Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02516:Urb1'

296772

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Urb1

Ensembl Gene

ENSMUSG00000039929

Gene Name

URB1 ribosome biogenesis 1 homolog (S. cerevisiae)

Synonyms

4921511H13Rik, 5730405K23Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02516

Quality Score

Status

Chromosome

Chromosomal Location

90751527-90810413 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 90772695 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 1381 (T1381N)

Ref Sequence

ENSEMBL: ENSMUSP00000114717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000140920]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140158

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140920
AA Change: T1381N

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114717
Gene: ENSMUSG00000039929
AA Change: T1381N

Domain	Start	End	E-Value	Type
low complexity region	8	20	N/A	INTRINSIC
Pfam:Npa1	78	396	1.5e-86	PFAM
low complexity region	751	761	N/A	INTRINSIC
low complexity region	955	966	N/A	INTRINSIC
low complexity region	1126	1137	N/A	INTRINSIC
low complexity region	1360	1375	N/A	INTRINSIC
Pfam:NopRA1	1670	1859	3.6e-60	PFAM
low complexity region	2029	2040	N/A	INTRINSIC
low complexity region	2092	2111	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	C	T	8: 24,898,596	S364N	probably damaging	Het
AI314180	T	C	4: 58,877,102	E111G	probably damaging	Het
Ano8	C	T	8: 71,485,077	G47D	probably damaging	Het
App	T	C	16: 84,955,417	T743A	probably damaging	Het
Armc3	A	G	2: 19,300,506	K692E	possibly damaging	Het
Arpp21	T	C	9: 112,185,661	N25S	probably damaging	Het
Avpr1b	G	A	1: 131,600,629	V297I	probably damaging	Het
Bpi	A	G	2: 158,267,731	I200V	possibly damaging	Het
Cacna2d4	C	T	6: 119,271,870		probably benign	Het
Cbarp	A	G	10: 80,135,545	Y149H	probably damaging	Het
Ccdc85c	T	C	12: 108,274,901	N78S	unknown	Het
Cdcp1	G	T	9: 123,173,637	L790M	possibly damaging	Het
Cdkn2d	T	A	9: 21,289,143	I111F	probably benign	Het
Ctsr	A	G	13: 61,163,178	V18A	probably benign	Het
Dapk1	A	G	13: 60,696,347	D60G	probably damaging	Het
Daw1	A	C	1: 83,209,228	N253T	probably benign	Het
Dcaf7	T	A	11: 106,051,872	I215N	probably damaging	Het
Ddc	A	C	11: 11,829,125	L333R	probably damaging	Het
Dennd1a	A	G	2: 37,852,394		probably null	Het
Dnah10	C	A	5: 124,787,331	T2200K	probably damaging	Het
Dock6	T	C	9: 21,802,585	Y1883C	probably damaging	Het
Eif2ak4	T	A	2: 118,436,254	I752N	probably damaging	Het
Fcho2	A	G	13: 98,730,212	I740T	probably benign	Het
Flnc	A	G	6: 29,450,841	D1496G	probably damaging	Het
Fn1	A	G	1: 71,637,323	V583A	possibly damaging	Het
Grasp	G	A	15: 101,229,051	V137I	probably damaging	Het
Greb1l	A	C	18: 10,537,064	T1010P	probably benign	Het
Hs3st6	T	C	17: 24,758,131	L195P	probably damaging	Het
Hyi	A	G	4: 118,362,483	E239G	probably damaging	Het
Ighv2-3	G	T	12: 113,611,198	Y112*	probably null	Het
Ints3	A	G	3: 90,403,108	F495S	probably damaging	Het
Itih2	T	A	2: 10,097,917	H802L	probably benign	Het
Jag2	C	T	12: 112,910,566	V990M	probably damaging	Het
Kat6b	T	C	14: 21,609,868		probably benign	Het
Krtap4-8	C	T	11: 99,780,342		probably benign	Het
Lhx4	A	G	1: 155,702,257	S380P	probably damaging	Het
Morn3	C	A	5: 123,037,300	E33*	probably null	Het
Mug2	C	T	6: 122,070,843	A771V	probably damaging	Het
N4bp3	A	T	11: 51,644,334	S343T	probably benign	Het
Nlrp1a	T	C	11: 71,114,460	N643S	probably damaging	Het
Olfr15	A	C	16: 3,839,336	D121A	probably damaging	Het
Olfr767	T	A	10: 129,079,793	M57L	possibly damaging	Het
Olfr93	T	A	17: 37,151,272	R79S	possibly damaging	Het
Phc3	A	G	3: 30,948,793	F192S	probably damaging	Het
Pigq	C	T	17: 25,937,247	R69H	probably benign	Het
Plk3	A	G	4: 117,131,989	C222R	probably damaging	Het
Pomt2	T	C	12: 87,119,646	T490A	probably benign	Het
Prss29	T	C	17: 25,320,901	I91T	probably damaging	Het
Ralgapb	A	T	2: 158,465,815		probably benign	Het
Sccpdh	G	A	1: 179,681,691	G75D	probably damaging	Het
Serpine2	T	C	1: 79,794,997		probably benign	Het
Sfr1	T	G	19: 47,732,990		probably null	Het
Slc22a23	C	A	13: 34,203,955	C386F	probably benign	Het
Slc22a27	T	C	19: 7,864,811	K433R	probably damaging	Het
Slc39a12	T	C	2: 14,400,335	L246P	probably damaging	Het
Slc4a11	A	G	2: 130,691,393	I191T	possibly damaging	Het
Slc9c1	A	G	16: 45,577,875	N668D	probably damaging	Het
Supt16	A	T	14: 52,183,964	D41E	possibly damaging	Het
Ugt2b37	A	G	5: 87,240,882	S491P	probably damaging	Het
Usp8	A	G	2: 126,742,174	I423M	probably benign	Het
Vmn1r191	T	A	13: 22,179,540	I15F	probably benign	Het
Zbtb5	A	T	4: 44,993,798	Y529N	probably damaging	Het
Zfp541	T	A	7: 16,082,993		probably null	Het

Other mutations in Urb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00715:Urb1	APN	16	90753321	critical splice donor site	probably null
IGL00915:Urb1	APN	16	90779098	missense	possibly damaging	0.76
IGL01108:Urb1	APN	16	90792814	missense	probably damaging	1.00
IGL01122:Urb1	APN	16	90804458	missense	possibly damaging	0.81
IGL01387:Urb1	APN	16	90757761	missense	possibly damaging	0.64
IGL01484:Urb1	APN	16	90777560	missense	probably benign	0.11
IGL01606:Urb1	APN	16	90760459	missense	probably damaging	1.00
IGL01989:Urb1	APN	16	90769586	splice site	probably benign
IGL03018:Urb1	APN	16	90788156	missense	probably benign	0.02
IGL03165:Urb1	APN	16	90780304	missense	probably damaging	1.00
IGL03216:Urb1	APN	16	90788114	missense	probably benign	0.00
H8562:Urb1	UTSW	16	90769469	missense	probably benign	0.08
H8786:Urb1	UTSW	16	90769469	missense	probably benign	0.08
R0064:Urb1	UTSW	16	90779140	missense	probably benign
R0064:Urb1	UTSW	16	90779140	missense	probably benign
R0359:Urb1	UTSW	16	90791160	missense	probably damaging	1.00
R0386:Urb1	UTSW	16	90796399	missense	probably damaging	1.00
R0508:Urb1	UTSW	16	90783262	splice site	probably benign
R0517:Urb1	UTSW	16	90777422	nonsense	probably null
R0704:Urb1	UTSW	16	90776207	missense	probably benign	0.31
R0755:Urb1	UTSW	16	90774094	missense	probably damaging	1.00
R0755:Urb1	UTSW	16	90779138	missense	probably benign
R0783:Urb1	UTSW	16	90810297	missense	possibly damaging	0.55
R0833:Urb1	UTSW	16	90795448	missense	possibly damaging	0.89
R0836:Urb1	UTSW	16	90795448	missense	possibly damaging	0.89
R0970:Urb1	UTSW	16	90769447	missense	possibly damaging	0.83
R1144:Urb1	UTSW	16	90776318	splice site	probably null
R1344:Urb1	UTSW	16	90769466	missense	probably damaging	1.00
R1418:Urb1	UTSW	16	90769466	missense	probably damaging	1.00
R1453:Urb1	UTSW	16	90796492	missense	probably damaging	1.00
R1470:Urb1	UTSW	16	90752014	missense	probably benign	0.34
R1470:Urb1	UTSW	16	90752014	missense	probably benign	0.34
R1520:Urb1	UTSW	16	90774745	missense	probably benign	0.00
R1521:Urb1	UTSW	16	90753863	missense	probably damaging	1.00
R1598:Urb1	UTSW	16	90777440	missense	possibly damaging	0.93
R1617:Urb1	UTSW	16	90760452	missense	possibly damaging	0.82
R1625:Urb1	UTSW	16	90774048	critical splice donor site	probably null
R1640:Urb1	UTSW	16	90772626	missense	probably benign	0.00
R1664:Urb1	UTSW	16	90788082	critical splice donor site	probably null
R1672:Urb1	UTSW	16	90787397	missense	probably damaging	1.00
R1694:Urb1	UTSW	16	90767040	missense	probably benign
R1856:Urb1	UTSW	16	90761695	missense	probably benign	0.00
R2001:Urb1	UTSW	16	90762344	missense	probably benign	0.30
R2196:Urb1	UTSW	16	90774256	missense	probably benign	0.01
R2850:Urb1	UTSW	16	90774256	missense	probably benign	0.01
R3009:Urb1	UTSW	16	90774798	missense	probably benign	0.09
R3104:Urb1	UTSW	16	90795443	missense	probably damaging	1.00
R3105:Urb1	UTSW	16	90795443	missense	probably damaging	1.00
R3106:Urb1	UTSW	16	90795443	missense	probably damaging	1.00
R3160:Urb1	UTSW	16	90797903	missense	probably damaging	1.00
R3162:Urb1	UTSW	16	90797903	missense	probably damaging	1.00
R3900:Urb1	UTSW	16	90783376	missense	possibly damaging	0.86
R4014:Urb1	UTSW	16	90769465	missense	probably damaging	1.00
R4036:Urb1	UTSW	16	90788086	missense	probably benign
R4332:Urb1	UTSW	16	90774537	missense	probably damaging	1.00
R4448:Urb1	UTSW	16	90769394	missense	possibly damaging	0.71
R4581:Urb1	UTSW	16	90788146	missense	probably benign	0.04
R4593:Urb1	UTSW	16	90787444	missense	probably damaging	1.00
R4610:Urb1	UTSW	16	90776271	missense	probably benign	0.43
R4659:Urb1	UTSW	16	90776129	missense	probably damaging	0.96
R4672:Urb1	UTSW	16	90772634	missense	probably benign
R4681:Urb1	UTSW	16	90804537	missense	probably damaging	0.99
R4771:Urb1	UTSW	16	90753518	missense	probably benign	0.00
R4790:Urb1	UTSW	16	90769555	nonsense	probably null
R4798:Urb1	UTSW	16	90757827	missense	probably benign	0.12
R4809:Urb1	UTSW	16	90759842	missense	possibly damaging	0.82
R4850:Urb1	UTSW	16	90795414	nonsense	probably null
R4916:Urb1	UTSW	16	90783328	missense	probably damaging	1.00
R4969:Urb1	UTSW	16	90805411	missense	probably damaging	1.00
R5032:Urb1	UTSW	16	90756171	missense	probably benign	0.00
R5111:Urb1	UTSW	16	90752017	missense	probably benign	0.00
R5122:Urb1	UTSW	16	90752095	nonsense	probably null
R5184:Urb1	UTSW	16	90783274	critical splice donor site	probably null
R5199:Urb1	UTSW	16	90792748	missense	possibly damaging	0.95
R5436:Urb1	UTSW	16	90792762	missense	probably damaging	1.00
R5767:Urb1	UTSW	16	90776163	missense	probably benign	0.00
R5812:Urb1	UTSW	16	90804537	missense	probably damaging	0.99
R5872:Urb1	UTSW	16	90772764	nonsense	probably null
R6052:Urb1	UTSW	16	90762383	missense	probably damaging	1.00
R6063:Urb1	UTSW	16	90789097	missense	probably benign	0.02
R6065:Urb1	UTSW	16	90803332	missense	probably benign	0.03
R6181:Urb1	UTSW	16	90779094	missense	probably benign	0.00
R6268:Urb1	UTSW	16	90753919	missense	probably benign	0.03
R6429:Urb1	UTSW	16	90762430	splice site	probably null
R6572:Urb1	UTSW	16	90787414	missense	probably benign	0.37
R6606:Urb1	UTSW	16	90810268	missense	probably benign	0.00
R6730:Urb1	UTSW	16	90779083	missense	possibly damaging	0.89
R6838:Urb1	UTSW	16	90782106	missense	possibly damaging	0.93
R7237:Urb1	UTSW	16	90791166	missense	probably damaging	1.00
R7238:Urb1	UTSW	16	90752115	missense	possibly damaging	0.88
R7339:Urb1	UTSW	16	90772573	critical splice donor site	probably benign
R7341:Urb1	UTSW	16	90772573	critical splice donor site	probably benign
R7361:Urb1	UTSW	16	90774768	missense	probably damaging	0.99
R7365:Urb1	UTSW	16	90772573	critical splice donor site	probably benign
R7366:Urb1	UTSW	16	90772573	critical splice donor site	probably benign
R7440:Urb1	UTSW	16	90787408	missense	probably damaging	1.00
R7530:Urb1	UTSW	16	90761634	missense	probably damaging	1.00
R7553:Urb1	UTSW	16	90792864	missense	probably damaging	1.00
R7557:Urb1	UTSW	16	90772573	critical splice donor site	probably benign
R7603:Urb1	UTSW	16	90772573	critical splice donor site	probably benign
R7607:Urb1	UTSW	16	90772573	critical splice donor site	probably benign
R7609:Urb1	UTSW	16	90772573	critical splice donor site	probably benign
R7610:Urb1	UTSW	16	90772573	critical splice donor site	probably benign
R7612:Urb1	UTSW	16	90797910	missense	probably damaging	1.00
R7613:Urb1	UTSW	16	90772573	critical splice donor site	probably benign
R7684:Urb1	UTSW	16	90786118	nonsense	probably null
R8029:Urb1	UTSW	16	90779152	missense	possibly damaging	0.67
R8324:Urb1	UTSW	16	90791190	missense	probably damaging	1.00
R8680:Urb1	UTSW	16	90774625	missense	probably benign	0.00
R8785:Urb1	UTSW	16	90803423	missense	probably benign	0.07
R8914:Urb1	UTSW	16	90810234	missense	probably damaging	1.00
R8959:Urb1	UTSW	16	90774117	missense	probably benign	0.26
R9005:Urb1	UTSW	16	90753790	missense	probably benign	0.01
R9126:Urb1	UTSW	16	90769402	missense	possibly damaging	0.53
R9195:Urb1	UTSW	16	90792750	missense	probably benign	0.03
R9534:Urb1	UTSW	16	90786208	missense	possibly damaging	0.54
Z1177:Urb1	UTSW	16	90753883	missense	probably benign	0.00
Z1177:Urb1	UTSW	16	90774862	missense	probably benign	0.05

Posted On

2015-04-16