Incidental Mutation 'R4528:Ugt1a6b'
ID |
332974 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt1a6b
|
Ensembl Gene |
ENSMUSG00000090145 |
Gene Name |
UDP glucuronosyltransferase 1 family, polypeptide A6B |
Synonyms |
A9' |
MMRRC Submission |
041769-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
R4528 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
88030979-88146720 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 88035301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 213
(I213N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108763
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058237]
[ENSMUST00000073772]
[ENSMUST00000113135]
[ENSMUST00000113137]
[ENSMUST00000113138]
[ENSMUST00000113139]
[ENSMUST00000150634]
[ENSMUST00000138182]
[ENSMUST00000126203]
[ENSMUST00000173325]
[ENSMUST00000113142]
|
AlphaFold |
K9J7B2 |
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: 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 damaging
Transcript: ENSMUST00000113137
AA Change: I213N
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108762 Gene: ENSMUSG00000090145 AA Change: I213N
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 damaging
Transcript: ENSMUST00000113138
AA Change: I213N
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108763 Gene: ENSMUSG00000090145 AA Change: I213N
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000173165
|
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: 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: 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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atm |
A |
T |
9: 53,412,059 (GRCm39) |
I999K |
probably benign |
Het |
Camsap3 |
A |
G |
8: 3,656,515 (GRCm39) |
E535G |
possibly damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cenpu |
G |
T |
8: 47,015,457 (GRCm39) |
G34* |
probably null |
Het |
Col7a1 |
C |
A |
9: 108,788,601 (GRCm39) |
A739D |
unknown |
Het |
Coro1b |
T |
C |
19: 4,199,980 (GRCm39) |
V107A |
probably benign |
Het |
Cpeb3 |
T |
C |
19: 37,116,488 (GRCm39) |
D381G |
possibly damaging |
Het |
Cyp2a22 |
T |
C |
7: 26,634,194 (GRCm39) |
D320G |
possibly damaging |
Het |
Dcaf1 |
A |
T |
9: 106,721,403 (GRCm39) |
K398N |
probably damaging |
Het |
Etfa |
A |
G |
9: 55,407,334 (GRCm39) |
S52P |
probably damaging |
Het |
Fat4 |
T |
A |
3: 38,945,443 (GRCm39) |
H1445Q |
probably benign |
Het |
Foxred2 |
T |
A |
15: 77,827,449 (GRCm39) |
M637L |
probably benign |
Het |
Gbe1 |
A |
T |
16: 70,275,225 (GRCm39) |
I342L |
probably benign |
Het |
Gm14410 |
A |
T |
2: 176,885,736 (GRCm39) |
I176K |
probably benign |
Het |
Gm14410 |
G |
T |
2: 176,885,734 (GRCm39) |
H177N |
probably damaging |
Het |
Gm1527 |
T |
A |
3: 28,968,542 (GRCm39) |
M198K |
probably damaging |
Het |
Hr |
T |
C |
14: 70,803,823 (GRCm39) |
L838P |
probably damaging |
Het |
Kmt2e |
T |
C |
5: 23,678,556 (GRCm39) |
S212P |
possibly damaging |
Het |
Lims1 |
T |
C |
10: 58,245,882 (GRCm39) |
C180R |
probably damaging |
Het |
Mki67 |
A |
T |
7: 135,297,088 (GRCm39) |
S2649T |
probably damaging |
Het |
Or10x1 |
T |
A |
1: 174,196,822 (GRCm39) |
