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

068553-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.715) question?

Stock #

R8699 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4867921-4904153 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4881567 bp (GRCm39)

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
4933430I17Rik	T	C	4: 62,450,515 (GRCm39)	W30R	probably damaging	Het
Abca3	A	G	17: 24,627,199 (GRCm39)	D1555G	probably benign	Het
Anapc1	T	C	2: 128,483,373 (GRCm39)	T1241A	probably damaging	Het
Ano5	G	A	7: 51,243,519 (GRCm39)	V881I	probably benign	Het
Appl1	G	A	14: 26,662,212 (GRCm39)	S490L	probably benign	Het
Asxl3	A	G	18: 22,567,664 (GRCm39)	T81A	probably benign	Het
Bclaf1	T	C	10: 20,209,184 (GRCm39)	S754P	possibly damaging	Het
Bicra	G	T	7: 15,723,113 (GRCm39)	Q135K	probably benign	Het
Cad	T	C	5: 31,233,605 (GRCm39)	V1951A	possibly damaging	Het
Cadm3	T	A	1: 173,168,683 (GRCm39)	Y295F	probably damaging	Het
Ccnt1	A	G	15: 98,462,995 (GRCm39)	I59T	probably damaging	Het
Ccr6	C	T	17: 8,475,398 (GRCm39)	T201M	probably benign	Het
Cd5	A	G	19: 10,702,556 (GRCm39)	F209S	possibly damaging	Het
Cep126	A	C	9: 8,087,362 (GRCm39)	D1017E	probably damaging	Het
Cfap298	T	C	16: 90,727,945 (GRCm39)	K82E	probably benign	Het
Cntnap4	A	T	8: 113,484,228 (GRCm39)	D427V	probably damaging	Het
Col4a4	T	A	1: 82,433,455 (GRCm39)	N1496I	unknown	Het
Crybg3	A	G	16: 59,375,291 (GRCm39)	Y274H	probably damaging	Het
Cubn	C	A	2: 13,388,770 (GRCm39)	S1479I	probably damaging	Het
Diras2	A	T	13: 52,662,143 (GRCm39)	C55S	probably damaging	Het
Dleu7	G	A	14: 62,530,279 (GRCm39)	R41C	probably benign	Het
Dync2i1	T	C	12: 116,171,321 (GRCm39)	T972A	probably benign	Het
Efcab3	A	G	11: 104,672,072 (GRCm39)	T1464A	probably benign	Het
Exo5	A	G	4: 120,779,193 (GRCm39)	I224T	probably damaging	Het
Fcho1	T	C	8: 72,162,277 (GRCm39)	I774V	possibly damaging	Het
Gclm	T	G	3: 122,059,972 (GRCm39)	S251A	possibly damaging	Het
Gm13889	T	C	2: 93,787,327 (GRCm39)	Q49R	unknown	Het
Gm35315	T	A	5: 110,228,392 (GRCm39)	H18L	probably benign	Het
Gm9949	G	A	18: 62,317,043 (GRCm39)	G65R	unknown	Het
Gpr153	C	T	4: 152,363,558 (GRCm39)		probably benign	Het
Gria4	C	A	9: 4,424,347 (GRCm39)	K839N	probably damaging	Het
Gria4	T	G	9: 4,424,351 (GRCm39)	Y838S	probably damaging	Het
Hrh3	A	G	2: 179,743,149 (GRCm39)	W160R	probably damaging	Het
Htr4	G	A	18: 62,570,763 (GRCm39)	A273T	probably damaging	Het
Lig3	G	T	11: 82,685,376 (GRCm39)	C599F	probably damaging	Het
Lrp1b	A	T	2: 41,172,207 (GRCm39)	V1594E		Het
Map3k10	A	T	7: 27,367,780 (GRCm39)	V286D	probably damaging	Het
Map4k4	T	A	1: 40,015,910 (GRCm39)	V117E	unknown	Het
Mdga1	C	T	17: 30,061,348 (GRCm39)	V548M	possibly damaging	Het
Mms22l	A	T	4: 24,507,363 (GRCm39)	L248F	possibly damaging	Het
Ncaph	T	C	2: 126,963,096 (GRCm39)	D379G	possibly damaging	Het
Neb	A	G	2: 52,037,246 (GRCm39)	V7064A	probably benign	Het
Neb	G	A	2: 52,102,563 (GRCm39)	T4570M	probably benign	Het
Npy5r	G	T	8: 67,134,274 (GRCm39)	T173K	probably damaging	Het
Or52a33	A	T	7: 103,288,822 (GRCm39)	I175N	probably damaging	Het
Or5b94	A	G	19: 12,652,246 (GRCm39)	M226V	probably benign	Het
Or5b97	A	T	19: 12,878,828 (GRCm39)	F105L	possibly damaging	Het
Or5g25	A	T	2: 85,478,330 (GRCm39)	C112S	possibly damaging	Het
Or8u10	A	T	2: 85,915,518 (GRCm39)	I201N	probably damaging	Het
Oxsm	A	G	14: 16,242,631 (GRCm38)	I46T	possibly damaging	Het
Pcdha1	A	T	18: 37,064,076 (GRCm39)	I247F	probably benign	Het
Pcdhgb6	A	T	18: 37,875,975 (GRCm39)	I228L	probably benign	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Ppp1r9a	A	G	6: 5,115,474 (GRCm39)	S866G	probably benign	Het
Ppp6r3	T	A	19: 3,546,587 (GRCm39)	S304C	probably damaging	Het
Pramel11	A	T	4: 143,623,762 (GRCm39)	N137K	probably benign	Het
Ptprd	A	T	4: 75,959,629 (GRCm39)	F279I	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rest	G	A	5: 77,429,389 (GRCm39)	G603R	probably benign	Het
Rgs17	A	T	10: 5,868,194 (GRCm39)	L9M	probably benign	Het
Rtp1	A	G	16: 23,250,133 (GRCm39)	Y166C	probably damaging	Het
Sec24b	C	A	3: 129,798,653 (GRCm39)	R572I	probably damaging	Het
Setd1a	G	T	7: 127,385,774 (GRCm39)	R827L	possibly damaging	Het
Sh3tc1	T	C	5: 35,859,235 (GRCm39)	Y1091C	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Stat4	T	A	1: 52,111,096 (GRCm39)	M181K	probably benign	Het
Stk16	A	G	1: 75,188,682 (GRCm39)	E67G	probably benign	Het
Supv3l1	A	G	10: 62,268,234 (GRCm39)	V537A	possibly damaging	Het
Tmc8	A	G	11: 117,674,361 (GRCm39)	E101G	possibly damaging	Het
Tmem106a	A	T	11: 101,473,120 (GRCm39)		probably benign	Het
Tpr	T	A	1: 150,293,772 (GRCm39)	I922N	probably damaging	Het
Uaca	G	T	9: 60,778,347 (GRCm39)	L911F	probably damaging	Het
Ush2a	A	G	1: 188,643,574 (GRCm39)	D4312G	probably damaging	Het
Virma	A	T	4: 11,528,678 (GRCm39)	Y1255F	probably benign	Het
Vmn1r170	C	T	7: 23,306,080 (GRCm39)	Q161*	probably null	Het
Vmn1r175	G	T	7: 23,508,234 (GRCm39)	A131D	probably benign	Het
Vmn1r52	T	A	6: 90,155,742 (GRCm39)	N15K	probably benign	Het
Wdr46	T	A	17: 34,167,826 (GRCm39)	I513N	probably damaging	Het
Zfp788	A	G	7: 41,297,840 (GRCm39)	N159D	probably benign	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
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
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'- GGACTGCTTTGAGAGACAGC -3'
(R):5'- GAACAGCCCTGTCAGAAGAG -3'

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

Posted On

2021-04-30