Mutagenetix > Incidental Mutation

Incidental Mutation 'R1544:Aup1'

172009

Institutional Source

Beutler Lab

Gene Symbol

Aup1

Ensembl Gene

ENSMUSG00000068328

Gene Name

ancient ubiquitous protein 1

Synonyms

MMRRC Submission

039583-MU

Accession Numbers

Essential gene?

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

Stock #

R1544 (G1)

Quality Score

203

Status

Not validated

Chromosome

Chromosomal Location

83031483-83034663 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83032187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 118 (V118A)

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

possibly damaging
Transcript: ENSMUST00000092618
AA Change: V118A

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000090281
Gene: ENSMUSG00000068328
AA Change: V118A

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

unknown
Transcript: ENSMUST00000203915
AA Change: V106A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144058

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203180

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155502

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154829

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203123

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: 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

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: ENSMUST00000204281

Predicted Effect

probably benign
Transcript: ENSMUST00000204343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204752

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204383

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204761

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204510

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 86.9%

Validation Efficiency

99% (114/115)

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	G	7: 43,147,543 (GRCm39)	I182T	possibly damaging	Het
4933406P04Rik	A	G	10: 20,187,105 (GRCm39)		probably benign	Het
A730018C14Rik	A	G	12: 112,381,924 (GRCm39)		noncoding transcript	Het
Aacs	A	T	5: 125,593,394 (GRCm39)	I666F	possibly damaging	Het
Abcb9	C	T	5: 124,221,694 (GRCm39)	V227I	probably benign	Het
Abcd3	T	C	3: 121,578,122 (GRCm39)	Q168R	probably benign	Het
Adamts4	A	G	1: 171,080,311 (GRCm39)	Q288R	probably benign	Het
Atad2	G	A	15: 57,966,760 (GRCm39)	A611V	probably damaging	Het
Bend7	T	A	2: 4,768,122 (GRCm39)		probably benign	Het
Brd4	A	G	17: 32,417,646 (GRCm39)		probably benign	Het
C4b	C	A	17: 34,957,941 (GRCm39)	R580L	probably benign	Het
Cct8	G	T	16: 87,288,342 (GRCm39)		probably benign	Het
Cfhr4	A	T	1: 139,664,608 (GRCm39)	C484S	probably damaging	Het
Cilp	T	C	9: 65,183,127 (GRCm39)	Y344H	probably benign	Het
Clic6	A	T	16: 92,288,961 (GRCm39)		probably benign	Het
Colgalt2	T	C	1: 152,360,703 (GRCm39)	S247P	probably damaging	Het
Csf2rb	G	T	15: 78,224,955 (GRCm39)	A212S	probably benign	Het
Csmd3	A	C	15: 47,475,294 (GRCm39)		probably null	Het
