R4555 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
88062531-88146719 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 88066349 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 52
(R52*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108760
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014263]
[ENSMUST00000058237]
[ENSMUST00000073772]
[ENSMUST00000113134]
[ENSMUST00000113135]
[ENSMUST00000113137]
[ENSMUST00000113138]
[ENSMUST00000113142]
[ENSMUST00000173325]
[ENSMUST00000150634]
[ENSMUST00000138182]
[ENSMUST00000140092]
[ENSMUST00000126203]
[ENSMUST00000113139]
|
AlphaFold |
Q64435 |
Predicted Effect |
probably null
Transcript: ENSMUST00000014263
AA Change: R52*
|
SMART Domains |
Protein: ENSMUSP00000014263 Gene: ENSMUSG00000054545 AA Change: R52*
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
AA Change: R52*
|
SMART Domains |
Protein: ENSMUSP00000108759 Gene: ENSMUSG00000054545 AA Change: R52*
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
AA Change: R52*
|
SMART Domains |
Protein: ENSMUSP00000108760 Gene: ENSMUSG00000090124 AA Change: R52*
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: 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: 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: 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: 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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830005F24Rik |
T |
C |
13: 48,667,937 (GRCm39) |
|
probably benign |
Het |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
Afp |
T |
G |
5: 90,654,546 (GRCm39) |
I528S |
possibly damaging |
Het |
Cul9 |
T |
C |
17: 46,812,755 (GRCm39) |
D2407G |
possibly damaging |
Het |
Cyp19a1 |
T |
C |
9: 54,074,105 (GRCm39) |
E483G |
probably damaging |
Het |
Dennd2c |
G |
A |
3: 103,039,202 (GRCm39) |
V117I |
probably benign |
Het |
Inha |
C |
T |
1: 75,486,227 (GRCm39) |
P174L |
possibly damaging |
Het |
Myo15a |
A |
G |
11: 60,387,763 (GRCm39) |
R746G |
probably damaging |
Het |
Ndufaf7 |
T |
C |
17: 79,249,516 (GRCm39) |
S138P |
probably benign |
Het |
Osmr |
T |
C |
15: 6,845,201 (GRCm39) |
Q855R |
possibly damaging |
Het |
Pip4k2a |
C |
T |
2: 18,877,103 (GRCm39) |
D211N |
probably damaging |
Het |
Pitpnm1 |
A |
G |
19: 4,153,085 (GRCm39) |
Q135R |
probably benign |
Het |
Plxna1 |
G |
T |
6: 89,300,310 (GRCm39) |
T1591K |
probably damaging |
Het |
Rdh19 |
T |
A |
10: 127,686,020 (GRCm39) |
L44Q |
probably benign |
Het |
Rom1 |
T |
C |
19: 8,905,380 (GRCm39) |
T267A |
possibly damaging |
Het |
Smad3 |
C |
T |
9: 63,562,070 (GRCm39) |
V108I |
possibly damaging |
Het |
Sptb |
A |
C |
12: 76,659,625 (GRCm39) |
S1092A |
probably benign |
Het |
Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
Tmc5 |
T |
C |
7: 118,269,956 (GRCm39) |
I902T |
probably benign |
Het |
Usp54 |
C |
T |
14: 20,611,090 (GRCm39) |
R1242H |
probably benign |
Het |
Vps16 |
T |
C |
2: 130,285,496 (GRCm39) |
V813A |
probably damaging |
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 |
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 |
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'- CAGGGGTACTCATTGTTGCC -3'
(R):5'- GAACATGTCCACGACAATCATG -3'
Sequencing Primer
(F):5'- GGGTACTCATTGTTGCCTTCCC -3'
(R):5'- ATCATGTTGTTCCTGTACTCTCTTAG -3'
|
Posted On |
2015-09-24 |