Incidental Mutation 'R4400:Ubqln1'
| ID |
326602 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubqln1
|
| Ensembl Gene |
ENSMUSG00000005312 |
| Gene Name |
ubiquilin 1 |
| Synonyms |
XDRP1, 1110046H03Rik, 1810030E05Rik, Plic-1, D13Ertd372e, DA41, Dsk2 |
| MMRRC Submission |
041131-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.758)
|
| Stock # |
R4400 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
58323970-58363467 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58341202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 183
(N183I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075782
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058735]
[ENSMUST00000076454]
|
| AlphaFold |
Q8R317 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058735
AA Change: N183I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000050191
Gene: ENSMUSG00000005312
AA Change: N183I
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
28 |
98 |
7.78e-16 |
SMART |
|
low complexity region
|
136 |
154 |
N/A |
INTRINSIC |
|
STI1
|
173 |
201 |
6e0 |
SMART |
|
STI1
|
203 |
242 |
6.75e-10 |
SMART |
|
low complexity region
|
316 |
356 |
N/A |
INTRINSIC |
|
STI1
|
381 |
428 |
2.62e-7 |
SMART |
|
STI1
|
432 |
464 |
3.1e0 |
SMART |
|
low complexity region
|
483 |
499 |
N/A |
INTRINSIC |
|
UBA
|
540 |
578 |
1.77e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076454
AA Change: N183I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000075782
Gene: ENSMUSG00000005312
AA Change: N183I
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
28 |
98 |
7.78e-16 |
SMART |
|
low complexity region
|
136 |
154 |
N/A |
INTRINSIC |
|
STI1
|
173 |
201 |
6e0 |
SMART |
|
STI1
|
203 |
242 |
6.75e-10 |
SMART |
|
low complexity region
|
316 |
356 |
N/A |
INTRINSIC |
|
STI1
|
381 |
420 |
2.24e-6 |
SMART |
|
low complexity region
|
455 |
471 |
N/A |
INTRINSIC |
|
UBA
|
512 |
550 |
1.77e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224851
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an 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 thus are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and it is found in lesions associated with Alzheimer's and Parkinson's disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null animals display impaired degradation of ubiquitinated proteins in the brain, increased ischemia/reperfusion-caused brain injury, and slower functional recovery after injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp4b |
A |
G |
8: 13,438,810 (GRCm39) |
F189L |
probably damaging |
Het |
| Atp8a1 |
A |
T |
5: 67,922,221 (GRCm39) |
Y372N |
probably benign |
Het |
| Bves |
T |
C |
10: 45,245,389 (GRCm39) |
V354A |
probably benign |
Het |
| Cd79b |
A |
T |
11: 106,202,836 (GRCm39) |
Y195* |
probably null |
Het |
| Cog6 |
A |
C |
3: 52,920,362 (GRCm39) |
D131E |
probably benign |
Het |
| Elp3 |
C |
T |
14: 65,785,539 (GRCm39) |
E421K |
possibly damaging |
Het |
| Fbxw28 |
A |
T |
9: 109,157,378 (GRCm39) |
F237Y |
probably damaging |
Het |
| Fezf1 |
T |
C |
6: 23,247,709 (GRCm39) |
N122S |
probably benign |
Het |
| Galnt2 |
A |
G |
8: 125,051,042 (GRCm39) |
K157E |
probably damaging |
Het |
| Git2 |
T |
C |
5: 114,871,970 (GRCm39) |
E141G |
possibly damaging |
Het |
| Gm26888 |
T |
C |
11: 119,044,853 (GRCm39) |
|
silent |
Het |
| Gnrhr |
T |
C |
5: 86,330,108 (GRCm39) |
|
probably null |
Het |
| Hoxd13 |
A |
T |
2: 74,500,359 (GRCm39) |
D300V |
probably damaging |
Het |
| Hspg2 |
G |
A |
4: 137,275,433 (GRCm39) |
A2748T |
probably benign |
Het |
| Hyal2 |
A |
G |
9: 107,448,052 (GRCm39) |
N235S |
probably damaging |
Het |
| Itgam |
T |
G |
7: 127,680,830 (GRCm39) |
