Mutagenetix > Incidental Mutation

Incidental Mutation 'R7609:Urb1'

588517

Institutional Source

Beutler Lab

Gene Symbol

Urb1

Ensembl Gene

ENSMUSG00000039929

Gene Name

URB1 ribosome biogenesis 1 homolog (S. cerevisiae)

Synonyms

4921511H13Rik, 5730405K23Rik

MMRRC Submission

045714-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7609 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

90751527-90810413 bp(-) (GRCm38)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

CACTTAC to CAC at 90772573 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000114717
Gene: ENSMUSG00000039929

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (69/72)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,989,460 (GRCm38)	Y288C	probably benign	Het
Acta2	G	A	19: 34,252,531 (GRCm38)	T8I	probably benign	Het
Agl	C	A	3: 116,807,279 (GRCm38)	R24I	possibly damaging	Het
Aldoart2	A	G	12: 55,566,048 (GRCm38)	T253A	probably benign	Het
Ankrd39	G	A	1: 36,539,465 (GRCm38)	R160W	probably damaging	Het
Aspscr1	C	T	11: 120,677,522 (GRCm38)	T57M	probably damaging	Het
Baz2b	A	G	2: 59,962,473 (GRCm38)	L437S	probably benign	Het
Bcl9l	T	A	9: 44,505,747 (GRCm38)	L331Q	probably damaging	Het
Cdhr4	C	A	9: 107,997,283 (GRCm38)	P546T	probably damaging	Het
Cfap61	T	C	2: 146,112,533 (GRCm38)	C231R	unknown	Het
Cnih4	T	C	1: 181,155,902 (GRCm38)	L61P	probably damaging	Het
Dtx4	A	G	19: 12,492,281 (GRCm38)	Y161H	probably damaging	Het
Epha7	C	T	4: 28,871,937 (GRCm38)	S422L	probably benign	Het
Ercc6	A	G	14: 32,566,361 (GRCm38)	H830R	probably benign	Het
Exoc7	T	C	11: 116,289,259 (GRCm38)	N673S	possibly damaging	Het
Gm12185	T	C	11: 48,916,023 (GRCm38)	S114G	possibly damaging	Het
Hsfy2	A	T	1: 56,637,151 (GRCm38)	F76I	probably benign	Het
Igsf9b	A	G	9: 27,345,890 (GRCm38)	D1413G	probably benign	Het
Klk8	G	A	7: 43,802,179 (GRCm38)	C198Y	probably damaging	Het
Lama3	G	T	18: 12,531,834 (GRCm38)		probably null	Het
Lce3f	A	T	3: 92,993,096 (GRCm38)	S75C	unknown	Het
Ldhal6b	T	C	17: 5,417,991 (GRCm38)	M223V	probably benign	Het
Magoh	T	C	4: 107,887,212 (GRCm38)	V126A	possibly damaging	Het
Mc1r	A	T	8: 123,408,293 (GRCm38)	I262F	probably damaging	Het
Mecom	A	G	3: 29,956,442 (GRCm38)	I629T	probably damaging	Het
Mkrn2os	A	G	6: 115,586,726 (GRCm38)	V116A	possibly damaging	Het
Muc5b	T	A	7: 141,861,729 (GRCm38)	V2804D	possibly damaging	Het
Myo15	T	C	11: 60,488,811 (GRCm38)	V279A		Het
Nhlrc2	A	G	19: 56,594,896 (GRCm38)	I600V	probably benign	Het
Nipbl	T	C	15: 8,305,872 (GRCm38)	Q2183R	probably benign	Het
Obscn	C	T	11: 59,000,299 (GRCm38)	E7136K	unknown	Het
Olfr1118	T	C	2: 87,309,509 (GRCm38)	V260A	probably benign	Het
Olfr25	A	C	9: 38,330,224 (GRCm38)	L209F	possibly damaging	Het
Olfr481	T	A	7: 108,081,546 (GRCm38)	F251I	probably damaging	Het
Olfr970	C	T	9: 39,820,287 (GRCm38)	T216I	probably benign	Het
Otop3	T	C	11: 115,339,720 (GRCm38)	I141T	possibly damaging	Het
Pde4dip	C	A	3: 97,715,565 (GRCm38)	V1443F	possibly damaging	Het
Pdgfra	T	C	5: 75,166,721 (GRCm38)	V193A	probably benign	Het
Phf3	T	C	1: 30,805,501 (GRCm38)	Y1459C	probably benign	Het
Pias4	A	T	10: 81,158,026 (GRCm38)		probably null	Het
Plcg2	A	G	8: 117,558,113 (GRCm38)	N159S	probably benign	Het
Plekha7	T	C	7: 116,164,446 (GRCm38)	D307G	probably benign	Het
Ptprd	T	C	4: 76,072,003 (GRCm38)	K491E	probably benign	Het
Rbpjl	A	T	2: 164,405,814 (GRCm38)	R62S	probably benign	Het
Rgs11	T	C	17: 26,207,441 (GRCm38)	S245P	probably damaging	Het
Ripor3	G	A	2: 167,984,570 (GRCm38)	A685V	possibly damaging	Het
Rnase9	G	A	14: 51,039,483 (GRCm38)	P13S	possibly damaging	Het
Scin	C	T	12: 40,124,589 (GRCm38)	C165Y	probably damaging	Het
Senp7	T	C	16: 56,111,637 (GRCm38)	W100R	probably benign	Het
Slc26a2	T	C	18: 61,198,460 (GRCm38)	D633G	probably benign	Het
Slc4a4	C	T	5: 89,135,686 (GRCm38)	P446S	probably damaging	Het
Soga3	A	T	10: 29,148,228 (GRCm38)	D380V	probably damaging	Het
Spag17	T	A	3: 100,095,595 (GRCm38)	C1878*	probably null	Het
Ssc5d	A	G	7: 4,927,576 (GRCm38)	E129G	possibly damaging	Het
Supt6	T	C	11: 78,226,951 (GRCm38)	N480D	probably benign	Het
Tbk1	A	G	10: 121,552,501 (GRCm38)	L590S	probably damaging	Het
Tex45	A	T	8: 3,476,057 (GRCm38)	H70L	probably benign	Het
Tmem63a	T	A	1: 180,952,974 (GRCm38)		probably null	Het
Tpsg1	G	T	17: 25,373,210 (GRCm38)	G86V	probably damaging	Het
Trio	A	G	15: 27,912,642 (GRCm38)	S109P	unknown	Het
Tsga10	A	T	1: 37,804,893 (GRCm38)		probably null	Het
Ttn	A	T	2: 76,795,763 (GRCm38)	L14984*	probably null	Het
Tyr	T	C	7: 87,483,884 (GRCm38)	T325A	probably benign	Het
U2surp	A	T	9: 95,485,679 (GRCm38)		probably null	Het
Uba6	C	A	5: 86,147,075 (GRCm38)	K368N	probably benign	Het
Upb1	A	G	10: 75,436,201 (GRCm38)	T283A	probably benign	Het
Vmn1r31	A	G	6: 58,472,470 (GRCm38)	Y137H	probably damaging	Het
Wdtc1	T	C	4: 133,296,437 (GRCm38)	K541R	probably damaging	Het
Wrn	A	G	8: 33,310,713 (GRCm38)	I624T	possibly damaging	Het
Zfp804b	T	A	5: 6,770,066 (GRCm38)	D999V	possibly damaging	Het
Zmym4	T	A	4: 126,925,795 (GRCm38)	H105L	probably benign	Het

