Mutagenetix > Incidental Mutation

Incidental Mutation 'R0833:Urb1'

77680

Institutional Source

Beutler Lab

Gene Symbol

Urb1

Ensembl Gene

ENSMUSG00000039929

Gene Name

URB1 ribosome biogenesis 1 homolog (S. cerevisiae)

Synonyms

4921511H13Rik, 5730405K23Rik

MMRRC Submission

039012-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90751527-90810413 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90795448 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 308 (D308G)

Ref Sequence

ENSEMBL: ENSMUSP00000114717 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140920
AA Change: D308G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114717
Gene: ENSMUSG00000039929
AA Change: D308G

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: ENSMUST00000140942

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142955

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.6%

Validation Efficiency

100% (97/97)

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,165,069 (GRCm38)	L41P	probably damaging	Het
3110082I17Rik	A	G	5: 139,364,120 (GRCm38)	V58A	possibly damaging	Het
4932415M13Rik	A	T	17: 53,724,346 (GRCm38)		noncoding transcript	Het
Aldh1a7	C	T	19: 20,702,243 (GRCm38)	V390M	probably damaging	Het
Alg14	A	G	3: 121,298,610 (GRCm38)	H34R	probably damaging	Het
Ankrd27	A	G	7: 35,608,347 (GRCm38)	N337S	probably damaging	Het
Apoa2	T	A	1: 171,225,379 (GRCm38)		probably benign	Het
Arl2	T	G	19: 6,136,022 (GRCm38)	K126T	probably damaging	Het
Ascc3	T	C	10: 50,845,666 (GRCm38)	W2072R	probably benign	Het
Astl	T	C	2: 127,342,419 (GRCm38)	F21L	probably benign	Het
Asxl3	A	G	18: 22,516,040 (GRCm38)	D362G	probably damaging	Het
Bdp1	A	T	13: 100,035,825 (GRCm38)	H2094Q	probably benign	Het
Cacna2d4	C	T	6: 119,307,286 (GRCm38)	R745W	probably damaging	Het
Cbwd1	A	G	19: 24,940,839 (GRCm38)		probably benign	Het
Ccdc144b	A	G	3: 36,020,213 (GRCm38)		probably benign	Het
Ccdc85a	T	A	11: 28,583,296 (GRCm38)	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,802,394 (GRCm38)	M336K	probably benign	Het
Cd226	A	C	18: 89,207,020 (GRCm38)		probably benign	Het
Ces1f	A	T	8: 93,270,024 (GRCm38)	S214T	probably damaging	Het
Clip1	T	C	5: 123,630,721 (GRCm38)	D605G	probably benign	Het
Col26a1	A	G	5: 136,765,300 (GRCm38)		probably null	Het
Crtc1	A	G	8: 70,393,013 (GRCm38)	V306A	probably benign	Het
D130043K22Rik	G	A	13: 24,863,580 (GRCm38)		probably benign	Het
D17H6S53E	A	T	17: 35,127,409 (GRCm38)		probably null	Het
D17Wsu92e	A	T	17: 27,786,138 (GRCm38)	S148R	probably damaging	Het
Dnah11	G	A	12: 118,196,662 (GRCm38)	A111V	probably benign	Het
Dyrk2	T	C	10: 118,861,122 (GRCm38)	H77R	probably benign	Het
E330017A01Rik	G	A	16: 58,635,523 (GRCm38)	S129L	probably damaging	Het
Epha3	A	G	16: 63,603,519 (GRCm38)		probably benign	Het
Epn2	T	C	11: 61,519,491 (GRCm38)	N611S	probably benign	Het
Erich6	A	C	3: 58,618,944 (GRCm38)		probably benign	Het
Fam217b	T	C	2: 178,420,989 (GRCm38)	S249P	probably benign	Het
Fam219b	A	G	9: 57,538,016 (GRCm38)		probably benign	Het
Fryl	A	T	5: 73,089,081 (GRCm38)		probably benign	Het
Gm12800	G	A	4: 101,910,097 (GRCm38)	C181Y	probably damaging	Het
Gm13089	A	T	4: 143,698,486 (GRCm38)	M129K	probably benign	Het
Gm14496	T	C	2: 181,996,266 (GRCm38)	W378R	probably damaging	Het
Gm5155	C	A	7: 17,904,981 (GRCm38)	A301E	possibly damaging	Het
Gm8674	A	T	13: 49,904,575 (GRCm38)		noncoding transcript	Het
Grap	T	A	11: 61,660,239 (GRCm38)	D32E	possibly damaging	Het
Grk2	C	A	19: 4,289,357 (GRCm38)	L428F	probably damaging	Het
