Incidental Mutation 'R6464:Ugt1a1'
ID |
543475 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt1a1
|
Ensembl Gene |
ENSMUSG00000089960 |
Gene Name |
UDP glucuronosyltransferase 1 family, polypeptide A1 |
Synonyms |
Udpgt-1a, UgtBr1, UGT1A01, Gnt1 |
MMRRC Submission |
044597-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.801)
|
Stock # |
R6464 (G1)
|
Quality Score |
217.468 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
88139681-88146719 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
CAGAGAGAGAGAGA to CAGAGAGAGAGA
at 88139706 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134443
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014263]
[ENSMUST00000049289]
[ENSMUST00000058237]
[ENSMUST00000073049]
[ENSMUST00000073772]
[ENSMUST00000097659]
[ENSMUST00000113134]
[ENSMUST00000113135]
[ENSMUST00000150634]
[ENSMUST00000113139]
[ENSMUST00000173325]
[ENSMUST00000140092]
[ENSMUST00000126203]
[ENSMUST00000113142]
[ENSMUST00000138182]
[ENSMUST00000113137]
[ENSMUST00000113138]
|
AlphaFold |
Q63886 |
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: ENSMUST00000049289
|
SMART Domains |
Protein: ENSMUSP00000037258 Gene: ENSMUSG00000090171
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
28 |
524 |
2.2e-247 |
PFAM |
Pfam:Glyco_tran_28_C
|
363 |
452 |
4.5e-9 |
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: ENSMUST00000073049
|
SMART Domains |
Protein: ENSMUSP00000072803 Gene: ENSMUSG00000089960
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
30 |
526 |
5.8e-241 |
PFAM |
Pfam:Glyco_tran_28_C
|
365 |
454 |
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: ENSMUST00000097659
|
SMART Domains |
Protein: ENSMUSP00000095263 Gene: ENSMUSG00000089943
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
25 |
520 |
6.7e-246 |
PFAM |
Pfam:Glyco_tran_28_C
|
359 |
448 |
1.3e-9 |
PFAM |
|
Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000174821
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124852
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173165
|
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 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: 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: 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: 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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
100% (48/48) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
T |
A |
16: 14,265,354 (GRCm39) |
S769T |
probably damaging |
Het |
Apoe |
G |
A |
7: 19,431,461 (GRCm39) |
T52M |
probably damaging |
Het |
Arhgef10l |
A |
C |
4: 140,314,126 (GRCm39) |
M230R |
probably benign |
Het |
Cdkl4 |
A |
T |
17: 80,832,781 (GRCm39) |
I321N |
probably benign |
Het |
Ceacam5 |
T |
C |
7: 17,481,391 (GRCm39) |
|
probably null |
Het |
Cfap70 |
T |
C |