Other mutations in Urb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00715:Urb1	APN	16	90,753,321 (GRCm38)	critical splice donor site	probably null
IGL00915:Urb1	APN	16	90,779,098 (GRCm38)	missense	possibly damaging	0.76
IGL01108:Urb1	APN	16	90,792,814 (GRCm38)	missense	probably damaging	1.00
IGL01122:Urb1	APN	16	90,804,458 (GRCm38)	missense	possibly damaging	0.81
IGL01387:Urb1	APN	16	90,757,761 (GRCm38)	missense	possibly damaging	0.64
IGL01484:Urb1	APN	16	90,777,560 (GRCm38)	missense	probably benign	0.11
IGL01606:Urb1	APN	16	90,760,459 (GRCm38)	missense	probably damaging	1.00
IGL01989:Urb1	APN	16	90,769,586 (GRCm38)	splice site	probably benign
IGL02516:Urb1	APN	16	90,772,695 (GRCm38)	missense	possibly damaging	0.49
IGL03018:Urb1	APN	16	90,788,156 (GRCm38)	missense	probably benign	0.02
IGL03165:Urb1	APN	16	90,780,304 (GRCm38)	missense	probably damaging	1.00
IGL03216:Urb1	APN	16	90,788,114 (GRCm38)	missense	probably benign	0.00
H8562:Urb1	UTSW	16	90,769,469 (GRCm38)	missense	probably benign	0.08
H8786:Urb1	UTSW	16	90,769,469 (GRCm38)	missense	probably benign	0.08
R0064:Urb1	UTSW	16	90,779,140 (GRCm38)	missense	probably benign
R0064:Urb1	UTSW	16	90,779,140 (GRCm38)	missense	probably benign
R0359:Urb1	UTSW	16	90,791,160 (GRCm38)	missense	probably damaging	1.00
R0386:Urb1	UTSW	16	90,796,399 (GRCm38)	missense	probably damaging	1.00
R0508:Urb1	UTSW	16	90,783,262 (GRCm38)	splice site	probably benign
R0517:Urb1	UTSW	16	90,777,422 (GRCm38)	nonsense	probably null
R0704:Urb1	UTSW	16	90,776,207 (GRCm38)	missense	probably benign	0.31
R0755:Urb1	UTSW	16	90,779,138 (GRCm38)	missense	probably benign
R0755:Urb1	UTSW	16	90,774,094 (GRCm38)	missense	probably damaging	1.00
R0783:Urb1	UTSW	16	90,810,297 (GRCm38)	missense	possibly damaging	0.55
R0833:Urb1	UTSW	16	90,795,448 (GRCm38)	missense	possibly damaging	0.89
R0836:Urb1	UTSW	16	90,795,448 (GRCm38)	missense	possibly damaging	0.89
R0970:Urb1	UTSW	16	90,769,447 (GRCm38)	missense	possibly damaging	0.83
R1144:Urb1	UTSW	16	90,776,318 (GRCm38)	splice site	probably null
R1344:Urb1	UTSW	16	90,769,466 (GRCm38)	missense	probably damaging	1.00
R1418:Urb1	UTSW	16	90,769,466 (GRCm38)	missense	probably damaging	1.00
R1453:Urb1	UTSW	16	90,796,492 (GRCm38)	missense	probably damaging	1.00
R1470:Urb1	UTSW	16	90,752,014 (GRCm38)	missense	probably benign	0.34
R1470:Urb1	UTSW	16	90,752,014 (GRCm38)	missense	probably benign	0.34
R1520:Urb1	UTSW	16	90,774,745 (GRCm38)	missense	probably benign	0.00
R1521:Urb1	UTSW	16	90,753,863 (GRCm38)	missense	probably damaging	1.00
R1598:Urb1	UTSW	16	90,777,440 (GRCm38)	missense	possibly damaging	0.93
R1617:Urb1	UTSW	16	90,760,452 (GRCm38)	missense	possibly damaging	0.82
R1625:Urb1	UTSW	16	90,774,048 (GRCm38)	critical splice donor site	probably null
R1640:Urb1	UTSW	16	90,772,626 (GRCm38)	missense	probably benign	0.00
R1664:Urb1	UTSW	16	90,788,082 (GRCm38)	critical splice donor site	probably null
