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

5730405K23Rik, 4921511H13Rik

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

90548415-90607301 bp(-) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

CACTTAC to CAC at 90569461 bp (GRCm39)

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: 70,128,383 (GRCm39)	H30Q	probably damaging	Het
A930009A15Rik	G	A	10: 115,417,894 (GRCm39)		probably null	Het
Abca7	T	C	10: 79,847,667 (GRCm39)	L1779P	probably damaging	Het
Aff1	G	A	5: 103,997,325 (GRCm39)	V1140I	possibly damaging	Het
Ano2	C	T	6: 125,689,382 (GRCm39)	A169V	probably damaging	Het
Atat1	T	C	17: 36,219,999 (GRCm39)	Y101C	possibly damaging	Het
Atp6v1c1	T	C	15: 38,683,255 (GRCm39)		probably null	Het
Atp7b	T	G	8: 22,501,522 (GRCm39)	K912T	probably damaging	Het
Ceacam14	T	C	7: 17,548,246 (GRCm39)	V112A	possibly damaging	Het
Cfap107	T	A	4: 144,146,332 (GRCm39)	H107L	probably damaging	Het
Cobll1	T	C	2: 64,926,201 (GRCm39)	N1119S	probably benign	Het
Csmd1	G	T	8: 15,968,331 (GRCm39)	Q3099K	possibly damaging	Het
Cyp3a25	A	G	5: 145,921,791 (GRCm39)	V381A	possibly damaging	Het
Dctn1	C	T	6: 83,172,051 (GRCm39)	R948*	probably null	Het
Dhrs3	A	G	4: 144,650,510 (GRCm39)	T219A	probably benign	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Esrp1	A	G	4: 11,384,449 (GRCm39)	V78A	probably damaging	Het
Evc2	A	G	5: 37,544,200 (GRCm39)	T650A	possibly damaging	Het
Exoc6b	T	A	6: 84,966,391 (GRCm39)	K194N	possibly damaging	Het
Fer1l6	G	A	15: 58,534,581 (GRCm39)	W1809*	probably null	Het
Frmd4a	T	A	2: 4,596,747 (GRCm39)	L156*	probably null	Het
Gk5	A	T	9: 96,035,263 (GRCm39)		probably null	Het
Gm3573	A	G	14: 42,011,707 (GRCm39)	F8L	probably benign	Het
Gm9767	G	A	10: 25,954,838 (GRCm39)	C130Y	unknown	Het
Grip2	T	C	6: 91,765,393 (GRCm39)	T30A	probably benign	Het
Gskip	C	A	12: 105,665,156 (GRCm39)	A65E	possibly damaging	Het
Gtf2e2	A	G	8: 34,266,493 (GRCm39)	R259G	probably benign	Het
Gucy1b2	T	A	14: 62,656,626 (GRCm39)	I244F	probably damaging	Het
Gxylt2	G	T	6: 100,775,151 (GRCm39)	V357L	possibly damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Igdcc4	C	T	9: 65,041,040 (GRCm39)	P1024S	possibly damaging	Het
Ino80	A	T	2: 119,212,750 (GRCm39)		probably null	Het
Knl1	T	C	2: 118,925,614 (GRCm39)	F1881S	possibly damaging	Het
Mbd6	T	C	10: 127,121,099 (GRCm39)	E518G	unknown	Het
Mlh1	A	G	9: 111,058,958 (GRCm39)	S689P	probably damaging	Het
Mmrn2	T	C	14: 34,120,897 (GRCm39)	I589T	possibly damaging	Het
Mtmr12	C	T	15: 12,257,794 (GRCm39)	Q291*	probably null	Het
Mup8	T	A	4: 60,222,035 (GRCm39)	I33F	probably benign	Het
Mylk	C	T	16: 34,715,184 (GRCm39)	P504L	probably benign	Het
