Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00095:Radil'

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1605

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Radil

Ensembl Gene

ENSMUSG00000029576

Gene Name

Ras association and DIL domains

Synonyms

D930005D10Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00095

Quality Score

Status

Chromosome

Chromosomal Location

142484839-142551098 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142497922 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 510 (S510P)

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: S510P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000064539
Gene: ENSMUSG00000029576
AA Change: S510P

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: S539P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000082910
Gene: ENSMUSG00000029576
AA Change: S539P

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: S270P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106411
Gene: ENSMUSG00000029576
AA Change: S270P

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: S510P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106412
Gene: ENSMUSG00000029576
AA Change: S510P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cadm2	A	T	16: 66,882,751	Y65N	probably damaging	Het
Catsperg2	C	A	7: 29,698,058	C1042F	possibly damaging	Het
Cluh	T	C	11: 74,664,064	V776A	probably benign	Het
Crxos	T	A	7: 15,898,618	C116*	probably null	Het
Csmd1	A	G	8: 16,009,297		probably benign	Het
Cubn	C	A	2: 13,491,820		probably benign	Het
Exoc2	A	G	13: 30,820,626	I858T	probably benign	Het
Fam105a	A	G	15: 27,658,116	S273P	possibly damaging	Het
Frmpd1	C	A	4: 45,279,456	T727K	possibly damaging	Het
Gm3139	T	C	5: 94,537,804	L441P	probably damaging	Het
Hapln3	T	C	7: 79,121,983	T53A	probably damaging	Het
Hnrnpul1	T	A	7: 25,726,154	Q584L	possibly damaging	Het
Ikbkb	A	T	8: 22,706,111	F26I	probably damaging	Het
Il31ra	A	T	13: 112,547,478	I120N	possibly damaging	Het
Itih1	C	T	14: 30,929,821	V855M	probably benign	Het
Krtap4-16	A	G	11: 99,851,206	S123P	possibly damaging	Het
Large1	C	T	8: 72,837,497	R547Q	probably damaging	Het
Madd	A	G	2: 91,175,766		probably benign	Het
Mark1	A	G	1: 184,898,603	V770A	probably damaging	Het
Mpeg1	T	C	19: 12,462,710	F511L	probably benign	Het
Mrgpra9	A	G	7: 47,235,091	V276A	possibly damaging	Het
Nav3	T	C	10: 109,841,733	T666A	probably damaging	Het
Ndufa8	T	C	2: 36,044,455	D37G	probably damaging	Het
Nlrx1	A	G	9: 44,253,279	L956P	probably damaging	Het
Nr5a1	T	C	2: 38,708,341	E148G	probably benign	Het
Olfr310	T	C	7: 86,269,669	N40S	probably damaging	Het
Olfr509	A	T	7: 108,645,836	F247I	possibly damaging	Het
Patj	A	C	4: 98,535,562	Q1184P	possibly damaging	Het
Phf20l1	A	G	15: 66,629,035	T619A	probably benign	Het
Pla2g6	T	C	15: 79,289,241	T643A	probably damaging	Het
Spock1	A	G	13: 57,587,739		probably benign	Het
Stag3	C	T	5: 138,299,138	T577M	probably damaging	Het
Tap2	C	T	17: 34,215,378	R613C	probably benign	Het
Tnn	A	G	1: 160,125,451	V673A	possibly damaging	Het
Trrap	T	C	5: 144,779,974		probably benign	Het
Vmn2r28	T	C	7: 5,488,069	D393G	probably benign	Het
Zbtb48	T	C	4: 152,021,394	H418R	probably damaging	Het
Zc3h12d	T	C	10: 7,862,467	V179A	probably damaging	Het

Other mutations in Radil

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0426:Radil	UTSW	5	142497873	missense	probably damaging	1.00
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

Posted On

2011-07-12