Cyp26c1	A	G	19: 37,679,393 (GRCm39)	D366G	probably benign	Het
Dhx33	A	G	11: 70,890,354 (GRCm39)	S222P	probably damaging	Het
Dhx40	T	A	11: 86,697,379 (GRCm39)	I63F	possibly damaging	Het
Dipk2b	A	C	X: 18,286,701 (GRCm39)	L285V	possibly damaging	Het
Dlgap2	T	A	8: 14,879,861 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,105,957 (GRCm39)	D20E	unknown	Het
Dnase2b	C	A	3: 146,290,312 (GRCm39)	A220S	probably benign	Het
Dock10	T	C	1: 80,570,352 (GRCm39)	E362G	probably benign	Het
Ect2l	C	T	10: 18,044,182 (GRCm39)	V226I	probably benign	Het
Epha10	C	A	4: 124,779,389 (GRCm39)	N78K	probably damaging	Het
Epha3	A	G	16: 63,593,416 (GRCm39)	V224A	probably damaging	Het
Fcgr4	C	A	1: 170,847,523 (GRCm39)	D40E	probably damaging	Het
Fer1l4	T	C	2: 155,887,553 (GRCm39)	M548V	probably benign	Het
Flii	C	T	11: 60,610,518 (GRCm39)		probably null	Het
Flnc	A	T	6: 29,444,079 (GRCm39)	Y631F	probably benign	Het
Gm6871	A	C	7: 41,195,514 (GRCm39)		probably null	Het
Gtf2ird1	A	T	5: 134,387,772 (GRCm39)	S1028T	possibly damaging	Het
Hycc1	A	T	5: 24,170,139 (GRCm39)	D403E	probably benign	Het
Hydin	A	G	8: 111,301,486 (GRCm39)	H3739R	probably benign	Het
Iqcg	A	T	16: 32,865,895 (GRCm39)	N149K	probably benign	Het
Iqgap3	A	G	3: 88,006,200 (GRCm39)	D537G	probably benign	Het
Itih2	T	G	2: 10,110,025 (GRCm39)	D576A	probably benign	Het
Kcmf1	T	C	6: 72,825,212 (GRCm39)	T243A	probably benign	Het
Kif1a	A	G	1: 93,002,670 (GRCm39)		probably benign	Het
Klf10	C	T	15: 38,297,030 (GRCm39)	G337S	probably damaging	Het
Krt31	T	C	11: 99,938,699 (GRCm39)	N298S	possibly damaging	Het
Lmnb1	A	G	18: 56,882,823 (GRCm39)	E556G	probably benign	Het
Mael	A	T	1: 166,029,859 (GRCm39)	S354T	probably benign	Het
Mast3	T	C	8: 71,238,816 (GRCm39)	D496G	probably damaging	Het
Med12l	A	G	3: 59,172,661 (GRCm39)	T1806A	possibly damaging	Het
Mms19	A	G	19: 41,944,260 (GRCm39)		probably null	Het
Moap1	A	T	12: 102,709,504 (GRCm39)	M15K	possibly damaging	Het
Mpv17l	G	T	16: 13,764,683 (GRCm39)	W70L	probably damaging	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myo7b	T	C	18: 32,127,962 (GRCm39)	I577V	probably benign	Het
Myo9b	T	A	8: 71,743,620 (GRCm39)	L227Q	probably damaging	Het
Myom2	T	C	8: 15,154,059 (GRCm39)		probably benign	Het
Naip6	C	A	13: 100,452,983 (GRCm39)	R26L	probably benign	Het
Nbea	T	C	3: 55,966,248 (GRCm39)	T405A	probably damaging	Het
Nrp2	T	A	1: 62,802,063 (GRCm39)	I502N	probably damaging	Het
Nt5el	A	T	13: 105,246,129 (GRCm39)	H230L	probably benign	Het
Nufip2	G	A	11: 77,582,733 (GRCm39)	E216K	possibly damaging	Het
Oaf	A	G	9: 43,133,930 (GRCm39)	Y264H	probably damaging	Het
Or51a42	A	G	7: 103,708,431 (GRCm39)	V126A	probably damaging	Het
Or5m10	T	C	2: 85,717,615 (GRCm39)	L157P	probably damaging	Het
Or6c217	A	T	10: 129,738,293 (GRCm39)	C95*	probably null	Het
Pax1	T	C	2: 147,210,321 (GRCm39)	V352A	probably damaging	Het
Pkd1l2	TGGG	TGG	8: 117,764,974 (GRCm39)		probably null	Het
Plxna3	G	A	X: 73,383,772 (GRCm39)		probably null	Het