14: 20,451,107 (GRCm39) |
|
probably null |
Het |
Clasp2 |
A |
G |
9: 113,602,785 (GRCm39) |
Y195C |
probably damaging |
Het |
Clip2 |
T |
C |
5: 134,520,779 (GRCm39) |
I999V |
probably benign |
Het |
Cntnap5a |
A |
G |
1: 116,112,138 (GRCm39) |
D476G |
probably benign |
Het |
Col6a6 |
C |
T |
9: 105,666,152 (GRCm39) |
M1I |
probably null |
Het |
Cyp27a1 |
T |
C |
1: 74,775,047 (GRCm39) |
V292A |
possibly damaging |
Het |
Cyp2c29 |
A |
G |
19: 39,317,669 (GRCm39) |
Y385C |
probably damaging |
Het |
Dsg3 |
A |
C |
18: 20,666,583 (GRCm39) |
R597S |
probably benign |
Het |
Fam131c |
T |
C |
4: 141,109,653 (GRCm39) |
I95T |
probably damaging |
Het |
Fam13b |
A |
T |
18: 34,606,684 (GRCm39) |
C302* |
probably null |
Het |
Fkbp15 |
T |
C |
4: 62,226,315 (GRCm39) |
K745E |
possibly damaging |
Het |
Flg |
T |
A |
3: 93,188,688 (GRCm39) |
|
probably benign |
Het |
Gm11559 |
T |
C |
11: 99,755,542 (GRCm39) |
C64R |
unknown |
Het |
Helt |
T |
C |
8: 46,745,571 (GRCm39) |
D104G |
probably damaging |
Het |
Helz2 |
T |
C |
2: 180,876,862 (GRCm39) |
T1211A |
probably benign |
Het |
Ifna9 |
T |
C |
4: 88,510,487 (GRCm39) |
R46G |
possibly damaging |
Het |
Kif20b |
G |
A |
19: 34,911,841 (GRCm39) |
V235I |
probably benign |
Het |
Kif7 |
A |
G |
7: 79,363,842 (GRCm39) |
V22A |
possibly damaging |
Het |
Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
Lipf |
A |
T |
19: 33,950,944 (GRCm39) |
Y305F |
probably benign |
Het |
Lpar1 |
A |
G |
4: 58,486,875 (GRCm39) |
L132P |
possibly damaging |
Het |
Magi1 |
A |
T |
6: 93,676,770 (GRCm39) |
V834E |
probably damaging |
Het |
Meltf |
T |
C |
16: 31,709,594 (GRCm39) |
Y432H |
probably benign |
Het |
Mroh2a |
G |
C |
1: 88,185,524 (GRCm39) |
E1510D |
probably damaging |
Het |
Myo1f |
T |
C |
17: 33,795,621 (GRCm39) |
L59P |
probably damaging |
Het |
Naa25 |
G |
A |
5: 121,556,024 (GRCm39) |
D271N |
probably damaging |
Het |
Or10ag55-ps1 |
A |
T |
2: 87,139,951 (GRCm39) |
I273F |
probably damaging |
Het |
Or8u3-ps |
A |
T |
2: 85,952,752 (GRCm39) |
I162F |
possibly damaging |
Het |
Otoa |
A |
G |
7: 120,701,828 (GRCm39) |
Q169R |
probably damaging |
Het |
Pde4dip |
C |
T |
3: 97,617,660 (GRCm39) |
D1723N |
probably damaging |
Het |
Ptdss2 |
T |
C |
7: 140,732,124 (GRCm39) |
V175A |
probably damaging |
Het |
Rdh8 |
G |
T |
9: 20,734,696 (GRCm39) |
R121L |
probably damaging |
Het |
Rpl23 |
T |
C |
11: 97,669,111 (GRCm39) |
|
probably null |
Het |
Scn5a |
T |
C |
9: 119,363,646 (GRCm39) |
D498G |
probably damaging |
Het |
Slc39a14 |
G |
C |
14: 70,544,177 (GRCm39) |
L470V |
probably damaging |
Het |
Smok2a |
C |
T |
17: 13,445,317 (GRCm39) |
A298V |
probably damaging |
Het |
Tesk2 |
A |
C |
4: 116,660,046 (GRCm39) |
D388A |
probably damaging |
Het |
Tnik |
G |
A |
3: 28,666,119 (GRCm39) |
|
probably null |
Het |
Ube3a |
T |
A |
7: 58,925,931 (GRCm39) |
