Incidental Mutation 'R6272:Ubqln3'
| ID |
507396 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubqln3
|
| Ensembl Gene |
ENSMUSG00000051618 |
| Gene Name |
ubiquilin 3 |
| Synonyms |
4933400K24Rik |
| MMRRC Submission |
044442-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R6272 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
104140623-104143279 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 104142178 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 235
(R235H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057254]
[ENSMUST00000138055]
|
| AlphaFold |
Q8C5U9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057254
AA Change: R235H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055229
Gene: ENSMUSG00000051618
AA Change: R235H
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
22 |
92 |
1.56e-15 |
SMART |
|
low complexity region
|
103 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
151 |
N/A |
INTRINSIC |
|
STI1
|
194 |
233 |
4.25e-7 |
SMART |
|
low complexity region
|
280 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
505 |
515 |
N/A |
INTRINSIC |
|
UBA
|
619 |
657 |
4.22e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138055
|
| SMART Domains |
Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (55/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and are thus thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This gene is specifically expressed in the testis. It has been suggested that this gene may regulate cell-cycle progression during spermatogenesis, however, it has been shown that the ortholgous mouse gene is dispensable for embryonic development and spermatogenesis. [provided by RefSeq, Nov 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and developmentally normal with no apparent defects in male fertility or 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 |
|---|
| Adgra3 |
A |
T |
5: 50,009,449 (GRCm38) |
M187K |
possibly damaging |
Het |
| Adgrg3 |
A |
G |
8: 95,036,261 (GRCm38) |
I189V |
noncoding transcript |
Het |
| Ampd1 |
A |
G |
3: 103,085,383 (GRCm38) |
K147R |
possibly damaging |
Het |
| Apbb2 |
T |
C |
5: 66,311,072 (GRCm38) |
T561A |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,646,963 (GRCm38) |
D438E |
probably benign |
Het |
| Atxn1 |
T |
A |
13: 45,567,762 (GRCm38) |
Q219L |
possibly damaging |
Het |
| AW551984 |
A |
T |
9: 39,598,037 (GRCm38) |
D269E |
probably benign |
Het |
| Cryab |
A |
G |
9: 50,754,525 (GRCm38) |
K72R |
possibly damaging |
Het |
| Dbn1 |
G |
A |
13: 55,475,104 (GRCm38) |
A522V |
probably benign |
Het |
| Dip2a |
A |
T |
10: 76,286,407 (GRCm38) |
*158R |
probably null |
Het |
| Edrf1 |
C |
T |
7: 133,637,808 (GRCm38) |
|
probably benign |
Het |
| Ern2 |
A |
T |
7: 122,176,646 (GRCm38) |
D408E |
probably benign |
Het |
| F830016B08Rik |
T |
C |
18: 60,300,078 (GRCm38) |
S78P |
probably damaging |
Het |
| Fah |
C |
A |
7: 84,595,545 (GRCm38) |
G137C |
probably damaging |
Het |
| Fam208b |
C |
T |
13: 3,581,891 (GRCm38) |
R870H |
possibly damaging |
Het |
| Foxd3 |
A |
G |
4: 99,656,740 (GRCm38) |
D39G |
probably damaging |
Het |
| Gm3854 |
C |
T |
7: 6,353,845 (GRCm38) |
P219L |
probably damaging |
Het |
| Gprin3 |
G |
A |
6: 59,353,331 (GRCm38) |
Q664* |
probably null |
Het |
| H2-Ob |
T |
C |
17: 34,242,644 (GRCm38) |
I119T |
probably benign |
Het |
| Hist1h3e |
A |
T |
13: 23,562,226 (GRCm38) |
V47E |
probably damaging |
Het |
| Hmgcll1 |
G |
A |
9: 76,130,345 (GRCm38) |
G174R |
probably damaging |
Het |
| Kbtbd11 |
T |
A |
8: 15,029,118 (GRCm38) |
C572* |
probably null |
Het |
| Kynu |
A |
T |
2: 43,634,989 (GRCm38) |
N315Y |
probably benign |
Het |
| Map1lc3b |
G |
A |
8: 121,596,690 (GRCm38) |
E100K |
probably benign |
Het |
| Matn2 |
T |
A |
15: 34,355,607 (GRCm38) |
Q33L |
possibly damaging |
Het |
| Mettl8 |
T |
C |
2: 70,976,075 (GRCm38) |
|
probably null |
Het |
| Neto1 |
A |
T |
18: 86,494,815 (GRCm38) |
N312Y |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,524,505 (GRCm38) |
D493G |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,170,024 (GRCm38) |
E889G |
possibly damaging |
Het |
| Olfr1153 |
G |
A |
2: 87,896,657 (GRCm38) |
V153I |
probably benign |
Het |
| Olfr1383 |
C |
A |
11: 49,524,126 (GRCm38) |
S134R |
possibly damaging |
Het |
| Olfr1402 |
A |
G |
3: 97,410,891 (GRCm38) |
F97L |
probably benign |
Het |
| Olfr209 |
A |
C |
16: 59,361,585 (GRCm38) |
M211R |
possibly damaging |
Het |
| Olfr296-ps1 |
A |
G |
7: 86,561,873 (GRCm38) |
Y47C |
unknown |
Het |
| Olfr420 |
C |
T |
1: 174,159,175 (GRCm38) |
T134I |
probably benign |
Het |
| Olfr967 |
A |
T |
9: 39,750,520 (GRCm38) |
M45L |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,997,037 (GRCm38) |
A91S |
probably damaging |
Het |
| Phc2 |
A |
G |
4: 128,709,647 (GRCm38) |
Y190C |
probably damaging |
Het |
| Platr25 |
T |
C |
13: 62,672,997 (GRCm38) |
T347A |
possibly damaging |
Het |
| Plec |
T |
C |
15: 76,174,853 (GRCm38) |
E3655G |
probably damaging |
Het |
| Plekhg3 |
A |
T |
12: 76,576,845 (GRCm38) |
Q954L |
probably benign |
Het |
| Pnpla1 |
G |
A |
17: 28,881,368 (GRCm38) |
G403E |
probably benign |
Het |
| Prdm4 |
G |
A |
10: 85,907,830 (GRCm38) |
T187I |
possibly damaging |
Het |
| Prg4 |
T |
C |
1: 150,454,766 (GRCm38) |
|
probably benign |
Het |
| Prpf18 |
G |
A |
2: 4,633,447 (GRCm38) |
R312W |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,414,548 (GRCm38) |
V535D |
probably damaging |
Het |
| Rtcb |
A |
T |
10: 85,955,774 (GRCm38) |
N39K |
probably damaging |
Het |
| Slc4a3 |
G |
A |
1: 75,554,697 (GRCm38) |
|
probably null |
Het |
| Szt2 |
A |
C |
4: 118,374,290 (GRCm38) |
|
probably benign |
Het |
| Tfap2e |
A |
T |
4: 126,721,864 (GRCm38) |
V259D |
probably damaging |
Het |
| Trav19 |
A |
G |
14: 53,845,798 (GRCm38) |
D110G |
probably damaging |
Het |
| Ttc17 |
A |
C |
2: 94,358,755 (GRCm38) |
C749W |
probably damaging |
Het |
| Ttc8 |
A |
G |
12: 98,982,494 (GRCm38) |
K490E |
possibly damaging |
Het |
| Ube4b |
A |
G |
4: 149,387,133 (GRCm38) |
S99P |
probably damaging |
Het |
| Vmn2r61 |
A |
T |
7: 42,299,818 (GRCm38) |
D554V |
probably damaging |
Het |
| Vmn2r70 |
A |
T |
7: 85,558,986 (GRCm38) |
V761E |
probably damaging |
Het |
| Vmn2r97 |
T |
C |
17: 18,947,599 (GRCm38) |
I705T |
possibly damaging |
Het |
| Wwox |
G |
A |
8: 114,488,952 (GRCm38) |
C155Y |
probably damaging |
Het |
| Zfp451 |
T |
C |
1: 33,803,244 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Ubqln3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00656:Ubqln3
|
APN |
7 |
104,141,777 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00766:Ubqln3
|
APN |
7 |
104,142,824 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01451:Ubqln3
|
APN |
7 |
104,142,196 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL01673:Ubqln3
|
APN |
7 |
104,142,398 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL01705:Ubqln3
|
APN |
7 |
104,142,677 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01988:Ubqln3
|
APN |
7 |
104,142,882 (GRCm38) |
utr 5 prime |
probably benign |
|
|
IGL02008:Ubqln3
|
APN |
7 |
104,142,316 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02072:Ubqln3
|
APN |
7 |
104,141,299 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
IGL02546:Ubqln3
|
APN |
7 |
104,142,518 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02657:Ubqln3
|
APN |
7 |
104,141,963 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02682:Ubqln3
|
APN |
7 |
104,142,065 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL02709:Ubqln3
|
APN |
7 |
104,141,336 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL03357:Ubqln3
|
APN |
7 |
104,142,556 (GRCm38) |
