Mutagenetix > Incidental Mutation

Incidental Mutation 'R6052:Urb1'

484193

Institutional Source

Beutler Lab

Gene Symbol

Urb1

Ensembl Gene

ENSMUSG00000039929

Gene Name

URB1 ribosome biogenesis 1 homolog (S. cerevisiae)

Synonyms

5730405K23Rik, 4921511H13Rik

MMRRC Submission

044220-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6052 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90548415-90607301 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 90559271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 1671 (G1671S)

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 damaging
Transcript: ENSMUST00000140920
AA Change: G1671S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114717
Gene: ENSMUSG00000039929
AA Change: G1671S

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

0.4254

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

96% (80/83)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,537,165 (GRCm39)	F473L	probably benign	Het
Ankrd17	T	C	5: 90,401,691 (GRCm39)	I1449V	probably benign	Het
Aox4	T	A	1: 58,293,477 (GRCm39)	L943*	probably null	Het
Arap1	G	A	7: 101,053,240 (GRCm39)	V1257M	probably damaging	Het
B3gnt9	T	C	8: 105,981,230 (GRCm39)	S53G	probably benign	Het
Baiap3	A	T	17: 25,467,444 (GRCm39)		probably benign	Het
Canx	T	C	11: 50,187,946 (GRCm39)	D554G	possibly damaging	Het
Cbfa2t2	T	C	2: 154,352,501 (GRCm39)	V165A	probably damaging	Het
Ccdc17	C	T	4: 116,457,145 (GRCm39)		probably null	Het
Cdcp1	A	G	9: 123,014,396 (GRCm39)	I126T	probably benign	Het
Cdk13	A	T	13: 17,895,800 (GRCm39)	D1036E	probably damaging	Het
Cfap157	A	G	2: 32,669,863 (GRCm39)	L240P	probably damaging	Het
Clec18a	C	A	8: 111,805,448 (GRCm39)	E218*	probably null	Het
Col3a1	T	C	1: 45,384,173 (GRCm39)		probably benign	Het
Dennd4a	A	G	9: 64,794,227 (GRCm39)	E682G	probably damaging	Het
Dnah14	T	C	1: 181,494,052 (GRCm39)	V1736A	possibly damaging	Het
Dpep2	T	A	8: 106,717,270 (GRCm39)	D162V	possibly damaging	Het
Drd3	C	A	16: 43,641,646 (GRCm39)	P321T	probably benign	Het
Egfr	A	G	11: 16,861,554 (GRCm39)	H1111R	probably benign	Het
Entpd1	T	C	19: 40,708,928 (GRCm39)	S58P	probably damaging	Het
Epha3	C	A	16: 63,423,967 (GRCm39)	V541L	possibly damaging	Het
Eri3	T	A	4: 117,421,825 (GRCm39)	D34E	probably damaging	Het
Eya1	T	C	1: 14,353,374 (GRCm39)	D58G	probably damaging	Het
Fat3	T	A	9: 15,833,975 (GRCm39)	S26C	probably null	Het
Fgl1	T	C	8: 41,653,548 (GRCm39)	D115G	probably damaging	Het
Fitm2	T	C	2: 163,312,036 (GRCm39)	Y59C	probably damaging	Het
Fras1	T	A	5: 96,912,725 (GRCm39)	I3343N	probably damaging	Het
Gba2	C	A	4: 43,568,330 (GRCm39)	C679F	probably damaging	Het
Glis2	G	A	16: 4,431,603 (GRCm39)		probably benign	Het
Gm5150	T	A	3: 16,044,917 (GRCm39)	I103F	probably damaging	Het
Hhipl2	T	C	1: 183,204,965 (GRCm39)	S313P	possibly damaging	Het
Hmgcs1	A	G	13: 120,166,995 (GRCm39)	D474G	probably benign	Het
Homer3	C	T	8: 70,744,076 (GRCm39)	Q267*	probably null	Het
Hsd17b8	A	G	17: 34,246,429 (GRCm39)	L118P	probably damaging	Het
Igkv8-28	C	T	6: 70,120,673 (GRCm39)	G90D	probably damaging	Het
Kalrn	T	A	16: 34,181,255 (GRCm39)	I128F	probably damaging	Het
Krt4	A	G	15: 101,831,194 (GRCm39)		probably null	Het
Lamb2	T	A	9: 108,364,811 (GRCm39)	C1188*	probably null	Het
Lsr	A	T	7: 30,658,042 (GRCm39)	M355K	probably damaging	Het
Map3k11	T	G	19: 5,747,430 (GRCm39)	D555E	probably benign	Het
Myocd	A	G	11: 65,087,082 (GRCm39)	Y282H	probably damaging	Het
Nae1	T	C	8: 105,261,176 (GRCm39)	I7M	probably benign	Het
Nprl3	G	T	11: 32,205,453 (GRCm39)	H102N	possibly damaging	Het
Nup62	T	A	7: 44,478,464 (GRCm39)	F160I	possibly damaging	Het
Or10w1	C	A	19: 13,631,871 (GRCm39)	P26Q	possibly damaging	Het
Or2d3c	A	T	7: 106,525,896 (GRCm39)	F257I	probably benign	Het
Or2r2	T	A	6: 42,463,588 (GRCm39)	T180S	possibly damaging	Het
Or5p76	A	G	7: 108,122,945 (GRCm39)	S71P	probably benign	Het
Or6c35	C	A	10: 129,169,071 (GRCm39)	T107K	possibly damaging	Het
Osbpl10	T	C	9: 114,896,383 (GRCm39)		probably null	Het
Pcdh9	C	T	14: 94,123,282 (GRCm39)	V963I	probably benign	Het
Phf12	A	G	11: 77,909,044 (GRCm39)	R375G	probably benign	Het
Piezo1	G	A	8: 123,233,008 (GRCm39)	T108M	probably damaging	Het
Plxnc1	T	A	10: 94,779,635 (GRCm39)	Q269L	probably benign	Het
Pomgnt1	T	A	4: 116,008,799 (GRCm39)	N11K	possibly damaging	Het
Pramel22	T	A	4: 143,382,222 (GRCm39)	D158V	probably damaging	Het
Prkd1	A	T	12: 50,413,083 (GRCm39)		probably null	Het
Prpf40a	T	C	2: 53,049,293 (GRCm39)	T190A	probably benign	Het
Prrc2b	A	C	2: 32,102,297 (GRCm39)	H790P	possibly damaging	Het
Rest	T	G	5: 77,429,027 (GRCm39)	V482G	probably benign	Het
Ros1	T	A	10: 52,039,999 (GRCm39)	I322L	probably benign	Het
Rpl18	G	A	7: 45,369,554 (GRCm39)		probably benign	Het
Rsad2	G	A	12: 26,500,577 (GRCm39)	H237Y	probably benign	Het
Sbf2	A	G	7: 110,040,741 (GRCm39)	L362S	probably damaging	Het
Sgsm3	A	G	15: 80,893,464 (GRCm39)	T409A	probably benign	Het
Slc16a14	T	C	1: 84,890,430 (GRCm39)	T292A	possibly damaging	Het
Spg11	T	G	2: 121,927,837 (GRCm39)	K649T	probably damaging	Het
Srprb	T	A	9: 103,067,415 (GRCm39)	I268F	possibly damaging	Het
Tap2	G	A	17: 34,433,683 (GRCm39)	G566S	probably damaging	Het
Tecpr2	T	C	12: 110,885,325 (GRCm39)	V168A	possibly damaging	Het
Tln1	G	C	4: 43,555,052 (GRCm39)	F259L	probably damaging	Het
Tmem181a	T	A	17: 6,330,890 (GRCm39)	L50H	probably damaging	Het
Tshz1	A	G	18: 84,032,194 (GRCm39)	I738T	probably damaging	Het
Tspan12	T	C	6: 21,772,637 (GRCm39)	E304G	probably benign	Het
Vmn2r2	T	C	3: 64,024,782 (GRCm39)	S600G	possibly damaging	Het
Wnt3	C	A	11: 103,699,000 (GRCm39)	Y35*	probably null	Het
Xpo7	T	C	14: 70,921,159 (GRCm39)	Y603C	possibly damaging	Het
Zfp457	G	A	13: 67,442,015 (GRCm39)	H91Y	probably damaging	Het
Zfp664	T	A	5: 124,963,250 (GRCm39)	C215S	unknown	Het
Zfp882	G	A	8: 72,668,349 (GRCm39)	G392D	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
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
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'- GTAGTAAACTCTCCTGCCCAG -3'
(R):5'- TTGCCATAGTAGAGGAAATGCTC -3'

Sequencing Primer
(F):5'- GGGTGACGGCCCTCTCC -3'
(R):5'- AGCTGAGGAGACCCTTGCTTC -3'

Posted On

2017-07-14