Mutagenetix > Incidental Mutation

Incidental Mutation 'R7607:Urb1'

588404

Institutional Source

Beutler Lab

Gene Symbol

Urb1

Ensembl Gene

ENSMUSG00000039929

Gene Name

URB1 ribosome biogenesis 1 homolog (S. cerevisiae)

Synonyms

4921511H13Rik, 5730405K23Rik

MMRRC Submission

045677-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7607 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

90751527-90810413 bp(-) (GRCm38)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

CACTTAC to CAC at 90772573 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	A	T	11: 70,237,557 (GRCm38)	H30Q	probably damaging	Het
1700012P22Rik	T	A	4: 144,419,762 (GRCm38)	H107L	probably damaging	Het
A930009A15Rik	G	A	10: 115,581,989 (GRCm38)		probably null	Het
Abca7	T	C	10: 80,011,833 (GRCm38)	L1779P	probably damaging	Het
Aff1	G	A	5: 103,849,459 (GRCm38)	V1140I	possibly damaging	Het
Ano2	C	T	6: 125,712,419 (GRCm38)	A169V	probably damaging	Het
Atat1	T	C	17: 35,909,107 (GRCm38)	Y101C	possibly damaging	Het
Atp6v1c1	T	C	15: 38,683,011 (GRCm38)		probably null	Het
Atp7b	T	G	8: 22,011,506 (GRCm38)	K912T	probably damaging	Het
Ceacam14	T	C	7: 17,814,321 (GRCm38)	V112A	possibly damaging	Het
Cobll1	T	C	2: 65,095,857 (GRCm38)	N1119S	probably benign	Het
Csmd1	G	T	8: 15,918,331 (GRCm38)	Q3099K	possibly damaging	Het
Cyp3a25	A	G	5: 145,984,981 (GRCm38)	V381A	possibly damaging	Het
Dctn1	C	T	6: 83,195,069 (GRCm38)	R948*	probably null	Het
Dhrs3	A	G	4: 144,923,940 (GRCm38)	T219A	probably benign	Het
Epha7	C	T	4: 28,871,937 (GRCm38)	S422L	probably benign	Het
Esrp1	A	G	4: 11,384,449 (GRCm38)	V78A	probably damaging	Het
Evc2	A	G	5: 37,386,856 (GRCm38)	T650A	possibly damaging	Het
Exoc6b	T	A	6: 84,989,409 (GRCm38)	K194N	possibly damaging	Het
Fer1l6	G	A	15: 58,662,732 (GRCm38)	W1809*	probably null	Het
Frmd4a	T	A	2: 4,591,936 (GRCm38)	L156*	probably null	Het
Gk5	A	T	9: 96,153,210 (GRCm38)		probably null	Het
Gm3573	A	G	14: 42,189,750 (GRCm38)	F8L	probably benign	Het
Gm906	T	C	13: 50,250,260 (GRCm38)	E2G	possibly damaging	Het
Gm9767	G	A	10: 26,078,940 (GRCm38)	C130Y	unknown	Het
Grip2	T	C	6: 91,788,412 (GRCm38)	T30A	probably benign	Het
Gskip	C	A	12: 105,698,897 (GRCm38)	A65E	possibly damaging	Het
Gtf2e2	A	G	8: 33,776,465 (GRCm38)	R259G	probably benign	Het
Gucy1b2	T	A	14: 62,419,177 (GRCm38)	I244F	probably damaging	Het
Gxylt2	G	T	6: 100,798,190 (GRCm38)	V357L	possibly damaging	Het
Hivep3	CGG	CG	4: 120,097,911 (GRCm38)	1141	probably null	Het
Igdcc4	C	T	9: 65,133,758 (GRCm38)	P1024S	possibly damaging	Het
Ino80	A	T	2: 119,382,269 (GRCm38)		probably null	Het
Knl1	T	C	2: 119,095,133 (GRCm38)	F1881S	possibly damaging	Het
Mbd6	T	C	10: 127,285,230 (GRCm38)	E518G	unknown	Het
Mlh1	A	G	9: 111,229,890 (GRCm38)	S689P	probably damaging	Het
Mmrn2	T	C	14: 34,398,940 (GRCm38)	I589T	possibly damaging	Het
Mtmr12	C	T	15: 12,257,708 (GRCm38)	Q291*	probably null	Het
Mup8	T	A	4: 60,222,035 (GRCm38)	I33F	probably benign	Het
Mylk	C	T	16: 34,894,814 (GRCm38)	P504L	probably benign	Het
Ntrk3	C	T	7: 78,250,873 (GRCm38)	A573T	probably benign	Het
Obscn	G	T	11: 58,998,265 (GRCm38)	S7560R	unknown	Het
Olfr24	A	G	9: 18,754,882 (GRCm38)	F251S	possibly damaging	Het
Olfr617	A	C	7: 103,584,930 (GRCm38)	T303P	probably damaging	Het
Pde1c	T	C	6: 56,150,628 (GRCm38)	T391A	probably damaging	Het
Pla2g4d	T	A	2: 120,288,976 (GRCm38)	H19L	probably benign	Het
Plce1	C	A	19: 38,524,752 (GRCm38)	A165E	probably benign	Het
Polr1a	T	C	6: 71,913,021 (GRCm38)	S75P	probably benign	Het
Psg21	T	C	7: 18,654,783 (GRCm38)	E128G	probably benign	Het
Radil	A	G	5: 142,506,613 (GRCm38)	I420T	probably damaging	Het
Radil	A	T	5: 142,494,795 (GRCm38)	M635K	probably damaging	Het
Rnase11	G	A	14: 51,049,572 (GRCm38)	T175I	probably damaging	Het
Robo1	C	T	16: 72,563,738 (GRCm38)	P13S		Het
Slc18a2	C	A	19: 59,284,358 (GRCm38)	A364D	probably benign	Het
Snph	C	T	2: 151,594,586 (GRCm38)	D141N	probably damaging	Het
Snrnp70	T	C	7: 45,392,264 (GRCm38)	K70R	possibly damaging	Het
Snx33	T	C	9: 56,926,713 (GRCm38)	D24G	probably benign	Het
Spag6	T	A	2: 18,731,962 (GRCm38)	D165E	possibly damaging	Het
Spata31	T	G	13: 64,921,592 (GRCm38)	L518R	probably damaging	Het
Sspo	G	A	6: 48,489,727 (GRCm38)	V4059M	probably damaging	Het
St6galnac2	T	C	11: 116,679,979 (GRCm38)	Y261C	probably damaging	Het
Stoml1	A	G	9: 58,256,658 (GRCm38)	R87G	probably damaging	Het
Suv39h2	T	C	2: 3,474,829 (GRCm38)	T40A	unknown	Het
Terb2	G	T	2: 122,186,475 (GRCm38)	G26W	probably damaging	Het
Tmem62	T	C	2: 120,996,440 (GRCm38)	I406T	probably benign	Het
Tnfrsf11a	G	A	1: 105,844,732 (GRCm38)	V582I	probably benign	Het
Tpsg1	G	T	17: 25,373,210 (GRCm38)	G86V	probably damaging	Het
Unc13c	T	C	9: 73,669,535 (GRCm38)	D1480G	probably damaging	Het
Vmn1r48	C	A	6: 90,035,980 (GRCm38)	V288L	probably benign	Het
Vmn2r13	A	G	5: 109,173,640 (GRCm38)	V397A	probably damaging	Het
Vmn2r98	A	G	17: 19,067,308 (GRCm38)	N468D	possibly damaging	Het
Zfhx2	G	T	14: 55,066,231 (GRCm38)	T1432K	possibly damaging	Het
Zswim5	T	A	4: 116,986,742 (GRCm38)	D992E	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
R1664:Urb1	UTSW	16	90,788,082 (GRCm38)	critical splice donor site	probably null
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
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'- ACCTGAACACTGTTGATCTGTG -3'
(R):5'- CAGTGTTGTGATCTGCTACCC -3'

Sequencing Primer
(F):5'- AACACTGTTGATCTGTGGGTGG -3'
(R):5'- TTGGACCCTGGCTGACTCTG -3'

Posted On

2019-10-24