Incidental Mutation 'R1686:Aup1'
ID |
189339 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aup1
|
Ensembl Gene |
ENSMUSG00000068328 |
Gene Name |
ancient ubiquitous protein 1 |
Synonyms |
|
MMRRC Submission |
039719-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.308)
|
Stock # |
R1686 (G1)
|
Quality Score |
207 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
83031483-83034663 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 83032226 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 131
(H131L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090281
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000707]
[ENSMUST00000077502]
[ENSMUST00000089645]
[ENSMUST00000092618]
[ENSMUST00000101257]
[ENSMUST00000113962]
[ENSMUST00000134606]
[ENSMUST00000113963]
[ENSMUST00000122955]
[ENSMUST00000204803]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000707
|
SMART Domains |
Protein: ENSMUSP00000000707 Gene: ENSMUSG00000000693
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
SR
|
45 |
146 |
2.1e-50 |
SMART |
SR
|
170 |
283 |
1.09e-25 |
SMART |
SR
|
308 |
408 |
3.72e-51 |
SMART |
SR
|
418 |
526 |
8.5e-37 |
SMART |
Pfam:Lysyl_oxidase
|
530 |
730 |
3.9e-103 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000077502
|
SMART Domains |
Protein: ENSMUSP00000076708 Gene: ENSMUSG00000009145
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
DEXDc
|
30 |
236 |
5.01e-4 |
SMART |
low complexity region
|
268 |
280 |
N/A |
INTRINSIC |
low complexity region
|
288 |
301 |
N/A |
INTRINSIC |
HA2
|
441 |
530 |
4e-19 |
SMART |
Pfam:OB_NTP_bind
|
555 |
674 |
2.2e-11 |
PFAM |
low complexity region
|
695 |
708 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000089645
|
SMART Domains |
Protein: ENSMUSP00000087073 Gene: ENSMUSG00000068329
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
106 |
125 |
N/A |
INTRINSIC |
low complexity region
|
128 |
143 |
N/A |
INTRINSIC |
Pfam:Trypsin
|
170 |
341 |
1.1e-14 |
PFAM |
Pfam:Trypsin_2
|
182 |
320 |
1.2e-34 |
PFAM |
PDZ
|
371 |
445 |
2.86e-10 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092618
AA Change: H131L
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000090281 Gene: ENSMUSG00000068328 AA Change: H131L
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
40 |
N/A |
INTRINSIC |
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
PlsC
|
119 |
222 |
1.04e-1 |
SMART |
low complexity region
|
307 |
322 |
N/A |
INTRINSIC |
CUE
|
325 |
366 |
1.3e-9 |
SMART |
low complexity region
|
378 |
392 |
N/A |
INTRINSIC |
low complexity region
|
421 |
439 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101257
|
SMART Domains |
Protein: ENSMUSP00000098815 Gene: ENSMUSG00000000693
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
SR
|
45 |
146 |
2.1e-50 |
SMART |
SR
|
170 |
283 |
1.09e-25 |
SMART |
SR
|
308 |
396 |
5.46e-17 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113962
|
SMART Domains |
Protein: ENSMUSP00000109595 Gene: ENSMUSG00000068329
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
106 |
125 |
N/A |
INTRINSIC |
low complexity region
|
128 |
143 |
N/A |
INTRINSIC |
Pfam:Trypsin_2
|
182 |
237 |
2.7e-12 |
PFAM |
Pfam:Trypsin
|
212 |
277 |
4.5e-6 |
PFAM |
PDZ
|
285 |
348 |
4.89e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154829
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203180
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203123
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144058
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203339
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155502