Y236* |
probably null |
Het |
Vinac1 |
T |
C |
2: 128,881,465 (GRCm39) |
T154A |
possibly damaging |
Het |
Vmn1r74 |
A |
T |
7: 11,581,131 (GRCm39) |
I144L |
possibly damaging |
Het |
Vmn2r1 |
G |
A |
3: 64,008,766 (GRCm39) |
D482N |
probably benign |
Het |
Vwf |
T |
C |
6: 125,616,363 (GRCm39) |
|
probably null |
Het |
Wdr97 |
A |
G |
15: 76,246,977 (GRCm39) |
T1413A |
probably benign |
Het |
Zfp703 |
C |
G |
8: 27,469,355 (GRCm39) |
P340A |
probably damaging |
Het |
Znfx1 |
T |
C |
2: 166,888,842 (GRCm39) |
S789G |
probably benign |
Het |
|
Other mutations in Ugt1a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02984:Ugt1a1
|
UTSW |
1 |
88,140,093 (GRCm39) |
frame shift |
probably null |
|
IGL03055:Ugt1a1
|
UTSW |
1 |
88,140,093 (GRCm39) |
frame shift |
probably null |
|
IGL03134:Ugt1a1
|
UTSW |
1 |
88,140,093 (GRCm39) |
frame shift |
probably null |
|
IGL03138:Ugt1a1
|
UTSW |
1 |
88,140,093 (GRCm39) |
frame shift |
probably null |
|
IGL03147:Ugt1a1
|
UTSW |
1 |
88,140,093 (GRCm39) |
frame shift |
probably null |
|
R0196:Ugt1a1
|
UTSW |
1 |
88,140,277 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0398:Ugt1a1
|
UTSW |
1 |
88,140,093 (GRCm39) |
frame shift |
probably null |
|
R0442:Ugt1a1
|
UTSW |
1 |
88,140,093 (GRCm39) |
frame shift |
probably null |
|
R2871:Ugt1a1
|
UTSW |
1 |
88,140,093 (GRCm39) |
frame shift |
probably null |
|
R2872:Ugt1a1
|
UTSW |
1 |
88,140,093 (GRCm39) |
frame shift |
probably null |
|
R4391:Ugt1a1
|
UTSW |
1 |
88,139,706 (GRCm39) |
intron |
probably benign |
|
R4392:Ugt1a1
|
UTSW |
1 |
88,139,706 (GRCm39) |
intron |
probably benign |
|
R4393:Ugt1a1
|
UTSW |
1 |
88,139,706 (GRCm39) |
intron |
probably benign |
|
R4394:Ugt1a1
|
UTSW |
1 |
88,139,706 (GRCm39) |
intron |
probably benign |
|
R4397:Ugt1a1
|
UTSW |
1 |
88,139,706 (GRCm39) |
intron |
probably benign |
|
R4402:Ugt1a1
|
UTSW |
1 |
88,139,706 (GRCm39) |
intron |
probably benign |
|
R4664:Ugt1a1
|
UTSW |
1 |
88,139,706 (GRCm39) |
intron |
probably benign |
|
R4665:Ugt1a1
|
UTSW |
1 |
88,139,706 (GRCm39) |
intron |
probably benign |
|
R4947:Ugt1a1
|
UTSW |
1 |
88,139,706 (GRCm39) |
intron |
probably benign |
|
R4961:Ugt1a1
|
UTSW |
1 |
88,139,706 (GRCm39) |
intron |
probably benign |
|
R4986:Ugt1a1
|
UTSW |
1 |
88,139,706 (GRCm39) |
intron |
probably benign |
|
R5052:Ugt1a1
|
UTSW |
1 |
88,139,706 (GRCm39) |
intron |
probably benign |
|
R6618:Ugt1a1
|
UTSW |
1 |
88,139,706 (GRCm39) |
intron |
probably benign |
|
R8215:Ugt1a1
|
UTSW |
1 |
88,139,706 (GRCm39) |
intron |
probably benign |
|
R8243:Ugt1a1
|
UTSW |
1 |
88,139,706 (GRCm39) |
intron |
probably benign |
|
Z1188:Ugt1a1
|
UTSW |
1 |
88,139,706 (GRCm39) |
intron |
probably benign |
|
Z1190:Ugt1a1
|
UTSW |
1 |
88,139,706 (GRCm39) |
intron |
probably benign |
|
|
Predicted Primers |
|
Posted On |
2019-01-11 |