Mutagenetix > Incidental Mutations

Incidental Mutation 'R0426:Radil'

38637

Institutional Source

Beutler Lab

Gene Symbol

Radil

Ensembl Gene

ENSMUSG00000029576

Gene Name

Ras association and DIL domains

Synonyms

D930005D10Rik

MMRRC Submission

038628-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0426 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

142484839-142551098 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142497873 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 526 (Y526C)

Ref Sequence

ENSEMBL: ENSMUSP00000106412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063635] [ENSMUST00000085758] [ENSMUST00000110784] [ENSMUST00000110785]

Predicted Effect

probably damaging
Transcript: ENSMUST00000063635
AA Change: Y526C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064539
Gene: ENSMUSG00000029576
AA Change: Y526C

Domain	Start	End	E-Value	Type
RA	61	164	1.68e-15	SMART
Blast:FHA	265	332	2e-25	BLAST
low complexity region	344	354	N/A	INTRINSIC
low complexity region	550	560	N/A	INTRINSIC
DIL	634	743	6.19e-34	SMART
low complexity region	950	964	N/A	INTRINSIC
PDZ	979	1056	3.86e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000085758
AA Change: Y555C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082910
Gene: ENSMUSG00000029576
AA Change: Y555C

Domain	Start	End	E-Value	Type
RA	90	193	1.68e-15	SMART
Blast:FHA	294	361	2e-25	BLAST
low complexity region	373	383	N/A	INTRINSIC
low complexity region	579	589	N/A	INTRINSIC
DIL	663	772	6.19e-34	SMART
low complexity region	979	993	N/A	INTRINSIC
PDZ	1008	1085	3.86e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110784
AA Change: Y286C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106411
Gene: ENSMUSG00000029576
AA Change: Y286C

Domain	Start	End	E-Value	Type
Blast:FHA	25	92	3e-25	BLAST
low complexity region	104	114	N/A	INTRINSIC
low complexity region	310	320	N/A	INTRINSIC
DIL	394	503	6.19e-34	SMART
low complexity region	710	724	N/A	INTRINSIC
PDZ	739	816	3.86e-16	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110785
AA Change: Y526C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106412
Gene: ENSMUSG00000029576
AA Change: Y526C

Domain	Start	End	E-Value	Type
RA	61	164	1.68e-15	SMART
Blast:FHA	265	332	2e-25	BLAST
low complexity region	344	354	N/A	INTRINSIC
low complexity region	550	560	N/A	INTRINSIC
DIL	634	743	6.19e-34	SMART
low complexity region	973	987	N/A	INTRINSIC
PDZ	1002	1079	3.86e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139824

