Mutagenetix > Incidental Mutation

Incidental Mutation 'R0514:Ubn1'

48150

Institutional Source

Beutler Lab

Gene Symbol

Ubn1

Ensembl Gene

ENSMUSG00000039473

Gene Name

ubinuclein 1

Synonyms

1110029L11Rik, 2610108L02Rik

MMRRC Submission

038708-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.715) question?

Stock #

R0514 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4867921-4904153 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4890935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 498 (D498V)

Ref Sequence

ENSEMBL: ENSMUSP00000155223 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052449] [ENSMUST00000229126] [ENSMUST00000229570] [ENSMUST00000230703]

AlphaFold

Q4G0F8

Predicted Effect

probably damaging
Transcript: ENSMUST00000052449
AA Change: D498V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061843
Gene: ENSMUSG00000039473
AA Change: D498V

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: D498V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229355

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229386

Predicted Effect

probably benign
Transcript: ENSMUST00000229570

Predicted Effect

probably damaging
Transcript: ENSMUST00000230703
AA Change: D498V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	T	A	9: 104,197,177 (GRCm39)	Y154F	probably damaging	Het
Acsl6	A	T	11: 54,241,406 (GRCm39)	D579V	probably damaging	Het
Adamts18	C	T	8: 114,465,401 (GRCm39)		probably null	Het
Adamts20	A	T	15: 94,168,257 (GRCm39)	V1882D	probably damaging	Het
Add3	A	T	19: 53,225,274 (GRCm39)	K465*	probably null	Het
Ago1	T	G	4: 126,333,388 (GRCm39)	I524L	probably benign	Het
Akr1c18	A	G	13: 4,187,190 (GRCm39)	M208T	probably benign	Het
Anapc1	C	A	2: 128,474,575 (GRCm39)	L1413F	probably damaging	Het
Arid4b	A	T	13: 14,358,902 (GRCm39)	D646V	probably damaging	Het
Arnt2	T	C	7: 83,954,067 (GRCm39)	E261G	probably benign	Het
Bccip	C	T	7: 133,320,859 (GRCm39)	T211I	possibly damaging	Het
Bsn	T	C	9: 108,002,981 (GRCm39)	S475G	probably benign	Het
Cdh26	G	A	2: 178,108,621 (GRCm39)		probably null	Het
Ceacam2	A	G	7: 25,220,356 (GRCm39)	F414S	probably benign	Het
Cep43	A	G	17: 8,410,266 (GRCm39)	N342S	possibly damaging	Het
Cfb	T	C	17: 35,079,874 (GRCm39)	R172G	probably damaging	Het
Cntnap5b	A	C	1: 99,700,511 (GRCm39)	T8P	probably benign	Het
Cpne9	A	T	6: 113,266,974 (GRCm39)	I136L	probably damaging	Het
Crtc1	A	T	8: 70,855,079 (GRCm39)		probably null	Het
Dcdc2a	A	T	13: 25,303,369 (GRCm39)	H300L	probably benign	Het
Dhdh	C	T	7: 45,138,130 (GRCm39)	V20M	probably benign	Het
Dhx34	T	C	7: 15,944,462 (GRCm39)	Q584R	probably benign	Het
Dis3l2	A	G	1: 86,974,814 (GRCm39)	Y701C	probably damaging	Het
Dmrt2	T	C	19: 25,653,019 (GRCm39)		probably null	Het
Dnah5	A	G	15: 28,366,467 (GRCm39)	T2727A	probably damaging	Het
Dop1a	A	G	9: 86,402,787 (GRCm39)	E1329G	probably damaging	Het
Evpl	A	G	11: 116,114,117 (GRCm39)	V1191A	probably damaging	Het
Fhl4	T	C	10: 84,934,250 (GRCm39)	D177G	probably damaging	Het
Gask1a	A	G	9: 121,807,418 (GRCm39)	T521A	possibly damaging	Het
Heg1	A	G	16: 33,547,126 (GRCm39)	T662A	possibly damaging	Het
Ifih1	A	G	2: 62,453,735 (GRCm39)		probably null	Het
Il13	T	C	11: 53,523,345 (GRCm39)	R87G	possibly damaging	Het
Kcnc3	T	A	7: 44,245,352 (GRCm39)	Y547*	probably null	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lama1	G	A	17: 68,071,693 (GRCm39)	G860D	probably benign	Het
Lmo7	T	C	14: 102,124,609 (GRCm39)	L356P	probably damaging	Het
Lmo7	A	T	14: 102,133,995 (GRCm39)	K447I	probably damaging	Het
Lrp2bp	A	G	8: 46,464,995 (GRCm39)	H38R	probably damaging	Het
Magi3	G	A	3: 103,922,338 (GRCm39)	P1460S	probably damaging	Het
