Mutagenetix > Incidental Mutation

Incidental Mutation 'R2026:Ubn1'

220703

Institutional Source

Beutler Lab

Gene Symbol

Ubn1

Ensembl Gene

ENSMUSG00000039473

Gene Name

ubinuclein 1

Synonyms

1110029L11Rik, 2610108L02Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.715) question?

Stock #

R2026 (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 4882514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 325 (E325G)

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: E325G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000061843
Gene: ENSMUSG00000039473
AA Change: E325G

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

noncoding transcript
Transcript: ENSMUST00000104179

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229060

Predicted Effect

probably damaging
Transcript: ENSMUST00000229126
AA Change: E325G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000229570
AA Change: E82G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230703
AA Change: E325G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.3%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	G	8: 120,880,205 (GRCm39)	K269R	probably benign	Het
Abcc12	A	G	8: 87,284,862 (GRCm39)	V251A	probably benign	Het
Avil	G	A	10: 126,847,742 (GRCm39)	G556S	probably damaging	Het
C3	T	C	17: 57,525,562 (GRCm39)	Y898C	probably damaging	Het
Cacng2	A	G	15: 77,879,720 (GRCm39)	F201L	possibly damaging	Het
Casp7	T	A	19: 56,424,830 (GRCm39)	I183N	probably damaging	Het
Cntn3	A	T	6: 102,397,388 (GRCm39)	W62R	probably damaging	Het
Ctrb1	T	C	8: 112,415,317 (GRCm39)	N119S	probably benign	Het
Cyp3a59	G	A	5: 146,033,098 (GRCm39)	V157M	probably damaging	Het
Dhfr	G	T	13: 92,502,279 (GRCm39)	G117*	probably null	Het
Dido1	A	T	2: 180,330,974 (GRCm39)	L158*	probably null	Het
Dlg2	C	A	7: 91,614,931 (GRCm39)	P290Q	probably damaging	Het
Dnah3	T	A	7: 119,638,629 (GRCm39)	Q1240L	probably damaging	Het
Exd1	A	T	2: 119,350,786 (GRCm39)	S492T	probably benign	Het
Fermt1	T	C	2: 132,760,445 (GRCm39)	I415M	probably benign	Het
Fsip2	A	G	2: 82,819,788 (GRCm39)	T5174A	possibly damaging	Het
Fuca2	T	G	10: 13,388,391 (GRCm39)	V389G	probably damaging	Het
Gm14412	A	T	2: 177,008,898 (GRCm39)	H50Q	possibly damaging	Het
Gm5129	G	A	5: 29,940,732 (GRCm39)		probably benign	Het
Hif3a	T	C	7: 16,778,322 (GRCm39)	R437G	possibly damaging	Het
Hook3	T	C	8: 26,528,126 (GRCm39)	E588G	probably damaging	Het
Hs1bp3	A	G	12: 8,387,738 (GRCm39)	E301G	probably benign	Het
Icam2	A	G	11: 106,273,268 (GRCm39)	F15L	probably benign	Het
Ice2	T	C	9: 69,323,607 (GRCm39)	S701P	probably benign	Het
Igf2bp1	A	G	11: 95,864,996 (GRCm39)	V151A	possibly damaging	Het
Lig4	A	T	8: 10,022,436 (GRCm39)	L448Q	probably damaging	Het
Man2b1	G	C	8: 85,821,964 (GRCm39)	W726C	probably damaging	Het
Mepe	T	C	5: 104,474,957 (GRCm39)	S13P	possibly damaging	Het
Msh6	C	T	17: 88,297,771 (GRCm39)	H1264Y	probably damaging	Het
Ncoa1	A	T	12: 4,317,647 (GRCm39)	S1228R	probably benign	Het
Ndufa10	A	G	1: 92,367,614 (GRCm39)	Y339H	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Nutm2	A	G	13: 50,628,856 (GRCm39)	H640R	probably benign	Het
Or11i1	T	C	3: 106,729,027 (GRCm39)	I283V	probably benign	Het
Or2t1	T	C	14: 14,328,891 (GRCm38)	V260A	probably benign	Het
Or51ac3	T	A	7: 103,214,084 (GRCm39)	Y134F	probably damaging	Het
Or5b123	T	A	19: 13,596,945 (GRCm39)	C140S	probably damaging	Het
Or5w1b	G	T	2: 87,475,753 (GRCm39)	A238E	probably damaging	Het
Or6c211	T	A	10: 129,506,334 (GRCm39)	D18V	probably damaging	Het
Pde1c	C	T	6: 56,157,175 (GRCm39)	V162I	probably damaging	Het
Pdss2	A	T	10: 43,269,871 (GRCm39)	N238I	possibly damaging	Het
Pfas	C	T	11: 68,884,783 (GRCm39)	G473E	probably damaging	Het
Pkn1	A	G	8: 84,398,007 (GRCm39)	V795A	probably damaging	Het
Polq	A	G	16: 36,883,107 (GRCm39)	D1757G	possibly damaging	Het
Popdc3	T	C	10: 45,190,951 (GRCm39)	W21R	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rfc1	G	T	5: 65,445,372 (GRCm39)	T412K	probably damaging	Het
Sap130	T	C	18: 31,831,627 (GRCm39)	S706P	possibly damaging	Het
Scgn	T	C	13: 24,175,047 (GRCm39)		probably benign	Het
Smad7	T	C	18: 75,527,225 (GRCm39)	V357A	probably damaging	Het
Snrnp48	G	T	13: 38,393,862 (GRCm39)	A56S	possibly damaging	Het
Sptbn1	G	T	11: 30,054,559 (GRCm39)	A2178E	probably benign	Het
Syn2	C	T	6: 115,255,212 (GRCm39)	T508I	probably benign	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tmtc4	T	C	14: 123,158,677 (GRCm39)	N682S	probably benign	Het
Trpm7	T	C	2: 126,654,658 (GRCm39)	K1427E	probably benign	Het
Trrap	A	G	5: 144,739,854 (GRCm39)	I1118V	possibly damaging	Het
Tslp	A	T	18: 32,948,725 (GRCm39)	I37L	probably benign	Het
Ttll3	G	A	6: 113,375,731 (GRCm39)	V297M	probably damaging	Het
Ttn	T	C	2: 76,540,713 (GRCm39)	D34091G	possibly damaging	Het
Txndc11	CCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGC	16: 10,952,338 (GRCm39)		probably benign	Het
Ube3a	T	C	7: 58,953,474 (GRCm39)	F803L	probably damaging	Het
Wfikkn2	A	G	11: 94,129,779 (GRCm39)	W121R	possibly damaging	Het
Zfp579	C	A	7: 4,996,520 (GRCm39)	E464*	probably null	Het
Zfp616	A	T	11: 73,974,413 (GRCm39)	L227F	possibly 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
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
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'- GAGGAGCATAAACCTGTAGCTG -3'
(R):5'- CACAAAGGATTTCTTGGGCATC -3'

Sequencing Primer
(F):5'- CCTGTAGCTGTGTCATCAATAGAAGC -3'
(R):5'- GTGCAGAGCTAATGCCAATCTACTG -3'

Posted On

2014-08-25