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203331
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132099
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134606
|
SMART Domains |
Protein: ENSMUSP00000115547 Gene: ENSMUSG00000068329
Domain | Start | End | E-Value | Type |
Pfam:Trypsin
|
7 |
180 |
2.7e-15 |
PFAM |
Pfam:Trypsin_2
|
20 |
158 |
3.1e-24 |
PFAM |
PDZ
|
209 |
283 |
2.86e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113963
|
SMART Domains |
Protein: ENSMUSP00000109596 Gene: ENSMUSG00000068329
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
106 |
125 |
N/A |
INTRINSIC |
low complexity region
|
128 |
143 |
N/A |
INTRINSIC |
Pfam:Trypsin
|
170 |
342 |
6.8e-15 |
PFAM |
Pfam:Trypsin_2
|
182 |
320 |
7.1e-24 |
PFAM |
PDZ
|
350 |
413 |
4.89e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150217
|
SMART Domains |
Protein: ENSMUSP00000118234 Gene: ENSMUSG00000068329
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
11 |
N/A |
INTRINSIC |
Pfam:Trypsin
|
41 |
215 |
1.6e-11 |
PFAM |
Pfam:Trypsin_2
|
53 |
190 |
1.8e-31 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122955
|
SMART Domains |
Protein: ENSMUSP00000138153 Gene: ENSMUSG00000068329
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
106 |
125 |
N/A |
INTRINSIC |
low complexity region
|
128 |
143 |
N/A |
INTRINSIC |
Pfam:Trypsin
|
170 |
321 |
2.1e-10 |
PFAM |
Pfam:Trypsin_2
|
182 |
317 |
9.5e-21 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000203915
AA Change: H119L
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204209
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204752
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204385
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205152
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204281
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204719
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204803
|
SMART Domains |
Protein: ENSMUSP00000144697 Gene: ENSMUSG00000009145
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
DEXDc
|
30 |
236 |
2.1e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204761
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204895
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204510
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205042
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203749
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204383
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204343
|
Meta Mutation Damage Score |
0.6821 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
Validation Efficiency |
100% (85/85) |
MGI Phenotype |
FUNCTION: The protein encoded by this gene contains several conserved domains including a hydrophobic domain, an acetyltransferase domain, a ubiquitin binding domain, and a domain required for recruitment of ubiquitin-conjugating enzyme E2 G2 (Ube2g2). In humans, this protein localizes to the endoplasmic reticulum and to lipid droplets. This protein is thought to be involved both in the degradation of misfolded proteins from the endoplasmic reticulum and in the storage of neutral lipids. Reduced expression of the human ortholog of this gene strongly reduces lipid droplet clustering in the cell, and causes stabilization of misfolded proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
G |
A |
10: 100,448,722 (GRCm39) |
V400I |
probably damaging |
Het |
Abcb1b |
A |
G |
5: 8,848,782 (GRCm39) |
N14S |
probably damaging |
Het |
Adamts14 |
A |
G |
10: 61,034,439 (GRCm39) |
Y1150H |
probably benign |
Het |
Adgrg3 |
A |
G |
8: 95,759,997 (GRCm39) |
N72S |
probably benign |
Het |
Akain1 |