Ntrk3	C	T	7: 77,900,621 (GRCm39)	A573T	probably benign	Het
Obscn	G	T	11: 58,889,091 (GRCm39)	S7560R	unknown	Het
Or1m1	A	G	9: 18,666,178 (GRCm39)	F251S	possibly damaging	Het
Or52z12	A	C	7: 103,234,137 (GRCm39)	T303P	probably damaging	Het
Pde1c	T	C	6: 56,127,613 (GRCm39)	T391A	probably damaging	Het
Pla2g4d	T	A	2: 120,119,457 (GRCm39)	H19L	probably benign	Het
Plce1	C	A	19: 38,513,196 (GRCm39)	A165E	probably benign	Het
Polr1a	T	C	6: 71,890,005 (GRCm39)	S75P	probably benign	Het
Psg21	T	C	7: 18,388,708 (GRCm39)	E128G	probably benign	Het
Radil	A	G	5: 142,492,368 (GRCm39)	I420T	probably damaging	Het
Radil	A	T	5: 142,480,550 (GRCm39)	M635K	probably damaging	Het
Rnase11	G	A	14: 51,287,029 (GRCm39)	T175I	probably damaging	Het
Robo1	C	T	16: 72,360,626 (GRCm39)	P13S		Het
Slc18a2	C	A	19: 59,272,790 (GRCm39)	A364D	probably benign	Het
Snph	C	T	2: 151,436,506 (GRCm39)	D141N	probably damaging	Het
Snrnp70	T	C	7: 45,041,688 (GRCm39)	K70R	possibly damaging	Het
Snx33	T	C	9: 56,833,997 (GRCm39)	D24G	probably benign	Het
Spag6	T	A	2: 18,736,773 (GRCm39)	D165E	possibly damaging	Het
Spata31	T	G	13: 65,069,406 (GRCm39)	L518R	probably damaging	Het
Spata31e3	T	C	13: 50,404,296 (GRCm39)	E2G	possibly damaging	Het
Sspo	G	A	6: 48,466,661 (GRCm39)	V4059M	probably damaging	Het
St6galnac2	T	C	11: 116,570,805 (GRCm39)	Y261C	probably damaging	Het
Stoml1	A	G	9: 58,163,941 (GRCm39)	R87G	probably damaging	Het
Suv39h2	T	C	2: 3,475,866 (GRCm39)	T40A	unknown	Het
Terb2	G	T	2: 122,016,956 (GRCm39)	G26W	probably damaging	Het
Tmem62	T	C	2: 120,826,921 (GRCm39)	I406T	probably benign	Het
Tnfrsf11a	G	A	1: 105,772,458 (GRCm39)	V582I	probably benign	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Unc13c	T	C	9: 73,576,817 (GRCm39)	D1480G	probably damaging	Het
Vmn1r48	C	A	6: 90,012,962 (GRCm39)	V288L	probably benign	Het
Vmn2r13	A	G	5: 109,321,506 (GRCm39)	V397A	probably damaging	Het
Vmn2r98	A	G	17: 19,287,570 (GRCm39)	N468D	possibly damaging	Het
Zfhx2	G	T	14: 55,303,688 (GRCm39)	T1432K	possibly damaging	Het
Zswim5	T	A	4: 116,843,939 (GRCm39)	D992E	possibly damaging	Het

Other mutations in Urb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00715:Urb1	APN	16	90,550,209 (GRCm39)	critical splice donor site	probably null
IGL00915:Urb1	APN	16	90,575,986 (GRCm39)	missense	possibly damaging	0.76
IGL01108:Urb1	APN	16	90,589,702 (GRCm39)	missense	probably damaging	1.00
IGL01122:Urb1	APN	16	90,601,346 (GRCm39)	missense	possibly damaging	0.81
IGL01387:Urb1	APN	16	90,554,649 (GRCm39)	missense	possibly damaging	0.64
IGL01484:Urb1	APN	16	90,574,448 (GRCm39)	missense	probably benign	0.11
IGL01606:Urb1	APN	16	90,557,347 (GRCm39)	missense	probably damaging	1.00
