Mutagenetix > Incidental Mutations

Incidental Mutation 'R4697:Radil'

355767

Institutional Source

Beutler Lab

Gene Symbol

Radil

Ensembl Gene

ENSMUSG00000029576

Gene Name

Ras association and DIL domains

Synonyms

D930005D10Rik

MMRRC Submission

041947-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4697 (G1)

Quality Score

144

Status

Validated

Chromosome

Chromosomal Location

142484839-142551098 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 142486801 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 951 (D951E)

Ref Sequence

ENSEMBL: ENSMUSP00000106412 (fasta)

Gene Model

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

AlphaFold

Q69Z89

Predicted Effect

probably benign
Transcript: ENSMUST00000063635
AA Change: D928E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000064539
Gene: ENSMUSG00000029576
AA Change: D928E

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 benign
Transcript: ENSMUST00000085758
AA Change: D957E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000082910
Gene: ENSMUSG00000029576
AA Change: D957E

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 benign
Transcript: ENSMUST00000110784
AA Change: D688E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106411
Gene: ENSMUSG00000029576
AA Change: D688E

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 benign
Transcript: ENSMUST00000110785
AA Change: D951E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106412
Gene: ENSMUSG00000029576
AA Change: D951E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150380

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

96% (75/78)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	A	7: 118,791,448	I455N	probably damaging	Het
A2m	T	C	6: 121,638,284	M1T	probably null	Het
Aatf	T	A	11: 84,449,138	D449V	probably damaging	Het
Acbd3	T	A	1: 180,721,944		probably benign	Het
BC005561	A	G	5: 104,522,240	K1543E	probably benign	Het
Bicc1	T	A	10: 70,953,484	I366F	possibly damaging	Het
Ccdc74a	T	C	16: 17,649,749	S184P	possibly damaging	Het
Cntn4	T	C	6: 106,525,485	V401A	probably damaging	Het
Cux2	T	C	5: 121,873,753	T540A	probably damaging	Het
Disp2	G	T	2: 118,791,684	E966*	probably null	Het
Dpp7	A	G	2: 25,354,919	Y209H	probably benign	Het
Dstyk	T	A	1: 132,449,487	F277Y	probably damaging	Het
Dtx1	A	T	5: 120,694,408		probably null	Het
Ear-ps2	G	A	14: 44,047,060		noncoding transcript	Het
Ednra	T	C	8: 77,664,995	H422R	probably benign	Het
Erlec1	T	A	11: 30,952,640	I67F	probably benign	Het
Fam161b	G	A	12: 84,348,558		probably benign	Het
Gata5	A	T	2: 180,327,379	C345*	probably null	Het
Glmp	T	C	3: 88,328,274	V47A	probably damaging	Het
Gm9762	T	A	3: 78,966,550		noncoding transcript	Het
Gnas	A	T	2: 174,298,080	D14V	probably damaging	Het
Gnl3	T	C	14: 31,017,329	S53G	probably damaging	Het
Grhl3	C	T	4: 135,548,466	V527M	probably damaging	Het
Hoxd10	T	A	2: 74,694,187	L281*	probably null	Het
Kif16b	T	G	2: 142,690,694	Y1175S	probably benign	Het
Kif2b	A	G	11: 91,576,846	S204P	probably benign	Het
Klhl40	T	A	9: 121,778,734	I320N	probably damaging	Het
Ksr2	G	A	5: 117,708,147	R693Q	probably damaging	Het
Mis12	A	G	11: 71,025,326	K62E	possibly damaging	Het
Mlc1	A	G	15: 88,974,777	C102R	probably damaging	Het
Muc5b	T	C	7: 141,857,361	I1348T	unknown	Het
Myh7b	A	G	2: 155,629,322	E1130G	probably damaging	Het
Nat8f4	T	C	6: 85,901,386	T52A	probably benign	Het
Nxpe2	C	A	9: 48,320,521	V379L	probably benign	Het
Olfr1231	C	A	2: 89,302,902	S230I	possibly damaging	Het
Olfr1231	T	A	2: 89,302,903	S230C	probably damaging	Het
Olfr1448	C	T	19: 12,919,934	C125Y	probably damaging	Het
Olfr1465	A	T	19: 13,313,717	D189E	probably benign	Het
Olfr288	G	A	15: 98,186,868	R310W	probably damaging	Het
Pcdhga7	A	T	18: 37,717,208	Y756F	probably damaging	Het
Pcsk6	T	A	7: 65,959,241	Y284N	probably damaging	Het
Pdcd11	T	C	19: 47,126,347	V1367A	possibly damaging	Het
Postn	T	A	3: 54,375,071	N484K	probably damaging	Het
Prkd3	C	T	17: 78,961,171	V572I	probably benign	Het
Qser1	T	C	2: 104,787,183	S1005G	probably benign	Het
Ripk1	C	T	13: 34,027,942	R352*	probably null	Het
Sacs	T	C	14: 61,212,747	F4081L	probably benign	Het
Sbf1	A	G	15: 89,315,085	V11A	possibly damaging	Het
Sgip1	T	A	4: 102,934,587	F536I	probably damaging	Het
Slc45a1	A	G	4: 150,638,284	L381P	probably damaging	Het
Smarcad1	C	T	6: 65,052,641	P71L	probably benign	Het
Spns1	T	A	7: 126,377,037	D14V	probably damaging	Het
Sv2c	T	A	13: 95,986,018	I417F	possibly damaging	Het
Tas2r113	T	A	6: 132,893,516	M169K	probably benign	Het
Tgm1	A	T	14: 55,705,681	N567K	probably benign	Het
Tln2	C	T	9: 67,395,461	R76Q	probably damaging	Het
Trpm6	T	C	19: 18,853,791	V1340A	probably benign	Het
Tspan18	A	T	2: 93,312,030		probably null	Het
Txndc11	C	T	16: 11,084,314	V679I	probably damaging	Het
Usf1	G	T	1: 171,416,964	G144V	possibly damaging	Het
Vmn1r59	T	C	7: 5,454,452	Y103C	probably damaging	Het
Vmn2r23	A	T	6: 123,741,826	I713F	probably damaging	Het
Vmn2r79	A	T	7: 87,037,960	I850F	probably damaging	Het
Wdr90	C	T	17: 25,855,363	R676H	probably benign	Het
Zfp867	G	A	11: 59,463,661	R281W	probably damaging	Het
Zfp939	T	C	7: 39,472,942		noncoding transcript	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
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
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
R8708:Radil	UTSW	5	142485449	missense	probably damaging	1.00
R8827:Radil	UTSW	5	142508104	missense	probably damaging	1.00
R9181:Radil	UTSW	5	142494967	missense	probably damaging	1.00
R9315:Radil	UTSW	5	142488499	missense	probably damaging	0.98
X0058:Radil	UTSW	5	142487514	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- GACTGTCTCTCTAAGGCACTAAGG -3'
(R):5'- GCAGAGTTGCTGTTGAAACTG -3'

Sequencing Primer
(F):5'- TCTCTCTAAGGCACTAAGGAGCATG -3'
(R):5'- TCTTCCTGTCACGGGAGC -3'

Posted On

2015-10-21