Mutagenetix > Incidental Mutation

Incidental Mutation 'R6063:Urb1'

483944

Institutional Source

Beutler Lab

Gene Symbol

Urb1

Ensembl Gene

ENSMUSG00000039929

Gene Name

URB1 ribosome biogenesis 1 homolog (S. cerevisiae)

Synonyms

5730405K23Rik, 4921511H13Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6063 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90548415-90607301 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90585985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 452 (I452M)

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
AA Change: I452M

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000114717
Gene: ENSMUSG00000039929
AA Change: I452M

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	A	17: 24,483,318 (GRCm39)	R1713C	unknown	Het
Ano6	C	T	15: 95,846,298 (GRCm39)	T512I	probably damaging	Het
Ap3s1	T	C	18: 46,887,505 (GRCm39)	V46A	probably benign	Het
Art2a	C	A	7: 101,204,413 (GRCm39)	V42F	probably damaging	Het
Asph	C	T	4: 9,531,960 (GRCm39)	V386M	probably benign	Het
B4galnt4	T	A	7: 140,644,643 (GRCm39)	D179E	probably benign	Het
Bbx	T	C	16: 50,071,730 (GRCm39)	I232V	probably benign	Het
C1ql2	A	G	1: 120,269,321 (GRCm39)	I159V	probably benign	Het
Ccar1	A	G	10: 62,612,496 (GRCm39)	V223A	possibly damaging	Het
Cd2ap	A	T	17: 43,136,802 (GRCm39)	L277I	probably benign	Het
Cfap44	G	A	16: 44,250,255 (GRCm39)	E778K	probably benign	Het
Chd3	A	T	11: 69,240,063 (GRCm39)	D1626E	probably benign	Het
Crocc	C	T	4: 140,769,032 (GRCm39)	G505S	probably benign	Het
Crocc	T	A	4: 140,773,851 (GRCm39)	Q72L	probably damaging	Het
Drosha	T	C	15: 12,834,156 (GRCm39)		probably benign	Het
Eps8l1	T	A	7: 4,474,296 (GRCm39)	S256T	possibly damaging	Het
F830045P16Rik	A	G	2: 129,316,310 (GRCm39)	V133A	probably damaging	Het
Fermt2	A	T	14: 45,697,338 (GRCm39)	M671K	possibly damaging	Het
Fhdc1	G	A	3: 84,353,336 (GRCm39)	L630F	probably benign	Het
Gon4l	T	C	3: 88,807,306 (GRCm39)	S1667P	probably damaging	Het
Greb1l	A	C	18: 10,557,340 (GRCm39)	K1780T	probably damaging	Het
H2-Q10	C	T	17: 35,781,026 (GRCm39)	T8M	probably benign	Het
Hmcn2	A	T	2: 31,324,725 (GRCm39)	T4215S	probably benign	Het
I0C0044D17Rik	G	A	4: 98,708,576 (GRCm39)		probably benign	Het
Ifi204	A	G	1: 173,579,223 (GRCm39)	F541L	probably benign	Het
Igkv6-17	C	T	6: 70,348,764 (GRCm39)	A45V	probably damaging	Het
Intu	G	A	3: 40,608,524 (GRCm39)	A161T	probably damaging	Het
Kcnmb2	A	G	3: 32,233,141 (GRCm39)	Y73C	probably damaging	Het
Lrit1	T	C	14: 36,776,945 (GRCm39)	F22L	probably benign	Het
Lrp1b	A	T	2: 41,174,156 (GRCm39)	C699*	probably null	Het
Lrrc8d	A	G	5: 105,959,992 (GRCm39)	D134G	probably benign	Het
Map1b	T	C	13: 99,567,645 (GRCm39)	D1692G	unknown	Het
Met	C	T	6: 17,491,967 (GRCm39)	S243F	probably damaging	Het
Mlph	C	A	1: 90,855,882 (GRCm39)	H96Q	probably damaging	Het