Grm8	T	A	6: 27,363,179 (GRCm38)	E779V	probably damaging	Het
Hipk1	A	G	3: 103,754,296 (GRCm38)	S670P	probably damaging	Het
Itgae	A	T	11: 73,129,206 (GRCm38)	M845L	probably benign	Het
Itih1	A	T	14: 30,941,555 (GRCm38)	V164E	probably damaging	Het
Itpka	T	A	2: 119,750,831 (GRCm38)	N448K	probably damaging	Het
Jak3	A	C	8: 71,683,978 (GRCm38)	N643T	probably damaging	Het
Lrfn5	A	C	12: 61,839,668 (GRCm38)	T81P	probably damaging	Het
Lrrc45	T	A	11: 120,718,193 (GRCm38)		probably null	Het
March6	T	C	15: 31,480,291 (GRCm38)	Y562C	probably benign	Het
Mcrs1	T	C	15: 99,243,449 (GRCm38)		probably benign	Het
Meis1	G	A	11: 18,881,767 (GRCm38)	H424Y	possibly damaging	Het
Mst1r	A	G	9: 107,914,776 (GRCm38)	N837S	probably benign	Het
Mst1r	G	A	9: 107,913,167 (GRCm38)	V660I	probably benign	Het
Mthfd2l	T	C	5: 90,946,942 (GRCm38)	V90A	probably damaging	Het
Mtnr1a	A	T	8: 45,087,937 (GRCm38)	I312F	probably benign	Het
Olfr1513	T	C	14: 52,349,378 (GRCm38)	I223V	probably benign	Het
Olfr578	C	A	7: 102,984,836 (GRCm38)	L109F	possibly damaging	Het
Olfr875	T	C	9: 37,773,076 (GRCm38)	V139A	probably benign	Het
Otog	C	T	7: 46,269,362 (GRCm38)	T954I	possibly damaging	Het
Pdcd6	A	G	13: 74,316,324 (GRCm38)		probably benign	Het
Phlpp2	A	G	8: 109,937,106 (GRCm38)	T926A	probably damaging	Het
Plec	GGCAGCAG	GGCAGCAGCAG	15: 76,181,907 (GRCm38)		probably benign	Het
Plekha5	T	A	6: 140,589,634 (GRCm38)		probably benign	Het
Ppp1r16a	C	T	15: 76,693,669 (GRCm38)	Q328*	probably null	Het
Rab27b	T	C	18: 69,987,041 (GRCm38)		probably benign	Het
Rapsn	T	C	2: 91,036,808 (GRCm38)	Y152H	probably damaging	Het
Rasd1	A	T	11: 59,964,553 (GRCm38)	F85I	probably damaging	Het
Rgs1	A	T	1: 144,247,933 (GRCm38)	S85T	probably damaging	Het
Samd9l	T	C	6: 3,372,725 (GRCm38)	E1512G	possibly damaging	Het
Sgsm1	C	T	5: 113,279,184 (GRCm38)	A127T	probably benign	Het
Shc1	A	G	3: 89,422,969 (GRCm38)	D70G	probably damaging	Het
Slc26a1	T	A	5: 108,673,523 (GRCm38)	T167S	probably benign	Het
Slc26a7	A	T	4: 14,593,873 (GRCm38)	Y81N	probably damaging	Het
Slc2a12	T	C	10: 22,702,016 (GRCm38)		probably benign	Het
Slc30a7	T	A	3: 115,990,140 (GRCm38)		probably null	Het
Slc44a5	T	C	3: 154,265,474 (GRCm38)	S654P	probably damaging	Het
Stard9	T	G	2: 120,696,999 (GRCm38)	S1246A	possibly damaging	Het
Stxbp5	A	T	10: 9,865,099 (GRCm38)	S116R	probably damaging	Het
Syvn1	C	T	19: 6,052,453 (GRCm38)	P517L	probably benign	Het
Tas2r105	T	C	6: 131,687,430 (GRCm38)	I12V	probably benign	Het
Tas2r121	A	G	6: 132,700,362 (GRCm38)	S216P	probably damaging	Het
Tcof1	T	C	18: 60,845,832 (GRCm38)	D48G	probably damaging	Het
Tgm3	C	T	2: 130,026,682 (GRCm38)		probably benign	Het
Tle2	T	C	10: 81,588,947 (GRCm38)	F667L	probably damaging	Het
Tnfaip3	C	A	10: 19,002,949 (GRCm38)	A704S	probably benign	Het
Trabd2b	A	G	4: 114,580,322 (GRCm38)	Q232R	probably benign	Het
Ttc28	T	A	5: 111,231,081 (GRCm38)	I1144N	probably damaging	Het
Ucp3	T	A	7: 100,479,541 (GRCm38)	C25*	probably null	Het
Ugt3a2	A	G	15: 9,370,150 (GRCm38)	D460G	probably damaging	Het
Ush1g	G	T	11: 115,318,868 (GRCm38)	R167S	possibly damaging	Het
Vav3	A	G	3: 109,647,679 (GRCm38)	N81S	possibly damaging	Het
Vmn2r108	A	T	17: 20,471,459 (GRCm38)	D267E	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
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
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'- AGATTCCACTGGGCTGTCAGGATG -3'
(R):5'- GCAAGGACTCAGGCTCACTGTTAAG -3'

Sequencing Primer
(F):5'- GATGCGCCACCCTTTAAGAAAC -3'
(R):5'- CGTTTATTCAGGAGCACAAGAC -3'

Posted On

2013-10-16