Incidental Mutation 'R4524:Ubqlnl'
ID |
334365 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ubqlnl
|
Ensembl Gene |
ENSMUSG00000051437 |
Gene Name |
ubiquilin-like |
Synonyms |
4922504M18Rik, LOC244179 |
MMRRC Submission |
041766-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
R4524 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
103797466-103799763 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 103798925 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 191
(V191M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056365
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051137]
[ENSMUST00000059121]
[ENSMUST00000154555]
|
AlphaFold |
Q14DL0 |
PDB Structure |
Solution Structure of RSGI RUH-056, a UBA domain from mouse cDNA [SOLUTION NMR]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000051137
|
SMART Domains |
Protein: ENSMUSP00000052174 Gene: ENSMUSG00000044265
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
coiled coil region
|
47 |
85 |
N/A |
INTRINSIC |
coiled coil region
|
157 |
198 |
N/A |
INTRINSIC |
OLF
|
211 |
468 |
3.13e-70 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000059121
AA Change: V191M
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000056365 Gene: ENSMUSG00000051437 AA Change: V191M
Domain | Start | End | E-Value | Type |
UBQ
|
31 |
101 |
5.13e-16 |
SMART |
Blast:STI1
|
199 |
237 |
8e-11 |
BLAST |
low complexity region
|
339 |
350 |
N/A |
INTRINSIC |
low complexity region
|
402 |
419 |
N/A |
INTRINSIC |
PDB:2DNA|A
|
561 |
610 |
3e-26 |
PDB |
Blast:UBA
|
568 |
604 |
1e-10 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154555
|
SMART Domains |
Protein: ENSMUSP00000117893 Gene: ENSMUSG00000044265
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
coiled coil region
|
47 |
123 |
N/A |
INTRINSIC |
OLF
|
136 |
304 |
3.65e-10 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
97% (58/60) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal in terms of growth and behavior. Adult males are fertile and show no apparent defects in spermatogenesis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,342,076 (GRCm39) |
S962G |
probably benign |
Het |
Ackr2 |
T |
C |
9: 121,738,609 (GRCm39) |
V328A |
probably benign |
Het |
Ang4 |
G |
T |
14: 52,001,605 (GRCm39) |
C114* |
probably null |
Het |
Arid1b |
A |
T |
17: 5,147,895 (GRCm39) |
Q599L |
possibly damaging |
Het |
Ascc3 |
A |
G |
10: 50,536,766 (GRCm39) |
N700D |
probably benign |
Het |
Atrnl1 |
A |
G |
19: 57,618,738 (GRCm39) |
D152G |
probably damaging |
Het |
Birc6 |
C |
T |
17: 74,948,772 (GRCm39) |
T3067I |
probably damaging |
Het |
Bmpr2 |
T |
C |
1: 59,906,571 (GRCm39) |
S555P |
probably benign |
Het |
Brox |
A |
T |
1: 183,074,045 (GRCm39) |
L68I |
possibly damaging |
Het |
C130026L21Rik |
A |
G |
5: 111,733,738 (GRCm39) |
|
noncoding transcript |
Het |
Cavin2 |
T |
C |
1: 51,340,229 (GRCm39) |
V302A |
probably benign |
Het |
Cbln3 |
A |
T |
14: 56,121,522 (GRCm39) |
C41* |
probably null |
Het |
Ccdc88c |
G |
T |
12: 100,879,591 (GRCm39) |
S1843R |
possibly damaging |
Het |
Clec4a2 |
T |
A |
6: 123,102,043 (GRCm39) |
I66N |
probably damaging |
Het |
Cybc1 |
A |
G |
11: 121,114,934 (GRCm39) |
|
probably benign |
Het |
Ddx27 |
T |
A |
2: 166,869,640 (GRCm39) |
C358* |
probably null |
Het |
Ehbp1 |
A |
T |
11: 22,101,843 (GRCm39) |
D228E |
probably damaging |
Het |
Emc7 |
T |
C |
2: 112,285,609 (GRCm39) |
V66A |
probably damaging |
Het |
Fbxo41 |
A |
G |
6: 85,461,024 (GRCm39) |
I228T |
probably damaging |
Het |
Furin |
T |
C |
7: 80,048,382 (GRCm39) |
|
probably null |
Het |
Gm3739 |
T |
A |
14: 18,505,267 (GRCm39) |
K86* |
probably null |
