Incidental Mutation 'R4397:Ugt1a1'
| ID |
325518 |
| 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 |
041685-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.801)
|
| Stock # |
R4397 (G1)
|
| Quality Score |
217 |
|
Status
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
96% (55/57) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg4 |
T |
G |
X: 55,977,703 (GRCm39) |
L2193V |
probably damaging |
Het |
| Agap2 |
G |
A |
10: 126,926,352 (GRCm39) |
A866T |
unknown |
Het |
| Aig1 |
A |
C |
10: 13,528,726 (GRCm39) |
S237A |
probably benign |
Het |
| Baz1b |
C |
T |
5: 135,273,300 (GRCm39) |
R1475W |
probably damaging |
Het |
| Bmp1 |
C |
T |
14: 70,727,982 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
A |
G |
16: 59,380,458 (GRCm39) |
|
probably benign |
Het |
| Dnajc15 |
T |
C |
14: 78,112,234 (GRCm39) |
|
probably null |
Het |
| Fam135b |
T |
A |
15: 71,320,525 (GRCm39) |
H1334L |
probably benign |
Het |
| Fancg |
A |
T |
4: 43,008,897 (GRCm39) |
H113Q |
probably benign |
Het |
| Gfap |
G |
A |
11: 102,787,810 (GRCm39) |
A45V |
probably benign |
Het |
| Gjd3 |
A |
T |
11: 98,873,247 (GRCm39) |
L199Q |
probably damaging |
Het |
| Gvin-ps3 |
A |
G |
7: 105,682,130 (GRCm39) |
|
noncoding transcript |
Het |
| H13 |
A |
G |
2: 152,519,472 (GRCm39) |
D65G |
probably damaging |
Het |
| Hcls1 |
T |
C |
16: 36,757,662 (GRCm39) |
V5A |
possibly damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Iqgap3 |
T |
C |
3: 88,011,665 (GRCm39) |
Y817H |
probably damaging |
Het |
| Iqsec2 |
C |
T |
X: 150,992,049 (GRCm39) |
T562I |
probably damaging |
Het |
| Klb |
A |
G |
5: 65,537,382 (GRCm39) |
Y904C |
probably damaging |
Het |
| Kremen1 |
A |
T |
11: 5,149,610 (GRCm39) |
S354T |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,821,964 (GRCm39) |
E1304G |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,342,015 (GRCm39) |
V1876A |
probably benign |
Het |
| Magi3 |
T |
C |
3: 104,127,030 (GRCm39) |
T85A |
probably damaging |
Het |
| Map3k12 |
C |
T |
15: 102,409,694 (GRCm39) |
A694T |
probably benign |
Het |
| Mex3b |
T |
C |
7: 82,519,031 (GRCm39) |
S449P |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nars2 |
T |
C |
7: 96,622,771 (GRCm39) |
|
probably null |
Het |
| Nlrp1a |
T |
G |
11: 70,988,030 (GRCm39) |
M1046L |
probably benign |
Het |
| Nphs1 |
T |
G |
7: 30,181,390 (GRCm39) |
|
probably null |
Het |
| Nup133 |
G |
A |
8: 124,671,040 (GRCm39) |
T119M |
probably benign |
Het |
| Or6c201 |
G |
T |
10: 128,969,450 (GRCm39) |
N62K |
possibly damaging |
Het |
| Pcdhga9 |
A |
T |
18: 37,871,694 (GRCm39) |
I508F |
probably damaging |
Het |
| Phactr3 |
A |
G |
2: 177,817,199 (GRCm39) |
|
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,943,193 (GRCm39) |
K155E |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Prss38 |
T |
C |
11: 59,263,854 (GRCm39) |
Y286C |
probably damaging |
Het |
| Psg16 |
T |
C |
7: 16,824,623 (GRCm39) |
S45P |
possibly damaging |
Het |
| Ptpn21 |
G |
T |
12: 98,654,507 (GRCm39) |
P820Q |
probably damaging |
Het |
| Ptpn21 |
A |
G |
12: 98,681,319 (GRCm39) |
V105A |
probably damaging |
Het |
| Rnf7 |
A |
G |
9: 96,360,463 (GRCm39) |
M58T |
probably benign |
Het |
| Slc25a11 |
G |
A |
11: 70,535,677 (GRCm39) |
A287V |
probably benign |
Het |
| Slit2 |
G |
T |
5: 48,377,423 (GRCm39) |
|
probably null |
Het |
| Suco |
A |
G |
1: 161,672,421 (GRCm39) |
Y460H |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,897,636 (GRCm39) |
Q804* |
probably null |
Het |
| Trpv6 |
A |
G |
6: 41,602,172 (GRCm39) |
I379T |
possibly damaging |
Het |
| Virma |
A |
G |
4: 11,513,901 (GRCm39) |
E585G |
possibly damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,655,435 (GRCm39) |
D549V |
probably damaging |
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 |
|
|
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 |
|
|
R6464: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 |
PCR Primer
(F):5'- GGAGTAGCTGTCAGTTCAATTG -3'
(R):5'- ATGACCACAACTTCGTGCCC -3'
Sequencing Primer
(F):5'- TGCTGTTATTTGTTAAGGAACTCAG -3'
(R):5'- CTTCTGCTGGAGCTGCTGAATAAC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation