Mutagenetix > Incidental Mutations

Incidental Mutation 'R3851:Radil'

275917

Institutional Source

Beutler Lab

Gene Symbol

Radil

Ensembl Gene

ENSMUSG00000029576

Gene Name

Ras association and DIL domains

Synonyms

D930005D10Rik

MMRRC Submission

040899-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3851 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

142484839-142551098 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142506997 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 292 (D292G)

Ref Sequence

ENSEMBL: ENSMUSP00000106412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063635] [ENSMUST00000085758] [ENSMUST00000110784] [ENSMUST00000110785] [ENSMUST00000139278]

Predicted Effect

probably damaging
Transcript: ENSMUST00000063635
AA Change: D292G

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

SMART Domains

Protein: ENSMUSP00000064539
Gene: ENSMUSG00000029576
AA Change: D292G

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: D321G

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

SMART Domains

Protein: ENSMUSP00000082910
Gene: ENSMUSG00000029576
AA Change: D321G

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: D52G

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

SMART Domains

Protein: ENSMUSP00000106411
Gene: ENSMUSG00000029576
AA Change: D52G

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: D292G

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

SMART Domains

Protein: ENSMUSP00000106412
Gene: ENSMUSG00000029576
AA Change: D292G

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

probably benign
Transcript: ENSMUST00000139278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139824

Meta Mutation Damage Score

0.5848

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	G	A	7: 101,390,165	W544*	probably null	Het
AY358078	A	G	14: 51,805,553	T233A	unknown	Het
Bcl9	G	A	3: 97,209,653	P575L	probably damaging	Het
Calcr	T	C	6: 3,693,735	Y353C	probably damaging	Het
Cry1	C	A	10: 85,146,499	A328S	probably benign	Het
Dclre1a	A	T	19: 56,541,507	N799K	probably damaging	Het
Dnm3	A	T	1: 162,321,127		probably null	Het
Dock9	A	T	14: 121,629,086		probably null	Het
Dpysl4	C	T	7: 139,100,935	T575M	probably damaging	Het
Drc7	C	T	8: 95,061,836	Q276*	probably null	Het
Dzip3	T	C	16: 48,950,013	T389A	possibly damaging	Het
Fam196a	A	G	7: 134,884,526	V432A	probably benign	Het
Flnc	T	A	6: 29,453,719	L1801Q	probably damaging	Het
Fmo9	A	G	1: 166,663,367	L463P	probably benign	Het
Fnip2	G	C	3: 79,462,157	H1074D	probably damaging	Het
Golga2	A	G	2: 32,305,611	E806G	probably benign	Het
H2-Q5	T	A	17: 35,394,139	M5K	unknown	Het
Il27ra	C	T	8: 84,040,688	E169K	probably benign	Het
Itpkc	A	T	7: 27,227,612	N292K	probably benign	Het
Lhfpl3	G	A	5: 22,775,987		probably benign	Het
Map4k3	A	G	17: 80,644,323		probably benign	Het
Mas1	C	G	17: 12,841,993	S181T	probably benign	Het
Ntn1	C	G	11: 68,385,793	D110H	probably damaging	Het
Nubpl	T	C	12: 52,144,027	M65T	probably damaging	Het
Olfr813	A	C	10: 129,857,147	M210L	probably benign	Het
Parp14	A	G	16: 35,853,748	I1042T	possibly damaging	Het
Pcdh15	C	A	10: 74,631,686	S1779Y	probably damaging	Het
Pgm5	C	T	19: 24,820,203	R205Q	probably damaging	Het
Rbp3	C	A	14: 33,955,507	H471N	probably damaging	Het
Rgs14	T	A	13: 55,379,614	L221Q	possibly damaging	Het
Rrm2	G	T	12: 24,708,599	A47S	probably benign	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slco4a1	C	T	2: 180,464,091	T22M	probably benign	Het
Sult2b1	G	T	7: 45,730,037		probably benign	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Ttn	G	T	2: 76,751,334	L23072I	possibly damaging	Het
Zfp521	T	C	18: 13,717,751		probably benign	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
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
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
X0058:Radil	UTSW	5	142487514	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- GCAGCAGGTAATAGAGACCC -3'
(R):5'- ACCAAGGTCAAGGGTTACTG -3'

Sequencing Primer
(F):5'- ACCCAGGGAGAGCAGGTC -3'
(R):5'- TGTGTAGCCAGCTGCAGGAAC -3'

Posted On

2015-04-06