Mutagenetix > Incidental Mutation

Incidental Mutation 'R5199:Urb1'

400635

Institutional Source

Beutler Lab

Gene Symbol

Urb1

Ensembl Gene

ENSMUSG00000039929

Gene Name

URB1 ribosome biogenesis 1 homolog (S. cerevisiae)

Synonyms

5730405K23Rik, 4921511H13Rik

MMRRC Submission

042775-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5199 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90548415-90607301 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90589636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 382 (T382A)

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: T382A

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114717
Gene: ENSMUSG00000039929
AA Change: T382A

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: ENSMUST00000142955

Meta Mutation Damage Score

0.1079

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	T	C	3: 59,843,906 (GRCm39)	L200P	probably damaging	Het
Adam1a	T	C	5: 121,659,215 (GRCm39)	E26G	probably benign	Het
Adar	T	A	3: 89,653,251 (GRCm39)	M797K	probably damaging	Het
Amdhd1	A	T	10: 93,361,847 (GRCm39)	C352S	probably damaging	Het
AW554918	C	A	18: 25,473,356 (GRCm39)	R387S	probably damaging	Het
Cabp1	A	G	5: 115,324,102 (GRCm39)	V5A	possibly damaging	Het
Carmil1	A	G	13: 24,295,853 (GRCm39)	L387P	probably damaging	Het
Cds2	T	A	2: 132,140,403 (GRCm39)	H200Q	probably damaging	Het
Cep170b	T	A	12: 112,710,581 (GRCm39)	L1470Q	probably damaging	Het
Cnnm1	A	G	19: 43,483,425 (GRCm39)	D956G	possibly damaging	Het
Cnot8	C	T	11: 58,006,100 (GRCm39)	Q210*	probably null	Het
Cpne8	G	A	15: 90,532,812 (GRCm39)	T65I	probably benign	Het
Crygn	A	G	5: 24,961,156 (GRCm39)	V50A	probably damaging	Het
Cxcr4	A	G	1: 128,517,283 (GRCm39)	V126A	probably damaging	Het
Cyp4f15	A	G	17: 32,921,346 (GRCm39)	D464G	probably benign	Het
Dapp1	C	T	3: 137,687,146 (GRCm39)	S12N	probably benign	Het
Dhps	G	A	8: 85,800,035 (GRCm39)	G162R	probably damaging	Het
Dsp	T	G	13: 38,376,878 (GRCm39)	Y1554*	probably null	Het
Etl4	G	T	2: 20,748,853 (GRCm39)	R397L	probably damaging	Het
Ezh2	C	T	6: 47,528,659 (GRCm39)	C291Y	probably benign	Het
Gbp9	T	C	5: 105,231,678 (GRCm39)	S303G	probably benign	Het
Gm11444	A	C	11: 85,738,845 (GRCm39)	S83A	unknown	Het
Gpat4	A	G	8: 23,672,712 (GRCm39)	V46A	possibly damaging	Het
Haus6	T	C	4: 86,501,222 (GRCm39)	D883G	possibly damaging	Het
Hinfp	T	C	9: 44,207,689 (GRCm39)	E439G	probably benign	Het
Ifna14	T	A	4: 88,489,599 (GRCm39)	Y146F	probably damaging	Het
Igkv3-3	A	T	6: 70,664,488 (GRCm39)	Y110F	probably damaging	Het
Kansl2-ps	A	G	7: 72,322,942 (GRCm39)		noncoding transcript	Het
Klrh1	T	A	6: 129,752,781 (GRCm39)	Y8F	possibly damaging	Het
Mcmdc2	T	C	1: 9,990,660 (GRCm39)	V279A	probably benign	Het
Mug2	T	A	6: 122,017,619 (GRCm39)	V452D	probably benign	Het
Ndufb3	C	G	1: 58,630,281 (GRCm39)		probably benign	Het
Oas1d	G	T	5: 121,057,208 (GRCm39)	K271N	probably benign	Het
Or4c110	T	A	2: 88,832,107 (GRCm39)	H175L	possibly damaging	Het
Or5ac21	T	A	16: 59,124,103 (GRCm39)	F196I	probably benign	Het
Or9g3	A	G	2: 85,590,558 (GRCm39)	L54P	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcnt	T	A	10: 76,254,378 (GRCm39)	H817L	probably benign	Het
Per3	G	T	4: 151,097,352 (GRCm39)	S724R	probably benign	Het
Phlpp1	T	A	1: 106,101,124 (GRCm39)	V464E	probably damaging	Het
Psme4	A	G	11: 30,803,272 (GRCm39)	E38G	probably benign	Het
Qtrt2	T	C	16: 43,687,788 (GRCm39)	N264S	probably benign	Het
Ranbp2	G	A	10: 58,300,265 (GRCm39)	R557H	probably benign	Het
Rptor	T	A	11: 119,494,642 (GRCm39)	S3T	probably benign	Het
Saxo1	T	A	4: 86,406,019 (GRCm39)	Y60F	probably damaging	Het
St3gal1	A	G	15: 66,985,564 (GRCm39)	V30A	probably benign	Het
Tmem245	G	A	4: 56,925,149 (GRCm39)	S324L	probably benign	Het
Topbp1	A	G	9: 103,223,871 (GRCm39)		probably benign	Het
Vmn1r178	A	T	7: 23,593,814 (GRCm39)	L214F	probably benign	Het
Vmn2r82	G	A	10: 79,231,921 (GRCm39)	C640Y	probably damaging	Het
Vsx2	A	G	12: 84,639,984 (GRCm39)	D281G	probably benign	Het
Zfp804b	A	T	5: 6,820,013 (GRCm39)	C1017S	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
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
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'- CCATGGTCTCCAATACCCTG -3'
(R):5'- ACTGTGTGTCTCTGAAAGTGAC -3'

Sequencing Primer
(F):5'- ATACCCTGTCCCTGAGCCAG -3'
(R):5'- CTCTGAAAGTGACTTCAGTGCTCAG -3'

Posted On

2016-07-06