IGL01989:Urb1	APN	16	90,566,474 (GRCm39)	splice site	probably benign
IGL02516:Urb1	APN	16	90,569,583 (GRCm39)	missense	possibly damaging	0.49
IGL03018:Urb1	APN	16	90,585,044 (GRCm39)	missense	probably benign	0.02
IGL03165:Urb1	APN	16	90,577,192 (GRCm39)	missense	probably damaging	1.00
IGL03216:Urb1	APN	16	90,585,002 (GRCm39)	missense	probably benign	0.00
H8562:Urb1	UTSW	16	90,566,357 (GRCm39)	missense	probably benign	0.08
H8786:Urb1	UTSW	16	90,566,357 (GRCm39)	missense	probably benign	0.08
R0064:Urb1	UTSW	16	90,576,028 (GRCm39)	missense	probably benign
R0064:Urb1	UTSW	16	90,576,028 (GRCm39)	missense	probably benign
R0359:Urb1	UTSW	16	90,588,048 (GRCm39)	missense	probably damaging	1.00
R0386:Urb1	UTSW	16	90,593,287 (GRCm39)	missense	probably damaging	1.00
R0508:Urb1	UTSW	16	90,580,150 (GRCm39)	splice site	probably benign
R0517:Urb1	UTSW	16	90,574,310 (GRCm39)	nonsense	probably null
R0704:Urb1	UTSW	16	90,573,095 (GRCm39)	missense	probably benign	0.31
R0755:Urb1	UTSW	16	90,576,026 (GRCm39)	missense	probably benign
R0755:Urb1	UTSW	16	90,570,982 (GRCm39)	missense	probably damaging	1.00
R0783:Urb1	UTSW	16	90,607,185 (GRCm39)	missense	possibly damaging	0.55
R0833:Urb1	UTSW	16	90,592,336 (GRCm39)	missense	possibly damaging	0.89
R0836:Urb1	UTSW	16	90,592,336 (GRCm39)	missense	possibly damaging	0.89
R0970:Urb1	UTSW	16	90,566,335 (GRCm39)	missense	possibly damaging	0.83
R1144:Urb1	UTSW	16	90,573,206 (GRCm39)	splice site	probably null
R1344:Urb1	UTSW	16	90,566,354 (GRCm39)	missense	probably damaging	1.00
R1418:Urb1	UTSW	16	90,566,354 (GRCm39)	missense	probably damaging	1.00
R1453:Urb1	UTSW	16	90,593,380 (GRCm39)	missense	probably damaging	1.00
R1470:Urb1	UTSW	16	90,548,902 (GRCm39)	missense	probably benign	0.34
R1470:Urb1	UTSW	16	90,548,902 (GRCm39)	missense	probably benign	0.34
R1520:Urb1	UTSW	16	90,571,633 (GRCm39)	missense	probably benign	0.00
R1521:Urb1	UTSW	16	90,550,751 (GRCm39)	missense	probably damaging	1.00
R1598:Urb1	UTSW	16	90,574,328 (GRCm39)	missense	possibly damaging	0.93
R1617:Urb1	UTSW	16	90,557,340 (GRCm39)	missense	possibly damaging	0.82
R1625:Urb1	UTSW	16	90,570,936 (GRCm39)	critical splice donor site	probably null
R1640:Urb1	UTSW	16	90,569,514 (GRCm39)	missense	probably benign	0.00
R1664:Urb1	UTSW	16	90,584,970 (GRCm39)	critical splice donor site	probably null
R1672:Urb1	UTSW	16	90,584,285 (GRCm39)	missense	probably damaging	1.00
R1694:Urb1	UTSW	16	90,563,928 (GRCm39)	missense	probably benign
R1856:Urb1	UTSW	16	90,558,583 (GRCm39)	missense	probably benign	0.00
R2001:Urb1	UTSW	16	90,559,232 (GRCm39)	missense	probably benign	0.30
R2196:Urb1	UTSW	16	90,571,144 (GRCm39)	missense	probably benign	0.01
