Incidental Mutation 'R3055:Ugt2b35'
ID |
265116 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt2b35
|
Ensembl Gene |
ENSMUSG00000035811 |
Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B35 |
Synonyms |
|
MMRRC Submission |
040564-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R3055 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
87148719-87161133 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 87149457 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 236
(Y236F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031186
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031186]
|
AlphaFold |
Q8BJL9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031186
AA Change: Y236F
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000031186 Gene: ENSMUSG00000035811 AA Change: Y236F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
24 |
526 |
1e-253 |
PFAM |
Pfam:Glyco_tran_28_C
|
338 |
449 |
1.9e-8 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200248
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610042L04Rik |
A |
G |
14: 4,348,878 (GRCm38) |
E13G |
probably damaging |
Het |
5730596B20Rik |
A |
T |
6: 52,156,108 (GRCm39) |
|
probably benign |
Het |
Aadacl4fm4 |
A |
G |
4: 144,401,268 (GRCm39) |
I72T |
probably benign |
Het |
Abca16 |
A |
G |
7: 120,035,074 (GRCm39) |
M287V |
probably benign |
Het |
Abca7 |
G |
A |
10: 79,835,581 (GRCm39) |
R283H |
probably damaging |
Het |
Acad11 |
A |
G |
9: 103,953,535 (GRCm39) |
I126V |
probably damaging |
Het |
Ahrr |
A |
G |
13: 74,373,006 (GRCm39) |
V148A |
probably damaging |
Het |
Aldh1l2 |
T |
C |
10: 83,338,336 (GRCm39) |
K528E |
probably benign |
Het |
Atp6v0a2 |
T |
A |
5: 124,765,209 (GRCm39) |
|
probably benign |
Het |
Atxn10 |
A |
G |
15: 85,271,206 (GRCm39) |
D248G |
probably benign |
Het |
Bard1 |
A |
G |
1: 71,127,390 (GRCm39) |
V73A |
possibly damaging |
Het |
Catsper3 |
T |
C |
13: 55,956,709 (GRCm39) |
S376P |
unknown |
Het |
Ccdc150 |
A |
G |
1: 54,328,001 (GRCm39) |
N361S |
possibly damaging |
Het |
Cxcr6 |
A |
T |
9: 123,639,529 (GRCm39) |
I177F |
probably damaging |
Het |
Ddx25 |
A |
G |
9: 35,462,647 (GRCm39) |
V246A |
probably damaging |
Het |
Drd4 |
T |
C |
7: 140,874,392 (GRCm39) |
V319A |
probably damaging |
Het |
Dscam |
G |
A |
16: 96,602,555 (GRCm39) |
T629I |
probably damaging |
Het |
Evi5l |
C |
T |
8: 4,241,603 (GRCm39) |
R311* |
probably null |
Het |
Fxr1 |
A |
G |
3: 34,103,333 (GRCm39) |
E221G |
probably damaging |
Het |
Gldn |
A |
T |
9: 54,245,807 (GRCm39) |
T453S |
probably damaging |
Het |
Ighm |
T |
A |
12: 113,382,596 (GRCm39) |
|
probably benign |
Het |
Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
Lgr5 |
T |
A |
10: 115,302,028 (GRCm39) |
|
probably benign |
Het |
Mier3 |
T |
A |
13: 111,827,837 (GRCm39) |
D7E |
probably damaging |
Het |
Mms19 |
A |
T |
19: 41,938,527 (GRCm39) |
|
probably benign |
Het |
Mrpl20 |
G |
T |
4: 155,888,329 (GRCm39) |
V43F |
possibly damaging |
Het |
Muc5b |
G |
T |
7: 141,417,778 (GRCm39) |
V3575F |
probably damaging |
Het |
Naip5 |
T |
C |
13: 100,358,386 (GRCm39) |
Y950C |
probably benign |
Het |
Or4d2 |
A |
G |
11: 87,784,198 (GRCm39) |
V184A |
possibly damaging |
Het |
Or5t9 |
T |
C |
2: 86,659,471 (GRCm39) |
F125S |
possibly damaging |
Het |
Or8b12b |
G |
T |
9: 37,684,489 (GRCm39) |
C178F |
probably damaging |
Het |
Pkd1l2 |
T |
A |
8: 117,795,054 (GRCm39) |
|
probably null |
Het |
Prune2 |
A |
G |
19: 17,102,407 (GRCm39) |
E2522G |
probably damaging |
Het |
Radil |
T |
C |
5: 142,481,161 (GRCm39) |
T549A |
possibly damaging |
Het |
Radx |
T |
A |
X: 138,412,306 (GRCm39) |
V439E |
possibly damaging |
Het |
Rasa2 |
G |
A |
9: 96,493,526 (GRCm39) |
L53F |
possibly damaging |
Het |
Rasgrf2 |
A |
G |
13: 92,165,583 (GRCm39) |
F306L |
probably damaging |
Het |
Rbm19 |
C |
T |
5: 120,271,075 (GRCm39) |
R633C |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Shfl |
AGAGGAGGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGAGGAGGA |
9: 20,785,013 (GRCm39) |
|
probably benign |
Het |
Slc4a4 |
T |
A |
5: 89,280,366 (GRCm39) |
L353H |
probably damaging |
Het |
Slc4a4 |
T |
C |
5: 89,373,807 (GRCm39) |
V971A |
probably damaging |
Het |
Stil |
T |
A |
4: 114,871,266 (GRCm39) |
|
probably benign |
Het |
Tjp3 |
T |
C |
10: 81,116,341 (GRCm39) |
K251R |
probably benign |
Het |
Utp14b |
T |
A |
1: 78,642,442 (GRCm39) |
D113E |
possibly damaging |
Het |
Vmn1r121 |
G |
A |
7: 20,832,390 (GRCm39) |
Q17* |
probably null |
Het |
