Incidental Mutation 'R4548:Ugt2b35'
ID |
333861 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt2b35
|
Ensembl Gene |
ENSMUSG00000035811 |
Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B35 |
Synonyms |
|
MMRRC Submission |
041594-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R4548 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
87148719-87161133 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 87156134 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 409
(K409*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031186
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031186]
|
AlphaFold |
Q8BJL9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031186
AA Change: K409*
|
SMART Domains |
Protein: ENSMUSP00000031186 Gene: ENSMUSG00000035811 AA Change: K409*
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
T |
17: 24,553,245 (GRCm39) |
F155L |
possibly damaging |
Het |
Adcy6 |
A |
G |
15: 98,496,540 (GRCm39) |
I545T |
probably damaging |
Het |
Afg2a |
T |
A |
3: 37,486,176 (GRCm39) |
N299K |
probably benign |
Het |
Akip1 |
C |
A |
7: 109,304,193 (GRCm39) |
S90* |
probably null |
Het |
Anln |
T |
C |
9: 22,274,184 (GRCm39) |
D551G |
possibly damaging |
Het |
Arhgef17 |
T |
C |
7: 100,580,336 (GRCm39) |
Q204R |
possibly damaging |
Het |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Bcl2l11 |
A |
G |
2: 127,971,566 (GRCm39) |
E75G |
probably benign |
Het |
Cfap45 |
A |
G |
1: 172,372,675 (GRCm39) |
I457V |
probably benign |
Het |
Cfap65 |
G |
A |
1: 74,946,771 (GRCm39) |
T1313I |
probably damaging |
Het |
Cntln |
C |
A |
4: 85,015,079 (GRCm39) |
H1123Q |
probably benign |
Het |
Cops3 |
C |
T |
11: 59,718,671 (GRCm39) |
|
probably null |
Het |
Dis3l2 |
A |
T |
1: 86,977,393 (GRCm39) |
T861S |
probably benign |
Het |
Dnajc11 |
A |
G |
4: 152,058,074 (GRCm39) |
N281S |
possibly damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
Fras1 |
A |
G |
5: 96,857,754 (GRCm39) |
D2016G |
probably benign |
Het |
Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
Greb1 |
T |
C |
12: 16,749,676 (GRCm39) |
D1050G |
probably damaging |
Het |
Kcnh6 |
T |
C |
11: 105,899,875 (GRCm39) |
F48S |
probably damaging |
Het |
Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
Mrm2 |
T |
C |
5: 140,314,251 (GRCm39) |
T195A |
probably benign |
Het |
Myzap |
T |
C |
9: 71,457,528 (GRCm39) |
E289G |
possibly damaging |
Het |
Nemp1 |
A |
G |
10: 127,532,213 (GRCm39) |
E373G |
probably benign |
Het |
Or13c7 |
T |
A |
4: 43,854,834 (GRCm39) |
I175N |
probably damaging |
Het |
Or8h10 |
T |
C |
2: 86,809,014 (GRCm39) |
N42S |
probably damaging |
Het |
Polr1c |
A |
T |
17: 46,558,735 (GRCm39) |
|
probably null |
Het |
Rev1 |
A |
G |
1: 38,098,275 (GRCm39) |
M756T |
possibly damaging |
Het |
Sacs |
A |
G |
14: 61,429,387 (GRCm39) |
D482G |
probably damaging |
Het |
Sfrp4 |
A |
G |
13: 19,807,936 (GRCm39) |
M112V |
possibly damaging |
Het |
Slc7a4 |
T |
C |
16: 17,393,209 (GRCm39) |
T197A |
probably benign |
Het |
Snx27 |
C |
T |
3: 94,433,746 (GRCm39) |
|
probably benign |
Het |
Speer2 |
T |
C |
16: 69,655,737 (GRCm39) |
K30E |
probably damaging |
Het |
Ssh2 |
G |
A |
11: 77,341,010 (GRCm39) |
A721T |
probably benign |
Het |
Trappc3 |
A |
G |
4: 126,166,544 (GRCm39) |
D39G |
possibly damaging |
Het |
Ttc28 |
G |
A |
5: 111,419,090 (GRCm39) |
S1362N |
possibly damaging |
Het |
Vmn2r92 |
A |
T |
17: 18,391,578 (GRCm39) |
M527L |
probably benign |
Het |
Zbed5 |
T |
A |
5: 129,931,692 (GRCm39) |
L547* |
probably null |
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 |
R3055:Ugt2b35
|
UTSW |
5 |
87,149,457 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
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'- GCTCTGAGAGAGGAAAATATTTCAG -3'
(R):5'- ACTTGCTCATTTGTCCTTCAGTAAG -3'
Sequencing Primer
(F):5'- CGTTACAGATGATTGTGAGCCACC -3'
(R):5'- TTCAGTAAGAAGGCCAATGACTG -3'
|
Posted On |
2015-08-18 |