R2850:Urb1	UTSW	16	90,571,144 (GRCm39)	missense	probably benign	0.01
R3009:Urb1	UTSW	16	90,571,686 (GRCm39)	missense	probably benign	0.09
R3104:Urb1	UTSW	16	90,592,331 (GRCm39)	missense	probably damaging	1.00
R3105:Urb1	UTSW	16	90,592,331 (GRCm39)	missense	probably damaging	1.00
R3106:Urb1	UTSW	16	90,592,331 (GRCm39)	missense	probably damaging	1.00
R3160:Urb1	UTSW	16	90,594,791 (GRCm39)	missense	probably damaging	1.00
R3162:Urb1	UTSW	16	90,594,791 (GRCm39)	missense	probably damaging	1.00
R3900:Urb1	UTSW	16	90,580,264 (GRCm39)	missense	possibly damaging	0.86
R4014:Urb1	UTSW	16	90,566,353 (GRCm39)	missense	probably damaging	1.00
R4036:Urb1	UTSW	16	90,584,974 (GRCm39)	missense	probably benign
R4332:Urb1	UTSW	16	90,571,425 (GRCm39)	missense	probably damaging	1.00
R4448:Urb1	UTSW	16	90,566,282 (GRCm39)	missense	possibly damaging	0.71
R4581:Urb1	UTSW	16	90,585,034 (GRCm39)	missense	probably benign	0.04
R4593:Urb1	UTSW	16	90,584,332 (GRCm39)	missense	probably damaging	1.00
R4610:Urb1	UTSW	16	90,573,159 (GRCm39)	missense	probably benign	0.43
R4659:Urb1	UTSW	16	90,573,017 (GRCm39)	missense	probably damaging	0.96
R4672:Urb1	UTSW	16	90,569,522 (GRCm39)	missense	probably benign
R4681:Urb1	UTSW	16	90,601,425 (GRCm39)	missense	probably damaging	0.99
R4771:Urb1	UTSW	16	90,550,406 (GRCm39)	missense	probably benign	0.00
R4790:Urb1	UTSW	16	90,566,443 (GRCm39)	nonsense	probably null
R4798:Urb1	UTSW	16	90,554,715 (GRCm39)	missense	probably benign	0.12
R4809:Urb1	UTSW	16	90,556,730 (GRCm39)	missense	possibly damaging	0.82
R4850:Urb1	UTSW	16	90,592,302 (GRCm39)	nonsense	probably null
R4916:Urb1	UTSW	16	90,580,216 (GRCm39)	missense	probably damaging	1.00
R4969:Urb1	UTSW	16	90,602,299 (GRCm39)	missense	probably damaging	1.00
R5032:Urb1	UTSW	16	90,553,059 (GRCm39)	missense	probably benign	0.00
R5111:Urb1	UTSW	16	90,548,905 (GRCm39)	missense	probably benign	0.00
R5122:Urb1	UTSW	16	90,548,983 (GRCm39)	nonsense	probably null
R5184:Urb1	UTSW	16	90,580,162 (GRCm39)	critical splice donor site	probably null
R5199:Urb1	UTSW	16	90,589,636 (GRCm39)	missense	possibly damaging	0.95
R5436:Urb1	UTSW	16	90,589,650 (GRCm39)	missense	probably damaging	1.00
R5767:Urb1	UTSW	16	90,573,051 (GRCm39)	missense	probably benign	0.00
R5812:Urb1	UTSW	16	90,601,425 (GRCm39)	missense	probably damaging	0.99
R5872:Urb1	UTSW	16	90,569,652 (GRCm39)	nonsense	probably null
R6052:Urb1	UTSW	16	90,559,271 (GRCm39)	missense	probably damaging	1.00
R6063:Urb1	UTSW	16	90,585,985 (GRCm39)	missense	probably benign	0.02
R6065:Urb1	UTSW	16	90,600,220 (GRCm39)	missense	probably benign	0.03
R6181:Urb1	UTSW	16	90,575,982 (GRCm39)	missense	probably benign	0.00