L253R |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Matr3 |
A |
T |
18: 35,716,969 (GRCm39) |
K591N |
possibly damaging |
Het |
| Mep1a |
T |
A |
17: 43,785,897 (GRCm39) |
I731F |
possibly damaging |
Het |
| Mrtfa |
G |
A |
15: 80,905,124 (GRCm39) |
Q103* |
probably null |
Het |
| Muc5b |
A |
G |
7: 141,415,124 (GRCm39) |
D2690G |
possibly damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,220,981 (GRCm39) |
Q1140R |
probably benign |
Het |
| Or14c39 |
A |
G |
7: 86,343,798 (GRCm39) |
I45V |
probably benign |
Het |
| Or5ac23 |
C |
T |
16: 59,148,961 (GRCm39) |
V304I |
probably benign |
Het |
| Or6b6 |
A |
G |
7: 106,571,209 (GRCm39) |
L114P |
probably damaging |
Het |
| Plcl1 |
T |
C |
1: 55,754,736 (GRCm39) |
F1028L |
probably damaging |
Het |
| Plpp2 |
A |
G |
10: 79,363,327 (GRCm39) |
V106A |
possibly damaging |
Het |
| Prpf8 |
A |
G |
11: 75,381,528 (GRCm39) |
T255A |
possibly damaging |
Het |
| Shoc2 |
A |
G |
19: 54,019,660 (GRCm39) |
I568V |
probably benign |
Het |
| Spopl |
C |
T |
2: 23,407,957 (GRCm39) |
V241M |
probably damaging |
Het |
| Ssrp1 |
A |
T |
2: 84,868,285 (GRCm39) |
D9V |
probably damaging |
Het |
| Strn3 |
A |
T |
12: 51,694,883 (GRCm39) |
D293E |
possibly damaging |
Het |
| Tbx3 |
G |
T |
5: 119,818,636 (GRCm39) |
D404Y |
probably damaging |
Het |
| Tdrd7 |
T |
C |
4: 46,005,540 (GRCm39) |
S416P |
possibly damaging |
Het |
| Trim60 |
G |
T |
8: 65,453,864 (GRCm39) |
Y128* |
probably null |
Het |
| Tspoap1 |
T |
C |
11: 87,666,429 (GRCm39) |
S947P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,612,739 (GRCm39) |
S17113R |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,189,167 (GRCm39) |
N3917D |
possibly damaging |
Het |
| Ucp2 |
A |
G |
7: 100,148,557 (GRCm39) |
*310W |
probably null |
Het |
| Wdr76 |
A |
G |
2: 121,359,314 (GRCm39) |
M218V |
probably damaging |
Het |
| Zranb3 |
A |
C |
1: 127,884,392 (GRCm39) |
L998R |
possibly damaging |
Het |
| Zxdc |
G |
A |
6: 90,346,792 (GRCm39) |
G51E |
probably damaging |
Het |
|
| Other mutations in Ubqln1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Ubqln1
|
APN |
13 |
58,325,806 (GRCm39) |
nonsense |
probably null |
|
|
IGL01566:Ubqln1
|
APN |
13 |
58,327,481 (GRCm39) |
splice site |
probably null |
|
|
IGL02160:Ubqln1
|
APN |
13 |
58,339,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03171:Ubqln1
|
APN |
13 |
58,328,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0140:Ubqln1
|
UTSW |
13 |
58,341,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1676:Ubqln1
|
UTSW |
13 |
58,327,205 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1712:Ubqln1
|
UTSW |
13 |
58,339,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5194:Ubqln1
|
UTSW |
13 |
58,346,847 (GRCm39) |
missense |
probably benign |
|
|
R5419:Ubqln1
|
UTSW |
13 |
58,330,997 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5778:Ubqln1
|
UTSW |
13 |
58,331,131 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6198:Ubqln1
|
UTSW |
13 |
58,344,404 (GRCm39) |
missense |
probably benign |
|
|
R7829:Ubqln1
|
UTSW |
13 |
58,325,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8479:Ubqln1
|
UTSW |
13 |
58,339,653 (GRCm39) |
missense |
probably benign |
|
|
R8523:Ubqln1
|
UTSW |
13 |
58,339,569 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8834:Ubqln1
|
UTSW |
13 |
58,331,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9256:Ubqln1
|
UTSW |
13 |
58,325,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTAAATAATGGTTGGGATTCTCTC -3'
(R):5'- GGGTACACTTCATACCTAAGCCG -3'
Sequencing Primer
(F):5'- AAAATACACAAGGCAATCTCTGG -3'
(R):5'- TTCATACCTAAGCCGTAGCATAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation