Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03150:Ubn2'

411064

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubn2

Ensembl Gene

ENSMUSG00000038538

Gene Name

ubinuclein 2

Synonyms

D130059P03Rik, 6030408G03Rik, 2900060J04Rik

Accession Numbers

Genbank: NM_177185; MGI: 2444236

Essential gene?

Probably essential (E-score: 0.906) question?

Stock #

IGL03150

Quality Score

Status

Chromosome

Chromosomal Location

38433950-38524825 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 38463714 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 174 (P174S)

Ref Sequence

ENSEMBL: ENSMUSP00000124352 (fasta)

Gene Model

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

AlphaFold

Q80WC1

Predicted Effect

probably benign
Transcript: ENSMUST00000039127
AA Change: P342S

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

SMART Domains

Protein: ENSMUSP00000036188
Gene: ENSMUSG00000038538
AA Change: P342S

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: ENSMUST00000160583
AA Change: P342S

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

SMART Domains

Protein: ENSMUSP00000124043
Gene: ENSMUSG00000038538
AA Change: P342S

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: ENSMUST00000162026

Predicted Effect

probably benign
Transcript: ENSMUST00000162593
AA Change: P174S

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

SMART Domains

Protein: ENSMUSP00000124352
Gene: ENSMUSG00000038538
AA Change: P174S

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

Validation Efficiency

Allele List at MGI

All alleles(14) : Gene trapped(14)

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,948,066	S1387P	probably damaging	Het
Aadat	C	T	8: 60,543,562	S399L	probably damaging	Het
C530008M17Rik	G	A	5: 76,867,250	E57K	probably damaging	Het
Ccdc36	G	T	9: 108,404,956	T511K	probably damaging	Het
Corin	T	C	5: 72,302,858	D886G	probably damaging	Het
Eif2ak3	A	T	6: 70,892,436	K702N	possibly damaging	Het
Ercc6	G	T	14: 32,558,574	M709I	probably damaging	Het
Foxa1	T	A	12: 57,542,296	E379D	probably benign	Het
Fscb	C	T	12: 64,472,430	G754D	unknown	Het
Gzmb	C	T	14: 56,260,382	V134I	probably benign	Het
Muc5b	A	G	7: 141,865,509	T4010A	possibly damaging	Het
Necab3	A	G	2: 154,554,742	Y55H	probably damaging	Het
Nova1	T	C	12: 46,700,672	N274S	possibly damaging	Het
Nup54	C	A	5: 92,428,164	G156V	probably damaging	Het
Obscn	A	T	11: 59,051,723	C4317S	probably damaging	Het
Papln	T	A	12: 83,782,984	W960R	probably damaging	Het
Pax4	C	A	6: 28,444,339	G239W	probably null	Het
Pcdhb15	C	A	18: 37,475,014	T433N	probably damaging	Het
Ptprj	A	G	2: 90,460,611	S502P	probably damaging	Het
Slit3	A	G	11: 35,508,257	R150G	possibly damaging	Het
Srgap2	A	T	1: 131,310,600	V658E	probably damaging	Het
Taar7e	A	T	10: 24,037,630	D6V	probably benign	Het
Trim25	T	C	11: 89,000,005	C173R	probably damaging	Het
Trmt1l	T	C	1: 151,453,892	S529P	probably benign	Het
Ubox5	A	G	2: 130,600,140	V209A	probably benign	Het
Vmn2r72	A	G	7: 85,751,176	F222L	probably damaging	Het
Xpot	C	T	10: 121,609,186	A374T	probably benign	Het
Zfp451	A	G	1: 33,777,454	C472R	probably damaging	Het
Zfp777	A	G	6: 48,044,125	W232R	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
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
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
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

Posted On

2016-08-02