Mutagenetix > Incidental Mutation

Incidental Mutation 'R4196:Aup1'

318558

Institutional Source

Beutler Lab

Gene Symbol

Aup1

Ensembl Gene

ENSMUSG00000068328

Gene Name

ancient ubiquitous protein 1

Synonyms

MMRRC Submission

041027-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.308) question?

Stock #

R4196 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83031483-83034663 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83032211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 126 (V126A)

Ref Sequence

ENSEMBL: ENSMUSP00000090281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000707] [ENSMUST00000077502] [ENSMUST00000089645] [ENSMUST00000092618] [ENSMUST00000101257] [ENSMUST00000113962] [ENSMUST00000113963] [ENSMUST00000134606] [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: V126A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090281
Gene: ENSMUSG00000068328
AA Change: V126A

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

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

noncoding transcript
Transcript: ENSMUST00000154829

Predicted Effect

unknown
Transcript: ENSMUST00000203915
AA Change: V114A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144058

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155502

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203123

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203180

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: 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

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: ENSMUST00000132099

Predicted Effect

silent
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: ENSMUST00000204383

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204281

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204752

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204385

Predicted Effect

probably benign
Transcript: ENSMUST00000204343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204510

Meta Mutation Damage Score

0.3915

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

100% (39/39)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	T	G	1: 127,676,931 (GRCm39)	L152R	probably damaging	Het
Ankle2	A	G	5: 110,392,409 (GRCm39)	K472E	possibly damaging	Het
Baz1a	T	C	12: 54,958,200 (GRCm39)	Y1014C	probably damaging	Het
Bcl9	A	T	3: 97,123,684 (GRCm39)		probably benign	Het
Bltp2	A	G	11: 78,154,382 (GRCm39)		probably benign	Het
Cnot2	A	T	10: 116,337,209 (GRCm39)	N221K	possibly damaging	Het
Col19a1	G	A	1: 24,573,133 (GRCm39)	S213L	unknown	Het
Eif4enif1	T	C	11: 3,193,186 (GRCm39)	V675A	possibly damaging	Het
Elp1	A	T	4: 56,755,353 (GRCm39)	N1295K	probably damaging	Het
Elp3	A	G	14: 65,785,451 (GRCm39)	L450P	probably damaging	Het
Erbb4	C	T	1: 68,383,014 (GRCm39)	D328N	possibly damaging	Het
Fbll1	T	A	11: 35,688,699 (GRCm39)	H188L	possibly damaging	Het
Frem2	A	G	3: 53,446,689 (GRCm39)	F2360L	possibly damaging	Het
Gm2396	A	G	9: 88,799,715 (GRCm39)		noncoding transcript	Het
Gulo	G	T	14: 66,225,702 (GRCm39)	P375T	possibly damaging	Het
Hspd1	T	C	1: 55,126,068 (GRCm39)	M11V	probably benign	Het
Itgav	A	G	2: 83,598,671 (GRCm39)	T243A	probably benign	Het
Lipg	C	T	18: 75,078,902 (GRCm39)	R450H	probably damaging	Het
Lrp3	T	A	7: 34,902,835 (GRCm39)	S504C	probably damaging	Het
Mrps9	T	G	1: 42,940,254 (GRCm39)		probably benign	Het
Nlgn1	A	G	3: 25,488,556 (GRCm39)	V564A	probably damaging	Het
Ntf3	T	C	6: 126,079,138 (GRCm39)	T110A	probably benign	Het
Pkd1l1	T	A	11: 8,859,929 (GRCm39)	I560F	probably damaging	Het
Prepl	T	C	17: 85,388,582 (GRCm39)	T174A	probably benign	Het
Ptprg	A	T	14: 12,122,002 (GRCm38)	T289S	possibly damaging	Het
Rab11fip2	T	C	19: 59,924,213 (GRCm39)	T222A	probably damaging	Het
Rhbdd3	G	T	11: 5,049,460 (GRCm39)		probably benign	Het
Septin4	C	A	11: 87,479,598 (GRCm39)	D239E	probably damaging	Het
Shprh	A	G	10: 11,083,604 (GRCm39)		probably benign	Het
Slc3a1	T	A	17: 85,368,306 (GRCm39)	W525R	probably damaging	Het
Trim75	A	G	8: 65,435,416 (GRCm39)	S345P	probably damaging	Het
Usp5	C	T	6: 124,801,901 (GRCm39)	E72K	possibly damaging	Het
Vmn1r225	T	A	17: 20,723,237 (GRCm39)	M226K	probably benign	Het
Wnk4	T	A	11: 101,160,457 (GRCm39)	V697E	probably damaging	Het
Zbtb9	C	T	17: 27,192,853 (GRCm39)	T86I	probably benign	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
R1686:Aup1	UTSW	6	83,032,226 (GRCm39)	missense	probably damaging	0.97
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'- CTTTGACTCGCACCGGTAAG -3'
(R):5'- CACGTGAGGTGGCGATTAAG -3'

Sequencing Primer
(F):5'- ACGTCTTCCTGGTCAGCTG -3'
(R):5'- AGGTGGCGATTAAGGGGCTG -3'

Posted On

2015-06-10