R6268:Urb1	UTSW	16	90,550,807 (GRCm39)	missense	probably benign	0.03
R6429:Urb1	UTSW	16	90,559,318 (GRCm39)	splice site	probably null
R6572:Urb1	UTSW	16	90,584,302 (GRCm39)	missense	probably benign	0.37
R6606:Urb1	UTSW	16	90,607,156 (GRCm39)	missense	probably benign	0.00
R6730:Urb1	UTSW	16	90,575,971 (GRCm39)	missense	possibly damaging	0.89
R6838:Urb1	UTSW	16	90,578,994 (GRCm39)	missense	possibly damaging	0.93
R7237:Urb1	UTSW	16	90,588,054 (GRCm39)	missense	probably damaging	1.00
R7238:Urb1	UTSW	16	90,549,003 (GRCm39)	missense	possibly damaging	0.88
R7339:Urb1	UTSW	16	90,569,461 (GRCm39)	critical splice donor site	probably benign
R7341:Urb1	UTSW	16	90,569,461 (GRCm39)	critical splice donor site	probably benign
R7361:Urb1	UTSW	16	90,571,656 (GRCm39)	missense	probably damaging	0.99
R7365:Urb1	UTSW	16	90,569,461 (GRCm39)	critical splice donor site	probably benign
R7366:Urb1	UTSW	16	90,569,461 (GRCm39)	critical splice donor site	probably benign
R7440:Urb1	UTSW	16	90,584,296 (GRCm39)	missense	probably damaging	1.00
R7530:Urb1	UTSW	16	90,558,522 (GRCm39)	missense	probably damaging	1.00
R7553:Urb1	UTSW	16	90,589,752 (GRCm39)	missense	probably damaging	1.00
R7557:Urb1	UTSW	16	90,569,461 (GRCm39)	critical splice donor site	probably benign
R7603:Urb1	UTSW	16	90,569,461 (GRCm39)	critical splice donor site	probably benign
R7609:Urb1	UTSW	16	90,569,461 (GRCm39)	critical splice donor site	probably benign
R7610:Urb1	UTSW	16	90,569,461 (GRCm39)	critical splice donor site	probably benign
R7612:Urb1	UTSW	16	90,594,798 (GRCm39)	missense	probably damaging	1.00
R7613:Urb1	UTSW	16	90,569,461 (GRCm39)	critical splice donor site	probably benign
R7684:Urb1	UTSW	16	90,583,006 (GRCm39)	nonsense	probably null
R8029:Urb1	UTSW	16	90,576,040 (GRCm39)	missense	possibly damaging	0.67
R8324:Urb1	UTSW	16	90,588,078 (GRCm39)	missense	probably damaging	1.00
R8680:Urb1	UTSW	16	90,571,513 (GRCm39)	missense	probably benign	0.00
R8785:Urb1	UTSW	16	90,600,311 (GRCm39)	missense	probably benign	0.07
R8914:Urb1	UTSW	16	90,607,122 (GRCm39)	missense	probably damaging	1.00
R8959:Urb1	UTSW	16	90,571,005 (GRCm39)	missense	probably benign	0.26
R9005:Urb1	UTSW	16	90,550,678 (GRCm39)	missense	probably benign	0.01
R9126:Urb1	UTSW	16	90,566,290 (GRCm39)	missense	possibly damaging	0.53
R9195:Urb1	UTSW	16	90,589,638 (GRCm39)	missense	probably benign	0.03
R9276:Urb1	UTSW	16	90,569,463 (GRCm39)	splice site	probably benign
R9534:Urb1	UTSW	16	90,583,096 (GRCm39)	missense	possibly damaging	0.54
Z1177:Urb1	UTSW	16	90,571,750 (GRCm39)	missense	probably benign	0.05
Z1177:Urb1	UTSW	16	90,550,771 (GRCm39)	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