Mutagenetix > Incidental Mutation

Incidental Mutation 'R8699:Ubn1'

668956

Institutional Source

Beutler Lab

Gene Symbol

Ubn1

Ensembl Gene

ENSMUSG00000039473

Gene Name

ubinuclein 1

Synonyms

1110029L11Rik, 2610108L02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.512) question?

Stock #

R8699 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5050057-5086289 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5063703 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 200 (I200L)

Ref Sequence

ENSEMBL: ENSMUSP00000061843 (fasta)

Gene Model

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

AlphaFold

Q4G0F8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052449
AA Change: I200L

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000061843
Gene: ENSMUSG00000039473
AA Change: I200L

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: I200L

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000229570

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230703
AA Change: I200L

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	T	C	16: 90,931,057	K82E	probably benign	Het
4933430I17Rik	T	C	4: 62,532,278	W30R	probably damaging	Het
Abca3	A	G	17: 24,408,225	D1555G	probably benign	Het
Anapc1	T	C	2: 128,641,453	T1241A	probably damaging	Het
Ano5	G	A	7: 51,593,771	V881I	probably benign	Het
Appl1	G	A	14: 26,940,255	S490L	probably benign	Het
Asxl3	A	G	18: 22,434,607	T81A	probably benign	Het
Bclaf1	T	C	10: 20,333,438	S754P	possibly damaging	Het
Bicra	G	T	7: 15,989,188	Q135K	probably benign	Het
Cad	T	C	5: 31,076,261	V1951A	possibly damaging	Het
Cadm3	T	A	1: 173,341,116	Y295F	probably damaging	Het
Ccnt1	A	G	15: 98,565,114	I59T	probably damaging	Het
Ccr6	C	T	17: 8,256,566	T201M	probably benign	Het
Cd5	A	G	19: 10,725,192	F209S	possibly damaging	Het
Cep126	A	C	9: 8,087,361	D1017E	probably damaging	Het
Cntnap4	A	T	8: 112,757,596	D427V	probably damaging	Het
Col4a4	T	A	1: 82,455,734	N1496I	unknown	Het
Crybg3	A	G	16: 59,554,928	Y274H	probably damaging	Het
Cubn	C	A	2: 13,383,959	S1479I	probably damaging	Het
Diras2	A	T	13: 52,508,107	C55S	probably damaging	Het
Dleu7	G	A	14: 62,292,830	R41C	probably benign	Het
Exo5	A	G	4: 120,921,996	I224T	probably damaging	Het
Fcho1	T	C	8: 71,709,633	I774V	possibly damaging	Het
Gclm	T	G	3: 122,266,323	S251A	possibly damaging	Het
Gm11639	A	G	11: 104,781,246	T1464A	probably benign	Het
Gm13889	T	C	2: 93,956,982	Q49R	unknown	Het
Gm35315	T	A	5: 110,080,526	H18L	probably benign	Het
Gm9949	G	A	18: 62,183,972	G65R	unknown	Het
Gpr153	C	T	4: 152,279,101		probably benign	Het
Gria4	C	A	9: 4,424,347	K839N	probably damaging	Het
Gria4	T	G	9: 4,424,351	Y838S	probably damaging	Het
Hrh3	A	G	2: 180,101,356	W160R	probably damaging	Het
Htr4	G	A	18: 62,437,692	A273T	probably damaging	Het
Lig3	G	T	11: 82,794,550	C599F	probably damaging	Het
Lrp1b	A	T	2: 41,282,195	V1594E		Het
Map3k10	A	T	7: 27,668,355	V286D	probably damaging	Het
Map4k4	T	A	1: 39,976,750	V117E	unknown	Het
Mdga1	C	T	17: 29,842,374	V548M	possibly damaging	Het
Mms22l	A	T	4: 24,507,363	L248F	possibly damaging	Het
Ncaph	T	C	2: 127,121,176	D379G	possibly damaging	Het
Neb	A	G	2: 52,147,234	V7064A	probably benign	Het
Neb	G	A	2: 52,212,551	T4570M	probably benign	Het
Npy5r	G	T	8: 66,681,622	T173K	probably damaging	Het
Olfr1002	A	T	2: 85,647,986	C112S	possibly damaging	Het
Olfr1037	A	T	2: 86,085,174	I201N	probably damaging	Het
Olfr1442	A	G	19: 12,674,882	M226V	probably benign	Het
Olfr1447	A	T	19: 12,901,464	F105L	possibly damaging	Het
Olfr622	A	T	7: 103,639,615	I175N	probably damaging	Het
Oxsm	A	G	14: 16,242,631	I46T	possibly damaging	Het
Pcdha1	A	T	18: 36,931,023	I247F	probably benign	Het
Pcdhgb6	A	T	18: 37,742,922	I228L	probably benign	Het
Peg10	T	TCCA	6: 4,756,451		probably benign	Het
Ppp1r9a	A	G	6: 5,115,474	S866G	probably benign	Het
Ppp6r3	T	A	19: 3,496,587	S304C	probably damaging	Het
Pramef6	A	T	4: 143,897,192	N137K	probably benign	Het
Ptprd	A	T	4: 76,041,392	F279I	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rest	G	A	5: 77,281,542	G603R	probably benign	Het
Rgs17	A	T	10: 5,918,194	L9M	probably benign	Het
Rtp1	A	G	16: 23,431,383	Y166C	probably damaging	Het
Sec24b	C	A	3: 130,005,004	R572I	probably damaging	Het
Setd1a	G	T	7: 127,786,602	R827L	possibly damaging	Het
Sh3tc1	T	C	5: 35,701,891	Y1091C	probably damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Stat4	T	A	1: 52,071,937	M181K	probably benign	Het
Stk16	A	G	1: 75,212,038	E67G	probably benign	Het
Supv3l1	A	G	10: 62,432,455	V537A	possibly damaging	Het
Tmc8	A	G	11: 117,783,535	E101G	possibly damaging	Het
Tmem106a	A	T	11: 101,582,294		probably benign	Het
Tpr	T	A	1: 150,418,021	I922N	probably damaging	Het
Uaca	G	T	9: 60,871,065	L911F	probably damaging	Het
Ush2a	A	G	1: 188,911,377	D4312G	probably damaging	Het
Virma	A	T	4: 11,528,678	Y1255F	probably benign	Het
Vmn1r170	C	T	7: 23,606,655	Q161*	probably null	Het
Vmn1r175	G	T	7: 23,808,809	A131D	probably benign	Het
Vmn1r52	T	A	6: 90,178,760	N15K	probably benign	Het
Wdr46	T	A	17: 33,948,852	I513N	probably damaging	Het
Wdr60	T	C	12: 116,207,701	T972A	probably benign	Het
Zfp788	A	G	7: 41,648,416	N159D	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
R5220:Ubn1	UTSW	16	5077954	missense	probably benign	0.02
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
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'- GGACTGCTTTGAGAGACAGC -3'
(R):5'- GAACAGCCCTGTCAGAAGAG -3'

Sequencing Primer
(F):5'- AGAGACAGCTTTTTGTTCATGAAGG -3'
(R):5'- CTATAGCCTCCTTTGAAGCTGGAGAG -3'

Posted On

2021-04-30