Incidental Mutation 'R5495:Ugt1a6a'
| ID |
432266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt1a6a
|
| Ensembl Gene |
ENSMUSG00000054545 |
| Gene Name |
UDP glucuronosyltransferase 1 family, polypeptide A6A |
| Synonyms |
Ugt1a6, UGT1.6 |
| MMRRC Submission |
043056-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R5495 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
88062531-88146719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88066746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 184
(Q184L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014263]
[ENSMUST00000058237]
[ENSMUST00000073772]
[ENSMUST00000113134]
[ENSMUST00000113135]
[ENSMUST00000113137]
[ENSMUST00000113138]
[ENSMUST00000113142]
[ENSMUST00000138182]
[ENSMUST00000113139]
[ENSMUST00000173325]
[ENSMUST00000140092]
[ENSMUST00000126203]
[ENSMUST00000150634]
|
| AlphaFold |
Q64435 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014263
AA Change: Q184L
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000014263
Gene: ENSMUSG00000054545
AA Change: Q184L
| 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: Q184L
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000108759
Gene: ENSMUSG00000054545
AA Change: Q184L
| 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: Q184L
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000108760
Gene: ENSMUSG00000090124
AA Change: Q184L
| 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: 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: 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: 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 |
- 1x: 98.4%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt2 |
T |
C |
7: 27,335,594 (GRCm39) |
|
probably null |
Het |
| Arhgap29 |
T |
G |
3: 121,808,578 (GRCm39) |
M844R |
probably damaging |
Het |
| Atp1a1 |
T |
G |
3: 101,498,741 (GRCm39) |
D184A |
probably benign |
Het |
| Bcl11a |
T |
A |
11: 24,115,042 (GRCm39) |
V795E |
possibly damaging |
Het |
| Casp12 |
T |
A |
9: 5,353,797 (GRCm39) |
I277N |
possibly damaging |
Het |
| Ccdc59 |
A |
G |
10: 105,681,239 (GRCm39) |
K164E |
probably damaging |
Het |
| D630003M21Rik |
C |
T |
2: 158,062,431 (GRCm39) |
G30S |
possibly damaging |
Het |
| Dgkd |
A |
G |
1: 87,854,594 (GRCm39) |
D632G |
probably damaging |
Het |
| Efr3a |
A |
G |
15: 65,687,258 (GRCm39) |
K56E |
possibly damaging |
Het |
| Egflam |
T |
A |
15: 7,280,722 (GRCm39) |
R434S |
probably damaging |
Het |
| Fancl |
C |
G |
11: 26,347,801 (GRCm39) |
A51G |
probably damaging |
Het |
| Fkbp7 |
T |
C |
2: 76,493,638 (GRCm39) |
Y185C |
probably damaging |
Het |
| Galc |
A |
G |
12: 98,197,673 (GRCm39) |
|
probably null |
Het |
| Galnt15 |
A |
G |
14: 31,751,774 (GRCm39) |
S109G |
probably damaging |
Het |
| Gramd2b |
T |
C |
18: 56,615,694 (GRCm39) |
I163T |
probably damaging |
Het |
| Impa1 |
A |
G |
3: 10,391,230 (GRCm39) |
V80A |
probably benign |
Het |
| Itga10 |
T |
C |
3: 96,554,687 (GRCm39) |
M56T |
possibly damaging |
Het |
| Larp1b |
G |
T |
3: 40,990,257 (GRCm39) |
R135I |
probably damaging |
Het |
| Lgals12 |
C |
T |
19: 7,581,495 (GRCm39) |
A71T |
probably damaging |
Het |
| Lmbr1 |
A |
T |
5: 29,551,851 (GRCm39) |
L78* |
probably null |
Het |
| Lrat |
C |
A |
3: 82,804,289 (GRCm39) |
M229I |
probably benign |
Het |
| Mug2 |
A |
T |
6: 122,056,609 (GRCm39) |
M1185L |
probably damaging |
Het |
| Naprt |
T |
C |
15: 75,765,696 (GRCm39) |
|
probably null |
Het |
| Nfat5 |
A |
G |
8: 108,095,079 (GRCm39) |
I1107V |
probably benign |
Het |
| Nr4a2 |
T |
C |
2: 57,002,387 (GRCm39) |
Y22C |
probably damaging |
Het |
| Ogfod1 |
C |
A |
8: 94,790,906 (GRCm39) |
Q526K |
probably benign |
Het |
| Or2d4 |
C |
A |
7: 106,543,699 (GRCm39) |
G170* |
probably null |
Het |
| Or3a10 |
G |
A |
11: 73,935,611 (GRCm39) |
T163I |
probably damaging |
Het |
| Or4p21 |
T |
C |
2: 88,276,401 (GRCm39) |
T294A |
probably benign |
Het |
| Or8g36 |
T |
C |
9: 39,422,441 (GRCm39) |
T192A |
probably benign |
Het |
| Parp10 |
T |
G |
15: 76,127,366 (GRCm39) |
I24L |
probably benign |
Het |
| Pcdha11 |
A |
G |
18: 37,144,079 (GRCm39) |
T57A |
probably benign |
Het |
| Prdm8 |
A |
G |
5: 98,333,165 (GRCm39) |
E244G |
possibly damaging |
Het |
| Prl6a1 |
T |
C |
13: 27,496,654 (GRCm39) |
S3P |
possibly damaging |
Het |
| Rab11fip3 |
T |
A |
17: 26,235,117 (GRCm39) |
T18S |
probably damaging |
Het |
| Rfc4 |
T |
C |
16: 22,941,004 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
G |
T |
14: 75,279,777 (GRCm39) |
V387F |
possibly damaging |
Het |
| S100a7l2 |
A |
T |
3: 90,997,602 (GRCm39) |
L38M |
possibly damaging |
Het |
| Serpinb12 |
T |
C |
1: 106,884,151 (GRCm39) |
L299P |
probably damaging |
Het |
| Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
| Taar4 |
A |
T |
10: 23,837,181 (GRCm39) |
I264F |
possibly damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 129,523,570 (GRCm39) |
H124Q |
probably damaging |
Het |
| Vnn1 |
T |
A |
10: 23,774,462 (GRCm39) |
F168L |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,468,670 (GRCm39) |
L267P |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,772,354 (GRCm39) |
S1621G |
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 |
|
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 |
|
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'- TTTTCCAACTGCCAGAGCC -3'
(R):5'- TCGTACCGTAACAGCCACAG -3'
Sequencing Primer
(F):5'- ACTGCCAGAGCCTCCTGAAG -3'
(R):5'- AAGGTAGGGACACATCTCTCTTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation