Mutagenetix > Incidental Mutation

Incidental Mutation 'R1339:Ubn1'

156972

Institutional Source

Beutler Lab

Gene Symbol

Ubn1

Ensembl Gene

ENSMUSG00000039473

Gene Name

ubinuclein 1

Synonyms

1110029L11Rik, 2610108L02Rik

MMRRC Submission

039404-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.662) question?

Stock #

R1339 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4867921-4904153 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4873199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 74 (K74E)

Ref Sequence

ENSEMBL: ENSMUSP00000155223 (fasta)

Gene Model

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

AlphaFold

Q4G0F8

Predicted Effect

probably damaging
Transcript: ENSMUST00000052449
AA Change: K74E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061843
Gene: ENSMUSG00000039473
AA Change: K74E

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 damaging
Transcript: ENSMUST00000229126
AA Change: K74E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230703
AA Change: K74E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.9%

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	GCC	GC	13: 59,839,412 (GRCm39)		probably null	Het
Adamts20	A	T	15: 94,220,777 (GRCm39)	N1385K	probably benign	Het
Cplane2	A	G	4: 140,945,859 (GRCm39)	E134G	probably damaging	Het
Cyp4a32	A	G	4: 115,468,760 (GRCm39)	Y382C	probably damaging	Het
Dtnbp1	G	A	13: 45,076,696 (GRCm39)	S237L	probably damaging	Het
Foxi1	T	C	11: 34,155,866 (GRCm39)	T255A	probably benign	Het
Ifi208	A	C	1: 173,510,804 (GRCm39)	T320P	probably damaging	Het
Inhbc	C	A	10: 127,193,510 (GRCm39)	V169L	probably benign	Het
Irf7	G	A	7: 140,843,617 (GRCm39)	R320C	probably damaging	Het
Marchf6	T	C	15: 31,486,548 (GRCm39)	T336A	probably benign	Het
Masp1	C	A	16: 23,271,217 (GRCm39)	C677F	probably damaging	Het
Mei1	A	G	15: 81,966,196 (GRCm39)	R323G	possibly damaging	Het
Or2a7	G	C	6: 43,151,544 (GRCm39)	G208A	probably benign	Het
Or6k8-ps1	G	T	1: 173,979,777 (GRCm39)	G232C	probably damaging	Het
Pira13	A	G	7: 3,825,155 (GRCm39)	Y496H	probably damaging	Het
Rel	C	T	11: 23,695,763 (GRCm39)	C208Y	probably damaging	Het
Shc2	T	G	10: 79,462,250 (GRCm39)	T298P	probably benign	Het
Syne1	G	A	10: 5,317,571 (GRCm39)	L508F	probably damaging	Het

Other mutations in Ubn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00488:Ubn1	APN	16	4,899,778 (GRCm39)	missense	probably benign	0.00
IGL01726:Ubn1	APN	16	4,891,334 (GRCm39)	critical splice donor site	probably null
IGL01744:Ubn1	APN	16	4,889,923 (GRCm39)	missense	probably damaging	1.00
IGL01777:Ubn1	APN	16	4,890,013 (GRCm39)	missense	possibly damaging	0.46
IGL02110:Ubn1	APN	16	4,899,754 (GRCm39)	splice site	probably benign
IGL02667:Ubn1	APN	16	4,880,463 (GRCm39)	missense	probably damaging	1.00
IGL03345:Ubn1	APN	16	4,899,828 (GRCm39)	missense	probably damaging	0.98
R0201:Ubn1	UTSW	16	4,882,478 (GRCm39)	missense	probably damaging	1.00
R0437:Ubn1	UTSW	16	4,890,048 (GRCm39)	critical splice donor site	probably benign
R0514:Ubn1	UTSW	16	4,890,935 (GRCm39)	missense	probably damaging	1.00
R0550:Ubn1	UTSW	16	4,880,484 (GRCm39)	splice site	probably null
R0919:Ubn1	UTSW	16	4,882,255 (GRCm39)	missense	probably damaging	1.00
R1183:Ubn1	UTSW	16	4,882,406 (GRCm39)	missense	probably damaging	1.00
R1440:Ubn1	UTSW	16	4,895,158 (GRCm39)	missense	probably damaging	1.00
R1836:Ubn1	UTSW	16	4,895,255 (GRCm39)	missense	probably benign
R2024:Ubn1	UTSW	16	4,882,487 (GRCm39)	missense	probably damaging	1.00
R2026:Ubn1	UTSW	16	4,882,514 (GRCm39)	missense	probably damaging	1.00
R2105:Ubn1	UTSW	16	4,895,088 (GRCm39)	nonsense	probably null
R2896:Ubn1	UTSW	16	4,873,083 (GRCm39)	missense	possibly damaging	0.60
R3418:Ubn1	UTSW	16	4,892,243 (GRCm39)	splice site	probably benign
R3721:Ubn1	UTSW	16	4,891,242 (GRCm39)	missense	possibly damaging	0.59
R4033:Ubn1	UTSW	16	4,882,475 (GRCm39)	missense	probably damaging	1.00
R4398:Ubn1	UTSW	16	4,882,289 (GRCm39)	missense	probably damaging	0.99
R4547:Ubn1	UTSW	16	4,889,956 (GRCm39)	missense	probably damaging	1.00
R4646:Ubn1	UTSW	16	4,895,851 (GRCm39)	missense	probably damaging	0.99
R4870:Ubn1	UTSW	16	4,895,177 (GRCm39)	missense	probably damaging	1.00
R5018:Ubn1	UTSW	16	4,881,589 (GRCm39)	missense	probably damaging	1.00
R5220:Ubn1	UTSW	16	4,895,818 (GRCm39)	missense	probably benign	0.02
R5394:Ubn1	UTSW	16	4,892,233 (GRCm39)	missense	possibly damaging	0.51
R6217:Ubn1	UTSW	16	4,895,096 (GRCm39)	missense	probably damaging	1.00
R6372:Ubn1	UTSW	16	4,899,502 (GRCm39)	missense	possibly damaging	0.84
R6418:Ubn1	UTSW	16	4,899,791 (GRCm39)	missense	probably benign
R6823:Ubn1	UTSW	16	4,882,411 (GRCm39)	missense	probably damaging	1.00
R7028:Ubn1	UTSW	16	4,873,188 (GRCm39)	missense	probably damaging	1.00
R7203:Ubn1	UTSW	16	4,895,080 (GRCm39)	missense	possibly damaging	0.57
R7498:Ubn1	UTSW	16	4,894,969 (GRCm39)	missense	probably damaging	0.99
R7596:Ubn1	UTSW	16	4,899,422 (GRCm39)	missense	probably benign	0.25
R8383:Ubn1	UTSW	16	4,895,222 (GRCm39)	missense	possibly damaging	0.95
R8514:Ubn1	UTSW	16	4,891,263 (GRCm39)	missense	probably damaging	1.00
R8559:Ubn1	UTSW	16	4,882,634 (GRCm39)	missense	possibly damaging	0.64
R8699:Ubn1	UTSW	16	4,881,567 (GRCm39)	missense	possibly damaging	0.79
R9350:Ubn1	UTSW	16	4,899,422 (GRCm39)	missense	probably benign	0.25
R9364:Ubn1	UTSW	16	4,888,492 (GRCm39)	missense	unknown
R9554:Ubn1	UTSW	16	4,888,492 (GRCm39)	missense	unknown
RF018:Ubn1	UTSW	16	4,882,256 (GRCm39)	missense	probably damaging	1.00
X0067:Ubn1	UTSW	16	4,873,202 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGTTGGTAGCCATGTCGGAGCC -3'
(R):5'- GGATCATTCTCACCCAGTGCTTGC -3'

Sequencing Primer
(F):5'- ACAGGGTCCAGTTCACCTC -3'
(R):5'- TGCTCTGGGTGAGTGAGATAAAC -3'

Posted On

2014-02-11