Mutagenetix > Incidental Mutation

Incidental Mutation 'R2850:Urb1'

252132

Institutional Source

Beutler Lab

Gene Symbol

Urb1

Ensembl Gene

ENSMUSG00000039929

Gene Name

URB1 ribosome biogenesis 1 homolog (S. cerevisiae)

Synonyms

5730405K23Rik, 4921511H13Rik

MMRRC Submission

040443-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2850 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90548415-90607301 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90571144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1222 (Y1222H)

Ref Sequence

ENSEMBL: ENSMUSP00000114717 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140158

Predicted Effect

probably benign
Transcript: ENSMUST00000140920
AA Change: Y1222H

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000114717
Gene: ENSMUSG00000039929
AA Change: Y1222H

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

Meta Mutation Damage Score

0.0602

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	T	A	13: 12,290,065 (GRCm39)	T734S	probably damaging	Het
Ago1	T	C	4: 126,336,868 (GRCm39)		probably benign	Het
Ahi1	C	T	10: 20,876,492 (GRCm39)	T801I	probably benign	Het
Alms1	T	C	6: 85,598,281 (GRCm39)	S1505P	probably benign	Het
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Anxa6	T	A	11: 54,901,852 (GRCm39)	Y95F	possibly damaging	Het
Cacna1b	C	T	2: 24,651,800 (GRCm39)	M126I	probably damaging	Het
Clk1	A	G	1: 58,451,438 (GRCm39)	L457S	probably damaging	Het
Cngb3	T	C	4: 19,415,690 (GRCm39)	I400T	possibly damaging	Het
Cntnap5c	T	A	17: 58,717,343 (GRCm39)		probably benign	Het
Corin	A	G	5: 72,462,298 (GRCm39)	V837A	probably damaging	Het
Ctr9	C	T	7: 110,652,653 (GRCm39)	R984C	unknown	Het
Cubn	G	A	2: 13,327,764 (GRCm39)	T2687I	probably damaging	Het
Cypt3	T	A	X: 152,342,274 (GRCm39)	N168K	probably damaging	Het
E330020D12Rik	A	G	1: 153,282,336 (GRCm39)		noncoding transcript	Het
Fbxl4	T	C	4: 22,403,624 (GRCm39)	M399T	probably benign	Het
Fbxo22	T	C	9: 55,130,699 (GRCm39)	F323L	probably damaging	Het
Fnip1	A	T	11: 54,393,503 (GRCm39)	E646D	probably benign	Het
Gid4	G	A	11: 60,329,400 (GRCm39)		probably null	Het
Gnb5	A	T	9: 75,234,511 (GRCm39)	D70V	probably damaging	Het
Gpank1	A	G	17: 35,343,557 (GRCm39)	S346G	probably benign	Het
Gtf3c6	T	C	10: 40,130,254 (GRCm39)		probably benign	Het
Hdx	T	C	X: 110,502,720 (GRCm39)	I562V	probably benign	Het
Ifrd2	T	C	9: 107,468,908 (GRCm39)		probably benign	Het
Itch	A	C	2: 155,044,141 (GRCm39)	Q482P	probably benign	Het
Kif11	C	A	19: 37,397,941 (GRCm39)	D630E	probably benign	Het
Lpl	G	T	8: 69,352,164 (GRCm39)	E372*	probably null	Het
Mrps26	T	C	2: 130,406,967 (GRCm39)	V198A	probably benign	Het
Mucl1	T	C	15: 103,782,348 (GRCm39)	N201S	possibly damaging	Het
Nedd4	C	T	9: 72,632,356 (GRCm39)	L397F	possibly damaging	Het
Nfat5	A	G	8: 108,020,492 (GRCm39)	D12G	probably damaging	Het
Or5b102	T	C	19: 13,040,934 (GRCm39)	L53P	probably damaging	Het
Pik3r3	A	G	4: 116,127,981 (GRCm39)		probably benign	Het
Pkd1l3	T	A	8: 110,350,622 (GRCm39)	V489E	possibly damaging	Het
Pkhd1	T	C	1: 20,579,300 (GRCm39)	E1802G	possibly damaging	Het
Plb1	T	A	5: 32,450,568 (GRCm39)	S370T	probably benign	Het
Ppat	G	A	5: 77,067,222 (GRCm39)	T337I	probably benign	Het
Prkd3	A	G	17: 79,262,025 (GRCm39)	V763A	possibly damaging	Het
Prr9	A	T	3: 92,030,476 (GRCm39)	S55T	probably benign	Het
Rbpms	G	T	8: 34,324,405 (GRCm39)	N108K	possibly damaging	Het
Rc3h2	A	T	2: 37,267,427 (GRCm39)	D972E	probably benign	Het
Rrbp1	C	T	2: 143,791,269 (GRCm39)	R1378Q	probably benign	Het
Slc26a7	T	A	4: 14,593,806 (GRCm39)		probably benign	Het
Stard6	T	A	18: 70,616,522 (GRCm39)	H60Q	probably benign	Het
Sult6b2	T	C	6: 142,743,613 (GRCm39)	T138A	probably benign	Het
Th	G	A	7: 142,447,812 (GRCm39)	Q329*	probably null	Het
Tmco3	A	G	8: 13,345,024 (GRCm39)	H268R	probably benign	Het
Tnn	T	C	1: 159,966,857 (GRCm39)	D429G	probably benign	Het
Tnrc6a	G	A	7: 122,779,023 (GRCm39)	G1245R	probably damaging	Het
Trem3	C	A	17: 48,556,669 (GRCm39)	L47M	probably benign	Het
Trpm6	T	A	19: 18,769,454 (GRCm39)	C307S	possibly damaging	Het
Ube2j1	T	A	4: 33,049,696 (GRCm39)	N231K	probably benign	Het
Wdr81	A	T	11: 75,341,998 (GRCm39)	S1090T	probably damaging	Het
Ythdf3	T	C	3: 16,257,982 (GRCm39)		probably benign	Het
Zfp280d	A	G	9: 72,219,371 (GRCm39)	T183A	probably benign	Het
Zfp354c	G	A	11: 50,706,158 (GRCm39)	Q306*	probably null	Het
Zp2	T	C	7: 119,737,529 (GRCm39)	H252R	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
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
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'- TGTTGGCCGCATGAAGCTTC -3'
(R):5'- GAAAGACCCTGGTACAACTGCTG -3'

Sequencing Primer
(F):5'- GCATGAAGCTTCCTTGCG -3'
(R):5'- CTGGTACAACTGCTGGCAAG -3'

Posted On

2014-12-04