Mycbp2	A	T	14: 103,372,582 (GRCm39)	V4088D	probably damaging	Het
Nampt	T	A	12: 32,898,658 (GRCm39)	S425T	probably damaging	Het
Nts	G	A	10: 102,320,856 (GRCm39)	H78Y	probably benign	Het
Nxf1	A	G	19: 8,745,151 (GRCm39)	E467G	possibly damaging	Het
Olfml2a	C	A	2: 38,841,155 (GRCm39)	D230E	probably benign	Het
Or4b13	C	A	2: 90,082,771 (GRCm39)	C187F	probably benign	Het
Or52n2c	C	T	7: 104,574,599 (GRCm39)	R124H	probably benign	Het
Pcsk5	A	G	19: 17,432,045 (GRCm39)		probably null	Het
Pde5a	C	A	3: 122,618,574 (GRCm39)	T629K	probably benign	Het
Plcb3	G	T	19: 6,940,202 (GRCm39)	R462S	possibly damaging	Het
Pnpla6	T	A	8: 3,574,156 (GRCm39)	M469K	probably benign	Het
Pram1	A	T	17: 33,860,386 (GRCm39)	K318*	probably null	Het
Prkd1	T	C	12: 50,388,826 (GRCm39)	R906G	probably benign	Het
Ptprh	T	A	7: 4,576,361 (GRCm39)	T300S	possibly damaging	Het
Rdh16f2	A	G	10: 127,712,743 (GRCm39)	Y247C	probably benign	Het
Rimbp3	A	G	16: 17,028,781 (GRCm39)	E735G	probably damaging	Het
Sall3	G	A	18: 81,017,470 (GRCm39)	P153S	possibly damaging	Het
Samd4b	T	A	7: 28,123,056 (GRCm39)	M1L	possibly damaging	Het
Septin12	T	C	16: 4,810,127 (GRCm39)	E136G	probably damaging	Het
Shpk	A	T	11: 73,104,270 (GRCm39)	K140*	probably null	Het
Sidt1	G	T	16: 44,079,829 (GRCm39)	F608L	probably benign	Het
Skint5	A	G	4: 113,347,842 (GRCm39)	Y1300H	probably benign	Het
Slc22a28	G	A	19: 8,094,386 (GRCm39)	P212S	probably benign	Het
Slc22a5	A	T	11: 53,758,359 (GRCm39)	F480L	possibly damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc3a1	C	T	17: 85,335,951 (GRCm39)	P31L	probably benign	Het
Slc4a7	T	C	14: 14,793,964 (GRCm38)	V1074A	possibly damaging	Het
Snx2	C	T	18: 53,342,697 (GRCm39)	Q254*	probably null	Het
Sox30	G	A	11: 45,882,769 (GRCm39)	V600I	probably benign	Het
Svil	T	G	18: 5,106,724 (GRCm39)	V1855G	probably damaging	Het
Tdpoz9	A	G	3: 93,957,408 (GRCm39)	F7L	probably benign	Het
Tdrd7	A	G	4: 46,005,486 (GRCm39)	T431A	probably benign	Het
Tenm2	A	T	11: 36,054,544 (GRCm39)		probably null	Het
Tigar	A	G	6: 127,068,164 (GRCm39)	S85P	probably benign	Het
Tnr	A	C	1: 159,740,254 (GRCm39)	M1143L	probably benign	Het
Trio	G	T	15: 27,891,465 (GRCm39)	Q429K	possibly damaging	Het
Uroc1	A	T	6: 90,324,910 (GRCm39)	E461V	probably benign	Het
Vax1	C	A	19: 59,157,036 (GRCm39)	R99L	unknown	Het
Xab2	A	T	8: 3,663,051 (GRCm39)	I510N	possibly damaging	Het
Zbtb34	A	T	2: 33,301,842 (GRCm39)	I233K	possibly damaging	Het
Zbtb47	A	G	9: 121,592,598 (GRCm39)	E306G	probably benign	Het
Zfp27	A	G	7: 29,593,727 (GRCm39)	F746S	probably damaging	Het
Zfp719	C	T	7: 43,239,050 (GRCm39)	Q213*	probably null	Het
Zswim6	T	C	13: 107,865,112 (GRCm39)		noncoding transcript	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
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

Posted On

2017-07-14