Incidental Mutation 'R9324:Ubqlnl'
| ID |
706384 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubqlnl
|
| Ensembl Gene |
ENSMUSG00000051437 |
| Gene Name |
ubiquilin-like |
| Synonyms |
4922504M18Rik, LOC244179 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R9324 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
103797466-103799763 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103798962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 178
(N178K)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000059121
AA Change: N178K
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000056365
Gene: ENSMUSG00000051437
AA Change: N178K
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
A |
G |
7: 119,179,856 (GRCm39) |
H358R |
probably benign |
Het |
| Arid3c |
A |
G |
4: 41,730,138 (GRCm39) |
L19S |
possibly damaging |
Het |
| Arpp21 |
T |
A |
9: 111,986,765 (GRCm39) |
D262V |
probably damaging |
Het |
| Atp4a |
A |
C |
7: 30,415,207 (GRCm39) |
I276L |
probably benign |
Het |
| Axl |
C |
G |
7: 25,460,982 (GRCm39) |
E676Q |
probably damaging |
Het |
| Ces1g |
T |
C |
8: 94,055,118 (GRCm39) |
D193G |
probably damaging |
Het |
| Crym |
A |
G |
7: 119,789,005 (GRCm39) |
V274A |
probably damaging |
Het |
| Efcab5 |
T |
A |
11: 77,004,546 (GRCm39) |
H924L |
possibly damaging |
Het |
| Eif1ad7 |
T |
A |
12: 88,238,709 (GRCm39) |
N17I |
unknown |
Het |
| Eif3l |
T |
A |
15: 78,978,423 (GRCm39) |
M560K |
probably benign |
Het |
| Fam234b |
C |
A |
6: 135,202,793 (GRCm39) |
Y382* |
probably null |
Het |
| Fbxw19 |
T |
C |
9: 109,313,440 (GRCm39) |
K253E |
possibly damaging |
Het |
| Fhip1a |
T |
C |
3: 85,638,053 (GRCm39) |
D82G |
probably benign |
Het |
| Flt3 |
A |
G |
5: 147,313,790 (GRCm39) |
S87P |
probably benign |
Het |
| Garin3 |
A |
T |
11: 46,295,810 (GRCm39) |
I61F |
|
Het |
| Ggnbp2 |
A |
G |
11: 84,725,174 (GRCm39) |
L627S |
probably damaging |
Het |
| Gm26661 |
T |
G |
14: 7,791,765 (GRCm38) |
V60G |
unknown |
Het |
| Golt1a |
T |
C |
1: 133,247,094 (GRCm39) |
L34P |
probably damaging |
Het |
| Gp5 |
T |
C |
16: 30,127,808 (GRCm39) |
M289V |
possibly damaging |
Het |
| Gpr63 |
C |
G |
4: 25,008,432 (GRCm39) |
H385Q |
possibly damaging |
Het |
| Hcn1 |
G |
A |
13: 118,111,901 (GRCm39) |
V622I |
unknown |
Het |
| Hipk4 |
A |
G |
7: 27,228,834 (GRCm39) |
D428G |
probably damaging |
Het |
| Hs3st1 |
T |
C |
5: 39,772,145 (GRCm39) |
Y166C |
probably damaging |
Het |
| Hsd17b3 |
A |
G |
13: 64,206,459 (GRCm39) |
F281S |
possibly damaging |
Het |
| Ifih1 |
T |
C |
2: 62,475,950 (GRCm39) |
T109A |
probably benign |
Het |
| Ighv1-64 |
T |
A |
12: 115,471,645 (GRCm39) |
|
probably benign |
Het |
| Ina |
T |
C |
19: 47,003,816 (GRCm39) |
L208P |
|
Het |
| Iqcn |
C |
T |
8: 71,161,794 (GRCm39) |
T329I |
possibly damaging |
Het |
| Irak2 |
T |
C |
6: 113,615,604 (GRCm39) |
|
probably null |
Het |
| Klhl10 |
G |
A |
11: 100,338,481 (GRCm39) |
E407K |
probably benign |
Het |
| Krt81 |
A |
G |
15: 101,361,335 (GRCm39) |
S82P |
probably damaging |
Het |
| Ktn1 |
C |
A |
14: 47,948,353 (GRCm39) |
Q963K |
probably benign |
Het |
| Lgalsl2 |