Megf8	T	A	7: 25,063,728 (GRCm39)	C2695S	possibly damaging	Het
Mrgprb2	T	G	7: 48,201,718 (GRCm39)	S336R	probably benign	Het
Mrgprx2	C	T	7: 48,132,712 (GRCm39)	M1I	probably null	Het
Mug2	T	C	6: 122,058,558 (GRCm39)	L1320P	probably damaging	Het
Noxred1	A	G	12: 87,273,838 (GRCm39)	S68P	probably benign	Het
Or51f5	T	A	7: 102,424,539 (GRCm39)	H269Q	probably benign	Het
Or56b1b	T	A	7: 108,164,879 (GRCm39)	Y41F	probably damaging	Het
Os9	C	T	10: 126,955,508 (GRCm39)	C123Y	probably damaging	Het
Ostf1	T	A	19: 18,573,723 (GRCm39)	T42S	probably benign	Het
Parg	C	A	14: 31,976,517 (GRCm39)	T186K	possibly damaging	Het
Pcnx1	T	A	12: 82,041,884 (GRCm39)	M2172K	probably benign	Het
Pip4k2a	A	G	2: 18,850,747 (GRCm39)	I360T	probably damaging	Het
Pkn2	T	C	3: 142,516,219 (GRCm39)	D568G	possibly damaging	Het
Plch2	A	G	4: 155,083,343 (GRCm39)	S431P	probably damaging	Het
Prl8a6	A	T	13: 27,616,990 (GRCm39)	C233*	probably null	Het
Prox1	G	A	1: 189,893,653 (GRCm39)	T264I	probably damaging	Het
Prr5	A	G	15: 84,586,967 (GRCm39)	N248S	probably benign	Het
Psip1	A	C	4: 83,378,274 (GRCm39)	S407R	probably damaging	Het
Rab32	A	T	10: 10,426,640 (GRCm39)	V102E	probably damaging	Het
Rap1gap2	T	G	11: 74,279,680 (GRCm39)	K687Q	possibly damaging	Het
Rbak	A	T	5: 143,159,169 (GRCm39)	V628E	probably damaging	Het
Rnf148	T	C	6: 23,654,792 (GRCm39)	E68G	possibly damaging	Het
Rnf212	A	T	5: 108,897,308 (GRCm39)	S3T	probably damaging	Het
Rrad	T	G	8: 105,355,259 (GRCm39)	I250L	probably benign	Het
Sall4	T	C	2: 168,597,625 (GRCm39)	H405R	probably damaging	Het
Scn9a	T	C	2: 66,314,022 (GRCm39)	R1888G	probably damaging	Het
Setd5	G	T	6: 113,096,398 (GRCm39)	E535*	probably null	Het
Slc20a1	C	T	2: 129,041,811 (GRCm39)	S58L	probably damaging	Het
Slc31a1	A	G	4: 62,303,841 (GRCm39)		probably benign	Het
Slc38a11	G	T	2: 65,147,209 (GRCm39)	Q423K	probably benign	Het
Snrpd1	A	T	18: 10,626,846 (GRCm39)	T38S	possibly damaging	Het
Taar4	A	G	10: 23,836,780 (GRCm39)	D130G	probably damaging	Het
Tfb2m	C	T	1: 179,358,869 (GRCm39)	R338H	probably benign	Het
Tm2d2	A	G	8: 25,512,742 (GRCm39)	I197V	possibly damaging	Het
Tmem132a	C	T	19: 10,836,355 (GRCm39)	G725D	probably damaging	Het
Tmem67	T	C	4: 12,089,317 (GRCm39)	T38A	probably benign	Het
Tmprss15	A	T	16: 78,765,155 (GRCm39)	S816T	probably benign	Het
Tnfrsf11a	A	G	1: 105,754,717 (GRCm39)	E263G	probably damaging	Het
Tnfrsf17	C	T	16: 11,133,191 (GRCm39)	L90F	probably benign	Het
Tpr	A	G	1: 150,278,024 (GRCm39)	K117E	possibly damaging	Het
Trim43a	C	T	9: 88,466,389 (GRCm39)	Q5*	probably null	Het
Vipr1	T	A	9: 121,487,115 (GRCm39)	C63S	probably damaging	Het
Vmn1r237	T	A	17: 21,534,932 (GRCm39)	H218Q	possibly damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r95	T	C	17: 18,671,844 (GRCm39)	V527A	probably benign	Het
Vmn2r97	A	T	17: 19,134,734 (GRCm39)	T51S	probably benign	Het
Vwa8	G	A	14: 79,184,629 (GRCm39)	V376I	probably benign	Het
Wdfy4	T	A	14: 32,802,732 (GRCm39)	T1838S	probably benign	Het
Zcwpw1	A	T	5: 137,794,945 (GRCm39)	E47V	probably benign	Het
Zeb2	T	C	2: 44,892,659 (GRCm39)	E130G	possibly damaging	Het
Zfp111	A	G	7: 23,898,568 (GRCm39)	Y348H	probably damaging	Het
Zfp53	T	C	17: 21,729,271 (GRCm39)	S435P	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
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
R1339:Ubn1	UTSW	16	4,873,199 (GRCm39)	missense	probably damaging	0.99
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'- TGGCTTGATTCATTGGTGCTTTAGACAA -3'
(R):5'- ACCACTGTGTGCTTTCAGCAACC -3'

Sequencing Primer
(F):5'- GTGCTTTAGACAAATGAAAGAACCTC -3'
(R):5'- TTTCAGCAACCCATGAAAGTAATC -3'

Posted On

2013-06-12