T |
A |
17: 69,746,527 (GRCm39) |
F3I |
possibly damaging |
Het |
Akr1c21 |
T |
C |
13: 4,627,452 (GRCm39) |
L182P |
probably damaging |
Het |
Arhgap21 |
A |
T |
2: 20,886,659 (GRCm39) |
Y12N |
probably damaging |
Het |
Bag6 |
A |
G |
17: 35,363,928 (GRCm39) |
T812A |
possibly damaging |
Het |
Bmp2k |
A |
G |
5: 97,211,392 (GRCm39) |
Y520C |
unknown |
Het |
Calm4 |
T |
G |
13: 3,888,302 (GRCm39) |
V136G |
probably damaging |
Het |
Catsper2 |
A |
G |
2: 121,230,523 (GRCm39) |
|
probably null |
Het |
Cc2d2a |
A |
G |
5: 43,896,713 (GRCm39) |
T1537A |
possibly damaging |
Het |
Cntn2 |
A |
T |
1: 132,454,049 (GRCm39) |
V319D |
possibly damaging |
Het |
Cux1 |
G |
A |
5: 136,304,235 (GRCm39) |
R1314* |
probably null |
Het |
Cxcl12 |
A |
G |
6: 117,150,508 (GRCm39) |
I79V |
probably damaging |
Het |
Cyp2j6 |
T |
C |
4: 96,412,014 (GRCm39) |
D418G |
probably benign |
Het |
Ddx28 |
G |
C |
8: 106,737,190 (GRCm39) |
D289E |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fam135a |
A |
C |
1: 24,068,887 (GRCm39) |
S448A |
probably benign |
Het |
Fbxo33 |
G |
T |
12: 59,251,626 (GRCm39) |
N30K |
possibly damaging |
Het |
Fgf12 |
A |
C |
16: 28,217,093 (GRCm39) |
Y21D |
probably damaging |
Het |
Galntl5 |
C |
T |
5: 25,415,432 (GRCm39) |
S288L |
probably benign |
Het |
Gart |
G |
T |
16: 91,422,237 (GRCm39) |
A760D |
probably damaging |
Het |
Gba2 |
A |
T |
4: 43,573,869 (GRCm39) |
|
probably benign |
Het |
Gm10518 |
C |
A |
1: 179,631,357 (GRCm39) |
S139* |
probably null |
Het |
Gm4781 |
A |
T |
10: 100,232,837 (GRCm39) |
|
noncoding transcript |
Het |
Gm9790 |
A |
G |
3: 85,823,156 (GRCm39) |
|
noncoding transcript |
Het |
Gmps |
G |
A |
3: 63,893,075 (GRCm39) |
G127R |
probably damaging |
Het |
Golim4 |
A |
T |
3: 75,802,443 (GRCm39) |
V283E |
probably benign |
Het |
Gprc5a |
A |
T |
6: 135,055,918 (GRCm39) |
I122F |
possibly damaging |
Het |
Gzmc |
T |
C |
14: 56,471,341 (GRCm39) |
K67E |
probably benign |
Het |
Hapln3 |
C |
A |
7: 78,771,638 (GRCm39) |
V84L |
probably benign |
Het |
Hif3a |
T |
A |
7: 16,778,789 (GRCm39) |
N377Y |
possibly damaging |
Het |
Ifi211 |
G |
A |
1: 173,726,969 (GRCm39) |
H392Y |
probably damaging |
Het |
Iqgap3 |
T |
A |
3: 88,015,663 (GRCm39) |
|
probably benign |
Het |
Itga10 |
T |
A |
3: 96,559,141 (GRCm39) |
F410Y |
probably damaging |
Het |
Jup |
T |
C |
11: 100,263,260 (GRCm39) |
Y705C |
probably damaging |
Het |
Khsrp |
C |
T |
17: 57,332,597 (GRCm39) |
A228T |
probably benign |
Het |
Lmntd2 |
C |
T |
7: 140,790,998 (GRCm39) |
G445D |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,809,290 (GRCm39) |
V320A |
possibly damaging |
Het |
Magel2 |
T |
A |
7: 62,027,988 (GRCm39) |
H297Q |
possibly damaging |
Het |
Mbd6 |
T |
C |
10: 127,123,286 (GRCm39) |
E33G |
probably damaging |
Het |
Mob3b |
A |
G |
4: 34,985,910 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
Mymk |
A |
T |
2: 26,952,346 (GRCm39) |
W174R |
probably damaging |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Nipal3 |
T |
C |
4: 135,174,599 (GRCm39) |
Y384C |
possibly damaging |
Het |
Nt5c3b |
A |
G |
11: 100,330,920 (GRCm39) |
|
probably benign |
Het |
Obox6 |
T |
A |
7: 15,567,750 (GRCm39) |
L232F |
probably damaging |
Het |
Obscn |
A |
C |
11: 58,997,113 (GRCm39) |
|
probably benign |
Het |
Or7g12 |
T |
C |
9: 18,899,839 (GRCm39) |
L185P |
probably damaging |
Het |
Phkb |
A |
G |
8: 86,748,278 (GRCm39) |
I706V |
probably benign |
Het |
Plcb2 |
A |
G |
2: 118,546,168 (GRCm39) |
|
probably benign |
Het |
Plek2 |
T |
C |
12: 78,941,184 (GRCm39) |
D216G |
probably damaging |
Het |
Plxnb2 |
T |
C |
15: 89,046,665 (GRCm39) |
Y855C |