G |
A |
7: 5,362,527 (GRCm39) |
V53I |
possibly damaging |
Het |
| Lrrc42 |
A |
T |
4: 107,104,913 (GRCm39) |
Y17* |
probably null |
Het |
| Lrrc9 |
A |
C |
12: 72,496,171 (GRCm39) |
E15D |
probably damaging |
Het |
| Mak |
G |
A |
13: 41,202,839 (GRCm39) |
T203I |
probably benign |
Het |
| Masp2 |
T |
C |
4: 148,692,485 (GRCm39) |
V326A |
possibly damaging |
Het |
| Mdc1 |
T |
C |
17: 36,164,258 (GRCm39) |
S1269P |
probably benign |
Het |
| Mink1 |
G |
A |
11: 70,502,477 (GRCm39) |
V1027M |
probably damaging |
Het |
| Mrps10 |
C |
A |
17: 47,686,903 (GRCm39) |
S123* |
probably null |
Het |
| Myl10 |
C |
T |
5: 136,729,787 (GRCm39) |
H142Y |
probably damaging |
Het |
| Ncan |
T |
C |
8: 70,560,648 (GRCm39) |
Q773R |
possibly damaging |
Het |
| Nlrp3 |
T |
A |
11: 59,434,141 (GRCm39) |
M68K |
probably damaging |
Het |
| Ntrk1 |
C |
T |
3: 87,698,745 (GRCm39) |
V99M |
possibly damaging |
Het |
| Odad3 |
T |
C |
9: 21,903,207 (GRCm39) |
E402G |
probably damaging |
Het |
| Or4p22 |
C |
T |
2: 88,317,787 (GRCm39) |
T237I |
probably damaging |
Het |
| Or5an1 |
A |
G |
19: 12,260,939 (GRCm39) |
R176G |
probably benign |
Het |
| Or8c8 |
A |
G |
9: 38,164,962 (GRCm39) |
K80R |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,595,437 (GRCm39) |
V830A |
probably damaging |
Het |
| Phospho2 |
T |
C |
2: 69,625,913 (GRCm39) |
V23A |
probably damaging |
Het |
| Plxnc1 |
G |
A |
10: 94,780,685 (GRCm39) |
|
probably benign |
Het |
| Ppcdc |
T |
C |
9: 57,342,280 (GRCm39) |
E14G |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,302,645 (GRCm39) |
Y106C |
probably damaging |
Het |
| Rgs22 |
T |
C |
15: 36,087,544 (GRCm39) |
Q582R |
probably benign |
Het |
| Rngtt |
T |
A |
4: 33,320,613 (GRCm39) |
Y53* |
probably null |
Het |
| Slc12a3 |
T |
G |
8: 95,083,028 (GRCm39) |
|
probably null |
Het |
| Slc26a11 |
A |
G |
11: 119,267,730 (GRCm39) |
T456A |
probably benign |
Het |
| Slc26a5 |
G |
T |
5: 22,018,334 (GRCm39) |
A677E |
possibly damaging |
Het |
| Smurf1 |
T |
C |
5: 144,817,463 (GRCm39) |
T690A |
probably benign |
Het |
| Spata24 |
A |
T |
18: 35,790,064 (GRCm39) |
N142K |
probably damaging |
Het |
| Uggt2 |
A |
G |
14: 119,312,741 (GRCm39) |
|
probably null |
Het |
| Vmn1r2 |
C |
A |
4: 3,172,678 (GRCm39) |
A199D |
probably damaging |
Het |
| Vmn2r39 |
T |
C |
7: 9,030,684 (GRCm39) |
N128S |
probably damaging |
Het |
| Vmn2r61 |
G |
T |
7: 41,916,619 (GRCm39) |
V411F |
probably benign |
Het |
| Vmn2r-ps117 |
T |
A |
17: 19,042,911 (GRCm39) |
F106L |
probably benign |
Het |
| Zfp503 |
A |
T |
14: 22,035,353 (GRCm39) |
I521N |
possibly damaging |
Het |
| Zfp831 |
T |
C |
2: 174,547,113 (GRCm39) |
V1432A |
probably benign |
Het |
| Zfp981 |
T |
A |
4: 146,619,884 (GRCm39) |
L13I |
possibly 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 |
|
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 |
|
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'- TGGCTGCTGGATCTGCATTATC -3'
(R):5'- TCACTCTTTCCGGAACCTGG -3'
Sequencing Primer
(F):5'- CATTATCTCTTGGATGATGGCAAG -3'
(R):5'- TCTTTCCGGAACCTGGTAACCAAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation