Incidental Mutation 'R4452:Ugt2b35'
| ID |
329001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt2b35
|
| Ensembl Gene |
ENSMUSG00000035811 |
| Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B35 |
| Synonyms |
|
| MMRRC Submission |
041713-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R4452 (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 87151237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 281
(H281L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031186]
|
| AlphaFold |
Q8BJL9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031186
AA Change: H281L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031186
Gene: ENSMUSG00000035811
AA Change: H281L
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
A |
G |
7: 119,297,797 (GRCm39) |
T145A |
possibly damaging |
Het |
| Adgra1 |
G |
T |
7: 139,432,437 (GRCm39) |
A92S |
probably benign |
Het |
| Aim2 |
A |
G |
1: 173,283,010 (GRCm39) |
T31A |
possibly damaging |
Het |
| Cd46 |
G |
A |
1: 194,767,668 (GRCm39) |
A131V |
possibly damaging |
Het |
| Cdc27 |
A |
T |
11: 104,408,221 (GRCm39) |
M563K |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,704,308 (GRCm39) |
N721I |
probably damaging |
Het |
| Cnn2 |
A |
G |
10: 79,827,276 (GRCm39) |
D49G |
probably benign |
Het |
| Cul1 |
T |
A |
6: 47,485,923 (GRCm39) |
Y323* |
probably null |
Het |
| D5Ertd579e |
A |
G |
5: 36,773,814 (GRCm39) |
W194R |
probably damaging |
Het |
| Dhx15 |
G |
A |
5: 52,324,074 (GRCm39) |
P406L |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,917,908 (GRCm39) |
A2249T |
probably damaging |
Het |
| Dppa4 |
T |
A |
16: 48,109,699 (GRCm39) |
D106E |
probably benign |
Het |
| Gja10 |
A |
G |
4: 32,601,313 (GRCm39) |
V357A |
probably benign |
Het |
| Gm20481 |
T |
G |
17: 35,191,109 (GRCm39) |
|
probably benign |
Het |
| Grxcr2 |
T |
C |
18: 42,119,609 (GRCm39) |
N244D |
probably damaging |
Het |
| Klk1b11 |
T |
A |
7: 43,645,335 (GRCm39) |
F3I |
probably damaging |
Het |
| Mid1 |
T |
C |
X: 168,710,421 (GRCm39) |
V139A |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,393,094 (GRCm39) |
K3046E |
probably damaging |
Het |
| Nfasc |
T |
C |
1: 132,562,409 (GRCm39) |
N122S |
probably damaging |
Het |
| Or11j4 |
A |
T |
14: 50,630,369 (GRCm39) |
Y52F |
probably benign |
Het |
| Or4c124 |
T |
A |
2: 89,155,597 (GRCm39) |
D309V |
possibly damaging |
Het |
| Or52ac1 |
T |
A |
7: 104,245,846 (GRCm39) |
M181L |
probably damaging |
Het |
| Or52i2 |
T |
C |
7: 102,319,256 (GRCm39) |
V43A |
probably benign |
Het |
| Or8d1b |
T |
C |
9: 38,887,382 (GRCm39) |
S137P |
probably benign |
Het |
| Or8h9 |
C |
T |
2: 86,789,043 (GRCm39) |
G253D |
probably damaging |
Het |
| P2ry10b |
C |
T |
X: 106,214,724 (GRCm39) |
T28I |
probably damaging |
Het |
| Pdxdc1 |
T |
C |
16: 13,654,990 (GRCm39) |
Y675C |
possibly damaging |
Het |
| Plcl1 |
A |
G |
1: 55,736,045 (GRCm39) |
N462S |
probably benign |
Het |
| Ptf1a |
G |
T |
2: 19,451,092 (GRCm39) |
A141S |
possibly damaging |
Het |
| Pzp |
A |
G |
6: 128,468,203 (GRCm39) |
L1028P |
probably damaging |
Het |
| Qrsl1 |
A |
G |
10: 43,758,158 (GRCm39) |
S312P |
probably damaging |
Het |
| Sars2 |
A |
G |
7: 28,449,518 (GRCm39) |
T349A |
probably benign |
Het |
| Scarb1 |
A |
T |
5: 125,377,409 (GRCm39) |
F208I |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,854,972 (GRCm39) |
N153S |
possibly damaging |
Het |
| Sema4c |
A |
T |
1: 36,592,837 (GRCm39) |
V127D |
probably benign |
Het |
| Smg6 |
C |
G |
11: 74,880,967 (GRCm39) |
S931C |
probably benign |
Het |
| Trpm2 |
A |
T |
10: 77,759,427 (GRCm39) |
L1119Q |
probably damaging |
Het |
| Ubtd2 |
T |
A |
11: 32,449,406 (GRCm39) |
N84K |
probably damaging |
Het |
| Umodl1 |
T |
C |
17: 31,213,789 (GRCm39) |
|
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 |
|
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'- CAGATGACAGTCCTGTTAACTTTTCC -3'
(R):5'- AGGTGGATTGTGAGATTCAAACTC -3'
Sequencing Primer
(F):5'- GACAGTCCTGTTAACTTTTCCCTGTC -3'
(R):5'- GAATATATACCAAGTCTCGCATGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation