Mutagenetix > Incidental Mutation

Incidental Mutation 'R0755:Urb1'

70476

Institutional Source

Beutler Lab

Gene Symbol

Urb1

Ensembl Gene

ENSMUSG00000039929

Gene Name

URB1 ribosome biogenesis 1 homolog (S. cerevisiae)

Synonyms

4921511H13Rik, 5730405K23Rik

MMRRC Submission

038935-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0755 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90751527-90810413 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90779138 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 843 (F843L)

Ref Sequence

ENSEMBL: ENSMUSP00000114717 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000140920
AA Change: F843L

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

SMART Domains

Protein: ENSMUSP00000114717
Gene: ENSMUSG00000039929
AA Change: F843L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142955

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,946,364	S1231P	probably damaging	Het
A730061H03Rik	A	T	14: 55,560,181		probably benign	Het
Acin1	A	G	14: 54,651,835	M1T	probably null	Het
Akp3	G	A	1: 87,127,871	G547R	unknown	Het
Aldh1a1	A	G	19: 20,617,994	M96V	probably benign	Het
Ankfn1	T	A	11: 89,392,087	M245L	probably benign	Het
Arhgap19	T	C	19: 41,781,175	K54E	probably damaging	Het
Atp1a2	T	C	1: 172,289,381	Q223R	probably benign	Het
Atp8a2	C	T	14: 60,009,881	V557I	possibly damaging	Het
AU041133	A	T	10: 82,150,890	K126*	probably null	Het
Axin1	T	A	17: 26,182,506	Y351N	possibly damaging	Het
Baiap2l1	T	C	5: 144,284,557	K176E	probably damaging	Het
Baz2a	C	T	10: 128,119,691	T848I	possibly damaging	Het
Bbs2	A	C	8: 94,082,080	V333G	probably benign	Het
BC051019	G	A	7: 109,716,095	Q318*	probably null	Het
Cdc37	C	T	9: 21,139,864	D362N	probably damaging	Het
Cep170	A	T	1: 176,755,753	V1020E	probably damaging	Het
Chrm4	T	C	2: 91,928,402	V385A	probably benign	Het
Cntrl	G	A	2: 35,145,139	S373N	probably damaging	Het
Col23a1	G	A	11: 51,576,879	G19D	probably damaging	Het
Cyb5r4	G	T	9: 87,029,572	A100S	probably damaging	Het
Dctn1	C	T	6: 83,189,077	P115S	probably damaging	Het
Dhrs2	C	T	14: 55,234,790	T46M	probably damaging	Het
Disp2	T	C	2: 118,789,762	F325S	probably benign	Het
Dnah11	T	G	12: 117,954,829	T3456P	possibly damaging	Het
Dnah11	C	A	12: 118,198,625	V70F	probably benign	Het
Duoxa1	T	A	2: 122,304,680	T195S	probably benign	Het
Eif2ak1	T	A	5: 143,884,924	F353I	possibly damaging	Het
Esam	A	G	9: 37,536,702	T211A	probably damaging	Het
Faf1	A	G	4: 109,961,839	N636S	probably benign	Het
Fbxo25	A	G	8: 13,935,219	Y305C	probably benign	Het
Fchsd1	C	T	18: 37,968,750		probably null	Het
Fdxacb1	T	A	9: 50,771,725	D329E	possibly damaging	Het
Gm4070	A	T	7: 105,896,685	F2387I	possibly damaging	Het
Hbq1b	A	T	11: 32,287,104		probably null	Het
Hmcn2	T	A	2: 31,453,160	V4566E	probably damaging	Het
Igkv6-29	G	A	6: 70,139,069	T5I	probably benign	Het
Itfg1	A	T	8: 85,726,205	D511E	possibly damaging	Het
Jmjd1c	C	T	10: 67,096,599		probably benign	Het
Kat6b	T	A	14: 21,637,593	M570K	probably damaging	Het
Kdm4d	T	A	9: 14,464,295	K89M	probably damaging	Het
Krt19	A	T	11: 100,142,139	D194E	possibly damaging	Het
Lamc1	A	T	1: 153,247,450	Y665N	possibly damaging	Het
Lct	A	T	1: 128,294,135	S1556T	possibly damaging	Het
Macf1	A	G	4: 123,369,926	L4924P	probably damaging	Het
Mef2c	G	A	13: 83,656,353		probably null	Het
Mff	G	A	1: 82,750,605		probably null	Het
Mycbp2	A	T	14: 103,174,794	L2581Q	probably damaging	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Nos3	T	A	5: 24,367,297	L123M	probably damaging	Het
Ntn5	C	T	7: 45,686,528	P128S	probably benign	Het
Nudt9	T	C	5: 104,065,054	V331A	probably damaging	Het
Olfr131	A	T	17: 38,082,194	Y261*	probably null	Het
Olfr854	T	C	9: 19,567,119	I88M	possibly damaging	Het
Pcdh7	A	T	5: 57,720,322	K406N	possibly damaging	Het
Pkdrej	T	A	15: 85,816,135	I1867L	probably benign	Het
Plppr4	C	T	3: 117,322,670	G455R	possibly damaging	Het
Pramef6	A	G	4: 143,897,729	V66A	probably damaging	Het
Prkag2	G	C	5: 24,947,631	S158R	probably benign	Het
Ptprq	T	G	10: 107,582,539	T1659P	probably benign	Het
Rasl12	A	G	9: 65,410,959	K202E	probably benign	Het
Rb1	A	C	14: 73,197,213	*922G	probably null	Het
Rsf1	C	T	7: 97,579,967	P22S	probably damaging	Het
Scn1a	T	G	2: 66,321,035	T797P	probably damaging	Het
Sgsm2	A	G	11: 74,865,497	V342A	probably damaging	Het
Slc22a7	T	G	17: 46,438,187	H68P	possibly damaging	Het
Slc4a2	G	A	5: 24,435,577	A652T	probably benign	Het
Slc5a1	T	A	5: 33,133,389	L106M	probably benign	Het
Slco1c1	C	T	6: 141,531,532	P19S	probably damaging	Het
Snx1	A	G	9: 66,098,456	F127S	probably damaging	Het
Snx31	A	T	15: 36,534,430	I199N	probably damaging	Het
Snx33	T	C	9: 56,925,457	I443V	possibly damaging	Het
Sptbn1	A	G	11: 30,139,016	F749L	probably damaging	Het
Stoml3	T	A	3: 53,498,138	Y53*	probably null	Het
Stxbp2	A	G	8: 3,642,019	T554A	probably benign	Het
Tal1	T	C	4: 115,068,376	I214T	probably damaging	Het
Tas2r137	T	A	6: 40,491,410	I58N	probably damaging	Het
Thap1	A	G	8: 26,158,473	Y8C	probably damaging	Het
Thsd7a	A	T	6: 12,555,369	L172Q	probably damaging	Het
Ube3c	T	A	5: 29,637,742	D735E	probably damaging	Het
Unc80	G	A	1: 66,504,923	D402N	probably damaging	Het
Upf1	G	T	8: 70,334,129	R902S	probably benign	Het
Vmn1r198	C	T	13: 22,355,232	T296I	probably benign	Het
Vmn1r33	A	T	6: 66,611,908	S221T	probably damaging	Het
Vmn2r103	A	G	17: 19,773,568	D69G	probably benign	Het
Vmn2r14	T	G	5: 109,216,360	L563F	possibly damaging	Het
Vmn2r60	G	A	7: 42,195,445	G744D	probably damaging	Het
Vstm4	T	C	14: 32,892,644	V181A	probably damaging	Het
Wdr60	T	C	12: 116,211,792	I922V	probably benign	Het
Wdr72	G	A	9: 74,145,094	V136I	probably benign	Het
Zfp236	T	A	18: 82,620,332	N1388Y	probably damaging	Het
Zfp53	T	A	17: 21,508,577	F291I	probably damaging	Het
Zfp944	A	T	17: 22,339,908	H119Q	possibly damaging	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
IGL02516:Urb1	APN	16	90772695	missense	possibly damaging	0.49
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
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
R9276:Urb1	UTSW	16	90772575	splice site	probably benign
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

Predicted Primers

PCR Primer
(F):5'- CATTCCTCACGTAAGCAGAGGACAG -3'
(R):5'- GGCATCAGGTCAGTATCTCAGAAGC -3'

Sequencing Primer
(F):5'- AAGGTGAAGGCCCGACTC -3'
(R):5'- GGTCAGTATCTCAGAAGCAACCTC -3'

Posted On

2013-09-30