Mutagenetix > Incidental Mutation

Incidental Mutation 'R7339:Urb1'

569731

Institutional Source

Beutler Lab

Gene Symbol

Urb1

Ensembl Gene

ENSMUSG00000039929

Gene Name

URB1 ribosome biogenesis 1 homolog (S. cerevisiae)

Synonyms

4921511H13Rik, 5730405K23Rik

MMRRC Submission

045429-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7339 (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

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,272,384 (GRCm38)		probably null	Het
2900026A02Rik	T	C	5: 113,183,072 (GRCm38)	D1092G	probably benign	Het
9030624J02Rik	A	T	7: 118,809,971 (GRCm38)	I612F	probably damaging	Het
Abcb11	C	T	2: 69,299,867 (GRCm38)	D282N	probably damaging	Het
Ahnak	A	T	19: 9,008,165 (GRCm38)	N2271I	possibly damaging	Het
Amz1	A	G	5: 140,741,551 (GRCm38)	S90G	probably benign	Het
Arhgap5	A	G	12: 52,517,698 (GRCm38)	E484G	possibly damaging	Het
Arid3c	A	G	4: 41,729,883 (GRCm38)		probably null	Het
Atp1a1	T	C	3: 101,589,872 (GRCm38)	I373V	probably benign	Het
Barhl1	T	C	2: 28,909,887 (GRCm38)	E242G	probably damaging	Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,321,318 (GRCm38)		probably benign	Het
Casz1	T	A	4: 148,951,745 (GRCm38)	V1488E	probably damaging	Het
Ccdc175	C	A	12: 72,136,041 (GRCm38)	Q401H	probably damaging	Het
Cfap36	T	C	11: 29,225,925 (GRCm38)	Y191C	probably benign	Het
Chmp2b	G	A	16: 65,545,346 (GRCm38)	Q119*	probably null	Het
Cps1	T	A	1: 67,197,015 (GRCm38)	I969N	possibly damaging	Het
Dennd5a	A	G	7: 109,901,159 (GRCm38)	F920L	probably damaging	Het
Dnah12	A	T	14: 26,872,320 (GRCm38)	T3410S	probably benign	Het
Fbxo42	T	G	4: 141,200,144 (GRCm38)	S578R	possibly damaging	Het
Fcgr1	C	T	3: 96,284,299 (GRCm38)	G398R	not run	Het
Foxa3	A	T	7: 19,014,869 (GRCm38)	Y111N	probably damaging	Het
Gabbr2	T	C	4: 46,846,340 (GRCm38)	K190E	probably benign	Het
Gbp10	T	C	5: 105,220,098 (GRCm38)	Y403C	possibly damaging	Het
Gm906	A	T	13: 50,247,168 (GRCm38)	I374N	possibly damaging	Het
Hsd3b5	A	G	3: 98,622,074 (GRCm38)	I80T	probably damaging	Het
Kri1	T	G	9: 21,286,587 (GRCm38)	Q89P		Het
Lrp6	G	T	6: 134,450,818 (GRCm38)	P1604T	probably damaging	Het
Metap1	T	C	3: 138,466,137 (GRCm38)		probably null	Het
Mkrn3	C	T	7: 62,419,782 (GRCm38)	R87H	probably benign	Het
Ms4a6d	G	A	19: 11,590,073 (GRCm38)	Q155*	probably null	Het
Myh6	T	C	14: 54,961,568 (GRCm38)		probably null	Het
Naip6	G	T	13: 100,316,019 (GRCm38)	P178Q	probably damaging	Het
Ncapg2	A	G	12: 116,414,834 (GRCm38)	E160G	probably damaging	Het
Nek6	G	A	2: 38,560,965 (GRCm38)	A127T	probably damaging	Het
Nell1	T	C	7: 50,279,549 (GRCm38)	V264A	probably benign	Het
Nlrp2	T	A	7: 5,327,628 (GRCm38)	I590F	possibly damaging	Het
Olfr1308	A	T	2: 111,960,611 (GRCm38)	M154K	probably benign	Het
Olfr1310	A	G	2: 112,008,475 (GRCm38)	L237P	probably damaging	Het
Olfr1390	G	A	11: 49,341,048 (GRCm38)	R172Q	not run	Het
Olfr503	A	C	7: 108,544,900 (GRCm38)	D125A	probably damaging	Het
Olfr71	C	T	4: 43,706,080 (GRCm38)	A163T	probably benign	Het
Otop3	T	A	11: 115,346,378 (GRCm38)	L556Q	probably damaging	Het
Padi1	T	C	4: 140,829,234 (GRCm38)	D190G	probably null	Het
Pald1	T	C	10: 61,323,331 (GRCm38)	S774G	possibly damaging	Het
Pde10a	C	T	17: 8,757,028 (GRCm38)	T55I	probably benign	Het
Pla2g4d	T	C	2: 120,278,978 (GRCm38)	M197V	probably benign	Het
Prom1	C	A	5: 44,101,653 (GRCm38)		probably benign	Het
Ptdss1	A	G	13: 66,963,362 (GRCm38)	H164R	possibly damaging	Het
Rrh	A	T	3: 129,810,613 (GRCm38)	I313N	probably damaging	Het
Slc35b4	A	G	6: 34,167,656 (GRCm38)	I88T	probably damaging	Het
Slc38a11	C	T	2: 65,326,570 (GRCm38)	V353I	probably benign	Het
Spdef	T	A	17: 27,720,245 (GRCm38)	E42D	probably benign	Het
Tgoln1	G	C	6: 72,616,278 (GRCm38)	T73R	probably benign	Het
Tmx1	A	G	12: 70,458,850 (GRCm38)	D129G	probably benign	Het
Trav13n-4	A	T	14: 53,363,978 (GRCm38)	Y68F	probably benign	Het
Trp53	T	C	11: 69,589,189 (GRCm38)	S238P	probably damaging	Het
Trp53bp1	T	C	2: 121,236,469 (GRCm38)	D592G	probably benign	Het
Ttll5	T	C	12: 85,857,464 (GRCm38)		probably null	Het
Vmn2r43	A	T	7: 8,255,307 (GRCm38)	Y302*	probably null	Het
Vps13d	C	T	4: 145,121,368 (GRCm38)	V2478I		Het
Wsb1	A	G	11: 79,240,358 (GRCm38)	V404A	probably damaging	Het
Zfc3h1	A	G	10: 115,403,300 (GRCm38)	D539G	probably damaging	Het
Zfp318	T	C	17: 46,411,247 (GRCm38)	V1392A	probably damaging	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
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
R7609: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'- ACCTGAACACTGTTGATCTGTG -3'
(R):5'- CAGTGTTGTGATCTGCTACCC -3'

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

Posted On

2019-09-13