Incidental Mutation 'R6221:Ugt1a5'
| ID |
503990 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt1a5
|
| Ensembl Gene |
ENSMUSG00000089943 |
| Gene Name |
UDP glucuronosyltransferase 1 family, polypeptide A5 |
| Synonyms |
|
| MMRRC Submission |
044432-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R6221 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
88093734-88146719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 88093964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 64
(R64H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014263]
[ENSMUST00000058237]
[ENSMUST00000073772]
[ENSMUST00000097659]
[ENSMUST00000113134]
[ENSMUST00000113135]
[ENSMUST00000113137]
[ENSMUST00000150634]
[ENSMUST00000138182]
[ENSMUST00000113139]
[ENSMUST00000126203]
[ENSMUST00000140092]
[ENSMUST00000113138]
[ENSMUST00000113142]
[ENSMUST00000173325]
|
| AlphaFold |
B2RT14 |
| 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: 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: ENSMUST00000097659
AA Change: R64H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095263
Gene: ENSMUSG00000089943
AA Change: R64H
| 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 |
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: 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000124852
|
| 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: 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: 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: 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 |
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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
99% (66/67) |
| 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. This enzyme has some glucuronidase activity towards bilirubin, although is is more active on amines, steroids, and sapogenins. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,824,874 (GRCm39) |
M108V |
probably benign |
Het |
| Adgrl1 |
C |
T |
8: 84,664,316 (GRCm39) |
Q1236* |
probably null |
Het |
| Adprhl1 |
T |
C |
8: 13,275,634 (GRCm39) |
I375V |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,982,765 (GRCm39) |
S3663P |
unknown |
Het |
| Cfap44 |
A |
T |
16: 44,257,549 (GRCm39) |
Q1028L |
probably benign |
Het |
| Cftr |
A |
C |
6: 18,282,500 (GRCm39) |
T1067P |
probably benign |
Het |
| Col1a2 |
T |
C |
6: 4,539,490 (GRCm39) |
S1253P |
unknown |
Het |
| Dkk3 |
A |
G |
7: 111,720,853 (GRCm39) |
Y158H |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,004,799 (GRCm39) |
Y949C |
probably damaging |
Het |
| E130311K13Rik |
T |
C |
3: 63,823,152 (GRCm39) |
Y164C |
probably benign |
Het |
| Evx1 |
T |
A |
6: 52,293,768 (GRCm39) |
V312E |
probably damaging |
Het |
| Fam240b |
T |
C |
13: 64,629,591 (GRCm39) |
N75S |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,186,898 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
G |
T |
2: 125,162,841 (GRCm39) |
D2148E |
probably benign |
Het |
| Fzd4 |
A |
G |
7: 89,054,100 (GRCm39) |
H69R |
probably damaging |
Het |
| Fzd6 |
T |
C |
15: 38,894,239 (GRCm39) |
V135A |
probably benign |
Het |
| Gimap8 |
T |
C |
6: 48,635,876 (GRCm39) |
L547S |
probably damaging |
Het |
| Gnrhr |
G |
A |
5: 86,333,262 (GRCm39) |
Q203* |
probably null |
Het |
| Gpaa1 |
T |
G |
15: 76,218,032 (GRCm39) |
V341G |
probably benign |
Het |
| Grik3 |
T |
A |
4: 125,598,916 (GRCm39) |
L828Q |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,074,383 (GRCm39) |
N1568S |
probably benign |
Het |
| Hpf1 |
T |
A |
8: 61,346,808 (GRCm39) |
V41E |
probably damaging |
Het |
| Hsd3b1 |
A |
T |
3: 98,760,472 (GRCm39) |
M173K |
probably benign |
Het |
| Hsd3b6 |
A |
G |
3: 98,713,849 (GRCm39) |
I150T |
probably benign |
Het |
| Ica1 |
C |
G |
6: 8,644,181 (GRCm39) |
L369F |
possibly damaging |
Het |
| Inf2 |
T |
G |
12: 112,570,179 (GRCm39) |
S293A |
possibly damaging |
Het |
| Klra10 |
T |
C |
6: 130,246,235 (GRCm39) |
T247A |
probably benign |
Het |
| Kpna1 |
G |
A |
16: 35,841,058 (GRCm39) |
G91D |
probably benign |
Het |
| Ldlrap1 |
C |
T |
4: 134,484,671 (GRCm39) |
E108K |
probably damaging |
Het |
| Ltb4r2 |
C |
T |
14: 55,999,540 (GRCm39) |
R54W |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,299,643 (GRCm39) |
F1797S |
probably benign |
Het |
| Mlh3 |
C |
A |
12: 85,315,192 (GRCm39) |
Q331H |
possibly damaging |
Het |
| Nol11 |
G |
T |
11: 107,062,442 (GRCm39) |
T598K |
possibly damaging |
Het |
| Odad1 |
T |
C |
7: 45,596,903 (GRCm39) |
L410P |
probably damaging |
Het |
| Or5b124 |
T |
A |
19: 13,610,830 (GRCm39) |