R1672:Urb1	UTSW	16	90,787,397 (GRCm38)	missense	probably damaging	1.00
R1694:Urb1	UTSW	16	90,767,040 (GRCm38)	missense	probably benign
R1856:Urb1	UTSW	16	90,761,695 (GRCm38)	missense	probably benign	0.00
R2001:Urb1	UTSW	16	90,762,344 (GRCm38)	missense	probably benign	0.30
R2196:Urb1	UTSW	16	90,774,256 (GRCm38)	missense	probably benign	0.01
R2850:Urb1	UTSW	16	90,774,256 (GRCm38)	missense	probably benign	0.01
R3009:Urb1	UTSW	16	90,774,798 (GRCm38)	missense	probably benign	0.09
R3104:Urb1	UTSW	16	90,795,443 (GRCm38)	missense	probably damaging	1.00
R3105:Urb1	UTSW	16	90,795,443 (GRCm38)	missense	probably damaging	1.00
R3106:Urb1	UTSW	16	90,795,443 (GRCm38)	missense	probably damaging	1.00
R3160:Urb1	UTSW	16	90,797,903 (GRCm38)	missense	probably damaging	1.00
R3162:Urb1	UTSW	16	90,797,903 (GRCm38)	missense	probably damaging	1.00
R3900:Urb1	UTSW	16	90,783,376 (GRCm38)	missense	possibly damaging	0.86
R4014:Urb1	UTSW	16	90,769,465 (GRCm38)	missense	probably damaging	1.00
R4036:Urb1	UTSW	16	90,788,086 (GRCm38)	missense	probably benign
R4332:Urb1	UTSW	16	90,774,537 (GRCm38)	missense	probably damaging	1.00
R4448:Urb1	UTSW	16	90,769,394 (GRCm38)	missense	possibly damaging	0.71
R4581:Urb1	UTSW	16	90,788,146 (GRCm38)	missense	probably benign	0.04
R4593:Urb1	UTSW	16	90,787,444 (GRCm38)	missense	probably damaging	1.00
R4610:Urb1	UTSW	16	90,776,271 (GRCm38)	missense	probably benign	0.43
R4659:Urb1	UTSW	16	90,776,129 (GRCm38)	missense	probably damaging	0.96
R4672:Urb1	UTSW	16	90,772,634 (GRCm38)	missense	probably benign
R4681:Urb1	UTSW	16	90,804,537 (GRCm38)	missense	probably damaging	0.99
R4771:Urb1	UTSW	16	90,753,518 (GRCm38)	missense	probably benign	0.00
R4790:Urb1	UTSW	16	90,769,555 (GRCm38)	nonsense	probably null
R4798:Urb1	UTSW	16	90,757,827 (GRCm38)	missense	probably benign	0.12
R4809:Urb1	UTSW	16	90,759,842 (GRCm38)	missense	possibly damaging	0.82
R4850:Urb1	UTSW	16	90,795,414 (GRCm38)	nonsense	probably null
R4916:Urb1	UTSW	16	90,783,328 (GRCm38)	missense	probably damaging	1.00
R4969:Urb1	UTSW	16	90,805,411 (GRCm38)	missense	probably damaging	1.00
R5032:Urb1	UTSW	16	90,756,171 (GRCm38)	missense	probably benign	0.00
R5111:Urb1	UTSW	16	90,752,017 (GRCm38)	missense	probably benign	0.00
R5122:Urb1	UTSW	16	90,752,095 (GRCm38)	nonsense	probably null
R5184:Urb1	UTSW	16	90,783,274 (GRCm38)	critical splice donor site	probably null
R5199:Urb1	UTSW	16	90,792,748 (GRCm38)	missense	possibly damaging	0.95
R5436:Urb1	UTSW	16	90,792,762 (GRCm38)	missense	probably damaging	1.00
R5767:Urb1	UTSW	16	90,776,163 (GRCm38)	missense	probably benign	0.00
R5812:Urb1	UTSW	16	90,804,537 (GRCm38)	missense	probably damaging	0.99
R5872:Urb1	UTSW	16	90,772,764 (GRCm38)	nonsense	probably null
R6052:Urb1	UTSW	16	90,762,383 (GRCm38)	missense	probably damaging	1.00
R6063:Urb1	UTSW	16	90,789,097 (GRCm38)	missense	probably benign	0.02
R6065:Urb1	UTSW	16	90,803,332 (GRCm38)	missense	probably benign	0.03
R6181:Urb1	UTSW	16	90,779,094 (GRCm38)	missense	probably benign	0.00
R6268:Urb1	UTSW	16	90,753,919 (GRCm38)	missense	probably benign	0.03
R6429:Urb1	UTSW	16	90,762,430 (GRCm38)	splice site	probably null
R6572:Urb1	UTSW	16	90,787,414 (GRCm38)	missense	probably benign	0.37
R6606:Urb1	UTSW	16	90,810,268 (GRCm38)	missense	probably benign	0.00
R6730:Urb1	UTSW	16	90,779,083 (GRCm38)	missense	possibly damaging	0.89
R6838:Urb1	UTSW	16	90,782,106 (GRCm38)	missense	possibly damaging	0.93
R7237:Urb1	UTSW	16	90,791,166 (GRCm38)	missense	probably damaging	1.00
R7238:Urb1	UTSW	16	90,752,115 (GRCm38)	missense	possibly damaging	0.88
R7339:Urb1	UTSW	16	90,772,573 (GRCm38)	critical splice donor site	probably benign
R7341:Urb1	UTSW	16	90,772,573 (GRCm38)	critical splice donor site	probably benign
R7361:Urb1	UTSW	16	90,774,768 (GRCm38)	missense	probably damaging	0.99
R7365:Urb1	UTSW	16	90,772,573 (GRCm38)	critical splice donor site	probably benign
R7366:Urb1	UTSW	16	90,772,573 (GRCm38)	critical splice donor site	probably benign
R7440:Urb1	UTSW	16	90,787,408 (GRCm38)	missense	probably damaging	1.00
R7530:Urb1	UTSW	16	90,761,634 (GRCm38)	missense	probably damaging	1.00
R7553:Urb1	UTSW	16	90,792,864 (GRCm38)	missense	probably damaging	1.00
R7557:Urb1	UTSW	16	90,772,573 (GRCm38)	critical splice donor site	probably benign
R7603:Urb1	UTSW	16	90,772,573 (GRCm38)	critical splice donor site	probably benign
R7607:Urb1	UTSW	16	90,772,573 (GRCm38)	critical splice donor site	probably benign
R7610:Urb1	UTSW	16	90,772,573 (GRCm38)	critical splice donor site	probably benign
R7612:Urb1	UTSW	16	90,797,910 (GRCm38)	missense	probably damaging	1.00
R7613:Urb1	UTSW	16	90,772,573 (GRCm38)	critical splice donor site	probably benign
R7684:Urb1	UTSW	16	90,786,118 (GRCm38)	nonsense	probably null
R8029:Urb1	UTSW	16	90,779,152 (GRCm38)	missense	possibly damaging	0.67
R8324:Urb1	UTSW	16	90,791,190 (GRCm38)	missense	probably damaging	1.00
R8680:Urb1	UTSW	16	90,774,625 (GRCm38)	missense	probably benign	0.00
R8785:Urb1	UTSW	16	90,803,423 (GRCm38)	missense	probably benign	0.07
R8914:Urb1	UTSW	16	90,810,234 (GRCm38)	missense	probably damaging	1.00
R8959:Urb1	UTSW	16	90,774,117 (GRCm38)	missense	probably benign	0.26
R9005:Urb1	UTSW	16	90,753,790 (GRCm38)	missense	probably benign	0.01
R9126:Urb1	UTSW	16	90,769,402 (GRCm38)	missense	possibly damaging	0.53
R9195:Urb1	UTSW	16	90,792,750 (GRCm38)	missense	probably benign	0.03
R9276:Urb1	UTSW	16	90,772,575 (GRCm38)	splice site	probably benign
R9534:Urb1	UTSW	16	90,786,208 (GRCm38)	missense	possibly damaging	0.54
Z1177:Urb1	UTSW	16	90,774,862 (GRCm38)	missense	probably benign	0.05
Z1177:Urb1	UTSW	16	90,753,883 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACCTGAACACTGTTGATCTGTGG -3'
(R):5'- CAGTGTTGTGATCTGCTACCC -3'

Sequencing Primer
(F):5'- ATCTGTGGGTGGCTTTCCATG -3'
(R):5'- TTGGACCCTGGCTGACTCTG -3'

Posted On

2019-10-24