Incidental Mutation 'R5542:Ubqlnl'
ID |
436033 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ubqlnl
|
Ensembl Gene |
ENSMUSG00000051437 |
Gene Name |
ubiquilin-like |
Synonyms |
4922504M18Rik, LOC244179 |
MMRRC Submission |
043100-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
R5542 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
103797466-103799763 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 103798904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 198
(Q198*)
|
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 null
Transcript: ENSMUST00000059121
AA Change: Q198*
|
SMART Domains |
Protein: ENSMUSP00000056365 Gene: ENSMUSG00000051437 AA Change: Q198*
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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2 |
C |
T |
3: 59,932,484 (GRCm39) |
T333I |
probably damaging |
Het |
Acacb |
C |
T |
5: 114,333,798 (GRCm39) |
R574C |
probably damaging |
Het |
Actr10 |
T |
C |
12: 71,001,430 (GRCm39) |
|
probably benign |
Het |
Ankdd1a |
T |
A |
9: 65,411,472 (GRCm39) |
|
probably null |
Het |
Anks4b |
C |
T |
7: 119,781,646 (GRCm39) |
Q226* |
probably null |
Het |
AW146154 |
C |
A |
7: 41,130,801 (GRCm39) |
G105V |
probably benign |
Het |
Cdh4 |
T |
A |
2: 179,502,019 (GRCm39) |
N326K |
probably damaging |
Het |
Cnbd1 |
T |
C |
4: 18,860,517 (GRCm39) |
T410A |
possibly damaging |
Het |
Cndp2 |
A |
T |
18: 84,690,201 (GRCm39) |
M247K |
probably damaging |
Het |
Crx |
G |
A |
7: 15,602,262 (GRCm39) |
R139C |
probably damaging |
Het |
Ctrc |
A |
G |
4: 141,571,037 (GRCm39) |
Y68H |
probably damaging |
Het |
Ddx4 |
T |
C |
13: 112,757,779 (GRCm39) |
D326G |
probably damaging |
Het |
Edem1 |
C |
T |
6: 108,831,290 (GRCm39) |
R584C |
possibly damaging |
Het |
Emcn |
A |
G |
3: 137,085,638 (GRCm39) |
T79A |
probably benign |
Het |
Ext1 |
C |
A |
15: 52,939,213 (GRCm39) |
W612L |
probably damaging |
Het |
Fbrsl1 |
C |
T |
5: 110,526,307 (GRCm39) |
G437R |
probably damaging |
Het |
Fbxo7 |
A |
C |
10: 85,869,149 (GRCm39) |
Q201P |
probably benign |
Het |
Fbxo9 |
T |
C |
9: 78,008,938 (GRCm39) |
M12V |
possibly damaging |
Het |
Fcgbpl1 |
A |
T |
7: 27,854,914 (GRCm39) |
I1847F |
probably damaging |
Het |
Flii |
A |
G |
11: 60,609,688 (GRCm39) |
S640P |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,812,207 (GRCm39) |
N2842I |
possibly damaging |
Het |
Fst |
G |
T |
13: 114,592,241 (GRCm39) |
Q159K |
probably damaging |
Het |
Fuom |
A |
T |
7: 139,680,025 (GRCm39) |
*109R |
probably null |
Het |
Hhipl2 |
A |
G |
1: 183,214,055 (GRCm39) |
D377G |
probably damaging |
Het |
Hspa14 |
A |
G |
2: 3,503,560 (GRCm39) |
V116A |
possibly damaging |
Het |
Ighm |
A |
G |
12: 113,382,601 (GRCm39) |
|
probably benign |
Het |
Ighv1-85 |
T |
A |
12: 115,963,847 (GRCm39) |
Y51F |
probably benign |
Het |
Ighv2-3 |
A |
T |
12: 113,574,833 (GRCm39) |
D107E |
probably benign |
Het |
Ighv2-6-8 |
T |
A |
12: 113,760,187 (GRCm39) |
M1L |
probably benign |
Het |
Ipo5 |
T |
C |
14: 121,163,683 (GRCm39) |
V247A |
probably benign |
Het |
Itga9 |
T |
C |
9: 118,672,729 (GRCm39) |
F154L |
possibly damaging |
Het |
Itprid1 |
C |
A |
6: 55,955,380 (GRCm39) |
P996Q |
probably damaging |
