Mutagenetix > Incidental Mutations

Incidental Mutation 'R0267:Ubn2'

34992

Institutional Source

Beutler Lab

Gene Symbol

Ubn2

Ensembl Gene

ENSMUSG00000038538

Gene Name

ubinuclein 2

Synonyms

D130059P03Rik, 6030408G03Rik, 2900060J04Rik

MMRRC Submission

038493-MU

Accession Numbers

Genbank: NM_177185; MGI: 2444236

Is this an essential gene?

Probably essential (E-score: 0.873) question?

Stock #

R0267 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38433950-38524825 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 38482618 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039127] [ENSMUST00000160583] [ENSMUST00000162593]

Predicted Effect

probably null
Transcript: ENSMUST00000039127

SMART Domains

Protein: ENSMUSP00000036188
Gene: ENSMUSG00000038538

Domain	Start	End	E-Value	Type
low complexity region	34	57	N/A	INTRINSIC
low complexity region	74	109	N/A	INTRINSIC
Pfam:HUN	180	231	4.8e-22	PFAM
low complexity region	256	285	N/A	INTRINSIC
low complexity region	294	309	N/A	INTRINSIC
low complexity region	328	345	N/A	INTRINSIC
low complexity region	389	399	N/A	INTRINSIC
Pfam:UBN_AB	434	650	6.4e-80	PFAM
low complexity region	687	717	N/A	INTRINSIC
low complexity region	822	833	N/A	INTRINSIC
low complexity region	846	881	N/A	INTRINSIC
low complexity region	1002	1042	N/A	INTRINSIC
low complexity region	1156	1168	N/A	INTRINSIC
low complexity region	1180	1199	N/A	INTRINSIC
low complexity region	1247	1263	N/A	INTRINSIC
low complexity region	1280	1297	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159925

Predicted Effect

probably null
Transcript: ENSMUST00000160583

SMART Domains

Protein: ENSMUSP00000124043
Gene: ENSMUSG00000038538

Domain	Start	End	E-Value	Type
low complexity region	34	57	N/A	INTRINSIC
low complexity region	74	109	N/A	INTRINSIC
Pfam:HUN	178	232	3.8e-23	PFAM
low complexity region	256	285	N/A	INTRINSIC
low complexity region	294	309	N/A	INTRINSIC
low complexity region	328	345	N/A	INTRINSIC
low complexity region	389	399	N/A	INTRINSIC
Pfam:UBN_AB	434	650	2.9e-86	PFAM
low complexity region	685	715	N/A	INTRINSIC
low complexity region	820	831	N/A	INTRINSIC
low complexity region	844	879	N/A	INTRINSIC
low complexity region	1000	1040	N/A	INTRINSIC
low complexity region	1154	1166	N/A	INTRINSIC
low complexity region	1178	1197	N/A	INTRINSIC
low complexity region	1245	1261	N/A	INTRINSIC
low complexity region	1278	1295	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161280

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162423

Predicted Effect

probably null
Transcript: ENSMUST00000162593

SMART Domains

Protein: ENSMUSP00000124352
Gene: ENSMUSG00000038538

Domain	Start	End	E-Value	Type
Pfam:HUN	10	64	4.4e-24	PFAM
low complexity region	88	117	N/A	INTRINSIC
low complexity region	126	141	N/A	INTRINSIC
low complexity region	160	177	N/A	INTRINSIC
low complexity region	221	231	N/A	INTRINSIC
Pfam:UBN_AB	266	482	3.1e-87	PFAM
low complexity region	534	564	N/A	INTRINSIC
low complexity region	669	680	N/A	INTRINSIC
low complexity region	693	728	N/A	INTRINSIC
low complexity region	849	889	N/A	INTRINSIC
low complexity region	1003	1015	N/A	INTRINSIC
low complexity region	1027	1039	N/A	INTRINSIC

Meta Mutation Damage Score

0.9489

Coding Region Coverage

1x: 98.6%
3x: 97.7%
10x: 96.2%
20x: 94.0%

Validation Efficiency

97% (64/66)

Allele List at MGI

All alleles(14) : Gene trapped(14)