Meta Mutation Damage Score

0.3021

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

96% (86/90)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	C	T	5: 107,510,373	T1603I	probably damaging	Het
Abca8b	G	T	11: 109,955,027		probably benign	Het
Acadl	A	T	1: 66,841,646	F320L	probably damaging	Het
Acsbg1	T	C	9: 54,622,746	D222G	probably benign	Het
Anapc15	A	G	7: 101,898,033	T39A	probably benign	Het
Ano3	A	T	2: 110,661,174	V919E	probably damaging	Het
Arhgef12	T	C	9: 42,970,990		probably null	Het
Atad5	T	A	11: 80,112,832	I1091N	probably benign	Het
Atf1	A	T	15: 100,232,827	H26L	possibly damaging	Het
Atp10a	T	C	7: 58,784,734	M252T	probably benign	Het
Cd55	C	T	1: 130,448,372	R347H	probably benign	Het
Cdc27	A	C	11: 104,513,027		probably null	Het
Cdh9	G	A	15: 16,823,454		probably null	Het
Cdk11b	T	C	4: 155,642,512		probably benign	Het
Cep70	A	G	9: 99,297,684	D567G	probably benign	Het
Cep78	A	T	19: 15,970,970	Y382*	probably null	Het
Col9a2	T	C	4: 121,044,660		probably benign	Het
Cyp2d12	G	A	15: 82,558,963	D409N	probably benign	Het
Ddx39	A	G	8: 83,721,769	T217A	probably benign	Het
Dennd1b	T	A	1: 139,170,196	D733E	probably benign	Het
Dicer1	A	G	12: 104,702,542	S1294P	probably damaging	Het
Dnah3	T	C	7: 119,943,572	E3539G	probably benign	Het
Dnmbp	A	G	19: 43,852,436		probably benign	Het
Dysf	T	C	6: 84,149,757	L1332P	probably damaging	Het
F5	A	G	1: 164,182,840	D380G	probably damaging	Het
Fam160a2	A	C	7: 105,389,473	C186W	probably damaging	Het
Fam171a1	T	C	2: 3,225,396	V522A	probably benign	Het
Galr2	C	A	11: 116,281,691	A69D	probably damaging	Het
Grk2	T	C	19: 4,290,600		probably null	Het
Gtf3c1	A	T	7: 125,663,016	Y1119*	probably null	Het
Hgd	A	T	16: 37,588,685		probably benign	Het
Ildr2	G	T	1: 166,308,899	V436L	probably benign	Het
Intu	G	A	3: 40,675,305	C355Y	probably damaging	Het
Irf2bpl	G	T	12: 86,883,096	P268T	probably benign	Het
Jarid2	T	C	13: 44,840,882		probably null	Het
Jup	A	T	11: 100,372,401	M716K	probably benign	Het
Kank1	G	A	19: 25,411,473	V809I	probably damaging	Het
Kdm1b	T	A	13: 47,064,244		probably benign	Het
Kdm3a	C	T	6: 71,600,755	C687Y	probably damaging	Het
Kdm5d	T	A	Y: 942,437		probably benign	Het
Kifap3	T	A	1: 163,865,552		probably benign	Het
Macf1	T	A	4: 123,483,660	K1400*	probably null	Het
Majin	A	G	19: 6,212,117		probably benign	Het
Mb21d1	G	A	9: 78,435,738		probably benign	Het
Mctp1	A	G	13: 77,020,821	I846V	probably benign	Het
Mrgpra2b	T	A	7: 47,464,127	I286F	possibly damaging	Het
Neil3	T	G	8: 53,609,396		probably benign	Het
Nox3	G	T	17: 3,695,563	N23K	probably damaging	Het
Nt5c3	T	C	6: 56,883,812	K219E	probably benign	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr213	A	T	6: 116,540,485	N11Y	probably damaging	Het
Olfr389	T	A	11: 73,776,437	M297L	probably benign	Het
Olfr524	A	C	7: 140,202,116	F218C	possibly damaging	Het
Olfr548-ps1	T	A	7: 102,542,686	I250N	probably damaging	Het
Olfr954	T	C	9: 39,461,593	L54P	probably damaging	Het
Pacsin2	A	G	15: 83,379,795	V347A	possibly damaging	Het
Pcdhb7	A	T	18: 37,342,804	E331V	probably damaging	Het
Pcid2	A	C	8: 13,081,262		probably null	Het
Pcsk9	T	C	4: 106,450,077	D323G	possibly damaging	Het
Pdhb	T	C	14: 8,169,801	E203G	probably damaging	Het
Phlpp2	A	G	8: 109,928,463	Y630C	probably benign	Het
Pidd1	C	T	7: 141,439,133	A812T	probably damaging	Het
Plau	G	A	14: 20,842,314	R389H	probably benign	Het
Plekhg6	G	A	6: 125,364,629		probably null	Het
Ppox	T	C	1: 171,277,749	Y321C	probably damaging	Het
Pxdn	A	G	12: 29,987,066	N281S	possibly damaging	Het
Pycrl	A	T	15: 75,918,388	M138K	probably benign	Het
Ranbp3	C	A	17: 56,707,169	D233E	probably benign	Het
Rhpn1	A	G	15: 75,711,872	Q402R	possibly damaging	Het
Sec23b	T	A	2: 144,568,612		probably benign	Het
Sel1l2	A	T	2: 140,240,912	L602*	probably null	Het
Sema5b	G	A	16: 35,646,355	G209D	probably damaging	Het
Svep1	T	C	4: 58,073,333	Y1992C	possibly damaging	Het
Syncrip	T	A	9: 88,456,259		probably benign	Het
Synj1	G	T	16: 90,967,354	A65E	probably damaging	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tecrl	T	C	5: 83,354,763		probably benign	Het
Tenm4	G	T	7: 96,777,851	G698C	probably damaging	Het
Tmem209	G	A	6: 30,491,182	L259F	probably damaging	Het
Tmem247	G	A	17: 86,918,503	E124K	possibly damaging	Het
Tnks2	C	A	19: 36,852,821	A218E	probably damaging	Het
Tppp	T	A	13: 74,021,311	F57I	probably damaging	Het
Trim36	A	G	18: 46,172,525	W452R	probably damaging	Het
Vars2	A	T	17: 35,664,584	V262E	probably damaging	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Zfp516	G	T	18: 82,955,772	A32S	probably benign	Het
Zfy2	G	T	Y: 2,107,348	L429I	possibly damaging	Het

