Mutagenetix > Incidental Mutation

Incidental Mutation 'R3277:Radil'

258256

Institutional Source

Beutler Lab

Gene Symbol

Radil

Ensembl Gene

ENSMUSG00000029576

Gene Name

Ras association and DIL domains

Synonyms

D930005D10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3277 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

142484839-142551098 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142506856 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 339 (L339P)

Ref Sequence

ENSEMBL: ENSMUSP00000106412 (fasta)

Gene Model

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

AlphaFold

Q69Z89

Predicted Effect

probably benign
Transcript: ENSMUST00000063635
AA Change: L339P

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000064539
Gene: ENSMUSG00000029576
AA Change: L339P

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: L368P

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

SMART Domains

Protein: ENSMUSP00000082910
Gene: ENSMUSG00000029576
AA Change: L368P

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: L99P

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

SMART Domains

Protein: ENSMUSP00000106411
Gene: ENSMUSG00000029576
AA Change: L99P

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: L339P

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

SMART Domains

Protein: ENSMUSP00000106412
Gene: ENSMUSG00000029576
AA Change: L339P

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,472,100	R553G	possibly damaging	Het
Adarb2	A	G	13: 8,752,627	N646S	probably damaging	Het
Adcy8	C	T	15: 64,699,159	G1242S	probably benign	Het
Ano9	T	A	7: 141,104,124	T543S	probably damaging	Het
Btnl10	A	G	11: 58,922,390	K282E	probably benign	Het
Btnl9	T	C	11: 49,169,676	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,067,652	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,303,192	S225T	probably benign	Het
Clca4b	T	C	3: 144,911,359	I843M	probably benign	Het
Cntn4	G	A	6: 106,437,964		probably null	Het
Cyp4f18	T	C	8: 71,993,200	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993	R767L	probably damaging	Het
Dgkb	G	A	12: 38,084,217	V41M	probably damaging	Het
Duox1	T	C	2: 122,340,116	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211		probably null	Het
Fbxw2	T	C	2: 34,822,750	T100A	probably benign	Het
Fcgbp	C	A	7: 28,091,661	H782Q	probably damaging	Het
Flg2	A	T	3: 93,214,888	Q1455L	unknown	Het
Frrs1	T	C	3: 116,899,224	F49S	probably damaging	Het
Gli3	A	T	13: 15,725,982	Q1318L	probably benign	Het
Gm5592	A	G	7: 41,288,380	E362G	probably benign	Het
Gm7104	A	T	12: 88,285,728		noncoding transcript	Het
Gpatch2l	A	G	12: 86,244,315	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,437,510	H46R	probably damaging	Het
Herc2	T	C	7: 56,153,428	V2175A	probably benign	Het
Hey1	T	C	3: 8,664,891	S169G	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hlf	T	C	11: 90,345,835	K199E	probably damaging	Het
Hpgd	C	A	8: 56,298,413	A92E	probably damaging	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Itgad	C	A	7: 128,190,981	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542	D409G	probably damaging	Het
Kif2a	A	G	13: 106,976,756	I455T	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,908,625	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,276,480	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,359,278		probably null	Het
Mag	C	T	7: 30,901,648		probably null	Het
Mdh1b	G	A	1: 63,711,531	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,478,788	T282I	possibly damaging	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Olfr1231	C	T	2: 89,303,218	V125M	possibly damaging	Het
Olfr1412	A	G	1: 92,588,813	N161S	probably benign	Het
Olfr552	T	C	7: 102,604,576	V74A	possibly damaging	Het
Padi6	A	G	4: 140,735,389	L307P	probably damaging	Het
Parp9	T	C	16: 35,948,208	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,113,264	F963L	probably damaging	Het
Pwp1	C	T	10: 85,882,079	L294F	probably benign	Het
Raver1	G	A	9: 21,079,277	P316S	possibly damaging	Het
Rell1	A	G	5: 63,926,987		probably null	Het
Rxrg	A	G	1: 167,635,700	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,549,879	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,232	F99L	possibly damaging	Het
Unc13a	A	C	8: 71,629,695	C1642G	probably benign	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Wrn	A	G	8: 33,317,554	M292T	probably damaging	Het
Zfp423	A	G	8: 87,782,331	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,231,346	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,277,270	T51A	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
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
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
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
R9462:Radil	UTSW	5	142485465	missense	probably damaging	1.00
R9545:Radil	UTSW	5	142506637	missense	probably benign
R9694:Radil	UTSW	5	142487623	missense	probably damaging	1.00
X0058:Radil	UTSW	5	142487514	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- TCAAACTCCAGGAGCAGTGAC -3'
(R):5'- TGGTGTACGTGCTCAGCAAG -3'

Sequencing Primer
(F):5'- CCGGACCACAGCAGCAG -3'
(R):5'- TACGTGCTCAGCAAGGAACG -3'

Posted On

2015-01-23