Het |
Gmpr |
A |
T |
13: 45,683,215 (GRCm39) |
E162V |
probably damaging |
Het |
Gtpbp4 |
A |
T |
13: 9,024,330 (GRCm39) |
V541D |
probably benign |
Het |
Myh2 |
G |
T |
11: 67,067,096 (GRCm39) |
G184W |
probably damaging |
Het |
Nop2 |
G |
T |
6: 125,110,515 (GRCm39) |
R47L |
probably damaging |
Het |
Nrg4 |
T |
G |
9: 55,135,186 (GRCm39) |
|
probably benign |
Het |
Ntng1 |
A |
G |
3: 109,842,312 (GRCm39) |
S154P |
probably damaging |
Het |
Or14a257 |
G |
T |
7: 86,138,034 (GRCm39) |
H242N |
probably damaging |
Het |
Or8b12 |
T |
C |
9: 37,658,162 (GRCm39) |
L244S |
possibly damaging |
Het |
Pde7a |
T |
A |
3: 19,285,140 (GRCm39) |
H349L |
possibly damaging |
Het |
Pds5b |
A |
T |
5: 150,711,781 (GRCm39) |
D913V |
probably damaging |
Het |
Plce1 |
T |
C |
19: 38,512,763 (GRCm39) |
S21P |
possibly damaging |
Het |
Ralgapb |
C |
A |
2: 158,279,226 (GRCm39) |
T104N |
probably benign |
Het |
Rapgef1 |
A |
G |
2: 29,569,258 (GRCm39) |
I59V |
probably benign |
Het |
Rpl10l |
T |
C |
12: 66,330,512 (GRCm39) |
D207G |
probably benign |
Het |
Rsph6a |
C |
T |
7: 18,799,970 (GRCm39) |
H534Y |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Shcbp1 |
T |
C |
8: 4,789,193 (GRCm39) |
Y542C |
probably damaging |
Het |
Shisa8 |
C |
G |
15: 82,096,163 (GRCm39) |
V151L |
possibly damaging |
Het |
Slc7a8 |
G |
A |
14: 54,975,059 (GRCm39) |
T190I |
probably damaging |
Het |
Spire2 |
T |
A |
8: 124,086,974 (GRCm39) |
S382T |
probably benign |
Het |
Stard9 |
A |
G |
2: 120,526,926 (GRCm39) |
D1061G |
probably damaging |
Het |
Tex44 |
T |
G |
1: 86,355,298 (GRCm39) |
D402E |
probably benign |
Het |
Thbs1 |
G |
T |
2: 117,953,460 (GRCm39) |
R959L |
probably damaging |
Het |
Tiam2 |
A |
G |
17: 3,564,986 (GRCm39) |
D1408G |
probably damaging |
Het |
Trrap |
C |
T |
5: 144,762,131 (GRCm39) |
T2352I |
probably benign |
Het |
Tspyl5 |
T |
A |
15: 33,687,738 (GRCm39) |
E69V |
probably damaging |
Het |
Washc1 |
C |
T |
17: 66,426,087 (GRCm39) |
Q462* |
probably null |
Het |
Xdh |
C |
A |
17: 74,205,339 (GRCm39) |
G1042V |
probably damaging |
Het |
|
Other mutations in Ubqlnl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00158:Ubqlnl
|
APN |
7 |
103,798,372 (GRCm39) |
missense |
probably benign |
|
IGL01592:Ubqlnl
|
APN |
7 |
103,799,496 (GRCm39) |
unclassified |
probably benign |
|
IGL01972:Ubqlnl
|
APN |
7 |
103,798,904 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02266:Ubqlnl
|
APN |
7 |
103,798,754 (GRCm39) |
nonsense |
probably null |
|
IGL02447:Ubqlnl
|
APN |
7 |
103,797,856 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03232:Ubqlnl
|
APN |
7 |
103,797,836 (GRCm39) |
missense |
possibly damaging |
0.71 |
FR4737:Ubqlnl
|
UTSW |
7 |
103,799,042 (GRCm39) |
unclassified |
probably benign |
|
R0066:Ubqlnl
|
UTSW |
7 |
103,798,145 (GRCm39) |
missense |
probably damaging |
0.98 |
R0066:Ubqlnl
|
UTSW |
7 |
103,798,145 (GRCm39) |
missense |
probably damaging |
0.98 |
R0077:Ubqlnl
|
UTSW |
7 |
103,799,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R0109:Ubqlnl
|
UTSW |
7 |
103,799,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R0109:Ubqlnl
|
UTSW |
7 |
103,799,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R0517:Ubqlnl
|
UTSW |
7 |
103,797,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R1129:Ubqlnl
|
UTSW |
7 |
103,798,857 (GRCm39) |
missense |
probably damaging |
0.98 |
R1885:Ubqlnl
|
UTSW |
7 |
103,799,272 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1987:Ubqlnl
|
UTSW |
7 |
103,797,692 (GRCm39) |
missense |
probably benign |
|
R2151:Ubqlnl
|
UTSW |
7 |
103,797,890 (GRCm39) |
missense |
probably benign |
0.00 |
R2152:Ubqlnl
|
UTSW |
7 |
