Mutagenetix > Incidental Mutation

Incidental Mutation 'R1664:Urb1'

187059

Institutional Source

Beutler Lab

Gene Symbol

Urb1

Ensembl Gene

ENSMUSG00000039929

Gene Name

URB1 ribosome biogenesis 1 homolog (S. cerevisiae)

Synonyms

4921511H13Rik, 5730405K23Rik

MMRRC Submission

039700-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1664 (G1)

Quality Score

126

Status

Not validated

Chromosome

Chromosomal Location

90751527-90810413 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 90788082 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114717 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000140920

SMART Domains

Protein: ENSMUSP00000114717
Gene: ENSMUSG00000039929

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

probably null
Transcript: ENSMUST00000140920

SMART Domains

Protein: ENSMUSP00000114717
Gene: ENSMUSG00000039929

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	T	A	17: 33,066,518 (GRCm38)	I437F	probably damaging	Het
4930596D02Rik	T	A	14: 35,811,815 (GRCm38)	T45S	probably benign	Het
Ackr1	A	G	1: 173,332,866 (GRCm38)	F29L	probably benign	Het
Adgrf2	T	A	17: 42,714,414 (GRCm38)	S60C	possibly damaging	Het
Alpk2	A	G	18: 65,349,873 (GRCm38)	C355R	probably damaging	Het
Ankmy1	A	C	1: 92,885,191 (GRCm38)	D465E	probably benign	Het
Ankrd27	T	A	7: 35,607,126 (GRCm38)	D310E	probably damaging	Het
Ap3d1	G	A	10: 80,717,737 (GRCm38)	Q559*	probably null	Het
C4b	T	C	17: 34,732,978 (GRCm38)	T1298A	probably damaging	Het
Casr	T	A	16: 36,509,965 (GRCm38)	K336*	probably null	Het
Ccdc116	A	T	16: 17,142,628 (GRCm38)	D108E	probably benign	Het
Ccr7	A	T	11: 99,145,691 (GRCm38)	I135N	possibly damaging	Het
Cd96	A	G	16: 46,118,001 (GRCm38)	Y34H	possibly damaging	Het
Cdan1	T	A	2: 120,720,506 (GRCm38)	D1135V	probably damaging	Het
Cecr2	C	A	6: 120,762,026 (GRCm38)	T1210K	probably damaging	Het
Cep152	C	A	2: 125,566,254 (GRCm38)	A1390S	probably benign	Het
Chd9	T	G	8: 91,022,790 (GRCm38)		probably null	Het
Cntnap5c	G	T	17: 58,293,990 (GRCm38)	W776L	probably benign	Het
Col24a1	G	A	3: 145,389,600 (GRCm38)		probably null	Het
Cpa2	G	T	6: 30,554,315 (GRCm38)	M311I	probably damaging	Het
Cpz	A	G	5: 35,506,743 (GRCm38)	F483L	probably damaging	Het
Ddx19a	A	C	8: 110,989,498 (GRCm38)	V90G	probably damaging	Het
Fabp3	C	T	4: 130,312,387 (GRCm38)	T57I	probably benign	Het
Fbxw7	A	G	3: 84,969,171 (GRCm38)	D213G	possibly damaging	Het
Fgd2	T	C	17: 29,369,299 (GRCm38)	F362L	probably damaging	Het
Fryl	A	G	5: 73,059,435 (GRCm38)	Y2171H	probably damaging	Het
Gba2	T	C	4: 43,578,080 (GRCm38)	R90G	probably benign	Het
Gm10073	T	C	8: 106,573,232 (GRCm38)	E40G	probably damaging	Het
Gm8251	T	A	1: 44,059,227 (GRCm38)	I904F	possibly damaging	Het
Grhl3	T	C	4: 135,552,550 (GRCm38)	I398V	probably benign	Het
Grip2	T	A	6: 91,765,252 (GRCm38)	H899L	probably damaging	Het
Grk2	T	C	19: 4,287,240 (GRCm38)	K644E	possibly damaging	Het
Iars	A	T	13: 49,711,775 (GRCm38)	T576S	probably damaging	Het
Kif26b	G	A	1: 178,932,139 (GRCm38)	V2084M	probably damaging	Het
Kirrel	C	T	3: 87,089,151 (GRCm38)	M380I	probably null	Het
Lrrc69	G	A	4: 14,775,079 (GRCm38)	T63M	probably damaging	Het
Lrrn4	A	T	2: 132,869,966 (GRCm38)	C646S	probably damaging	Het
Mtf2	C	T	5: 108,104,476 (GRCm38)	T457M	probably damaging	Het
Ncln	A	T	10: 81,487,721 (GRCm38)	C531S	probably benign	Het
Ntn4	C	T	10: 93,707,353 (GRCm38)	R314W	probably damaging	Het
Olfr110	C	T	17: 37,499,425 (GRCm38)	T258M	possibly damaging	Het
Olfr251	A	T	9: 38,378,252 (GRCm38)	M124L	possibly damaging	Het
Olfr761	T	C	17: 37,952,893 (GRCm38)	I44V	probably benign	Het
Otogl	A	G	10: 107,806,576 (GRCm38)	V1331A	probably benign	Het
Palb2	A	G	7: 122,124,392 (GRCm38)		probably benign	Het
Pcdh20	T	C	14: 88,468,322 (GRCm38)	E514G	possibly damaging	Het
Pclaf	A	G	9: 65,890,448 (GRCm38)	N7S	probably benign	Het
Pdrg1	C	T	2: 153,015,328 (GRCm38)		probably benign	Het
Pik3r6	T	A	11: 68,536,106 (GRCm38)	D464E	probably benign	Het
Pkp3	A	G	7: 141,087,647 (GRCm38)	N454D	probably damaging	Het
Plekha7	C	A	7: 116,135,034 (GRCm38)		probably null	Het
Ppip5k1	A	G	2: 121,337,182 (GRCm38)	V784A	probably benign	Het
Ppp1r36	T	A	12: 76,436,254 (GRCm38)	D205E	possibly damaging	Het
Prss35	A	T	9: 86,755,647 (GRCm38)	T157S	probably benign	Het
Ptprn2	T	C	12: 117,161,709 (GRCm38)	L621P	probably damaging	Het
Rasgrp3	A	G	17: 75,524,177 (GRCm38)	K524R	probably damaging	Het
Rasgrp4	T	A	7: 29,140,263 (GRCm38)	H133Q	probably benign	Het
Reln	A	T	5: 21,929,086 (GRCm38)	Y2615N	probably damaging	Het
Rpf1	T	A	3: 146,512,148 (GRCm38)	T204S	probably benign	Het
Scgb2b3	T	A	7: 31,359,039 (GRCm38)	*113L	probably null	Het
Scn5a	A	C	9: 119,521,177 (GRCm38)	L877R	possibly damaging	Het
Sh3pxd2a	A	T	19: 47,268,382 (GRCm38)	D632E	probably benign	Het
Slc39a10	T	C	1: 46,826,109 (GRCm38)	H522R	probably damaging	Het
Spink2	A	T	5: 77,207,008 (GRCm38)	C19S	probably damaging	Het
Spsb4	A	G	9: 96,996,213 (GRCm38)	L19P	possibly damaging	Het
St7l	T	C	3: 104,870,898 (GRCm38)	V117A	probably damaging	Het
Stac2	C	T	11: 98,042,594 (GRCm38)	S174N	probably damaging	Het
Sult4a1	A	G	15: 84,086,617 (GRCm38)	Y196H	probably benign	Het
Tex2	C	T	11: 106,567,782 (GRCm38)		probably benign	Het
Tprgl	A	T	4: 154,159,405 (GRCm38)	V98D	possibly damaging	Het
Ttn	T	C	2: 76,828,509 (GRCm38)		probably benign	Het
Ttn	G	A	2: 76,718,025 (GRCm38)	H31978Y	probably damaging	Het
Tyk2	C	A	9: 21,120,353 (GRCm38)	R447L	probably damaging	Het
Ucn3	T	C	13: 3,941,634 (GRCm38)	Y6C	possibly damaging	Het
Vmn2r94	G	C	17: 18,244,144 (GRCm38)	A628G	probably damaging	Het
Wdr95	C	A	5: 149,595,287 (GRCm38)	T389K	probably damaging	Het
Wrn	A	T	8: 33,280,766 (GRCm38)		probably null	Het
Xab2	T	A	8: 3,619,068 (GRCm38)		probably null	Het
Zfp458	A	T	13: 67,258,080 (GRCm38)	N95K	possibly damaging	Het
Zfp672	T	C	11: 58,317,312 (GRCm38)	H61R	probably damaging	Het
Zfp942	C	T	17: 21,928,439 (GRCm38)	G403E	possibly damaging	Het

Other mutations in Urb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00715:Urb1	APN	16	90,753,321 (GRCm38)	critical splice donor site	probably null
IGL00915:Urb1	APN	16	90,779,098 (GRCm38)	missense	possibly damaging	0.76
IGL01108:Urb1	APN	16	90,792,814 (GRCm38)	missense	probably damaging	1.00
IGL01122:Urb1	APN	16	90,804,458 (GRCm38)	missense	possibly damaging	0.81
IGL01387:Urb1	APN	16	90,757,761 (GRCm38)	missense	possibly damaging	0.64
IGL01484:Urb1	APN	16	90,777,560 (GRCm38)	missense	probably benign	0.11
IGL01606:Urb1	APN	16	90,760,459 (GRCm38)	missense	probably damaging	1.00
IGL01989:Urb1	APN	16	90,769,586 (GRCm38)	splice site	probably benign
IGL02516:Urb1	APN	16	90,772,695 (GRCm38)	missense	possibly damaging	0.49
IGL03018:Urb1	APN	16	90,788,156 (GRCm38)	missense	probably benign	0.02
IGL03165:Urb1	APN	16	90,780,304 (GRCm38)	missense	probably damaging	1.00
IGL03216:Urb1	APN	16	90,788,114 (GRCm38)	missense	probably benign	0.00
H8562:Urb1	UTSW	16	90,769,469 (GRCm38)	missense	probably benign	0.08
H8786:Urb1	UTSW	16	90,769,469 (GRCm38)	missense	probably benign	0.08
R0064:Urb1	UTSW	16	90,779,140 (GRCm38)	missense	probably benign
R0064:Urb1	UTSW	16	90,779,140 (GRCm38)	missense	probably benign
R0359:Urb1	UTSW	16	90,791,160 (GRCm38)	missense	probably damaging	1.00
R0386:Urb1	UTSW	16	90,796,399 (GRCm38)	missense	probably damaging	1.00
R0508:Urb1	UTSW	16	90,783,262 (GRCm38)	splice site	probably benign
R0517:Urb1	UTSW	16	90,777,422 (GRCm38)	nonsense	probably null
R0704:Urb1	UTSW	16	90,776,207 (GRCm38)	missense	probably benign	0.31
R0755:Urb1	UTSW	16	90,779,138 (GRCm38)	missense	probably benign
R0755:Urb1	UTSW	16	90,774,094 (GRCm38)	missense	probably damaging	1.00
R0783:Urb1	UTSW	16	90,810,297 (GRCm38)	missense	possibly damaging	0.55
R0833:Urb1	UTSW	16	90,795,448 (GRCm38)	missense	possibly damaging	0.89
R0836:Urb1	UTSW	16	90,795,448 (GRCm38)	missense	possibly damaging	0.89
R0970:Urb1	UTSW	16	90,769,447 (GRCm38)	missense	possibly damaging	0.83
R1144:Urb1	UTSW	16	90,776,318 (GRCm38)	splice site	probably null
R1344:Urb1	UTSW	16	90,769,466 (GRCm38)	missense	probably damaging	1.00
R1418:Urb1	UTSW	16	90,769,466 (GRCm38)	missense	probably damaging	1.00
R1453:Urb1	UTSW	16	90,796,492 (GRCm38)	missense	probably damaging	1.00
R1470:Urb1	UTSW	16	90,752,014 (GRCm38)	missense	probably benign	0.34
R1470:Urb1	UTSW	16	90,752,014 (GRCm38)	missense	probably benign	0.34
R1520:Urb1	UTSW	16	90,774,745 (GRCm38)	missense	probably benign	0.00
R1521:Urb1	UTSW	16	90,753,863 (GRCm38)	missense	probably damaging	1.00
R1598:Urb1	UTSW	16	90,777,440 (GRCm38)	missense	possibly damaging	0.93
R1617:Urb1	UTSW	16	90,760,452 (GRCm38)	missense	possibly damaging	0.82
R1625:Urb1	UTSW	16	90,774,048 (GRCm38)	critical splice donor site	probably null
R1640:Urb1	UTSW	16	90,772,626 (GRCm38)	missense	probably benign	0.00
R1672:Urb1	UTSW	16	90,787,397 (GRCm38)	missense	probably damaging	1.00
R1694:Urb1	UTSW	16	90,767,040 (GRCm38)	missense	probably benign
R1856:Urb1	UTSW	16	90,761,695 (GRCm38)	missense	probably benign	0.00
R2001:Urb1	UTSW	16	90,762,344 (GRCm38)	missense	probably benign	0.30
R2196:Urb1	UTSW	16	90,774,256 (GRCm38)	missense	probably benign	0.01
R2850:Urb1	UTSW	16	90,774,256 (GRCm38)	missense	probably benign	0.01
R3009:Urb1	UTSW	16	90,774,798 (GRCm38)	missense	probably benign	0.09
R3104:Urb1	UTSW	16	90,795,443 (GRCm38)	missense	probably damaging	1.00
R3105:Urb1	UTSW	16	90,795,443 (GRCm38)	missense	probably damaging	1.00
R3106:Urb1	UTSW	16	90,795,443 (GRCm38)	missense	probably damaging	1.00
R3160:Urb1	UTSW	16	90,797,903 (GRCm38)	missense	probably damaging	1.00
R3162:Urb1	UTSW	16	90,797,903 (GRCm38)	missense	probably damaging	1.00
R3900:Urb1	UTSW	16	90,783,376 (GRCm38)	missense	possibly damaging	0.86
R4014:Urb1	UTSW	16	90,769,465 (GRCm38)	missense	probably damaging	1.00
R4036:Urb1	UTSW	16	90,788,086 (GRCm38)	missense	probably benign
R4332:Urb1	UTSW	16	90,774,537 (GRCm38)	missense	probably damaging	1.00
R4448:Urb1	UTSW	16	90,769,394 (GRCm38)	missense	possibly damaging	0.71
R4581:Urb1	UTSW	16	90,788,146 (GRCm38)	missense	probably benign	0.04
R4593:Urb1	UTSW	16	90,787,444 (GRCm38)	missense	probably damaging	1.00
R4610:Urb1	UTSW	16	90,776,271 (GRCm38)	missense	probably benign	0.43
R4659:Urb1	UTSW	16	90,776,129 (GRCm38)	missense	probably damaging	0.96
R4672:Urb1	UTSW	16	90,772,634 (GRCm38)	missense	probably benign
R4681:Urb1	UTSW	16	90,804,537 (GRCm38)	missense	probably damaging	0.99
R4771:Urb1	UTSW	16	90,753,518 (GRCm38)	missense	probably benign	0.00
R4790:Urb1	UTSW	16	90,769,555 (GRCm38)	nonsense	probably null
R4798:Urb1	UTSW	16	90,757,827 (GRCm38)	missense	probably benign	0.12
R4809:Urb1	UTSW	16	90,759,842 (GRCm38)	missense	possibly damaging	0.82
R4850:Urb1	UTSW	16	90,795,414 (GRCm38)	nonsense	probably null
R4916:Urb1	UTSW	16	90,783,328 (GRCm38)	missense	probably damaging	1.00
R4969:Urb1	UTSW	16	90,805,411 (GRCm38)	missense	probably damaging	1.00
R5032:Urb1	UTSW	16	90,756,171 (GRCm38)	missense	probably benign	0.00
R5111:Urb1	UTSW	16	90,752,017 (GRCm38)	missense	probably benign	0.00
R5122:Urb1	UTSW	16	90,752,095 (GRCm38)	nonsense	probably null
R5184:Urb1	UTSW	16	90,783,274 (GRCm38)	critical splice donor site	probably null
R5199:Urb1	UTSW	16	90,792,748 (GRCm38)	missense	possibly damaging	0.95
R5436:Urb1	UTSW	16	90,792,762 (GRCm38)	missense	probably damaging	1.00
R5767:Urb1	UTSW	16	90,776,163 (GRCm38)	missense	probably benign	0.00
R5812:Urb1	UTSW	16	90,804,537 (GRCm38)	missense	probably damaging	0.99
R5872:Urb1	UTSW	16	90,772,764 (GRCm38)	nonsense	probably null
R6052:Urb1	UTSW	16	90,762,383 (GRCm38)	missense	probably damaging	1.00
R6063:Urb1	UTSW	16	90,789,097 (GRCm38)	missense	probably benign	0.02
R6065:Urb1	UTSW	16	90,803,332 (GRCm38)	missense	probably benign	0.03
R6181:Urb1	UTSW	16	90,779,094 (GRCm38)	missense	probably benign	0.00
R6268:Urb1	UTSW	16	90,753,919 (GRCm38)	missense	probably benign	0.03
R6429:Urb1	UTSW	16	90,762,430 (GRCm38)	splice site	probably null
R6572:Urb1	UTSW	16	90,787,414 (GRCm38)	missense	probably benign	0.37
R6606:Urb1	UTSW	16	90,810,268 (GRCm38)	missense	probably benign	0.00
R6730:Urb1	UTSW	16	90,779,083 (GRCm38)	missense	possibly damaging	0.89
R6838:Urb1	UTSW	16	90,782,106 (GRCm38)	missense	possibly damaging	0.93
R7237:Urb1	UTSW	16	90,791,166 (GRCm38)	missense	probably damaging	1.00
R7238:Urb1	UTSW	16	90,752,115 (GRCm38)	missense	possibly damaging	0.88
R7339:Urb1	UTSW	16	90,772,573 (GRCm38)	critical splice donor site	probably benign
R7341:Urb1	UTSW	16	90,772,573 (GRCm38)	critical splice donor site	probably benign
R7361:Urb1	UTSW	16	90,774,768 (GRCm38)	missense	probably damaging	0.99
R7365:Urb1	UTSW	16	90,772,573 (GRCm38)	critical splice donor site	probably benign
R7366:Urb1	UTSW	16	90,772,573 (GRCm38)	critical splice donor site	probably benign
R7440:Urb1	UTSW	16	90,787,408 (GRCm38)	missense	probably damaging	1.00
R7530:Urb1	UTSW	16	90,761,634 (GRCm38)	missense	probably damaging	1.00
R7553:Urb1	UTSW	16	90,792,864 (GRCm38)	missense	probably damaging	1.00
R7557:Urb1	UTSW	16	90,772,573 (GRCm38)	critical splice donor site	probably benign
R7603:Urb1	UTSW	16	90,772,573 (GRCm38)	critical splice donor site	probably benign
R7607:Urb1	UTSW	16	90,772,573 (GRCm38)	critical splice donor site	probably benign
R7609:Urb1	UTSW	16	90,772,573 (GRCm38)	critical splice donor site	probably benign
R7610:Urb1	UTSW	16	90,772,573 (GRCm38)	critical splice donor site	probably benign
R7612:Urb1	UTSW	16	90,797,910 (GRCm38)	missense	probably damaging	1.00
R7613:Urb1	UTSW	16	90,772,573 (GRCm38)	critical splice donor site	probably benign
R7684:Urb1	UTSW	16	90,786,118 (GRCm38)	nonsense	probably null
R8029:Urb1	UTSW	16	90,779,152 (GRCm38)	missense	possibly damaging	0.67
R8324:Urb1	UTSW	16	90,791,190 (GRCm38)	missense	probably damaging	1.00
R8680:Urb1	UTSW	16	90,774,625 (GRCm38)	missense	probably benign	0.00
R8785:Urb1	UTSW	16	90,803,423 (GRCm38)	missense	probably benign	0.07
R8914:Urb1	UTSW	16	90,810,234 (GRCm38)	missense	probably damaging	1.00
R8959:Urb1	UTSW	16	90,774,117 (GRCm38)	missense	probably benign	0.26
R9005:Urb1	UTSW	16	90,753,790 (GRCm38)	missense	probably benign	0.01
R9126:Urb1	UTSW	16	90,769,402 (GRCm38)	missense	possibly damaging	0.53
R9195:Urb1	UTSW	16	90,792,750 (GRCm38)	missense	probably benign	0.03
R9276:Urb1	UTSW	16	90,772,575 (GRCm38)	splice site	probably benign
R9534:Urb1	UTSW	16	90,786,208 (GRCm38)	missense	possibly damaging	0.54
Z1177:Urb1	UTSW	16	90,774,862 (GRCm38)	missense	probably benign	0.05
Z1177:Urb1	UTSW	16	90,753,883 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGGCGGTCAAATCTTCAGAGAGAC -3'
(R):5'- ACACTGCAAGCTTCCAGGGATG -3'

Sequencing Primer
(F):5'- TCTTCAGAGAGACATGGTGC -3'
(R):5'- ATGTCTTGCCATGTTTCAGATGAC -3'

Posted On

2014-05-09