Pnpla3	T	C	15: 84,065,247 (GRCm39)	V347A	probably benign	Het
Ppl	T	A	16: 4,920,461 (GRCm39)	K350*	probably null	Het
Pramel28	T	C	4: 143,692,632 (GRCm39)	D123G	probably benign	Het
Prb1a	T	A	6: 132,186,424 (GRCm39)		probably null	Het
Prb1a	C	A	6: 132,186,423 (GRCm39)		probably null	Het
Ptpn11	G	A	5: 121,275,574 (GRCm39)	H540Y	probably benign	Het
Ptprz1	C	A	6: 23,000,747 (GRCm39)	H946N	possibly damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rad51b	A	G	12: 79,349,317 (GRCm39)	E51G	possibly damaging	Het
Rin2	T	C	2: 145,700,366 (GRCm39)	V181A	probably damaging	Het
Rnf157	T	A	11: 116,245,188 (GRCm39)		probably null	Het
Rnf207	A	G	4: 152,398,328 (GRCm39)		probably benign	Het
Ror1	A	T	4: 100,299,183 (GRCm39)	K852M	probably damaging	Het
Sbp	T	A	17: 24,164,043 (GRCm39)	I102K	probably benign	Het
Scaf8	T	C	17: 3,195,429 (GRCm39)	I33T	probably damaging	Het
Scn5a	C	T	9: 119,315,699 (GRCm39)	V1670I	probably damaging	Het
Serhl	C	T	15: 82,989,877 (GRCm39)	T42M	probably damaging	Het
Sin3a	A	G	9: 57,011,281 (GRCm39)		probably benign	Het
Slc12a2	A	G	18: 58,012,374 (GRCm39)	S166G	probably benign	Het
Slc15a4	G	A	5: 127,680,832 (GRCm39)	H396Y	probably benign	Het
Slc2a7	A	T	4: 150,239,143 (GRCm39)	N123Y	probably damaging	Het
Smpd3	G	A	8: 106,992,199 (GRCm39)	T118M	possibly damaging	Het
Spns2	A	T	11: 72,347,193 (GRCm39)	I427N	probably benign	Het
Ssmem1	T	A	6: 30,519,650 (GRCm39)	S112T	probably damaging	Het
Stard10	A	T	7: 100,993,233 (GRCm39)	D190V	probably damaging	Het
Stil	A	T	4: 114,881,049 (GRCm39)	K531M	probably damaging	Het
Strc	T	C	2: 121,203,219 (GRCm39)		probably null	Het
Svil	T	A	18: 5,046,817 (GRCm39)	I21N	possibly damaging	Het
Syt11	T	C	3: 88,656,110 (GRCm39)	M14V	probably benign	Het
Tasor2	A	T	13: 3,640,413 (GRCm39)	H241Q	possibly damaging	Het
Tg	A	T	15: 66,577,081 (GRCm39)	Q1468L	probably benign	Het
Tjp1	A	G	7: 64,952,669 (GRCm39)	V1555A	probably benign	Het
Tmprss11d	A	C	5: 86,486,658 (GRCm39)	S77R	probably damaging	Het
Tsnaxip1	A	G	8: 106,554,383 (GRCm39)		probably benign	Het
Tyr	C	A	7: 87,141,914 (GRCm39)	L138F	probably damaging	Het
Ubash3b	A	G	9: 40,927,901 (GRCm39)	V469A	probably damaging	Het
Ugt8a	T	C	3: 125,709,098 (GRCm39)	Y4C	probably benign	Het
Vmn1r201	A	T	13: 22,658,968 (GRCm39)	T61S	probably benign	Het
Vmn1r204	A	G	13: 22,740,465 (GRCm39)	H32R	probably benign	Het
Vmn1r228	T	A	17: 20,997,285 (GRCm39)	I78L	probably benign	Het
Wdr90	T	C	17: 26,068,284 (GRCm39)	D1348G	possibly damaging	Het
Zfp563	T	A	17: 33,324,187 (GRCm39)	C261S	probably benign	Het
Zfp809	T	A	9: 22,146,395 (GRCm39)	L28Q	probably damaging	Het
Znrf3	T	A	11: 5,239,066 (GRCm39)	Q99L	probably damaging	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
R1686:Aup1	UTSW	6	83,032,226 (GRCm39)	missense	probably damaging	0.97
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'- GATGCCCAAAGACTCCGCCTTC -3'
(R):5'- TCGGTGTTCCCCAAGAGAATCCC -3'

Sequencing Primer
(F):5'- AGCGGCTCTTTGACTCG -3'
(R):5'- TTCCCCAAGAGAATCCCAATGG -3'

Posted On

2014-04-13