missense |
probably benign |
|
|
PIT4544001:Ubqln3
|
UTSW |
7 |
104,141,343 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0180:Ubqln3
|
UTSW |
7 |
104,141,840 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0845:Ubqln3
|
UTSW |
7 |
104,142,068 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1019:Ubqln3
|
UTSW |
7 |
104,141,386 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1280:Ubqln3
|
UTSW |
7 |
104,142,076 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R1448:Ubqln3
|
UTSW |
7 |
104,142,790 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1550:Ubqln3
|
UTSW |
7 |
104,141,546 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1617:Ubqln3
|
UTSW |
7 |
104,142,860 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1650:Ubqln3
|
UTSW |
7 |
104,141,021 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R2060:Ubqln3
|
UTSW |
7 |
104,142,151 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2246:Ubqln3
|
UTSW |
7 |
104,142,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2263:Ubqln3
|
UTSW |
7 |
104,141,635 (GRCm38) |
nonsense |
probably null |
|
|
R2366:Ubqln3
|
UTSW |
7 |
104,141,049 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4232:Ubqln3
|
UTSW |
7 |
104,141,803 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4447:Ubqln3
|
UTSW |
7 |
104,142,814 (GRCm38) |
missense |
probably benign |
0.31 |
|
R4509:Ubqln3
|
UTSW |
7 |
104,141,444 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4604:Ubqln3
|
UTSW |
7 |
104,142,491 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5416:Ubqln3
|
UTSW |
7 |
104,141,672 (GRCm38) |
missense |
probably benign |
0.34 |
|
R5617:Ubqln3
|
UTSW |
7 |
104,142,433 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5648:Ubqln3
|
UTSW |
7 |
104,140,910 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5722:Ubqln3
|
UTSW |
7 |
104,141,467 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5723:Ubqln3
|
UTSW |
7 |
104,141,467 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5724:Ubqln3
|
UTSW |
7 |
104,141,467 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5819:Ubqln3
|
UTSW |
7 |
104,141,467 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5820:Ubqln3
|
UTSW |
7 |
104,141,467 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5966:Ubqln3
|
UTSW |
7 |
104,141,699 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6260:Ubqln3
|
UTSW |
7 |
104,142,317 (GRCm38) |
nonsense |
probably null |
|
|
R6542:Ubqln3
|
UTSW |
7 |
104,141,617 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6936:Ubqln3
|
UTSW |
7 |
104,142,310 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7023:Ubqln3
|
UTSW |
7 |
104,141,423 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7025:Ubqln3
|
UTSW |
7 |
104,141,275 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7079:Ubqln3
|
UTSW |
7 |
104,141,371 (GRCm38) |
missense |
probably benign |
0.12 |
|
R7733:Ubqln3
|
UTSW |
7 |
104,141,076 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7764:Ubqln3
|
UTSW |
7 |
104,141,236 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R7919:Ubqln3
|
UTSW |
7 |
104,141,192 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7961:Ubqln3
|
UTSW |
7 |
104,142,590 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8009:Ubqln3
|
UTSW |
7 |
104,142,590 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9619:Ubqln3
|
UTSW |
7 |
104,141,846 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9652:Ubqln3
|
UTSW |
7 |
104,142,755 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF054:Ubqln3
|
UTSW |
7 |
104,141,178 (GRCm38) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGAGGGTCACAATTCTCTG -3'
(R):5'- TGGCTCAGCTCGTTGATGAC -3'
Sequencing Primer
(F):5'- AGAGGGTCACAATTCTCTGTCCTTG -3'
(R):5'- GTTGATGACCCCTTTATCCAGG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation