Mutagenetix > Incidental Mutations

Incidental Mutation 'R6147:Radil'

488938

Institutional Source

Beutler Lab

Gene Symbol

Radil

Ensembl Gene

ENSMUSG00000029576

Gene Name

Ras association and DIL domains

Synonyms

D930005D10Rik

MMRRC Submission

044294-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6147 (G1)

Quality Score

196.009

Status

Not validated

Chromosome

Chromosomal Location

142484839-142551098 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 142497940 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 264 (H264Y)

Ref Sequence

ENSEMBL: ENSMUSP00000106411 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000063635
AA Change: H504Y

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

SMART Domains

Protein: ENSMUSP00000064539
Gene: ENSMUSG00000029576
AA Change: H504Y

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: H533Y

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

SMART Domains

Protein: ENSMUSP00000082910
Gene: ENSMUSG00000029576
AA Change: H533Y

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: H264Y

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

SMART Domains

Protein: ENSMUSP00000106411
Gene: ENSMUSG00000029576
AA Change: H264Y

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: H504Y

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000106412
Gene: ENSMUSG00000029576
AA Change: H504Y

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

1x: 99.8%
3x: 99.3%
10x: 97.1%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	G	12: 55,379,308	Y168C	probably damaging	Het
Acmsd	C	T	1: 127,729,420		probably benign	Het
Acsf3	T	A	8: 122,781,474	D236E	probably damaging	Het
Aqp1	G	T	6: 55,336,610	E40D	probably benign	Het
Arfgef2	A	G	2: 166,871,495	D1272G	probably damaging	Het
Arfip1	A	G	3: 84,529,178	V97A	probably benign	Het
Atp6v1b2	T	A	8: 69,102,482	Y165*	probably null	Het
BC051142	T	C	17: 34,418,923	S31P	possibly damaging	Het
Bclaf1	T	A	10: 20,323,425	D189E	possibly damaging	Het
Camsap2	G	A	1: 136,345,400	T13M	probably damaging	Het
Cntn5	T	A	9: 10,012,889	Y297F	probably damaging	Het
Cntnap5b	G	A	1: 100,050,781	C174Y	probably damaging	Het
Cntrl	A	C	2: 35,165,733	D1213A	possibly damaging	Het
Comtd1	C	A	14: 21,848,815	A20S	probably damaging	Het
Cspg4	A	T	9: 56,888,772	R1264W	probably damaging	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dlgap2	T	A	8: 14,727,294	C180S	probably benign	Het
Ednra	C	T	8: 77,667,322		probably benign	Het
Ephb6	A	T	6: 41,616,781	S533C	probably damaging	Het
Fndc1	A	T	17: 7,753,762		probably null	Het
Gif	G	A	19: 11,747,572		probably benign	Het
Gm11639	T	C	11: 104,967,740	V3875A	unknown	Het
Gm12185	A	G	11: 48,915,890	I158T	probably benign	Het
Gm14325	A	T	2: 177,832,807	C161S	probably damaging	Het
Gm17677	A	T	9: 35,742,110	Y70F	possibly damaging	Het
Gm17677	A	G	9: 35,742,232	T111A	possibly damaging	Het
Ighv9-1	T	A	12: 114,094,220	Q20L	probably damaging	Het
Khnyn	G	C	14: 55,887,603	S438T	probably damaging	Het
Krt9	T	C	11: 100,188,839	S576G	unknown	Het
Lrriq4	A	T	3: 30,659,079	N443I	probably damaging	Het
Luzp1	A	G	4: 136,541,063	Y199C	probably damaging	Het
Map2k3	T	A	11: 60,949,950	Y268*	probably null	Het
Men1	T	A	19: 6,337,242	D248E	probably damaging	Het
Mfsd4b2	A	T	10: 39,921,577	C261S	probably benign	Het
Mpeg1	T	G	19: 12,462,894	I572S	probably damaging	Het
Mrgprb2	A	G	7: 48,552,365	V204A	possibly damaging	Het
Mycbp2	A	T	14: 103,155,509	C805*	probably null	Het
Nphs2	A	T	1: 156,318,726	K91*	probably null	Het
Obox3	A	G	7: 15,626,001	S248P	probably damaging	Het
Olfr1054	A	T	2: 86,332,500	N285K	probably damaging	Het
Olfr109	T	C	17: 37,466,539	I111T	probably benign	Het
Olfr1152	C	T	2: 87,868,717	T242I	probably benign	Het
Otogl	G	A	10: 107,777,117		silent	Het
Pan3	T	C	5: 147,548,283		probably benign	Het
Pcdhb5	T	A	18: 37,320,726	L53Q	probably damaging	Het
Pcdhb9	G	T	18: 37,402,441	R496L	possibly damaging	Het
Peg10	C	T	6: 4,754,499		probably benign	Het
Plce1	A	G	19: 38,702,037	K722E	probably damaging	Het
Plch1	A	G	3: 63,722,881	S489P	probably damaging	Het
Plekhg3	T	C	12: 76,565,211	V362A	probably damaging	Het
Ranbp2	C	A	10: 58,479,428	T1990K	probably damaging	Het
Rnf207	T	C	4: 152,315,655	D192G	probably damaging	Het
Ryr1	A	T	7: 29,085,914	F1784Y	possibly damaging	Het
Set	T	A	2: 30,066,824	S2T	probably benign	Het
Slc26a2	T	A	18: 61,201,685	Y232F	probably damaging	Het
Sntb1	T	A	15: 55,648,010	M393L	probably benign	Het
Stx16	A	G	2: 174,090,687	T18A	probably damaging	Het
Stxbp5	A	T	10: 9,808,472	S585T	possibly damaging	Het
Sult2a7	T	C	7: 14,465,163	E313G	probably damaging	Het
Tbck	A	G	3: 132,694,446	K86R	probably benign	Het
Tom1	A	T	8: 75,054,692	Q255L	possibly damaging	Het
Trbv4	A	G	6: 41,059,703	Y54C	probably damaging	Het
Trim34a	A	T	7: 104,261,191	Q400L	probably damaging	Het
Trim42	G	T	9: 97,363,329	H473N	probably benign	Het
Tshr	T	A	12: 91,538,235	M649K	possibly damaging	Het
Vmn2r11	C	T	5: 109,054,834	V126M	probably benign	Het
Vps13b	T	A	15: 35,930,031	H3971Q	probably benign	Het
Wdr75	T	A	1: 45,819,538	N622K	probably benign	Het
Wdr93	A	T	7: 79,758,497	Q242L	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
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
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'- GTGTGATCCCCAAATGGCTG -3'
(R):5'- TGACAACGGTATTTGCTTCTGTTAG -3'

Sequencing Primer
(F):5'- AAGAAGGCTCCACCCTGTGTAG -3'
(R):5'- AGTGTCCCATGAGATGACTGTCC -3'

Posted On

2017-10-10