Het |
Knl1 |
T |
A |
2: 118,898,829 (GRCm39) |
C177S |
possibly damaging |
Het |
Lrrc17 |
G |
A |
5: 21,780,156 (GRCm39) |
G377S |
probably damaging |
Het |
Marveld3 |
A |
T |
8: 110,675,249 (GRCm39) |
I189K |
probably benign |
Het |
Msantd2 |
G |
A |
9: 37,428,555 (GRCm39) |
G185R |
probably damaging |
Het |
Mtcl1 |
G |
A |
17: 66,691,354 (GRCm39) |
|
probably benign |
Het |
Muc21 |
T |
C |
17: 35,933,395 (GRCm39) |
|
probably benign |
Het |
Mycbpap |
A |
T |
11: 94,398,572 (GRCm39) |
|
probably null |
Het |
Nbeal1 |
A |
G |
1: 60,316,353 (GRCm39) |
D1852G |
probably benign |
Het |
Ndc80 |
A |
T |
17: 71,807,276 (GRCm39) |
V560D |
probably benign |
Het |
Nscme3l |
A |
T |
19: 5,553,463 (GRCm39) |
V106D |
probably damaging |
Het |
Or1e25 |
T |
A |
11: 73,494,030 (GRCm39) |
V208E |
possibly damaging |
Het |
Or2t48 |
A |
C |
11: 58,420,710 (GRCm39) |
V34G |
probably benign |
Het |
Or56a3 |
A |
T |
7: 104,735,565 (GRCm39) |
D214V |
probably damaging |
Het |
Or6a2 |
A |
T |
7: 106,600,286 (GRCm39) |
S260R |
probably damaging |
Het |
Or9i1b |
T |
C |
19: 13,896,411 (GRCm39) |
V9A |
probably benign |
Het |
Pcdhga4 |
A |
T |
18: 37,819,651 (GRCm39) |
Y400F |
probably damaging |
Het |
Pkd2 |
A |
G |
5: 104,634,515 (GRCm39) |
|
silent |
Het |
Plxna4 |
T |
A |
6: 32,183,165 (GRCm39) |
I913F |
probably damaging |
Het |
Psmc1 |
T |
C |
12: 100,086,399 (GRCm39) |
|
probably null |
Het |
Robo2 |
G |
A |
16: 73,695,853 (GRCm39) |
T1430I |
probably benign |
Het |
Safb2 |
G |
A |
17: 56,882,647 (GRCm39) |
R329C |
probably damaging |
Het |
Septin14 |
T |
C |
5: 129,774,926 (GRCm39) |
H83R |
probably damaging |
Het |
Slc16a10 |
A |
G |
10: 39,952,784 (GRCm39) |
F237L |
probably benign |
Het |
Slc37a1 |
A |
T |
17: 31,559,236 (GRCm39) |
T439S |
probably damaging |
Het |
Slc6a6 |
T |
C |
6: 91,712,170 (GRCm39) |
F233S |
probably damaging |
Het |
Smyd3 |
A |
T |
1: 179,238,024 (GRCm39) |
D114E |
probably benign |
Het |
Sned1 |
T |
C |
1: 93,199,324 (GRCm39) |
I468T |
probably benign |
Het |
Speer4a1 |
T |
A |
5: 26,241,736 (GRCm39) |
N130I |
probably damaging |
Het |
Tdrd7 |
T |
C |
4: 46,029,757 (GRCm39) |
V1030A |
probably benign |
Het |
Trip12 |
A |
T |
1: 84,727,065 (GRCm39) |
D1135E |
probably damaging |
Het |
Tsga10 |
T |
A |
1: 37,800,598 (GRCm39) |
D542V |
probably damaging |
Het |
Unc93a2 |
A |
T |
17: 7,637,187 (GRCm39) |
C334S |
probably benign |
Het |
Usp46 |
A |
T |
5: 74,189,902 (GRCm39) |
M43K |
probably benign |
Het |
Vmn1r175 |
A |
T |
7: 23,508,531 (GRCm39) |
I32N |
possibly damaging |
Het |
Vmn1r29 |
C |
T |
6: 58,285,108 (GRCm39) |
T276I |
probably benign |
Het |
Vmn1r81 |
A |
T |
7: 11,994,034 (GRCm39) |
D191E |
probably damaging |
Het |
Zbtb5 |
C |
A |
4: 44,995,052 (GRCm39) |
V111F |
probably damaging |
Het |
Zfp12 |
C |
T |
5: 143,230,240 (GRCm39) |
P189L |
possibly damaging |
Het |
Zfp729b |
A |
G |
13: 67,739,140 (GRCm39) |
F1042L |
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 |
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'- CCAGGTGATTGTTCCCATTTGG -3'
(R):5'- CCAATCTGCAGGCATGAATG -3'
Sequencing Primer
(F):5'- TCTAAACCCAAGAATGGCTGTG -3'
(R):5'- GAAACTAAAGTGGAGTCATCTCTTC -3'
|
Posted On |
2016-10-24 |