Incidental Mutation 'R7500:Ubqlnl'
| ID |
581425 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubqlnl
|
| Ensembl Gene |
ENSMUSG00000051437 |
| Gene Name |
ubiquilin-like |
| Synonyms |
4922504M18Rik, LOC244179 |
| MMRRC Submission |
045573-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
R7500 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
103797466-103799763 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103798048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 483
(I483N)
|
| 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: I483N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000056365
Gene: ENSMUSG00000051437
AA Change: I483N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (49/50) |
| 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 |
|---|
| Acaa1a |
A |
G |
9: 119,173,564 (GRCm39) |
M146V |
probably benign |
Het |
| Adcy1 |
C |
T |
11: 7,094,762 (GRCm39) |
R563C |
probably damaging |
Het |
| Ambn |
A |
T |
5: 88,609,493 (GRCm39) |
Y67F |
possibly damaging |
Het |
| Ankrd42 |
T |
A |
7: 92,241,080 (GRCm39) |
E426D |
probably benign |
Het |
| Ankzf1 |
A |
G |
1: 75,174,623 (GRCm39) |
T538A |
probably benign |
Het |
| Arhgap20 |
A |
G |
9: 51,751,802 (GRCm39) |
I418V |
probably benign |
Het |
| Arhgef28 |
A |
G |
13: 98,115,003 (GRCm39) |
Y616H |
probably benign |
Het |
| B4galt4 |
T |
C |
16: 38,588,376 (GRCm39) |
F340S |
probably damaging |
Het |
| Bmp1 |
C |
T |
14: 70,727,562 (GRCm39) |
E674K |
probably benign |
Het |
| Ccr9 |
T |
A |
9: 123,608,534 (GRCm39) |
V72D |
probably damaging |
Het |
| Chd2 |
T |
A |
7: 73,101,556 (GRCm39) |
K1390I |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,711,585 (GRCm39) |
R513Q |
unknown |
Het |
| Cracd |
A |
G |
5: 76,805,905 (GRCm39) |
R126G |
unknown |
Het |
| Cttnbp2 |
G |
T |
6: 18,378,419 (GRCm39) |
N1472K |
probably benign |
Het |
| Edn3 |
A |
G |
2: 174,621,328 (GRCm39) |
|
probably null |
Het |
| Eps15l1 |
A |
G |
8: 73,136,634 (GRCm39) |
F331L |
probably damaging |
Het |
| Gm45337 |
CACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCTACAGCCTCC |
CACAGCCTCC |
7: 141,698,021 (GRCm39) |
|
probably benign |
Het |
| Lrrc56 |
A |
G |
7: 140,789,443 (GRCm39) |
S487G |
probably benign |
Het |
| Moxd2 |
A |
G |
6: 40,868,746 (GRCm39) |
T93A |
probably benign |
Het |
| Ngp |
G |
T |
9: 110,248,833 (GRCm39) |
|
probably null |
Het |
| Npr2 |
T |
C |
4: 43,650,415 (GRCm39) |
V970A |
probably damaging |
Het |
| Or4a79 |
T |
C |
2: 89,552,281 (GRCm39) |
Y58C |
possibly damaging |
Het |
| Or5an10 |
T |
C |
19: 12,276,041 (GRCm39) |
S152G |
probably damaging |
Het |
| Or8b9 |
T |
C |
9: 37,766,314 (GRCm39) |
S67P |
probably damaging |
Het |
| Or8g28 |
T |
G |
9: 39,169,762 (GRCm39) |
I69L |
probably benign |
Het |
| Pacc1 |
A |
G |
1: 191,078,910 (GRCm39) |
|
probably null |
Het |
| Pdf |
A |
T |
8: 107,773,781 (GRCm39) |
F221I |
probably damaging |
Het |
| Plekhn1 |
A |
C |
4: 156,317,771 (GRCm39) |
S205R |
probably benign |
Het |
| Ppp6r1 |
G |
A |
7: 4,639,129 (GRCm39) |
A606V |
probably benign |
Het |
| Prpf38b |
C |
T |
3: 108,812,446 (GRCm39) |
V256I |
probably benign |
Het |
| Rbbp5 |
T |
A |
1: 132,421,879 (GRCm39) |
H291Q |
probably benign |
Het |
| Rnf169 |
T |
C |
7: 99,629,445 (GRCm39) |
E66G |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,381,501 (GRCm39) |
N328Y |
unknown |
Het |
| Skint5 |
A |
T |
4: 113,417,035 (GRCm39) |
V1138E |
unknown |
Het |
| Slc27a4 |
T |
C |
2: 29,702,717 (GRCm39) |
V539A |
probably damaging |
Het |
| Smo |
G |
T |
6: 29,755,534 (GRCm39) |
R402L |
probably benign |
Het |
| Srgap2 |
A |
T |
1: 131,364,569 (GRCm39) |
L4Q |
probably damaging |
Het |
| Tbxas1 |
A |
T |
6: 38,959,146 (GRCm39) |
R110* |
probably null |
Het |
| Thoc7 |
A |
C |
14: 13,951,204 (GRCm38) |
|
probably null |
Het |
| Tmub1 |
G |
A |
5: 24,652,507 (GRCm39) |
|
probably benign |
Het |
| Tnrc6a |
A |
G |
7: 122,772,673 (GRCm39) |
|
probably null |
Het |
| Traj19 |
T |
A |
14: 54,437,860 (GRCm39) |
H6Q |
unknown |
Het |
| Trim30c |
T |
C |
7: 104,036,758 (GRCm39) |
E200G |
probably benign |
Het |
| Usp25 |
G |
T |
16: 76,874,089 (GRCm39) |
R555L |
probably damaging |
Het |
| Vgll4 |
A |
G |
6: 114,839,293 (GRCm39) |
S233P |
probably damaging |
Het |
| Vps13b |
G |
A |
15: 35,910,670 (GRCm39) |
C3478Y |
possibly damaging |
Het |
| Vwa8 |
T |
A |
14: 79,162,686 (GRCm39) |
|
probably null |
Het |
| Zfp977 |
A |
G |
7: 42,229,629 (GRCm39) |
Y299H |
probably damaging |
Het |
| Zmynd11 |
T |
A |
13: 9,785,434 (GRCm39) |
H17L |
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 |
|
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 |
|
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 |
|
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'- TTGTGGCAGCTTTCAGGACAC -3'
(R):5'- ATCTCCAGCAGTCTGATGACC -3'
Sequencing Primer
(F):5'- AGACCCCATAGGTAAGGT -3'
(R):5'- TTCTCAGATCACAGGAGGCATGATC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation