Mutagenetix > Incidental Mutation

Incidental Mutation 'R5220:Ubn1'

402288

Institutional Source

Beutler Lab

Gene Symbol

Ubn1

Ensembl Gene

ENSMUSG00000039473

Gene Name

ubinuclein 1

Synonyms

1110029L11Rik, 2610108L02Rik

MMRRC Submission

042793-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.563) question?

Stock #

R5220 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5050057-5086289 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5077954 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 955 (A955S)

Ref Sequence

ENSEMBL: ENSMUSP00000155223 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052449] [ENSMUST00000229126] [ENSMUST00000230703]

AlphaFold

Q4G0F8

Predicted Effect

probably benign
Transcript: ENSMUST00000052449
AA Change: A955S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000061843
Gene: ENSMUSG00000039473
AA Change: A955S

Domain	Start	End	E-Value	Type
Pfam:HUN	117	168	1.4e-22	PFAM
low complexity region	181	224	N/A	INTRINSIC
low complexity region	232	238	N/A	INTRINSIC
low complexity region	250	267	N/A	INTRINSIC
low complexity region	331	344	N/A	INTRINSIC
Pfam:UBN_AB	353	573	2.4e-80	PFAM
low complexity region	792	804	N/A	INTRINSIC
low complexity region	856	882	N/A	INTRINSIC
low complexity region	905	934	N/A	INTRINSIC
low complexity region	970	984	N/A	INTRINSIC
low complexity region	996	1006	N/A	INTRINSIC
low complexity region	1016	1034	N/A	INTRINSIC
low complexity region	1084	1098	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000229126
AA Change: A955S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229355

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229386

Predicted Effect

probably benign
Transcript: ENSMUST00000230703
AA Change: A955S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cellular senescence is a hallmark of tumor suppression and tissue aging. Senescent cells contain domains of heterochromatin, called senescence-associated heterochromatin foci (SAHF), that repress proliferation-promoting genes. The protein encoded by this gene binds to proliferation-promoting genes and is required for SAHF formation, enhancing methylation of histone H3. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 79,088,297	E250G	probably damaging	Het
Adgra1	A	G	7: 139,875,596	N380S	probably benign	Het
Ap3d1	G	A	10: 80,727,167	P160L	probably damaging	Het
Atg9a	C	T	1: 75,185,728	V505M	probably damaging	Het
Chsy3	A	T	18: 59,410,030	I747F	probably damaging	Het
Clec2g	A	G	6: 128,981,306	S100G	probably benign	Het
Cmya5	G	T	13: 93,092,296	P2095T	probably damaging	Het
Dcaf10	T	C	4: 45,373,909	W445R	possibly damaging	Het
Espl1	T	A	15: 102,298,577	L159M	probably benign	Het
Fam126a	A	C	5: 23,965,222	S376R	possibly damaging	Het
Fbxw8	T	C	5: 118,095,711	D285G	possibly damaging	Het
Fras1	C	T	5: 96,768,363	R3419W	probably damaging	Het
Galc	T	A	12: 98,231,413		probably null	Het
Ghdc	T	C	11: 100,769,717	E110G	probably damaging	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
H2-T24	T	C	17: 36,014,670	T309A	probably benign	Het
Helb	A	C	10: 120,101,486	F618V	probably damaging	Het
Ifi211	A	G	1: 173,907,696	F56L	probably damaging	Het
Kntc1	T	C	5: 123,812,097	F1988L	probably damaging	Het
Mapk13	G	A	17: 28,778,491	S361N	probably benign	Het
Mapk3	A	G	7: 126,764,236	I146V	probably benign	Het
Megf6	G	A	4: 154,253,838		probably null	Het
Mug1	G	T	6: 121,861,133	V441F	probably benign	Het
Mymk	A	G	2: 27,062,214	S173P	probably benign	Het
Nox4	A	G	7: 87,374,408	T501A	possibly damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr155	C	A	4: 43,854,624	S105Y	possibly damaging	Het
Olfr666	T	C	7: 104,892,897	T244A	possibly damaging	Het
Prkcb	C	A	7: 122,289,455	H37Q	probably damaging	Het
Rabggtb	A	G	3: 153,909,387	F189L	probably damaging	Het
Setd1b	T	C	5: 123,143,408	I75T	unknown	Het
Slc10a5	T	A	3: 10,335,088	R171*	probably null	Het
Slc12a4	A	G	8: 105,953,852	F211L	probably damaging	Het
Slc1a5	T	A	7: 16,793,834	W352R	probably damaging	Het
Slc22a27	C	G	19: 7,865,938	A359P	probably damaging	Het
St8sia4	A	G	1: 95,627,735	M190T	probably damaging	Het
Tmeff2	A	G	1: 50,979,317	M153V	probably benign	Het
Trappc12	T	C	12: 28,746,697	T279A	probably damaging	Het
Usp24	T	A	4: 106,382,303	H1147Q	possibly damaging	Het
Vrk1	T	A	12: 106,073,606		probably null	Het
Zdhhc25	T	A	15: 88,601,162	Y233*	probably null	Het
Zfp109	A	G	7: 24,228,754	V418A	probably benign	Het