probably damaging |
Het |
Prkcz |
T |
C |
4: 155,355,713 (GRCm39) |
T227A |
probably damaging |
Het |
Psma7 |
A |
T |
2: 179,679,215 (GRCm39) |
D184E |
probably benign |
Het |
Rai14 |
T |
A |
15: 10,592,282 (GRCm39) |
L204F |
probably damaging |
Het |
Ralgapa2 |
A |
G |
2: 146,199,920 (GRCm39) |
V1208A |
probably benign |
Het |
Rapgef6 |
A |
G |
11: 54,582,458 (GRCm39) |
R67G |
possibly damaging |
Het |
Ryr2 |
C |
T |
13: 11,618,665 (GRCm39) |
|
probably benign |
Het |
Satb1 |
T |
C |
17: 52,047,027 (GRCm39) |
S763G |
probably benign |
Het |
Sdk1 |
A |
T |
5: 142,020,292 (GRCm39) |
H690L |
probably benign |
Het |
Sfrp5 |
A |
C |
19: 42,190,143 (GRCm39) |
V103G |
possibly damaging |
Het |
Six6 |
A |
G |
12: 72,988,451 (GRCm39) |
E208G |
probably benign |
Het |
Sspo |
A |
T |
6: 48,437,334 (GRCm39) |
H1364L |
probably benign |
Het |
Stard9 |
A |
T |
2: 120,529,973 (GRCm39) |
T2077S |
probably benign |
Het |
Tacr3 |
T |
C |
3: 134,535,254 (GRCm39) |
L74P |
probably damaging |
Het |
Tep1 |
T |
C |
14: 51,074,245 (GRCm39) |
E1880G |
probably benign |
Het |
Tgfb3 |
A |
T |
12: 86,116,517 (GRCm39) |
|
probably benign |
Het |
Thap7 |
G |
A |
16: 17,346,576 (GRCm39) |
P136S |
probably damaging |
Het |
Thoc2l |
T |
A |
5: 104,667,789 (GRCm39) |
Y770* |
probably null |
Het |
Tmc2 |
T |
C |
2: 130,098,036 (GRCm39) |
V717A |
possibly damaging |
Het |
Usp43 |
T |
A |
11: 67,778,593 (GRCm39) |
S446C |
probably damaging |
Het |
Vwa3a |
C |
T |
7: 120,379,371 (GRCm39) |
S492L |
probably damaging |
Het |
Wdhd1 |
T |
A |
14: 47,493,672 (GRCm39) |
N16I |
probably damaging |
Het |
Wdr95 |
A |
T |
5: 149,516,566 (GRCm39) |
D327V |
probably damaging |
Het |
Zfp128 |
T |
G |
7: 12,624,563 (GRCm39) |
Y310* |
probably null |
Het |
|
Other mutations in Aup1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00327:Aup1
|
APN |
6 |
83,033,390 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02505:Aup1
|
APN |
6 |
83,032,258 (GRCm39) |
missense |
probably benign |
0.06 |
R0637:Aup1
|
UTSW |
6 |
83,033,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R1544:Aup1
|
UTSW |
6 |
83,032,187 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4196:Aup1
|
UTSW |
6 |
83,032,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R4512:Aup1
|
UTSW |
6 |
83,033,368 (GRCm39) |
nonsense |
probably null |
|
R5119:Aup1
|
UTSW |
6 |
83,032,115 (GRCm39) |
missense |
probably damaging |
0.96 |
R5387:Aup1
|
UTSW |
6 |
83,032,005 (GRCm39) |
missense |
probably damaging |
0.98 |
R6329:Aup1
|
UTSW |
6 |
83,031,588 (GRCm39) |
unclassified |
probably benign |
|
R6837:Aup1
|
UTSW |
6 |
83,034,279 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7122:Aup1
|
UTSW |
6 |
83,032,123 (GRCm39) |
missense |
probably benign |
0.04 |
R7474:Aup1
|
UTSW |
6 |
83,031,948 (GRCm39) |
missense |
probably benign |
0.38 |
R7630:Aup1
|
UTSW |
6 |
83,031,904 (GRCm39) |
missense |
unknown |
|
R7701:Aup1
|
UTSW |
6 |
83,032,908 (GRCm39) |
missense |
probably benign |
0.21 |
R7747:Aup1
|
UTSW |
6 |
83,031,776 (GRCm39) |
missense |
unknown |
|
R8069:Aup1
|
UTSW |
6 |
83,032,910 (GRCm39) |
nonsense |
probably null |
|
R8213:Aup1
|
UTSW |
6 |
83,031,588 (GRCm39) |
unclassified |
probably benign |
|
R8732:Aup1
|
UTSW |
6 |
83,033,602 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Aup1
|
UTSW |
6 |
83,033,614 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Aup1
|
UTSW |
6 |
83,034,505 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCAGCGCGTCCTGTCAGCTT -3'
(R):5'- AATTTCTTGAGTGACTCCACCAACTCC -3'
Sequencing Primer
(F):5'- CGCGCTACTGCTCTACG -3'
(R):5'- aagagaaagagaaaggaaaagacag -3'
|
Posted On |
2014-05-14 |