Incidental Mutation 'R5516:Ugt2b38'
ID |
431274 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt2b38
|
Ensembl Gene |
ENSMUSG00000061906 |
Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B38 |
Synonyms |
9430041C03Rik |
MMRRC Submission |
043075-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R5516 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
87557801-87572062 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87559702 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 397
(F397L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072598
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072818]
|
AlphaFold |
Q91WH2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072818
AA Change: F397L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000072598 Gene: ENSMUSG00000061906 AA Change: F397L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
24 |
527 |
4.1e-255 |
PFAM |
Pfam:Glyco_tran_28_C
|
330 |
444 |
1.2e-7 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.2%
- 20x: 90.4%
|
Validation Efficiency |
97% (58/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
T |
C |
10: 10,306,901 (GRCm39) |
K334R |
probably damaging |
Het |
Aldh1l1 |
A |
T |
6: 90,573,927 (GRCm39) |
I809F |
possibly damaging |
Het |
Bmp2k |
T |
A |
5: 97,235,312 (GRCm39) |
|
probably benign |
Het |
C1qtnf9 |
T |
A |
14: 61,017,198 (GRCm39) |
C243S |
probably damaging |
Het |
Cacna1c |
G |
A |
6: 119,034,179 (GRCm39) |
A146V |
probably damaging |
Het |
Ccdc85c |
A |
G |
12: 108,174,109 (GRCm39) |
V353A |
probably damaging |
Het |
Cd300ld2 |
G |
T |
11: 114,903,270 (GRCm39) |
|
probably benign |
Het |
Cd320 |
A |
G |
17: 34,067,021 (GRCm39) |
Q170R |
possibly damaging |
Het |
Cfap43 |
C |
T |
19: 47,726,648 (GRCm39) |
|
probably null |
Het |
Chid1 |
A |
G |
7: 141,076,059 (GRCm39) |
S365P |
probably damaging |
Het |
Chrna7 |
T |
G |
7: 62,749,046 (GRCm39) |
T479P |
probably damaging |
Het |
Clasp1 |
G |
T |
1: 118,425,451 (GRCm39) |
R35L |
probably damaging |
Het |
Cluh |
G |
A |
11: 74,551,270 (GRCm39) |
R373H |
probably damaging |
Het |
Cyp2b23 |
G |
A |
7: 26,372,482 (GRCm39) |
R378* |
probably null |
Het |
Cyp2d9 |
T |
G |
15: 82,338,528 (GRCm39) |
N136K |
probably null |
Het |
Efcab5 |
A |
T |
11: 77,079,615 (GRCm39) |
S44T |
possibly damaging |
Het |
Esrrg |
A |
T |
1: 187,930,927 (GRCm39) |
L316F |
possibly damaging |
Het |
Fam222a |
T |
C |
5: 114,749,889 (GRCm39) |
Y362H |
probably damaging |
Het |
Fat3 |
A |
G |
9: 15,910,005 (GRCm39) |
V1999A |
probably damaging |
Het |
Fes |
A |
T |
7: 80,036,931 (GRCm39) |
M51K |
probably damaging |
Het |
Fmo3 |
T |
A |
1: 162,781,995 (GRCm39) |
K453* |
probably null |
Het |
Galnt1 |
A |
G |
18: 24,413,074 (GRCm39) |
N458S |
probably benign |
Het |
Gm8888 |
T |
A |
15: 96,664,855 (GRCm39) |
|
noncoding transcript |
Het |
Gpn2 |
G |
A |
4: 133,312,190 (GRCm39) |
|
probably null |
Het |
Grm4 |
G |
A |
17: 27,657,385 (GRCm39) |
T464I |
probably benign |
Het |
Insr |
T |
A |
8: 3,205,764 (GRCm39) |
K1342* |
probably null |
Het |
Krt87 |
T |
A |
15: 101,385,002 (GRCm39) |
K365* |
probably null |
Het |
Lfng |
T |
C |
5: 140,599,018 (GRCm39) |
L309P |
probably damaging |
Het |
Lnpk |
T |
C |
2: 74,378,132 (GRCm39) |
|
probably benign |
Het |
Lrrc8e |
A |
C |
8: 4,285,818 (GRCm39) |
D681A |
probably damaging |
Het |
Lyst |
G |
A |
13: 13,818,707 (GRCm39) |
D1326N |
probably benign |
Het |
Mmp27 |
A |
G |
9: 7,579,063 (GRCm39) |
R413G |
probably null |
Het |
Nags |
C |
T |
11: 102,036,773 (GRCm39) |
Q121* |
probably null |
Het |
Nectin1 |
A |
G |
9: 43,715,090 (GRCm39) |
E442G |
probably benign |
Het |
Nek1 |
G |
C |
8: 61,542,523 (GRCm39) |
A729P |
probably benign |
Het |
Or51a24 |
A |
G |
7: 103,733,444 (GRCm39) |
I281T |
possibly damaging |
Het |
Pnp2 |
C |
T |
14: 51,201,195 (GRCm39) |
A189V |
probably benign |
Het |
Ppm1m |
T |
A |
9: 106,075,138 (GRCm39) |
I136F |
probably damaging |
Het |
Pramel21 |
A |
G |
4: 143,342,253 (GRCm39) |
Q120R |
possibly damaging |
Het |
Psg17 |
G |
T |
7: 18,548,458 (GRCm39) |
Q438K |
probably benign |
Het |
Ptprk |
C |
T |
10: 28,372,926 (GRCm39) |
R726* |
probably null |
Het |
Rab3gap2 |
A |
T |
1: 184,967,684 (GRCm39) |
Y163F |
probably benign |
Het |
Scrib |
A |
T |
15: 75,934,712 (GRCm39) |
L627Q |
possibly damaging |
Het |
Tcp1 |
A |
G |
17: 13,143,221 (GRCm39) |
K510R |
probably damaging |
Het |
Tle4 |
A |
T |
19: 14,432,253 (GRCm39) |
I481N |
probably damaging |
Het |
Tmem43 |
G |
T |
6: 91,455,192 (GRCm39) |
R56L |
possibly damaging |
Het |
Trmt10a |
T |
C |
3: 137,857,957 (GRCm39) |
I168T |
possibly damaging |