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,046,105	F1721S	probably damaging	Het
Adgrb1	G	A	15: 74,529,389	R78H	probably damaging	Het
Adgrd1	G	A	5: 129,139,594	A342T	probably benign	Het
Adrb1	A	T	19: 56,723,491	K374*	probably null	Het
Aldh18a1	C	A	19: 40,573,789	V264F	probably benign	Het
Aldh1l2	C	T	10: 83,522,687		probably benign	Het
Alox15	T	A	11: 70,346,153	H393L	probably damaging	Het
Aox2	A	G	1: 58,339,446		probably benign	Het
Appbp2	T	C	11: 85,201,462	Y297C	probably damaging	Het
Atxn2l	T	G	7: 126,493,207	Q950P	probably damaging	Het
Bicd1	A	T	6: 149,517,042	D737V	probably damaging	Het
C9	T	C	15: 6,467,458	I212T	probably benign	Het
Ccdc63	A	T	5: 122,117,044		probably benign	Het
Chst1	C	A	2: 92,613,606	P141Q	probably damaging	Het
Cped1	T	A	6: 22,119,476	F311L	probably damaging	Het
D6Wsu163e	T	A	6: 126,946,491	H113Q	probably benign	Het
Dcn	A	T	10: 97,506,483		probably benign	Het
Dmbx1	C	T	4: 115,918,112	A324T	probably benign	Het
Dock10	G	T	1: 80,512,454	Q1618K	probably damaging	Het
Dpyd	A	G	3: 118,917,272	E443G	probably benign	Het
Espl1	T	C	15: 102,313,017	V953A	possibly damaging	Het
Exosc10	T	C	4: 148,562,756	L174P	probably damaging	Het
Foxg1	A	G	12: 49,385,582	Y366C	probably damaging	Het
Fxyd3	T	C	7: 31,070,734		probably benign	Het
Gbp2	T	C	3: 142,630,106	V189A	probably benign	Het
Gins4	T	C	8: 23,229,410		probably benign	Het
Gm12789	A	G	4: 101,988,122	T3A	probably benign	Het
Gnb1l	T	C	16: 18,548,089		probably benign	Het
Gtpbp3	T	C	8: 71,491,497	L295S	probably damaging	Het
Hrh4	C	A	18: 13,022,398	Y331*	probably null	Het
Hsd11b1	A	T	1: 193,241,397	Y52N	probably damaging	Het
Jam3	A	G	9: 27,106,405	I29T	probably benign	Het
Kctd16	T	A	18: 40,530,877	I353N	probably benign	Het
Lama4	G	T	10: 39,028,639	G246C	probably damaging	Het
Lhx3	T	A	2: 26,203,028	M137L	probably benign	Het
Morc2a	T	C	11: 3,678,567	I340T	probably benign	Het
Myo7a	A	C	7: 98,054,624	I1969S	probably benign	Het
Olfr1471	T	A	19: 13,445,428	C139S	probably damaging	Het
Olfr304	T	C	7: 86,386,267	E131G	possibly damaging	Het
Olfr429	A	G	1: 174,089,166	N42S	probably damaging	Het
Pclo	T	C	5: 14,681,180	L3232P	unknown	Het
Polr1a	T	G	6: 71,974,139	I1407M	probably damaging	Het
Ppip5k2	A	G	1: 97,728,997	V817A	probably damaging	Het
Rbfox3	T	C	11: 118,495,240	T280A	probably benign	Het
Rfx3	T	C	19: 27,793,788	D521G	probably benign	Het
Scn5a	C	T	9: 119,543,135	V223I	probably damaging	Het
Sgsm3	T	G	15: 81,006,602	M119R	probably damaging	Het
Slc6a7	T	A	18: 60,996,711	M608L	probably benign	Het
Slit2	A	G	5: 48,182,331		probably benign	Het
Steap2	T	A	5: 5,673,561	I440F	probably benign	Het
Syn2	T	G	6: 115,254,150		probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tfb2m	G	A	1: 179,533,638	H262Y	probably benign	Het
Trmt1l	A	G	1: 151,457,675		probably benign	Het
Trpm6	C	A	19: 18,823,378	P819T	probably benign	Het
Ttn	G	A	2: 76,743,689	A25620V	probably damaging	Het
Vars	T	C	17: 35,011,596		probably benign	Het
Vip	A	T	10: 5,644,004	D119V	possibly damaging	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Vps33b	T	C	7: 80,286,054	I405T	possibly damaging	Het
Zbtb21	T	A	16: 97,952,100	S356C	probably damaging	Het
Zdhhc6	A	T	19: 55,308,930	S237T	probably benign	Het
Zfp142	G	A	1: 74,576,064	A427V	probably benign	Het
Zfp692	T	A	11: 58,314,314	V463E	possibly damaging	Het
Zmynd8	A	T	2: 165,828,402	I384N	probably damaging	Het

Other mutations in Ubn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Ubn2	APN	6	38482605	missense	possibly damaging	0.91
IGL03116:Ubn2	APN	6	38491899	missense	probably damaging	1.00
IGL03150:Ubn2	APN	6	38463714	missense	probably benign
IGL03382:Ubn2	APN	6	38440447	unclassified	probably benign
A4554:Ubn2	UTSW	6	38484110	missense	probably damaging	1.00
R0008:Ubn2	UTSW	6	38434600	critical splice donor site	probably null
R0034:Ubn2	UTSW	6	38491406	synonymous	silent
R0121:Ubn2	UTSW	6	38452858	splice site	probably benign
R1864:Ubn2	UTSW	6	38440490	missense	possibly damaging	0.93
R1865:Ubn2	UTSW	6	38440490	missense	possibly damaging	0.93
R1892:Ubn2	UTSW	6	38491291	missense	probably damaging	1.00
R2174:Ubn2	UTSW	6	38470141	splice site	probably null
R2184:Ubn2	UTSW	6	38484094	missense	probably damaging	1.00
R2212:Ubn2	UTSW	6	38498739	missense	probably benign	0.03
R2442:Ubn2	UTSW	6	38491005	missense	probably benign	0.00
R3413:Ubn2	UTSW	6	38498739	missense	probably benign	0.03
R4725:Ubn2	UTSW	6	38522305	utr 3 prime	probably benign
R4765:Ubn2	UTSW	6	38479140	missense	probably damaging	1.00
R4771:Ubn2	UTSW	6	38487153	splice site	probably null
R4812:Ubn2	UTSW	6	38463726	missense	probably benign
R4934:Ubn2	UTSW	6	38490498	missense	probably benign	0.04
R5580:Ubn2	UTSW	6	38483252	missense	probably damaging	0.99
R5598:Ubn2	UTSW	6	38490388	missense	probably benign	0.00
R5672:Ubn2	UTSW	6	38461527	missense	probably damaging	1.00
R5715:Ubn2	UTSW	6	38461477	nonsense	probably null
R5817:Ubn2	UTSW	6	38479153	missense	probably damaging	1.00
R5919:Ubn2	UTSW	6	38491488	missense	possibly damaging	0.50
R5937:Ubn2	UTSW	6	38463982	missense	possibly damaging	0.74
R6033:Ubn2	UTSW	6	38470224	critical splice donor site	probably null
R6033:Ubn2	UTSW	6	38470224	critical splice donor site	probably null
R6174:Ubn2	UTSW	6	38461536	missense	probably damaging	1.00
R6338:Ubn2	UTSW	6	38490714	missense	probably benign	0.00
R6653:Ubn2	UTSW	6	38434462	missense	possibly damaging	0.72
R7282:Ubn2	UTSW	6	38452876	nonsense	probably null
R7685:Ubn2	UTSW	6	38491792	missense	probably benign	0.02
R7727:Ubn2	UTSW	6	38463938	missense	probably benign	0.08
R7777:Ubn2	UTSW	6	38490753	missense	probably damaging	1.00
R8074:Ubn2	UTSW	6	38440540	missense	probably benign	0.13
R8218:Ubn2	UTSW	6	38489279	missense	probably benign	0.01
R8283:Ubn2	UTSW	6	38498728	missense	probably damaging	1.00
RF024:Ubn2	UTSW	6	38463628	missense	probably damaging	1.00
X0010:Ubn2	UTSW	6	38483120	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- ACCTCCGTATTGTAGGTCAGAGGC -3'
(R):5'- GGGTACAGCAAGCAGTTCACACAAG -3'

Sequencing Primer
(F):5'- AGAGGCTTGTTTACTCAGCCAC -3'
(R):5'- TGTCCTCTGCAACTAGAATGG -3'

Posted On

2013-05-09