Incidental Mutation 'R0517:Ubqlnl'
| ID |
48232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubqlnl
|
| Ensembl Gene |
ENSMUSG00000051437 |
| Gene Name |
ubiquilin-like |
| Synonyms |
4922504M18Rik, LOC244179 |
| MMRRC Submission |
038710-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R0517 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
103797466-103799763 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 103797845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 551
(Q551K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051137]
[ENSMUST00000059121]
|
| 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 damaging
Transcript: ENSMUST00000059121
AA Change: Q551K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000056365
Gene: ENSMUSG00000051437
AA Change: Q551K
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.1%
|
| Validation Efficiency |
100% (62/62) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410137M14Rik |
T |
A |
17: 37,292,024 (GRCm39) |
|
probably benign |
Het |
| Acer1 |
T |
C |
17: 57,262,569 (GRCm39) |
T194A |
probably benign |
Het |
| Adamts1 |
C |
A |
16: 85,597,241 (GRCm39) |
D10Y |
possibly damaging |
Het |
| Adamts7 |
T |
C |
9: 90,081,911 (GRCm39) |
V1612A |
probably benign |
Het |
| Adcyap1r1 |
T |
A |
6: 55,468,282 (GRCm39) |
S373T |
probably damaging |
Het |
| Asic5 |
A |
T |
3: 81,916,833 (GRCm39) |
I266F |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,901,232 (GRCm39) |
I274K |
probably damaging |
Het |
| Camsap2 |
G |
T |
1: 136,221,126 (GRCm39) |
Q238K |
possibly damaging |
Het |
| Ceacam15 |
A |
C |
7: 16,407,445 (GRCm39) |
L24* |
probably null |
Het |
| Cerk |
G |
A |
15: 86,040,849 (GRCm39) |
T170I |
probably damaging |
Het |
| Cyp27b1 |
T |
C |
10: 126,885,985 (GRCm39) |
|
probably null |
Het |
| Cyp2c65 |
T |
C |
19: 39,070,792 (GRCm39) |
|
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,533,968 (GRCm39) |
S75P |
probably damaging |
Het |
| Dhx9 |
C |
T |
1: 153,354,662 (GRCm39) |
A146T |
possibly damaging |
Het |
| Dpysl5 |
A |
G |
5: 30,935,410 (GRCm39) |
D171G |
probably damaging |
Het |
| Dsg3 |
A |
G |
18: 20,662,082 (GRCm39) |
N449S |
probably benign |
Het |
| Eps8l3 |
T |
C |
3: 107,790,776 (GRCm39) |
S189P |
probably benign |
Het |
| Exph5 |
A |
G |
9: 53,284,062 (GRCm39) |
E381G |
probably benign |
Het |
| Fbxo46 |
A |
G |
7: 18,870,799 (GRCm39) |
M473V |
possibly damaging |
Het |
| Fgf14 |
G |
A |
14: 124,221,196 (GRCm39) |
P203S |
probably damaging |
Het |
| Foxf2 |
C |
T |
13: 31,810,226 (GRCm39) |
A55V |
unknown |
Het |
| Galnt5 |
T |
G |
2: 57,925,385 (GRCm39) |
|
probably benign |
Het |
| Glis2 |
T |
C |
16: 4,429,416 (GRCm39) |
L181P |
probably damaging |
Het |
| Gm10000 |
T |
G |
12: 104,442,667 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,869,563 (GRCm39) |
S2959P |
probably benign |
Het |
| Hyal6 |
A |
G |
6: 24,734,852 (GRCm39) |
N262D |
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,841,665 (GRCm39) |
L526P |
probably damaging |
Het |
| Mapk1 |
A |
T |
16: 16,833,910 (GRCm39) |
I88F |
probably benign |
Het |
| Mpg |
A |
T |
11: 32,181,853 (GRCm39) |
H287L |
probably benign |
Het |
| Mpp4 |
A |
T |
1: 59,163,886 (GRCm39) |
Y489* |
probably null |
Het |
| Mpzl1 |
T |
C |
1: 165,429,359 (GRCm39) |
E224G |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,702,425 (GRCm39) |
|
probably null |
Het |
| Odad2 |
A |
C |
18: 7,223,621 (GRCm39) |
L474R |
probably damaging |
Het |
| Or13p8 |
T |
A |
4: 118,583,831 (GRCm39) |
I129K |
probably damaging |
Het |
| Or5m9 |
T |
C |
2: 85,877,548 (GRCm39) |
S241P |
probably damaging |
Het |
| Paip1 |
T |
A |
13: 119,584,326 (GRCm39) |
F196I |
probably damaging |
Het |
| Pde3a |
A |
T |
6: 141,444,383 (GRCm39) |
K1064* |
probably null |
Het |
| Pira2 |
A |
T |
7: 3,847,196 (GRCm39) |
|
probably benign |
Het |
| Pros1 |
A |
G |
16: 62,723,881 (GRCm39) |
S210G |
probably benign |
Het |
| Rbm15 |
A |
T |
3: 107,238,685 (GRCm39) |
L571Q |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,132,751 (GRCm39) |
T1194S |
possibly damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Serpina1e |
G |
A |
12: 103,915,486 (GRCm39) |
T240I |
probably benign |
Het |
| Setx |
T |
G |
2: 29,047,145 (GRCm39) |
S1874R |
probably benign |
Het |
| Sgsm2 |
G |
T |
11: 74,758,477 (GRCm39) |
T256K |
possibly damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,542,366 (GRCm39) |
V300A |
probably damaging |
Het |
| Spata46 |
A |
G |
1: 170,139,178 (GRCm39) |
Y59C |
probably damaging |
Het |
| Supt3 |
T |
C |
17: 45,430,158 (GRCm39) |
F404L |
probably benign |
Het |
| Tars1 |
T |
A |
15: 11,394,452 (GRCm39) |
K62* |
probably null |
Het |
| Tas2r139 |
A |
C |
6: 42,118,425 (GRCm39) |
T186P |
probably damaging |
Het |
| Tasor2 |
T |
A |
13: 3,616,964 (GRCm39) |
T2367S |
possibly damaging |
Het |
| Tc2n |
C |
T |
12: 101,615,454 (GRCm39) |
S457N |
probably damaging |
Het |
| Tox4 |
A |
T |
14: 52,530,085 (GRCm39) |
S582C |
probably benign |
Het |
| Trappc12 |
T |
C |
12: 28,747,133 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,119,435 (GRCm39) |
T205A |
probably benign |
Het |
| Urb1 |
G |
A |
16: 90,574,310 (GRCm39) |
Q924* |
probably null |
Het |
| Vmn1r49 |
A |
G |
6: 90,049,720 (GRCm39) |
L94P |
probably damaging |
Het |
| Vmn2r120 |
T |
C |
17: 57,815,949 (GRCm39) |
Y802C |
probably damaging |
Het |
| Xrcc1 |
C |
T |
7: 24,269,744 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R4524: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'- AGGTGAGGTGGTCAAATGTGTCAAC -3'
(R):5'- TGACTTGCTTTTAGCCCTAGCCAAC -3'
Sequencing Primer
(F):5'- TAGAATCCCTGAGAACTCTTGAGC -3'
(R):5'- AGCTATTGGCTACAGAGGCTC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation