Incidental Mutation 'R3712:Ubqlnl'
ID |
259663 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ubqlnl
|
Ensembl Gene |
ENSMUSG00000051437 |
Gene Name |
ubiquilin-like |
Synonyms |
4922504M18Rik, LOC244179 |
MMRRC Submission |
040705-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.134)
|
Stock # |
R3712 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
103797466-103799763 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 103798345 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 384
(I384N)
|
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: I384N
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000056365 Gene: ENSMUSG00000051437 AA Change: I384N
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: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (59/59) |
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 |
2310079G19Rik |
C |
A |
16: 88,424,411 (GRCm39) |
V27F |
unknown |
Het |
Akr1c20 |
T |
C |
13: 4,560,222 (GRCm39) |
E152G |
probably damaging |
Het |
Alx4 |
G |
A |
2: 93,473,134 (GRCm39) |
G44D |
possibly damaging |
Het |
Arhgap31 |
T |
A |
16: 38,422,895 (GRCm39) |
E1057V |
possibly damaging |
Het |
Arhgef26 |
A |
T |
3: 62,331,050 (GRCm39) |
D588V |
probably damaging |
Het |
Bag2 |
T |
A |
1: 33,785,997 (GRCm39) |
E108D |
probably benign |
Het |
Ccdc162 |
C |
T |
10: 41,463,375 (GRCm39) |
V183I |
probably benign |
Het |
Ccdc83 |
A |
G |
7: 89,885,563 (GRCm39) |
|
probably benign |
Het |
Ccnyl1 |
G |
A |
1: 64,753,827 (GRCm39) |
E137K |
probably damaging |
Het |
Celsr2 |
T |
C |
3: 108,308,155 (GRCm39) |
T1849A |
probably benign |
Het |
Cep192 |
C |
A |
18: 67,953,400 (GRCm39) |
D472E |
probably benign |
Het |
Cep57l1 |
A |
G |
10: 41,619,110 (GRCm39) |
Y86H |
probably damaging |
Het |
Cep95 |
G |
T |
11: 106,702,112 (GRCm39) |
E370* |
probably null |
Het |
Cldn10 |
A |
G |
14: 119,092,522 (GRCm39) |
T41A |
probably damaging |
Het |
Clptm1l |
T |
A |
13: 73,764,157 (GRCm39) |
Y426N |
probably benign |
Het |
Dipk1b |
T |
C |
2: 26,522,650 (GRCm39) |
L33S |
possibly damaging |
Het |
Eps15 |
T |
C |
4: 109,166,374 (GRCm39) |
V89A |
probably damaging |
Het |
Fam53b |
A |
G |
7: 132,361,654 (GRCm39) |
S125P |
probably damaging |
Het |
Fbxo44 |
A |
T |
4: 148,240,461 (GRCm39) |
W256R |
probably benign |
Het |
Gnl2 |
T |
C |
4: 124,940,067 (GRCm39) |
V313A |
probably damaging |
Het |
Hyal4 |
A |
G |
6: 24,756,513 (GRCm39) |
R244G |
probably damaging |
Het |
Irf6 |
G |
T |
1: 192,844,931 (GRCm39) |
W134L |
probably benign |
Het |
Kcnu1 |
A |
G |
8: 26,371,448 (GRCm39) |
T286A |
probably damaging |
Het |
Lpcat2 |
T |
C |
8: 93,644,798 (GRCm39) |
V529A |
possibly damaging |
Het |
Lrfn2 |
A |
G |
17: 49,378,188 (GRCm39) |
E423G |
possibly damaging |
Het |