Other mutations in Ubn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00488:Ubn1	APN	16	5081914	missense	probably benign	0.00
IGL01726:Ubn1	APN	16	5073470	critical splice donor site	probably null
IGL01744:Ubn1	APN	16	5072059	missense	probably damaging	1.00
IGL01777:Ubn1	APN	16	5072149	missense	possibly damaging	0.46
IGL02110:Ubn1	APN	16	5081890	splice site	probably benign
IGL02667:Ubn1	APN	16	5062599	missense	probably damaging	1.00
IGL03345:Ubn1	APN	16	5081964	missense	probably damaging	0.98
R0201:Ubn1	UTSW	16	5064614	missense	probably damaging	1.00
R0437:Ubn1	UTSW	16	5072184	critical splice donor site	probably benign
R0514:Ubn1	UTSW	16	5073071	missense	probably damaging	1.00
R0550:Ubn1	UTSW	16	5062620	splice site	probably null
R0919:Ubn1	UTSW	16	5064391	missense	probably damaging	1.00
R1183:Ubn1	UTSW	16	5064542	missense	probably damaging	1.00
R1339:Ubn1	UTSW	16	5055335	missense	probably damaging	0.99
R1440:Ubn1	UTSW	16	5077294	missense	probably damaging	1.00
R1836:Ubn1	UTSW	16	5077391	missense	probably benign
R2024:Ubn1	UTSW	16	5064623	missense	probably damaging	1.00
R2026:Ubn1	UTSW	16	5064650	missense	probably damaging	1.00
R2105:Ubn1	UTSW	16	5077224	nonsense	probably null
R2896:Ubn1	UTSW	16	5055219	missense	possibly damaging	0.60
R3418:Ubn1	UTSW	16	5074379	splice site	probably benign
R3721:Ubn1	UTSW	16	5073378	missense	possibly damaging	0.59
R4033:Ubn1	UTSW	16	5064611	missense	probably damaging	1.00
R4398:Ubn1	UTSW	16	5064425	missense	probably damaging	0.99
R4547:Ubn1	UTSW	16	5072092	missense	probably damaging	1.00
R4646:Ubn1	UTSW	16	5077987	missense	probably damaging	0.99
R4870:Ubn1	UTSW	16	5077313	missense	probably damaging	1.00
R5018:Ubn1	UTSW	16	5063725	missense	probably damaging	1.00
R5394:Ubn1	UTSW	16	5074369	missense	possibly damaging	0.51
R6217:Ubn1	UTSW	16	5077232	missense	probably damaging	1.00
R6372:Ubn1	UTSW	16	5081638	missense	possibly damaging	0.84
R6418:Ubn1	UTSW	16	5081927	missense	probably benign
R6823:Ubn1	UTSW	16	5064547	missense	probably damaging	1.00
R7028:Ubn1	UTSW	16	5055324	missense	probably damaging	1.00
R7203:Ubn1	UTSW	16	5077216	missense	possibly damaging	0.57
R7498:Ubn1	UTSW	16	5077105	missense	probably damaging	0.99
R7596:Ubn1	UTSW	16	5081558	missense	probably benign	0.25
R8383:Ubn1	UTSW	16	5077358	missense	possibly damaging	0.95
R8514:Ubn1	UTSW	16	5073399	missense	probably damaging	1.00
R8559:Ubn1	UTSW	16	5064770	missense	possibly damaging	0.64
R8699:Ubn1	UTSW	16	5063703	missense	possibly damaging	0.79
R9350:Ubn1	UTSW	16	5081558	missense	probably benign	0.25
R9364:Ubn1	UTSW	16	5070628	missense	unknown
R9554:Ubn1	UTSW	16	5070628	missense	unknown
RF018:Ubn1	UTSW	16	5064392	missense	probably damaging	1.00
X0067:Ubn1	UTSW	16	5055338	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AGTGCCCATAAGACGACAGC -3'
(R):5'- ATACTCACTGGCAAGGAGGTAG -3'

Sequencing Primer
(F):5'- CTGTGGGGCCGTCTTATAAGAATAAC -3'
(R):5'- GGTAGACGATGTCACACTACTAACTG -3'

Posted On

2016-07-22