Y118* |
probably null |
Het |
| Oxct2b |
T |
C |
4: 123,010,601 (GRCm39) |
Y174H |
probably damaging |
Het |
| Pakap |
C |
T |
4: 57,855,618 (GRCm39) |
Q559* |
probably null |
Het |
| Pclo |
G |
A |
5: 14,725,327 (GRCm39) |
R1395Q |
unknown |
Het |
| Ppara |
A |
G |
15: 85,661,881 (GRCm39) |
I41V |
probably benign |
Het |
| Ppip5k2 |
A |
T |
1: 97,657,753 (GRCm39) |
I766K |
probably damaging |
Het |
| Ppm1j |
A |
G |
3: 104,693,092 (GRCm39) |
N483S |
possibly damaging |
Het |
| Prex2 |
T |
C |
1: 11,336,236 (GRCm39) |
I1478T |
probably benign |
Het |
| Ror2 |
T |
C |
13: 53,267,253 (GRCm39) |
Y394C |
probably damaging |
Het |
| Rsl1d1 |
A |
G |
16: 11,019,175 (GRCm39) |
V121A |
probably damaging |
Het |
| Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
| Slc15a1 |
T |
C |
14: 121,702,316 (GRCm39) |
Q610R |
probably null |
Het |
| Slc1a6 |
A |
G |
10: 78,635,910 (GRCm39) |
E325G |
probably damaging |
Het |
| Slc7a13 |
A |
G |
4: 19,839,305 (GRCm39) |
I303V |
probably benign |
Het |
| Smc3 |
T |
A |
19: 53,630,362 (GRCm39) |
V1123E |
probably damaging |
Het |
| Smco1 |
G |
A |
16: 32,092,023 (GRCm39) |
V34I |
probably benign |
Het |
| Spag1 |
A |
G |
15: 36,197,949 (GRCm39) |
R304G |
probably benign |
Het |
| Spata31f1e |
A |
T |
4: 42,793,153 (GRCm39) |
N326K |
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,009,342 (GRCm39) |
D293G |
probably damaging |
Het |
| Sspo |
C |
A |
6: 48,440,639 (GRCm39) |
P1751Q |
probably damaging |
Het |
| Syt14 |
A |
T |
1: 192,612,908 (GRCm39) |
Y631N |
probably damaging |
Het |
| Taar3 |
A |
G |
10: 23,825,970 (GRCm39) |
N172S |
possibly damaging |
Het |
| Tank |
A |
G |
2: 61,480,427 (GRCm39) |
E321G |
probably damaging |
Het |
| Tcstv5 |
T |
G |
13: 120,411,534 (GRCm39) |
H24P |
probably damaging |
Het |
| Thbs1 |
C |
A |
2: 117,950,478 (GRCm39) |
L704M |
probably damaging |
Het |
| Tmem116 |
C |
T |
5: 121,629,171 (GRCm39) |
T188M |
probably benign |
Het |
| Togaram1 |
A |
T |
12: 65,013,320 (GRCm39) |
E190D |
probably damaging |
Het |
| Traf1 |
A |
C |
2: 34,838,313 (GRCm39) |
V175G |
probably benign |
Het |
| Trib3 |
A |
T |
2: 152,180,528 (GRCm39) |
C222S |
probably damaging |
Het |
| Tsen34 |
T |
A |
7: 3,698,543 (GRCm39) |
I229N |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,419,114 (GRCm39) |
D1370G |
probably benign |
Het |
| Vdac2 |
G |
A |
14: 21,895,246 (GRCm39) |
G265R |
possibly damaging |
Het |
| Vdac3 |
A |
G |
8: 23,078,759 (GRCm39) |
V17A |
possibly damaging |
Het |
| Yif1b |
C |
T |
7: 28,945,207 (GRCm39) |
T220I |
possibly damaging |
Het |
| Zfp846 |
T |
G |
9: 20,504,591 (GRCm39) |
H150Q |
possibly damaging |
Het |
| Zwilch |
A |
T |
9: 64,068,665 (GRCm39) |
H181Q |
probably damaging |
Het |
|
| Other mutations in Ugt1a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Ugt1a5
|
APN |
1 |
88,094,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01918:Ugt1a5
|
APN |
1 |
88,094,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02972:Ugt1a5
|
APN |
1 |
88,094,144 (GRCm39) |
missense |
probably benign |
|
|
IGL03293:Ugt1a5
|
APN |
1 |
88,094,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03294:Ugt1a5
|
APN |
1 |
88,094,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1635:Ugt1a5
|
UTSW |
1 |
88,093,805 (GRCm39) |
intron |
probably benign |
|
|
R4643:Ugt1a5
|
UTSW |
1 |
88,094,147 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5016:Ugt1a5
|
UTSW |
1 |
88,093,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5026:Ugt1a5
|
UTSW |
1 |
88,093,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5561:Ugt1a5
|
UTSW |
1 |
88,094,039 (GRCm39) |
missense |
probably benign |
|
|
R7051:Ugt1a5
|
UTSW |
1 |
88,094,077 (GRCm39) |
missense |
probably benign |
|
|
R7278:Ugt1a5
|
UTSW |
1 |
88,094,608 (GRCm39) |
nonsense |
probably null |
|
|
R7440:Ugt1a5
|
UTSW |
1 |
88,094,281 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7743:Ugt1a5
|
UTSW |
1 |
88,094,117 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8093:Ugt1a5
|
UTSW |
1 |
88,094,304 (GRCm39) |
nonsense |
probably null |
|
|
R8704:Ugt1a5
|
UTSW |
1 |
88,094,087 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9640:Ugt1a5
|
UTSW |
1 |
88,094,098 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
X0009:Ugt1a5
|
UTSW |
1 |
88,093,820 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTGACTATGGGACTCCGC -3'
(R):5'- AGGGACTCGTTGTGCAATATATTTG -3'
Sequencing Primer
(F):5'- CATGCCCCTACAAGGATTAGTGG -3'
(R):5'- GTACAAGTCTTTAAGAGAACGGTTG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation