Incidental Mutation 'R3927:Ubqln5'
ID |
308330 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ubqln5
|
Ensembl Gene |
ENSMUSG00000055643 |
Gene Name |
ubiquilin 5 |
Synonyms |
4931431F19Rik |
MMRRC Submission |
040822-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R3927 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
103777120-103779030 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 103777678 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 382
(L382P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062054
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053743]
[ENSMUST00000138055]
|
AlphaFold |
Q9D4I8 |
PDB Structure |
Solution Structure of RSGI RUH-016, a UBA Domain from mouse cDNA [SOLUTION NMR]
Solution Structure of the N-terminal Ubiquitin-like Domain in the 4931431F19Rik Protein [SOLUTION NMR]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053743
AA Change: L382P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000062054 Gene: ENSMUSG00000055643 AA Change: L382P
Domain | Start | End | E-Value | Type |
UBQ
|
24 |
94 |
7.97e-13 |
SMART |
low complexity region
|
365 |
376 |
N/A |
INTRINSIC |
UBA
|
468 |
506 |
2.14e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138055
|
SMART Domains |
Protein: ENSMUSP00000139240 Gene: ENSMUSG00000109824
Domain | Start | End | E-Value | Type |
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
Validation Efficiency |
95% (40/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
A |
G |
2: 103,538,563 (GRCm39) |
|
probably null |
Het |
Alpk1 |
T |
C |
3: 127,471,365 (GRCm39) |
H1039R |
probably damaging |
Het |
Avpr1a |
A |
G |
10: 122,285,616 (GRCm39) |
S303G |
probably benign |
Het |
Axdnd1 |
A |
G |
1: 156,246,840 (GRCm39) |
L79S |
probably damaging |
Het |
Baz1a |
A |
G |
12: 54,967,928 (GRCm39) |
I667T |
possibly damaging |
Het |
Bend5 |
A |
G |
4: 111,305,802 (GRCm39) |
Y282C |
possibly damaging |
Het |
Clstn3 |
T |
C |
6: 124,428,327 (GRCm39) |
D438G |
probably damaging |
Het |
Cog3 |
A |
G |
14: 75,980,998 (GRCm39) |
|
probably benign |
Het |
Cyp2j6 |
T |
C |
4: 96,441,525 (GRCm39) |
N55S |
probably benign |
Het |
Eif4b |
G |
A |
15: 101,992,745 (GRCm39) |
G101R |
probably damaging |
Het |
Epha2 |
T |
C |
4: 141,033,861 (GRCm39) |
L40P |
probably damaging |
Het |
Fig4 |
A |
G |
10: 41,139,135 (GRCm39) |
V356A |
probably benign |
Het |
Hal |
T |
C |
10: 93,349,888 (GRCm39) |
|
probably benign |
Het |
Helz |
A |
G |
11: 107,576,118 (GRCm39) |
Y1770C |
unknown |
Het |
Meis3 |
A |
G |
7: 15,911,419 (GRCm39) |
T39A |
probably benign |
Het |
Nod1 |
G |
T |
6: 54,921,902 (GRCm39) |
R139S |
probably benign |
Het |
Or6n2 |
A |
T |
1: 173,896,878 (GRCm39) |
N5Y |
probably damaging |
Het |
Pacsin3 |
C |
T |
2: 91,093,286 (GRCm39) |
|
probably null |
Het |
Plekhh1 |
T |
A |
12: 79,100,422 (GRCm39) |
I130N |
probably damaging |
Het |
Plxna2 |
G |
A |
1: 194,428,465 (GRCm39) |
E512K |
probably benign |
Het |
Ppp1r9a |
A |
G |
6: 5,057,531 (GRCm39) |
I215M |
probably damaging |
Het |
Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
Sap130 |
A |
T |
18: 31,807,435 (GRCm39) |
H414L |
possibly damaging |
Het |
Slc33a1 |
A |
G |
3: 63,871,145 (GRCm39) |
I156T |
probably benign |
Het |
Slc37a2 |
G |
A |
9: 37,146,803 (GRCm39) |
T338M |
probably damaging |