Other mutations in Radil

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Radil	APN	5	142497922	missense	probably damaging	0.99
IGL01359:Radil	APN	5	142543713	missense	probably damaging	0.98
IGL01714:Radil	APN	5	142543397	unclassified	probably benign
IGL02086:Radil	APN	5	142543821	missense	probably benign	0.28
IGL02250:Radil	APN	5	142543774	missense	probably damaging	1.00
IGL02296:Radil	APN	5	142506463	missense	probably benign	0.10
IGL02890:Radil	APN	5	142543708	missense	probably damaging	1.00
IGL02978:Radil	APN	5	142494919	missense	probably benign	0.00
IGL03131:Radil	APN	5	142495342	missense	probably damaging	1.00
R0362:Radil	UTSW	5	142543827	missense	probably benign	0.00
R0389:Radil	UTSW	5	142543471	missense	probably damaging	0.98
R1753:Radil	UTSW	5	142495336	missense	probably damaging	1.00
R2168:Radil	UTSW	5	142506963	missense	probably benign	0.00
R3055:Radil	UTSW	5	142495406	missense	possibly damaging	0.77
R3177:Radil	UTSW	5	142506856	missense	probably damaging	1.00
R3277:Radil	UTSW	5	142506856	missense	probably damaging	1.00
R3851:Radil	UTSW	5	142506997	missense	probably damaging	1.00
R4043:Radil	UTSW	5	142494233	missense	probably benign	0.31
R4245:Radil	UTSW	5	142543791	missense	probably damaging	1.00
R4367:Radil	UTSW	5	142494805	missense	probably benign	0.06
R4697:Radil	UTSW	5	142486801	missense	probably benign
R4798:Radil	UTSW	5	142485163	missense	probably benign	0.39
R4948:Radil	UTSW	5	142485239	missense	probably benign	0.02
R5407:Radil	UTSW	5	142508215	missense	probably damaging	1.00
R5784:Radil	UTSW	5	142487513	missense	possibly damaging	0.88
R5918:Radil	UTSW	5	142487602	missense	probably benign	0.43
R5943:Radil	UTSW	5	142485458	missense	probably damaging	1.00
R6112:Radil	UTSW	5	142543644	missense	probably damaging	1.00
R6147:Radil	UTSW	5	142497940	missense	probably benign	0.01
R6174:Radil	UTSW	5	142487115	missense	probably benign
R6241:Radil	UTSW	5	142494942	missense	probably damaging	1.00
R6874:Radil	UTSW	5	142506802	missense	probably damaging	1.00
R6881:Radil	UTSW	5	142486917	missense	probably benign	0.00
R7056:Radil	UTSW	5	142494354	nonsense	probably null
R7134:Radil	UTSW	5	142485549	missense	probably damaging	1.00
R7167:Radil	UTSW	5	142485505	splice site	probably null
R7374:Radil	UTSW	5	142485480	missense	probably damaging	1.00
R7482:Radil	UTSW	5	142486763	missense	probably benign
R7607:Radil	UTSW	5	142494795	missense	probably damaging	0.98
R7607:Radil	UTSW	5	142506613	missense	probably damaging	0.99
R7777:Radil	UTSW	5	142543548	missense	probably damaging	1.00
R7779:Radil	UTSW	5	142487565	missense	probably benign	0.03
R8047:Radil	UTSW	5	142494940	missense	probably damaging	1.00
R8123:Radil	UTSW	5	142487620	missense	probably damaging	0.99
R8418:Radil	UTSW	5	142494921	missense	probably benign	0.23
R8525:Radil	UTSW	5	142488501	missense	probably damaging	1.00
X0058:Radil	UTSW	5	142487514	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- CCCGTAATGCACTAATGCTGGCTTC -3'
(R):5'- AGTGTCCCATGAGATGACTGTCCC -3'

Sequencing Primer
(F):5'- CATGTGTGATCCCCAAATGGC -3'
(R):5'- AGATGACTGTCCCCGTGC -3'

Posted On

2013-05-23