103,797,890 (GRCm39) |
missense |
probably benign |
0.00 |
R2153:Ubqlnl
|
UTSW |
7 |
103,797,890 (GRCm39) |
missense |
probably benign |
0.00 |
R3712:Ubqlnl
|
UTSW |
7 |
103,798,345 (GRCm39) |
missense |
probably benign |
0.03 |
R3914:Ubqlnl
|
UTSW |
7 |
103,798,813 (GRCm39) |
missense |
probably benign |
|
R4367:Ubqlnl
|
UTSW |
7 |
103,798,925 (GRCm39) |
missense |
probably benign |
0.00 |
R4404:Ubqlnl
|
UTSW |
7 |
103,798,925 (GRCm39) |
missense |
probably benign |
0.00 |
R4405:Ubqlnl
|
UTSW |
7 |
103,798,925 (GRCm39) |
missense |
probably benign |
0.00 |
R4406:Ubqlnl
|
UTSW |
7 |
103,798,925 (GRCm39) |
missense |
probably benign |
0.00 |
R4407:Ubqlnl
|
UTSW |
7 |
103,798,925 (GRCm39) |
missense |
probably benign |
0.00 |
R4449:Ubqlnl
|
UTSW |
7 |
103,798,925 (GRCm39) |
missense |
probably benign |
0.00 |
R4458:Ubqlnl
|
UTSW |
7 |
103,798,396 (GRCm39) |
missense |
probably benign |
0.01 |
R4508:Ubqlnl
|
UTSW |
7 |
103,798,925 (GRCm39) |
missense |
probably benign |
0.00 |
R4516:Ubqlnl
|
UTSW |
7 |
103,798,925 (GRCm39) |
missense |
probably benign |
0.00 |
R4517:Ubqlnl
|
UTSW |
7 |
103,798,925 (GRCm39) |
missense |
probably benign |
0.00 |
R4518:Ubqlnl
|
UTSW |
7 |
103,798,925 (GRCm39) |
missense |
probably benign |
0.00 |
R4522:Ubqlnl
|
UTSW |
7 |
103,798,925 (GRCm39) |
missense |
probably benign |
0.00 |
R4523:Ubqlnl
|
UTSW |
7 |
103,798,925 (GRCm39) |
missense |
probably benign |
0.00 |
R4529:Ubqlnl
|
UTSW |
7 |
103,798,925 (GRCm39) |
missense |
probably benign |
0.00 |
R4531:Ubqlnl
|
UTSW |
7 |
103,798,925 (GRCm39) |
missense |
probably benign |
0.00 |
R4738:Ubqlnl
|
UTSW |
7 |
103,798,925 (GRCm39) |
missense |
probably benign |
0.00 |
R4739:Ubqlnl
|
UTSW |
7 |
103,798,925 (GRCm39) |
missense |
probably benign |
0.00 |
R4740:Ubqlnl
|
UTSW |
7 |
103,798,925 (GRCm39) |
missense |
probably benign |
0.00 |
R5339:Ubqlnl
|
UTSW |
7 |
103,798,972 (GRCm39) |
missense |
probably benign |
0.00 |
R5357:Ubqlnl
|
UTSW |
7 |
103,798,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R5386:Ubqlnl
|
UTSW |
7 |
103,798,424 (GRCm39) |
missense |
probably benign |
0.01 |
R5542:Ubqlnl
|
UTSW |
7 |
103,798,904 (GRCm39) |
nonsense |
probably null |
|
R5588:Ubqlnl
|
UTSW |
7 |
103,798,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R6058:Ubqlnl
|
UTSW |
7 |
103,797,959 (GRCm39) |
missense |
probably benign |
|
R6084:Ubqlnl
|
UTSW |
7 |
103,797,905 (GRCm39) |
missense |
probably benign |
0.01 |
R6207:Ubqlnl
|
UTSW |
7 |
103,797,915 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6794:Ubqlnl
|
UTSW |
7 |
103,797,992 (GRCm39) |
missense |
probably benign |
0.34 |
R7500:Ubqlnl
|
UTSW |
7 |
103,798,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R7575:Ubqlnl
|
UTSW |
7 |
103,797,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R8491:Ubqlnl
|
UTSW |
7 |
103,798,582 (GRCm39) |
missense |
probably benign |
0.22 |
R8757:Ubqlnl
|
UTSW |
7 |
103,799,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R8759:Ubqlnl
|
UTSW |
7 |
103,799,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R9324:Ubqlnl
|
UTSW |
7 |
103,798,962 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9366:Ubqlnl
|
UTSW |
7 |
103,798,592 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9651:Ubqlnl
|
UTSW |
7 |
103,799,122 (GRCm39) |
missense |
possibly damaging |
0.46 |
Z1088:Ubqlnl
|
UTSW |
7 |
103,799,200 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ubqlnl
|
UTSW |
7 |
103,797,835 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- GGATACTCAGGGTTCTGTGC -3'
(R):5'- TGGTAACCAACAATCCCTGC -3'
Sequencing Primer
(F):5'- CTGGCTGCTGGATCTGCATTATC -3'
(R):5'- TCCCTGCCATCAAGACAGG -3'
|
Posted On |
2015-08-18 |