Mutagenetix > Incidental Mutation

Incidental Mutation 'R6338:Ubn2'

514318

Institutional Source

Beutler Lab

Gene Symbol

Ubn2

Ensembl Gene

ENSMUSG00000038538

Gene Name

ubinuclein 2

Synonyms

D130059P03Rik, 6030408G03Rik, 2900060J04Rik

MMRRC Submission

Accession Numbers

Genbank: NM_177185; MGI: 2444236

Is this an essential gene?

Probably essential (E-score: 0.806) question?

Stock #

R6338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38433950-38524825 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38490714 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 788 (T788A)

Ref Sequence

ENSEMBL: ENSMUSP00000036188 (fasta)

Gene Model

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

AlphaFold

Q80WC1

Predicted Effect

probably benign
Transcript: ENSMUST00000039127
AA Change: T788A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000036188
Gene: ENSMUSG00000038538
AA Change: T788A

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

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: T786A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124043
Gene: ENSMUSG00000038538
AA Change: T786A

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: ENSMUST00000162423

Predicted Effect

probably benign
Transcript: ENSMUST00000162593
AA Change: T635A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124352
Gene: ENSMUSG00000038538
AA Change: T635A

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

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.8%

Validation Efficiency

Allele List at MGI

All alleles(14) : Gene trapped(14)

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	T	C	7: 98,257,715	Y128C	probably damaging	Het
Adam30	T	G	3: 98,161,541	I102S	probably damaging	Het
Adcy8	A	T	15: 64,920,617	D163E	possibly damaging	Het
Agrn	C	T	4: 156,170,585	E1614K	probably benign	Het
Aldh16a1	A	T	7: 45,141,961	W107R	probably damaging	Het
Arfgef2	A	G	2: 166,845,570	D238G	probably damaging	Het
Arhgap11a	T	C	2: 113,833,725	S738G	probably benign	Het
Arid5b	C	A	10: 68,098,561	G504*	probably null	Het
Carmil3	T	C	14: 55,499,849	V763A	possibly damaging	Het
Cd209e	T	A	8: 3,849,154	D186V	probably damaging	Het
Cdh23	T	C	10: 60,413,151	D882G	probably damaging	Het
Cdh4	T	C	2: 179,890,812	V689A	probably damaging	Het
Cntn6	T	A	6: 104,726,139	V174E	probably damaging	Het
Col7a1	C	T	9: 108,956,633	T390M	unknown	Het
Crybg1	T	C	10: 43,992,509	D1017G	probably damaging	Het
Csmd1	T	G	8: 15,932,492	K2725T	possibly damaging	Het
Dnaaf2	T	C	12: 69,198,122	E55G	probably damaging	Het
Fam13a	A	G	6: 58,953,499	V476A	probably damaging	Het
Fem1b	A	T	9: 62,797,011	D322E	probably benign	Het
Frmpd1	G	A	4: 45,274,489	V466I	probably benign	Het
Gm11639	C	T	11: 104,843,208	R2027*	probably null	Het
Gm20671	A	T	5: 32,820,647	D1794E	probably damaging	Het
Gpatch2	G	T	1: 187,225,514	R22L	probably damaging	Het
Gtf2h1	A	G	7: 46,816,456	T450A	probably benign	Het
Kcnc2	G	C	10: 112,271,856	G51R	probably benign	Het
Krit1	T	G	5: 3,836,857	M702R	probably benign	Het
Krt34	T	C	11: 100,038,490	N298S	probably benign	Het
Lrrcc1	T	A	3: 14,547,316	N376K	possibly damaging	Het
Myo15	A	G	11: 60,478,133	E573G	probably damaging	Het
Olfr1224-ps1	T	A	2: 89,156,371	K268I	probably damaging	Het
Olfr1390	A	G	11: 49,340,867	S112G	probably benign	Het
Olfr366	A	T	2: 37,219,822	D111V	probably damaging	Het
Olfr391-ps	A	T	11: 73,799,319	L146Q	possibly damaging	Het
Olfr661	T	A	7: 104,688,171	V52E	possibly damaging	Het
Olfr736	T	A	14: 50,393,400	F215I	possibly damaging	Het
Phf20	A	T	2: 156,273,686	Q309L	possibly damaging	Het
Plcd1	G	A	9: 119,074,991	R292C	probably damaging	Het
Pold3	A	G	7: 100,088,105	V342A	possibly damaging	Het
Polr2a	A	T	11: 69,739,679		probably null	Het
Ptprcap	A	G	19: 4,156,224	E102G	probably benign	Het
Rab11fip5	T	C	6: 85,341,378	E843G	possibly damaging	Het
Rai14	T	C	15: 10,574,976	D632G	probably damaging	Het
Rnf149	A	T	1: 39,560,742	C268S	probably null	Het
Slc6a13	T	A	6: 121,334,839	F392I	probably damaging	Het
Slc7a11	C	T	3: 50,384,043		probably null	Het
Slf1	T	A	13: 77,084,462		probably null	Het
Stard9	G	A	2: 120,697,485	V1408I	probably benign	Het
Suclg1	T	C	6: 73,264,246	I183T	probably damaging	Het
Syne1	T	C	10: 5,255,475	E3497G	probably benign	Het
Tax1bp1	C	T	6: 52,729,376	R121*	probably null	Het
Tdpoz2	C	T	3: 93,652,336	V110I	probably benign	Het
Unc13c	T	A	9: 73,734,447	I1255F	probably damaging	Het
Usp44	G	T	10: 93,846,513	R275I	probably damaging	Het
Uspl1	A	G	5: 149,215,034	N1015D	probably benign	Het
Wbp2nl	G	T	15: 82,299,045	W13C	possibly damaging	Het
Zc3h14	T	A	12: 98,758,590	D170E	possibly 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
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
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
R9339:Ubn2	UTSW	6	38483144	missense	probably benign	0.17
R9781:Ubn2	UTSW	6	38489255	missense	probably benign
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'- GATGACTCCCTCGATGAAGAC -3'
(R):5'- TGGCTTGACCTTTGCAGTCC -3'

Sequencing Primer
(F):5'- GATGACTCCCTCGATGAAGACCTTTC -3'
(R):5'- CTGGAGTAGCCTGGCTGG -3'

Posted On

2018-04-27