Incidental Mutation 'R5311:Ugt2b35'
| ID |
404843 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt2b35
|
| Ensembl Gene |
ENSMUSG00000035811 |
| Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B35 |
| Synonyms |
|
| MMRRC Submission |
042894-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R5311 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
87148719-87161133 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 87159139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 444
(W444*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031186]
|
| AlphaFold |
Q8BJL9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031186
AA Change: W444*
|
| SMART Domains |
Protein: ENSMUSP00000031186
Gene: ENSMUSG00000035811
AA Change: W444*
| 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: ENSMUST00000199020
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5z1 |
A |
G |
5: 142,453,442 (GRCm39) |
K137E |
possibly damaging |
Het |
| Atm |
A |
C |
9: 53,429,923 (GRCm39) |
V371G |
probably benign |
Het |
| Cacna2d3 |
A |
G |
14: 29,068,987 (GRCm39) |
Y247H |
probably damaging |
Het |
| Ccdc180 |
T |
C |
4: 45,917,556 (GRCm39) |
V927A |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Edar |
G |
A |
10: 58,443,257 (GRCm39) |
P290S |
possibly damaging |
Het |
| Ext2 |
T |
C |
2: 93,526,606 (GRCm39) |
I677V |
probably benign |
Het |
| Fam53a |
A |
G |
5: 33,765,080 (GRCm39) |
S209P |
probably damaging |
Het |
| Fshr |
A |
T |
17: 89,318,441 (GRCm39) |
|
probably null |
Het |
| Gfm2 |
G |
A |
13: 97,299,659 (GRCm39) |
A406T |
probably damaging |
Het |
| Gm14295 |
A |
T |
2: 176,502,465 (GRCm39) |
I652L |
probably benign |
Het |
| Gm14403 |
AAACCCTA |
AA |
2: 177,201,448 (GRCm39) |
|
probably benign |
Het |
| Gm5431 |
T |
A |
11: 48,779,716 (GRCm39) |
E402V |
probably damaging |
Het |
| Gm6899 |
GGAGGCCGCCCAGTGGCAGAGGCCGCCCAGTGGCAGAGGC |
GGAGGCCGCCCAGTGGCAGAGGC |
11: 26,543,725 (GRCm39) |
|
probably null |
Het |
| Itih2 |
T |
C |
2: 10,115,346 (GRCm39) |
D342G |
probably benign |
Het |
| Lgi2 |
A |
T |
5: 52,711,827 (GRCm39) |
D164E |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,050,448 (GRCm39) |
I768T |
probably damaging |
Het |
| Map1a |
C |
A |
2: 121,132,868 (GRCm39) |
A990E |
probably damaging |
Het |
| Mdh1b |
A |
G |
1: 63,759,163 (GRCm39) |
V143A |
probably benign |
Het |
| Mrgprb3 |
C |
T |
7: 48,293,059 (GRCm39) |
C164Y |
probably damaging |
Het |
| Mtpap |
T |
A |
18: 4,386,328 (GRCm39) |
V316E |
probably damaging |
Het |
| Mybpc3 |
T |
A |
2: 90,959,023 (GRCm39) |
C655* |
probably null |
Het |
| Myh15 |
A |
G |
16: 48,986,204 (GRCm39) |
E1558G |
possibly damaging |
Het |
| Mylk |
A |
G |
16: 34,742,127 (GRCm39) |
T880A |
probably benign |
Het |
| Nckap1 |
T |
A |
2: 80,370,466 (GRCm39) |
D408V |
probably damaging |
Het |
| Nos3 |
A |
T |
5: 24,582,343 (GRCm39) |
H605L |
probably benign |
Het |
| Nrxn2 |
C |
A |
19: 6,581,428 (GRCm39) |
D411E |
probably benign |
Het |
| Or1af1 |
T |
C |
2: 37,109,633 (GRCm39) |
V44A |
probably benign |
Het |
| Or8j3b |
T |
A |
2: 86,205,094 (GRCm39) |
I221L |
possibly damaging |
Het |
| Pde4d |
C |
A |
13: 109,769,398 (GRCm39) |
P29T |
probably benign |
Het |
| Pde4d |
C |
T |
13: 109,769,399 (GRCm39) |
P29L |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,636,094 (GRCm39) |
V412A |
possibly damaging |
Het |
| Rev1 |
T |
A |
1: 38,118,474 (GRCm39) |
I480L |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,028,708 (GRCm39) |
T711A |
probably benign |
Het |
| RP23-191E1.1 |
T |
A |
3: 106,204,784 (GRCm39) |
|
noncoding transcript |
Het |
| Serpina11 |
A |
T |
12: 103,952,221 (GRCm39) |
I183N |
probably damaging |
Het |
| Siglec1 |
T |
C |
2: 130,921,236 (GRCm39) |
H645R |
probably damaging |
Het |
| Skint7 |
G |
A |
4: 111,837,501 (GRCm39) |
R93H |
probably damaging |
Het |
| Slfn8 |
T |
C |
11: 82,894,910 (GRCm39) |
E632G |
probably damaging |
Het |
| Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
| Trps1 |
G |
A |
15: 50,528,156 (GRCm39) |
T658I |
probably damaging |
Het |
| Ubash3a |
A |
G |
17: 31,438,691 (GRCm39) |
T287A |
probably damaging |
Het |
| Vmn1r219 |
T |
A |
13: 23,347,063 (GRCm39) |
V84D |
probably damaging |
Het |
| Vmn2r10 |
T |
C |
5: 109,154,121 (GRCm39) |
Y61C |
probably damaging |
Het |
| Vmn2r104 |
G |
A |
17: 20,250,163 (GRCm39) |
P703S |
probably damaging |
Het |
| Wdsub1 |
T |
A |
2: 59,708,873 (GRCm39) |
|
probably benign |
Het |
| Zfp667 |
A |
G |
7: 6,308,715 (GRCm39) |
Q461R |
probably benign |
Het |
| Zfp941 |
C |
A |
7: 140,391,872 (GRCm39) |
G496* |
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 |
|
R4548:Ugt2b35
|
UTSW |
5 |
87,156,134 (GRCm39) |
nonsense |
probably null |
|
|
R4902:Ugt2b35
|
UTSW |
5 |
87,151,159 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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'- CTTACTCAAGAAGTTCAAACATGCC -3'
(R):5'- CAGCACTTTACAGGAAGGACTG -3'
Sequencing Primer
(F):5'- AACATGCCTACTAACATCTTCCTGGG -3'
(R):5'- CACTTTACAGGAAGGACTGCAGTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation