Mutagenetix > Incidental Mutations

Incidental Mutation 'R2212:Ubn2'

239445

Institutional Source

Beutler Lab

Gene Symbol

Ubn2

Ensembl Gene

ENSMUSG00000038538

Gene Name

ubinuclein 2

Synonyms

D130059P03Rik, 6030408G03Rik, 2900060J04Rik

MMRRC Submission

040214-MU

Accession Numbers

Genbank: NM_177185; MGI: 2444236

Is this an essential gene?

Probably essential (E-score: 0.772) question?

Stock #

R2212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38433950-38524825 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38498739 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1211 (T1211A)

Ref Sequence

ENSEMBL: ENSMUSP00000036188 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000039127
AA Change: T1211A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000036188
Gene: ENSMUSG00000038538
AA Change: T1211A

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

probably benign
Transcript: ENSMUST00000159447

SMART Domains

Protein: ENSMUSP00000123836
Gene: ENSMUSG00000038538

Domain	Start	End	E-Value	Type
low complexity region	119	159	N/A	INTRINSIC
low complexity region	273	285	N/A	INTRINSIC
low complexity region	297	309	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159925

Predicted Effect

probably benign
Transcript: ENSMUST00000160583
AA Change: T1209A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000124043
Gene: ENSMUSG00000038538
AA Change: T1209A

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

probably benign
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

0.0577

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

All alleles(14) : Gene trapped(14)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,470,920	Y6C	probably damaging	Het
3425401B19Rik	T	A	14: 32,661,602	Q802L	probably benign	Het
Adarb2	T	C	13: 8,752,618	F643S	probably damaging	Het
Angptl4	A	G	17: 33,775,418	I401T	probably damaging	Het
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Atp8b4	C	A	2: 126,375,757	W613L	probably damaging	Het
Coq10a	A	G	10: 128,365,129	V93A	possibly damaging	Het
Cyp4f39	A	T	17: 32,487,063	E376V	possibly damaging	Het
Deup1	A	T	9: 15,599,843	D213E	probably benign	Het
Ehmt2	A	G	17: 34,899,365	S39G	probably benign	Het
Eya1	T	A	1: 14,274,209		probably null	Het
Fam92a	A	G	4: 12,171,696		probably null	Het
Fcna	G	C	2: 25,627,493	P49A	probably damaging	Het
Flnb	AAGGAG	AAG	14: 7,881,652		probably benign	Het
Fscn2	G	T	11: 120,361,591		probably benign	Het
Gckr	T	A	5: 31,300,867		probably null	Het
Golgb1	A	G	16: 36,887,347	K68E	probably damaging	Het
H2-M11	G	A	17: 36,548,930	V272M	probably damaging	Het
Hace1	T	A	10: 45,648,675	D234E	possibly damaging	Het
Il18r1	A	T	1: 40,491,067	D318V	probably damaging	Het
Il4i1	T	C	7: 44,836,658	L22P	probably damaging	Het
Kcnq3	A	T	15: 66,020,293	F411Y	probably benign	Het
Kcnt2	A	G	1: 140,530,800	Y775C	probably damaging	Het
Krt84	A	C	15: 101,532,538	V73G	probably benign	Het
Lcp2	A	C	11: 34,070,995	D117A	probably benign	Het
Lemd1	C	A	1: 132,228,286	T22K	probably benign	Het
Mdm4	T	C	1: 132,994,522	D294G	probably damaging	Het
Mep1a	G	A	17: 43,477,263	A634V	probably benign	Het
Myh15	A	G	16: 49,138,732	D989G	probably benign	Het
Myo1g	G	T	11: 6,517,870	H188Q	possibly damaging	Het
Nsmaf	C	A	4: 6,396,732	L918F	probably damaging	Het
Olfr1396	C	T	11: 49,113,216	C170Y	probably damaging	Het
Olfr561	T	C	7: 102,774,755	L77P	possibly damaging	Het
Olfr635	T	C	7: 103,979,402	L76P	probably damaging	Het
Olfr963	T	A	9: 39,669,228	M57K	probably damaging	Het
Pfkfb2	A	T	1: 130,707,532	N97K	probably damaging	Het
Phlda1	A	T	10: 111,507,168	E255V	probably damaging	Het
Pla2g4f	T	C	2: 120,303,106	S579G	probably benign	Het
Plcz1	C	T	6: 140,002,081	R525Q	probably damaging	Het
Ppargc1b	G	A	18: 61,311,220	Q291*	probably null	Het
Ppef2	T	G	5: 92,228,722	S649R	probably damaging	Het
Ppp1r3b	A	G	8: 35,384,225	T73A	possibly damaging	Het
Prss43	G	C	9: 110,829,464	Q277H	probably damaging	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Serpina3j	G	A	12: 104,314,726	D53N	probably damaging	Het
Sez6l	A	G	5: 112,475,361	L108P	possibly damaging	Het
Slc1a7	A	G	4: 108,010,994	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606	S423C	probably damaging	Het
Spata13	A	G	14: 60,706,723	T522A	probably benign	Het
Spryd3	A	G	15: 102,130,276		probably null	Het
Sry	T	A	Y: 2,663,339	N107I	probably damaging	Het
St6galnac1	A	G	11: 116,765,856	W486R	probably damaging	Het
Syt1	G	T	10: 108,504,414	P348T	possibly damaging	Het
Taok2	T	C	7: 126,870,858	I933V	possibly damaging	Het
Tex9	C	A	9: 72,477,758	Q265H	possibly damaging	Het
Tmem63a	G	A	1: 180,963,114	D446N	possibly damaging	Het
Trim59	T	C	3: 69,037,543	T155A	probably benign	Het
Trim69	T	C	2: 122,178,644	V395A	probably benign	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Ubash3a	A	T	17: 31,218,034	Q208H	probably damaging	Het
Vmn2r110	A	T	17: 20,573,947		probably null	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Zfyve28	C	T	5: 34,199,684	M723I	probably benign	Het
Zmynd8	A	T	2: 165,815,451	M533K	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
R0267:Ubn2	UTSW	6	38482618	critical splice donor site	probably null
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
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
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'- CTATCACTTGCAAACTTTCAGAACC -3'
(R):5'- AGAGCAGCACTTACTCTGGG -3'

Sequencing Primer
(F):5'- TTTCACCTCAGTCTTAATTTCCTTG -3'
(R):5'- CAGCACTTACTCTGGGTTAGGC -3'

Posted On

2014-10-15