Mutagenetix > Incidental Mutation

Incidental Mutation 'R4850:Urb1'

373495

Institutional Source

Beutler Lab

Gene Symbol

Urb1

Ensembl Gene

ENSMUSG00000039929

Gene Name

URB1 ribosome biogenesis 1 homolog (S. cerevisiae)

Synonyms

5730405K23Rik, 4921511H13Rik

MMRRC Submission

042462-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4850 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90548415-90607301 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 90592302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 319 (C319*)

Ref Sequence

ENSEMBL: ENSMUSP00000114717 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000140920
AA Change: C319*

SMART Domains

Protein: ENSMUSP00000114717
Gene: ENSMUSG00000039929
AA Change: C319*

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: ENSMUST00000140942

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142955

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,709,429 (GRCm39)	A42T	probably benign	Het
Acsf3	T	C	8: 123,544,175 (GRCm39)	V551A	probably damaging	Het
Adgrl2	G	A	3: 148,564,656 (GRCm39)	T304I	probably damaging	Het
Akr1d1	A	G	6: 37,531,522 (GRCm39)		probably null	Het
Ankrd17	A	T	5: 90,412,645 (GRCm39)	H1226Q	probably damaging	Het
Arap1	T	C	7: 101,047,998 (GRCm39)	I847T	probably damaging	Het
Atad2b	G	A	12: 4,993,251 (GRCm39)	G257S	probably benign	Het
Cand2	A	T	6: 115,778,909 (GRCm39)	T1158S	probably benign	Het
Cic	G	A	7: 24,972,327 (GRCm39)	R686H	probably damaging	Het
Cldn1	T	A	16: 26,181,913 (GRCm39)	T99S	probably benign	Het
Cnga3	G	T	1: 37,297,087 (GRCm39)	E173*	probably null	Het
Cplane1	T	C	15: 8,292,422 (GRCm39)	S3012P	unknown	Het
Cryge	G	T	1: 65,090,211 (GRCm39)		probably benign	Het
Dsp	T	A	13: 38,376,445 (GRCm39)	L1410H	probably damaging	Het
Dync2h1	T	C	9: 7,134,364 (GRCm39)	T1548A	probably benign	Het
Dysf	C	A	6: 84,074,697 (GRCm39)	D499E	probably damaging	Het
Eml5	T	C	12: 98,756,878 (GRCm39)	D1917G	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fn3krp	A	T	11: 121,315,879 (GRCm39)	H90L	possibly damaging	Het
Garin2	A	G	12: 78,761,927 (GRCm39)	D197G	probably damaging	Het
Gm10718	A	T	9: 3,023,716 (GRCm39)	T56S	probably benign	Het
Gm4847	A	T	1: 166,469,908 (GRCm39)	I55K	probably damaging	Het
Gsn	T	A	2: 35,173,912 (GRCm39)		probably null	Het
H2bc11	G	T	13: 22,227,421 (GRCm39)		probably benign	Het
Haghl	T	C	17: 26,001,980 (GRCm39)		probably benign	Het
Hmg20b	T	A	10: 81,182,761 (GRCm39)	E139V	probably damaging	Het
Hsd3b6	G	A	3: 98,715,221 (GRCm39)	T57I	probably benign	Het
Igkv5-48	A	G	6: 69,703,780 (GRCm39)	S42P	probably damaging	Het
Igsf23	T	C	7: 19,687,859 (GRCm39)		probably benign	Het
Kcnt1	T	C	2: 25,798,112 (GRCm39)	F874L	probably damaging	Het
Maf1	T	C	15: 76,237,162 (GRCm39)	F110L	possibly damaging	Het
Mtpap	C	T	18: 4,387,044 (GRCm39)	R365W	probably damaging	Het
Mtus1	A	C	8: 41,537,507 (GRCm39)	S70A	possibly damaging	Het
Nfatc1	T	A	18: 80,741,080 (GRCm39)	T307S	probably benign	Het
Nphs1	T	G	7: 30,162,657 (GRCm39)	S379A	possibly damaging	Het
Nup205	A	G	6: 35,207,465 (GRCm39)	T1506A	probably benign	Het
Or13f5	T	C	4: 52,825,450 (GRCm39)	S18P	possibly damaging	Het
Or8u9	T	A	2: 86,002,015 (GRCm39)	I49F	probably damaging	Het
Pcdhga8	A	T	18: 37,860,762 (GRCm39)	Y606F	probably damaging	Het
Pde7a	A	G	3: 19,297,281 (GRCm39)	V123A	probably benign	Het
Pex1	C	T	5: 3,674,426 (GRCm39)	T809I	probably benign	Het
Prdm13	C	A	4: 21,678,243 (GRCm39)	R749L	possibly damaging	Het
Prkcd	A	G	14: 30,321,700 (GRCm39)	L498P	probably damaging	Het
Pros1	A	T	16: 62,705,887 (GRCm39)	E67V	probably damaging	Het
Rab44	A	G	17: 29,359,063 (GRCm39)	E417G	possibly damaging	Het
Rangrf	A	G	11: 68,864,466 (GRCm39)		probably null	Het
Rp1	T	A	1: 4,418,898 (GRCm39)	K738M	probably damaging	Het
Ryr2	A	T	13: 11,683,706 (GRCm39)	D3119E	probably damaging	Het
Ryr2	G	A	13: 11,760,638 (GRCm39)	R1482C	probably damaging	Het
Sbspon	T	A	1: 15,929,192 (GRCm39)	T200S	probably damaging	Het
Sfxn5	T	C	6: 85,309,358 (GRCm39)		probably benign	Het
Slc26a8	T	A	17: 28,873,857 (GRCm39)	I377F	probably benign	Het
Slc30a7	A	G	3: 115,786,657 (GRCm39)	F72L	probably damaging	Het
Slc32a1	T	C	2: 158,456,112 (GRCm39)	F256L	possibly damaging	Het
Slco6b1	T	C	1: 96,839,558 (GRCm39)		noncoding transcript	Het
Smpd1	A	G	7: 105,205,192 (GRCm39)	H357R	probably benign	Het
Sncaip	A	T	18: 53,004,456 (GRCm39)	H361L	probably damaging	Het
Tenm2	A	C	11: 35,914,315 (GRCm39)	Y2406*	probably null	Het
Terb1	T	A	8: 105,212,057 (GRCm39)	H308L	probably benign	Het
Trim61	A	T	8: 65,466,070 (GRCm39)	L397H	probably damaging	Het
Trp53bp1	T	A	2: 121,035,594 (GRCm39)		probably null	Het
Ttn	T	G	2: 76,611,899 (GRCm39)	E9007D	possibly damaging	Het
Vmn2r95	T	C	17: 18,671,915 (GRCm39)	Y551H	probably damaging	Het
Vwde	A	T	6: 13,196,047 (GRCm39)	V326D	possibly damaging	Het
Xdh	A	G	17: 74,205,330 (GRCm39)	L1045P	probably damaging	Het
Zfp638	T	C	6: 83,956,457 (GRCm39)	I1688T	possibly damaging	Het
Zwint	T	A	10: 72,491,788 (GRCm39)		probably benign	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
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
R7607: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'- TGTGAGTCTACTGCCTCCAAG -3'
(R):5'- AAGTACATCCCTAGTTGCTATCATC -3'

Sequencing Primer
(F):5'- GGGCACTGATAAATACACACTCTC -3'
(R):5'- ATCATCACGTGATATTGCCCAG -3'

Posted On

2016-03-01