L113H |
probably damaging |
Het |
Or4f57 |
T |
C |
2: 111,791,293 (GRCm39) |
N42D |
probably damaging |
Het |
Or51t4 |
A |
G |
7: 102,598,013 (GRCm39) |
M104V |
probably damaging |
Het |
Pde4dip |
C |
T |
3: 97,624,338 (GRCm39) |
E1399K |
probably damaging |
Het |
Pex1 |
T |
C |
5: 3,681,712 (GRCm39) |
Y1053H |
probably damaging |
Het |
Plscr2 |
G |
A |
9: 92,171,746 (GRCm39) |
E113K |
possibly damaging |
Het |
Pus1 |
T |
C |
5: 110,922,596 (GRCm39) |
Y309C |
probably damaging |
Het |
Scube3 |
T |
A |
17: 28,381,973 (GRCm39) |
V333D |
possibly damaging |
Het |
Serpina11 |
A |
T |
12: 103,952,592 (GRCm39) |
N66K |
probably benign |
Het |
Thtpa |
T |
A |
14: 55,333,039 (GRCm39) |
D41E |
probably damaging |
Het |
Timm10b |
A |
G |
7: 105,332,013 (GRCm39) |
N828S |
probably benign |
Het |
Tlr12 |
A |
C |
4: 128,511,818 (GRCm39) |
L144R |
probably damaging |
Het |
Uba7 |
A |
G |
9: 107,861,102 (GRCm39) |
E964G |
possibly damaging |
Het |
Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
Zbtb43 |
A |
G |
2: 33,352,337 (GRCm39) |
|
probably benign |
Het |
Zfp985 |
A |
T |
4: 147,667,347 (GRCm39) |
I72F |
possibly damaging |
Het |
Zfpm1 |
G |
A |
8: 123,062,381 (GRCm39) |
R480H |
probably benign |
Het |
|
Other mutations in Ugt1a6b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00980:Ugt1a6b
|
APN |
1 |
88,035,327 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL00990:Ugt1a6b
|
APN |
1 |
88,142,900 (GRCm39) |
splice site |
probably null |
|
IGL02139:Ugt1a6b
|
APN |
1 |
88,035,527 (GRCm39) |
intron |
probably benign |
|
PIT4131001:Ugt1a6b
|
UTSW |
1 |
88,146,112 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4131001:Ugt1a6b
|
UTSW |
1 |
88,143,976 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4131001:Ugt1a6b
|
UTSW |
1 |
88,143,880 (GRCm39) |
small deletion |
probably benign |
|
R0164:Ugt1a6b
|
UTSW |
1 |
88,035,189 (GRCm39) |
missense |
probably damaging |
0.99 |
R0966:Ugt1a6b
|
UTSW |
1 |
88,034,850 (GRCm39) |
missense |
probably benign |
0.04 |
R1368:Ugt1a6b
|
UTSW |
1 |
88,035,358 (GRCm39) |
missense |
probably benign |
0.08 |
R1542:Ugt1a6b
|
UTSW |
1 |
88,034,983 (GRCm39) |
missense |
probably benign |
0.04 |
R3693:Ugt1a6b
|
UTSW |
1 |
88,035,516 (GRCm39) |
missense |
probably benign |
|
R5206:Ugt1a6b
|
UTSW |
1 |
88,035,170 (GRCm39) |
nonsense |
probably null |
|
R5272:Ugt1a6b
|
UTSW |
1 |
88,034,949 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5977:Ugt1a6b
|
UTSW |
1 |
88,143,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R6640:Ugt1a6b
|
UTSW |
1 |
88,035,516 (GRCm39) |
missense |
probably benign |
|
R6723:Ugt1a6b
|
UTSW |
1 |
88,035,439 (GRCm39) |
missense |
probably benign |
0.15 |
R8795:Ugt1a6b
|
UTSW |
1 |
88,034,794 (GRCm39) |
missense |
probably benign |
0.00 |
R9557:Ugt1a6b
|
UTSW |
1 |
88,034,820 (GRCm39) |
nonsense |
probably null |
|
Z31818:Ugt1a6b
|
UTSW |
1 |
88,034,877 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGAGAACAAGTTTGATGCTC -3'
(R):5'- CCCTCCAATGAAGATCATGTTGG -3'
Sequencing Primer
(F):5'- CAAGTTTGATGCTCTGTTCACAG -3'
(R):5'- GGCATGATTGGCCTGGGATATTC -3'
|
Posted On |
2015-08-18 |