Het |
Trpv1 |
A |
T |
11: 73,136,809 (GRCm39) |
Y96F |
probably benign |
Het |
Tshz3 |
C |
T |
7: 36,469,775 (GRCm39) |
T588I |
probably benign |
Het |
Vmn2r11 |
A |
G |
5: 109,195,032 (GRCm39) |
S765P |
probably damaging |
Het |
Zfp668 |
A |
G |
7: 127,466,318 (GRCm39) |
F289L |
probably damaging |
Het |
Zfp735 |
A |
G |
11: 73,601,640 (GRCm39) |
T195A |
probably benign |
Het |
Zscan10 |
A |
G |
17: 23,828,333 (GRCm39) |
T182A |
possibly damaging |
Het |
|
Other mutations in Ugt2b38 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00959:Ugt2b38
|
APN |
5 |
87,559,682 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02326:Ugt2b38
|
APN |
5 |
87,571,592 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02537:Ugt2b38
|
APN |
5 |
87,569,590 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02543:Ugt2b38
|
APN |
5 |
87,571,342 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02852:Ugt2b38
|
APN |
5 |
87,559,600 (GRCm39) |
missense |
probably benign |
|
IGL03008:Ugt2b38
|
APN |
5 |
87,560,282 (GRCm39) |
missense |
probably benign |
0.00 |
over_easy
|
UTSW |
5 |
87,571,601 (GRCm39) |
missense |
probably benign |
0.25 |
R0089:Ugt2b38
|
UTSW |
5 |
87,568,417 (GRCm39) |
missense |
probably benign |
0.00 |
R0647:Ugt2b38
|
UTSW |
5 |
87,571,328 (GRCm39) |
missense |
probably benign |
0.00 |
R0731:Ugt2b38
|
UTSW |
5 |
87,568,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R0837:Ugt2b38
|
UTSW |
5 |
87,559,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R0966:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R0969:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R0970:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R0971:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1068:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1070:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1071:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1073:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1133:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1134:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1367:Ugt2b38
|
UTSW |
5 |
87,571,973 (GRCm39) |
missense |
probably benign |
0.11 |
R1383:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1467:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1467:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1565:Ugt2b38
|
UTSW |
5 |
87,559,773 (GRCm39) |
missense |
probably damaging |
0.99 |
R1691:Ugt2b38
|
UTSW |
5 |
87,571,991 (GRCm39) |
missense |
probably benign |
|
R1725:Ugt2b38
|
UTSW |
5 |
87,559,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R1736:Ugt2b38
|
UTSW |
5 |
87,571,492 (GRCm39) |
missense |
probably benign |
|
R2230:Ugt2b38
|
UTSW |
5 |
87,569,527 (GRCm39) |
missense |
probably benign |
0.05 |
R2419:Ugt2b38
|
UTSW |
5 |
87,571,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R2496:Ugt2b38
|
UTSW |
5 |
87,569,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R3196:Ugt2b38
|
UTSW |
5 |
87,558,078 (GRCm39) |
missense |
probably damaging |
0.96 |
R3773:Ugt2b38
|
UTSW |
5 |
87,571,954 (GRCm39) |
missense |
probably damaging |
0.99 |
R5125:Ugt2b38
|
UTSW |
5 |
87,559,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R5224:Ugt2b38
|
UTSW |
5 |
87,571,601 (GRCm39) |
missense |
probably benign |
0.25 |
R5765:Ugt2b38
|
UTSW |
5 |
87,571,954 (GRCm39) |
missense |
probably damaging |
0.99 |
R6352:Ugt2b38
|
UTSW |
5 |
87,571,860 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7166:Ugt2b38
|
UTSW |
5 |
87,558,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R7210:Ugt2b38
|
UTSW |
5 |
87,558,284 (GRCm39) |
missense |
probably damaging |
0.99 |
R7291:Ugt2b38
|
UTSW |
5 |
87,559,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R7483:Ugt2b38
|
UTSW |
5 |
87,571,973 (GRCm39) |
missense |
probably damaging |
0.96 |
R7969:Ugt2b38
|
UTSW |
5 |
87,571,891 (GRCm39) |
missense |
probably benign |
0.02 |
R8118:Ugt2b38
|
UTSW |
5 |
87,571,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R8239:Ugt2b38
|
UTSW |
5 |
87,571,659 (GRCm39) |
missense |
probably benign |
0.02 |
R8676:Ugt2b38
|
UTSW |
5 |
87,559,681 (GRCm39) |
missense |
probably benign |
0.12 |
R9178:Ugt2b38
|
UTSW |
5 |
87,568,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R9193:Ugt2b38
|
UTSW |
5 |
87,571,729 (GRCm39) |
missense |
probably benign |
0.05 |
R9566:Ugt2b38
|
UTSW |
5 |
87,558,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAATCATGCCCTAATGTATCTCTG -3'
(R):5'- CTGAGACAGAGAAATATTTCAGTGG -3'
Sequencing Primer
(F):5'- TGTTTGGCTTTCAGTAAGAAGAC -3'
(R):5'- CATCTTCTTCTAGGTCATCCAA -3'
|
Posted On |
2016-10-05 |