Het |
Spinkl |
T |
A |
18: 44,302,230 (GRCm39) |
|
probably null |
Het |
Tmc5 |
T |
A |
7: 118,251,878 (GRCm39) |
L657* |
probably null |
Het |
Tmem217 |
A |
G |
17: 29,745,677 (GRCm39) |
S18P |
probably damaging |
Het |
Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
Tubb4a |
A |
G |
17: 57,387,967 (GRCm39) |
V353A |
probably benign |
Het |
Ube3b |
T |
C |
5: 114,553,741 (GRCm39) |
F974L |
probably benign |
Het |
Ufsp2 |
T |
A |
8: 46,436,723 (GRCm39) |
|
probably null |
Het |
Unkl |
C |
T |
17: 25,448,303 (GRCm39) |
T66I |
probably damaging |
Het |
Xrn2 |
T |
A |
2: 146,880,109 (GRCm39) |
N477K |
probably benign |
Het |
Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
Zzef1 |
T |
C |
11: 72,749,208 (GRCm39) |
S899P |
probably damaging |
Het |
Zzz3 |
T |
C |
3: 152,161,499 (GRCm39) |
Y298H |
probably damaging |
Het |
|
Other mutations in Ubqln5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01761:Ubqln5
|
APN |
7 |
103,777,634 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02127:Ubqln5
|
APN |
7 |
103,778,689 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02565:Ubqln5
|
APN |
7 |
103,778,279 (GRCm39) |
nonsense |
probably null |
|
R1181:Ubqln5
|
UTSW |
7 |
103,777,948 (GRCm39) |
missense |
probably damaging |
0.99 |
R1962:Ubqln5
|
UTSW |
7 |
103,778,134 (GRCm39) |
missense |
probably damaging |
0.98 |
R1962:Ubqln5
|
UTSW |
7 |
103,778,095 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1964:Ubqln5
|
UTSW |
7 |
103,778,095 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1992:Ubqln5
|
UTSW |
7 |
103,778,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R1998:Ubqln5
|
UTSW |
7 |
103,777,948 (GRCm39) |
missense |
probably damaging |
0.99 |
R4831:Ubqln5
|
UTSW |
7 |
103,778,829 (GRCm39) |
intron |
probably benign |
|
R5699:Ubqln5
|
UTSW |
7 |
103,778,632 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5840:Ubqln5
|
UTSW |
7 |
103,778,161 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5858:Ubqln5
|
UTSW |
7 |
103,778,018 (GRCm39) |
missense |
probably benign |
0.17 |
R5907:Ubqln5
|
UTSW |
7 |
103,777,781 (GRCm39) |
missense |
possibly damaging |
0.55 |
R6477:Ubqln5
|
UTSW |
7 |
103,777,465 (GRCm39) |
missense |
probably damaging |
0.97 |
R6602:Ubqln5
|
UTSW |
7 |
103,778,696 (GRCm39) |
missense |
probably benign |
0.07 |
R6919:Ubqln5
|
UTSW |
7 |
103,778,215 (GRCm39) |
missense |
probably benign |
0.15 |
R6981:Ubqln5
|
UTSW |
7 |
103,777,808 (GRCm39) |
missense |
probably benign |
0.29 |
R8153:Ubqln5
|
UTSW |
7 |
103,778,011 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8712:Ubqln5
|
UTSW |
7 |
103,778,322 (GRCm39) |
missense |
probably benign |
0.04 |
R8787:Ubqln5
|
UTSW |
7 |
103,778,329 (GRCm39) |
missense |
probably benign |
0.01 |
R9398:Ubqln5
|
UTSW |
7 |
103,777,985 (GRCm39) |
missense |
probably benign |
0.05 |
X0028:Ubqln5
|
UTSW |
7 |
103,778,615 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Ubqln5
|
UTSW |
7 |
103,778,178 (GRCm39) |
missense |
possibly damaging |
0.83 |
Z1176:Ubqln5
|
UTSW |
7 |
103,778,125 (GRCm39) |
missense |
probably benign |
0.33 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAGTGCAGTTTGGGAAGAC -3'
(R):5'- CCCTTGGAGAAAGTCCCTCTAAC -3'
Sequencing Primer
(F):5'- TGGGAACAGGCTCTGGC -3'
(R):5'- TGGAGAAAGTCCCTCTAACCTGTC -3'
|
Posted On |
2015-04-17 |