Mutagenetix > Incidental Mutation

Incidental Mutation 'R6268:Urb1'

507186

Institutional Source

Beutler Lab

Gene Symbol

Urb1

Ensembl Gene

ENSMUSG00000039929

Gene Name

URB1 ribosome biogenesis 1 homolog (S. cerevisiae)

Synonyms

5730405K23Rik, 4921511H13Rik

MMRRC Submission

044439-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6268 (G1)

Quality Score

168.009

Status

Validated

Chromosome

Chromosomal Location

90548415-90607301 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90550807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 2015 (M2015T)

Ref Sequence

ENSEMBL: ENSMUSP00000114717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038197] [ENSMUST00000125429] [ENSMUST00000138984] [ENSMUST00000140920]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000038197

SMART Domains

Protein: ENSMUSP00000043890
Gene: ENSMUSG00000039956

Domain	Start	End	E-Value	Type
Pfam:MRAP	1	90	1.7e-49	PFAM
low complexity region	115	127	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125429

Predicted Effect

probably benign
Transcript: ENSMUST00000138984

Predicted Effect

probably benign
Transcript: ENSMUST00000140920
AA Change: M2015T

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000114717
Gene: ENSMUSG00000039929
AA Change: M2015T

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

0.0574

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,545,219 (GRCm39)	I78T	probably benign	Het
Afg3l1	A	T	8: 124,219,665 (GRCm39)	I398F	probably damaging	Het
Ahctf1	T	C	1: 179,591,048 (GRCm39)	H1244R	probably benign	Het
Ank1	A	T	8: 23,599,687 (GRCm39)	K797N	probably damaging	Het
Anxa6	G	T	11: 54,877,903 (GRCm39)		probably null	Het
Aoc1l1	T	A	6: 48,954,616 (GRCm39)	Y585N	probably benign	Het
Ap1b1	T	A	11: 4,969,493 (GRCm39)	V310E	probably damaging	Het
C2cd2l	T	C	9: 44,228,963 (GRCm39)	I123V	probably damaging	Het
Cars2	TCCCC	TCCC	8: 11,579,599 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,874,771 (GRCm39)	I542F	probably damaging	Het
Cfap57	G	T	4: 118,426,648 (GRCm39)	Y1100*	probably null	Het
Coq9	A	G	8: 95,576,862 (GRCm39)	E158G	probably benign	Het
Cox15	A	T	19: 43,728,365 (GRCm39)	W303R	possibly damaging	Het
Cpa5	A	G	6: 30,615,172 (GRCm39)	Y103C	probably damaging	Het
Crygn	A	T	5: 24,961,189 (GRCm39)	V39E	probably damaging	Het
Csf1	G	T	3: 107,654,473 (GRCm39)	S132R	possibly damaging	Het
Dapk1	G	A	13: 60,909,580 (GRCm39)	V1398M	possibly damaging	Het
Degs2	C	A	12: 108,658,839 (GRCm39)	V47L	probably damaging	Het
Dock5	C	A	14: 68,027,724 (GRCm39)	E1057*	probably null	Het
Dsg1b	C	A	18: 20,521,220 (GRCm39)	Q26K	probably benign	Het
Elp1	T	C	4: 56,762,305 (GRCm39)	Y1098C	probably damaging	Het
Fam181a	T	C	12: 103,282,803 (GRCm39)	V236A	possibly damaging	Het
Fam78b	C	A	1: 166,906,122 (GRCm39)	P94T	probably damaging	Het
Fbxw25	T	G	9: 109,483,718 (GRCm39)	T165P	probably damaging	Het
Flg	C	A	3: 93,195,482 (GRCm39)		probably benign	Het
Frrs1	G	T	3: 116,696,748 (GRCm39)	V573F	probably damaging	Het
Gm7298	A	G	6: 121,756,032 (GRCm39)	T964A	possibly damaging	Het
Hoxd9	G	T	2: 74,528,433 (GRCm39)	V12L	probably damaging	Het
Kcnt1	A	G	2: 25,793,609 (GRCm39)		probably null	Het
Klhl3	G	T	13: 58,161,656 (GRCm39)	R480S	probably damaging	Het
Klhl36	A	G	8: 120,597,406 (GRCm39)	D369G	probably damaging	Het
Lama3	T	A	18: 12,657,794 (GRCm39)	N303K	probably damaging	Het
Lhcgr	T	C	17: 89,050,132 (GRCm39)	T465A	probably damaging	Het
Llgl1	T	C	11: 60,602,989 (GRCm39)	V888A	probably benign	Het
Lrp1b	T	A	2: 40,711,729 (GRCm39)	T3164S	probably benign	Het
Mmp3	T	G	9: 7,447,622 (GRCm39)	D202E	possibly damaging	Het
Mocs1	C	A	17: 49,742,183 (GRCm39)	T104K	probably damaging	Het
Mrpl42	A	T	10: 95,332,569 (GRCm39)		probably null	Het
Mtch2	T	C	2: 90,693,992 (GRCm39)	C279R	probably benign	Het
Muc4	A	T	16: 32,589,141 (GRCm39)	D2836V	probably damaging	Het
Myh7	T	C	14: 55,226,741 (GRCm39)	E370G	probably benign	Het
Naa11	A	G	5: 97,540,069 (GRCm39)	Y30H	probably damaging	Het
Ntng1	T	C	3: 109,842,351 (GRCm39)	T141A	probably damaging	Het
Or5h26	A	C	16: 58,987,656 (GRCm39)		probably null	Het
Or8c11	T	C	9: 38,289,384 (GRCm39)	I69T	probably benign	Het
Or9i14	A	T	19: 13,792,671 (GRCm39)	Y94*	probably null	Het
Pcdha12	G	A	18: 37,155,477 (GRCm39)	C732Y	possibly damaging	Het
Plekhm2	G	A	4: 141,359,652 (GRCm39)	Q392*	probably null	Het
Prr22	G	A	17: 57,078,587 (GRCm39)	V247M	probably damaging	Het
Rapgef6	T	A	11: 54,540,073 (GRCm39)	L716Q	probably damaging	Het
Rasgrp4	G	A	7: 28,842,493 (GRCm39)	V246I	probably damaging	Het
Rhbdd2	C	T	5: 135,672,114 (GRCm39)	T323I	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Homo
Scgb2b20	A	T	7: 33,063,973 (GRCm39)	I99K	possibly damaging	Het
Scyl3	C	T	1: 163,773,786 (GRCm39)	R324*	probably null	Het
Slc23a1	T	C	18: 35,752,624 (GRCm39)	Y551C	probably damaging	Het
Slc5a5	A	T	8: 71,341,264 (GRCm39)	S358R	probably damaging	Het
Sorcs3	T	A	19: 48,778,605 (GRCm39)	N1007K	probably damaging	Het
Stxbp4	T	A	11: 90,431,027 (GRCm39)	K428*	probably null	Het
Tmem63c	T	A	12: 87,128,727 (GRCm39)	I584N	probably damaging	Het
Traf3ip3	C	T	1: 192,880,344 (GRCm39)		probably benign	Het
Trgv2	G	A	13: 19,521,001 (GRCm39)	T31I	probably benign	Het
Ttll3	C	T	6: 113,369,524 (GRCm39)	R23C	probably benign	Het
Ugt2a3	A	C	5: 87,477,472 (GRCm39)	L309R	probably damaging	Het
Vmn2r14	A	C	5: 109,369,283 (GRCm39)	S97A	possibly damaging	Het
Vps13c	C	A	9: 67,858,731 (GRCm39)	T2727K	probably benign	Het
Xrn1	T	A	9: 95,846,067 (GRCm39)	I40K	probably damaging	Het
Zc3h11a	A	G	1: 133,552,295 (GRCm39)	V604A	probably benign	Het
Zfp410	G	A	12: 84,378,612 (GRCm39)	R259H	probably benign	Het
Zfp748	A	G	13: 67,690,705 (GRCm39)	V185A	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
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'- TACTCTTGGGGATAGTCTGGCC -3'
(R):5'- ACACGCAGGGCATGTTCATG -3'

Sequencing Primer
(F):5'- CTGTGTGGGACCAGGCAAG -3'
(R):5'- GGGCATGTTCATGCTCCCTG -3'

Posted On

2018-03-15