Lrp8 |
G |
T |
4: 107,705,499 (GRCm39) |
R209L |
probably benign |
Het |
Mgll |
T |
C |
6: 88,741,570 (GRCm39) |
|
probably benign |
Het |
Mix23 |
T |
C |
16: 35,901,775 (GRCm39) |
|
probably null |
Het |
Mta3 |
A |
G |
17: 84,070,417 (GRCm39) |
I193V |
probably damaging |
Het |
Nedd4l |
G |
A |
18: 65,342,790 (GRCm39) |
V909I |
possibly damaging |
Het |
Or10al5 |
T |
A |
17: 38,063,271 (GRCm39) |
C175* |
probably null |
Het |
Or3a1d |
A |
T |
11: 74,238,023 (GRCm39) |
I129N |
probably damaging |
Het |
Or5p66 |
A |
T |
7: 107,885,663 (GRCm39) |
Y223* |
probably null |
Het |
Or6c206 |
A |
T |
10: 129,097,093 (GRCm39) |
K88* |
probably null |
Het |
Orc1 |
T |
C |
4: 108,461,218 (GRCm39) |
V526A |
probably damaging |
Het |
Pard3b |
T |
C |
1: 62,383,137 (GRCm39) |
S744P |
probably damaging |
Het |
Pcnx3 |
G |
A |
19: 5,733,367 (GRCm39) |
Q155* |
probably null |
Het |
Pcnx3 |
C |
G |
19: 5,733,368 (GRCm39) |
L1F |
probably null |
Het |
Pdcd11 |
T |
A |
19: 47,115,684 (GRCm39) |
|
probably benign |
Het |
Pi4k2a |
G |
A |
19: 42,079,131 (GRCm39) |
R64Q |
probably damaging |
Het |
Pigt |
A |
G |
2: 164,343,565 (GRCm39) |
D347G |
probably benign |
Het |
Rbm27 |
T |
C |
18: 42,425,177 (GRCm39) |
|
probably benign |
Het |
Rpl7a-ps10 |
A |
G |
9: 97,061,926 (GRCm39) |
E232G |
probably damaging |
Het |
Rprd2 |
A |
G |
3: 95,671,872 (GRCm39) |
L1177P |
probably damaging |
Het |
Rrn3 |
T |
A |
16: 13,601,959 (GRCm39) |
L71* |
probably null |
Het |
Sbspon |
A |
G |
1: 15,962,669 (GRCm39) |
C70R |
probably damaging |
Het |
Smtn |
A |
T |
11: 3,482,865 (GRCm39) |
|
probably null |
Het |
Son |
A |
G |
16: 91,453,614 (GRCm39) |
D787G |
probably damaging |
Het |
Sphkap |
C |
T |
1: 83,254,833 (GRCm39) |
S972N |
probably benign |
Het |
Spopl |
C |
T |
2: 23,427,392 (GRCm39) |
R221Q |
probably damaging |
Het |
Srp14 |
A |
C |
2: 118,309,440 (GRCm39) |
L58V |
probably null |
Het |
Sun2 |
A |
G |
15: 79,612,114 (GRCm39) |
S522P |
possibly damaging |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Trdn |
T |
C |
10: 33,033,162 (GRCm39) |
I129T |
probably benign |
Het |
Trpv3 |
A |
G |
11: 73,169,780 (GRCm39) |
K117R |
probably benign |
Het |
Ush2a |
G |
A |
1: 188,542,489 (GRCm39) |
G3352S |
probably benign |
Het |
Vmn1r59 |
A |
T |
7: 5,457,637 (GRCm39) |
I41K |
probably damaging |
Het |
Vmn2r125 |
T |
A |
4: 156,702,419 (GRCm39) |
Y68* |
probably null |
Het |
Zpld1 |
A |
T |
16: 55,046,799 (GRCm39) |
L390* |
probably null |
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 |
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'- ACTGCTCATTCAGTTGGGACG -3'
(R):5'- CAATGGGACCAGCTCTCTTC -3'
Sequencing Primer
(F):5'- CGTATTCATGAGCAGCAGCATCTG -3'
(R):5'- GGACCAGCTCTCTTCTTCCCAAG -3'
|
Posted On |
2015-01-23 |