Incidental Mutation 'IGL00158:Ubqlnl'
ID |
1459 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ubqlnl
|
Ensembl Gene |
ENSMUSG00000051437 |
Gene Name |
ubiquilin-like |
Synonyms |
4922504M18Rik, LOC244179 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
IGL00158
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
103797466-103799763 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 103798372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 375
(E375G)
|
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: E375G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000056365 Gene: ENSMUSG00000051437 AA Change: E375G
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd3 |
T |
A |
18: 10,647,869 (GRCm39) |
D300V |
possibly damaging |
Het |
Agap1 |
A |
G |
1: 89,591,518 (GRCm39) |
|
probably benign |
Het |
Best3 |
A |
G |
10: 116,840,446 (GRCm39) |
|
probably benign |
Het |
Cfap43 |
T |
G |
19: 47,818,914 (GRCm39) |
I125L |
probably benign |
Het |
Cntn1 |
A |
G |
15: 92,148,758 (GRCm39) |
E335G |
possibly damaging |
Het |
Csmd3 |
A |
T |
15: 48,150,891 (GRCm39) |
S396T |
possibly damaging |
Het |
Cxxc5 |
T |
G |
18: 35,993,745 (GRCm39) |
*318G |
probably null |
Het |
Dpep3 |
T |
C |
8: 106,705,779 (GRCm39) |
T49A |
probably benign |
Het |
Elf1 |
T |
A |
14: 79,817,789 (GRCm39) |
M436K |
possibly damaging |
Het |
Ephx2 |
T |
G |
14: 66,330,286 (GRCm39) |
I310L |
probably benign |
Het |
Fancm |
A |
G |
12: 65,122,510 (GRCm39) |
T11A |
possibly damaging |
Het |
Ganab |
G |
T |
19: 8,879,959 (GRCm39) |
A73S |
probably benign |
Het |
Glp1r |
T |
G |
17: 31,120,891 (GRCm39) |
L14R |
possibly damaging |
Het |
Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
Krtap9-1 |
C |
T |
11: 99,764,680 (GRCm39) |
P139S |
unknown |
Het |
L2hgdh |
T |
C |
12: 69,748,208 (GRCm39) |
D306G |
possibly damaging |
Het |
Liat1 |
T |
C |
11: 75,894,192 (GRCm39) |
S190P |
probably benign |
Het |
Lrriq4 |
A |
G |
3: 30,705,104 (GRCm39) |
|
probably null |
Het |
Mbd3 |
T |
G |
10: 80,229,717 (GRCm39) |
|
probably benign |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Mug1 |
T |
C |
6: 121,842,768 (GRCm39) |
S585P |
probably damaging |
Het |
Nat8f4 |
C |
A |
6: 85,877,969 (GRCm39) |
A185S |
probably benign |
Het |
Nlrc5 |
C |
T |
8: 95,228,839 (GRCm39) |
|
probably benign |
Het |
Or8b12 |
T |
A |
9: 37,657,685 (GRCm39) |
I85N |
possibly damaging |
Het |
Or8g23 |
T |
A |
9: 38,971,159 (GRCm39) |
M268L |
probably benign |
Het |
Peg3 |
T |
A |
7: 6,713,273 (GRCm39) |
I650F |
probably benign |
Het |
Prom1 |
A |
T |
5: 44,213,279 (GRCm39) |
N142K |
probably damaging |
Het |
Qser1 |
T |
A |
2: 104,596,401 (GRCm39) |
D1537V |
probably damaging |
Het |
Rbm44 |
T |
A |
1: 91,084,831 (GRCm39) |
D684E |
probably benign |
Het |
Rnf19a |
A |
C |
15: 36,265,948 (GRCm39) |
S50A |
probably damaging |
Het |
Rnf31 |
A |
G |
14: 55,829,776 (GRCm39) |
|
probably null |
Het |
Rspry1 |
A |
G |
8: 95,349,614 (GRCm39) |
M1V |
probably null |
Het |
Rspry1 |
A |
T |
8: 95,349,608 (GRCm39) |
|
probably benign |
Het |
Sap130 |
C |
A |
18: 31,831,819 (GRCm39) |
P769T |
probably benign |
Het |
Slc22a16 |
T |
A |
10: 40,471,278 (GRCm39) |
M483K |
probably damaging |
Het |
Slc27a1 |
T |
C |
8: 72,037,416 (GRCm39) |
|
probably null |
Het |
Slc35a5 |
A |
T |
16: 44,972,971 (GRCm39) |
C65* |
probably null |
Het |
Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
Uggt2 |
G |
A |
14: 119,286,688 (GRCm39) |
T692I |
possibly damaging |
Het |
Vmn1r211 |
A |
T |
13: 23,036,272 (GRCm39) |
C132S |
probably benign |
Het |
Vmn2r61 |
A |
T |
7: 41,950,175 (GRCm39) |
N865I |
possibly damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,506,795 (GRCm39) |
M839K |
|
Het |
Xrn2 |
T |
A |
2: 146,878,670 (GRCm39) |
S455R |
probably benign |
Het |
Zan |
T |
A |
5: 137,452,519 (GRCm39) |
T1521S |
unknown |
Het |
Zfp326 |
A |
G |
5: 106,054,911 (GRCm39) |
M361V |
possibly damaging |
Het |
Zfp472 |
A |
G |
17: 33,196,498 (GRCm39) |
Y191C |
possibly damaging |
Het |
|
Other mutations in Ubqlnl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2011-07-12 |