Vmn2r28 |
A |
T |
7: 5,484,391 (GRCm39) |
L603Q |
probably damaging |
Het |
Vps13b |
A |
G |
15: 35,646,507 (GRCm39) |
E1537G |
probably damaging |
Het |
Xrcc4 |
T |
C |
13: 90,210,196 (GRCm39) |
T83A |
probably benign |
Het |
Yae1d1 |
T |
C |
13: 18,167,827 (GRCm39) |
E22G |
probably damaging |
Het |
|
Other mutations in Ugt2b35 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00703:Ugt2b35
|
APN |
5 |
87,156,051 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01109:Ugt2b35
|
APN |
5 |
87,156,165 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01586:Ugt2b35
|
APN |
5 |
87,159,250 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02151:Ugt2b35
|
APN |
5 |
87,151,141 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL02225:Ugt2b35
|
APN |
5 |
87,155,264 (GRCm39) |
splice site |
probably benign |
|
IGL02483:Ugt2b35
|
APN |
5 |
87,149,004 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02504:Ugt2b35
|
APN |
5 |
87,149,400 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02690:Ugt2b35
|
APN |
5 |
87,149,096 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02954:Ugt2b35
|
APN |
5 |
87,159,180 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03242:Ugt2b35
|
APN |
5 |
87,155,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R0329:Ugt2b35
|
UTSW |
5 |
87,151,264 (GRCm39) |
missense |
probably null |
0.38 |
R0513:Ugt2b35
|
UTSW |
5 |
87,151,271 (GRCm39) |
splice site |
probably benign |
|
R0571:Ugt2b35
|
UTSW |
5 |
87,148,793 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0827:Ugt2b35
|
UTSW |
5 |
87,155,989 (GRCm39) |
splice site |
probably benign |
|
R1396:Ugt2b35
|
UTSW |
5 |
87,159,389 (GRCm39) |
missense |
possibly damaging |
0.56 |
R1437:Ugt2b35
|
UTSW |
5 |
87,148,890 (GRCm39) |
missense |
probably benign |
0.02 |
R1557:Ugt2b35
|
UTSW |
5 |
87,155,156 (GRCm39) |
splice site |
probably null |
|
R1869:Ugt2b35
|
UTSW |
5 |
87,149,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R1937:Ugt2b35
|
UTSW |
5 |
87,149,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R2067:Ugt2b35
|
UTSW |
5 |
87,149,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R2219:Ugt2b35
|
UTSW |
5 |
87,151,191 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3793:Ugt2b35
|
UTSW |
5 |
87,149,465 (GRCm39) |
missense |
probably benign |
0.15 |
R4452:Ugt2b35
|
UTSW |
5 |
87,151,237 (GRCm39) |
missense |
probably damaging |
0.99 |
R4548:Ugt2b35
|
UTSW |
5 |
87,156,134 (GRCm39) |
nonsense |
probably null |
|
R4902:Ugt2b35
|
UTSW |
5 |
87,151,159 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5311:Ugt2b35
|
UTSW |
5 |
87,159,139 (GRCm39) |
nonsense |
probably null |
|
R6187:Ugt2b35
|
UTSW |
5 |
87,155,181 (GRCm39) |
missense |
probably damaging |
0.98 |
R6332:Ugt2b35
|
UTSW |
5 |
87,149,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R6719:Ugt2b35
|
UTSW |
5 |
87,155,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R7211:Ugt2b35
|
UTSW |
5 |
87,149,177 (GRCm39) |
missense |
probably benign |
0.39 |
R7652:Ugt2b35
|
UTSW |
5 |
87,149,369 (GRCm39) |
missense |
probably damaging |
0.99 |
R7766:Ugt2b35
|
UTSW |
5 |
87,149,061 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7825:Ugt2b35
|
UTSW |
5 |
87,149,218 (GRCm39) |
nonsense |
probably null |
|
R8188:Ugt2b35
|
UTSW |
5 |
87,149,302 (GRCm39) |
missense |
probably damaging |
0.98 |
R8189:Ugt2b35
|
UTSW |
5 |
87,149,302 (GRCm39) |
missense |
probably damaging |
0.98 |
R8191:Ugt2b35
|
UTSW |
5 |
87,149,302 (GRCm39) |
missense |
probably damaging |
0.98 |
R8192:Ugt2b35
|
UTSW |
5 |
87,149,302 (GRCm39) |
missense |
probably damaging |
0.98 |
R8193:Ugt2b35
|
UTSW |
5 |
87,149,302 (GRCm39) |
missense |
probably damaging |
0.98 |
R8220:Ugt2b35
|
UTSW |
5 |
87,149,302 (GRCm39) |
missense |
probably damaging |
0.98 |
R8288:Ugt2b35
|
UTSW |
5 |
87,149,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R8695:Ugt2b35
|
UTSW |
5 |
87,156,064 (GRCm39) |
missense |
probably damaging |
0.97 |
R8898:Ugt2b35
|
UTSW |
5 |
87,159,189 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8924:Ugt2b35
|
UTSW |
5 |
87,152,780 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8944:Ugt2b35
|
UTSW |
5 |
87,149,310 (GRCm39) |
missense |
probably benign |
0.21 |
R9284:Ugt2b35
|
UTSW |
5 |
87,156,140 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGCTACCAAGTTGAAAAGAAC -3'
(R):5'- AAGGCTCATGTAGTGACCATTTAC -3'
Sequencing Primer
(F):5'- AGAACAGTGGAGGATTTGTACTC -3'
(R):5'- CAGGACTGATACCTTCTATTTGAAC -3'
|
Posted On |
2015-02-05 |