Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02978:Radil'

406461

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02978

Quality Score

Status

Chromosome

Chromosomal Location

142470594-142536853 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 142480674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 594 (R594C)

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: R594C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000064539
Gene: ENSMUSG00000029576
AA Change: R594C

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: R623C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000082910
Gene: ENSMUSG00000029576
AA Change: R623C

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: R354C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106411
Gene: ENSMUSG00000029576
AA Change: R354C

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: R594C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106412
Gene: ENSMUSG00000029576
AA Change: R594C

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	A	3: 97,073,875 (GRCm39)	F160I	probably benign	Het
Agt	T	C	8: 125,284,502 (GRCm39)	D412G	possibly damaging	Het
Als2	C	A	1: 59,254,324 (GRCm39)	Q344H	probably benign	Het
Ate1	C	A	7: 129,996,470 (GRCm39)		probably benign	Het
B3gnt5	A	G	16: 19,588,744 (GRCm39)	H321R	probably damaging	Het
Cog2	C	A	8: 125,277,075 (GRCm39)	H694N	probably benign	Het
Col11a1	A	G	3: 113,855,211 (GRCm39)	N157S	unknown	Het
Cyp3a44	T	A	5: 145,725,208 (GRCm39)	K331I	probably damaging	Het
Dnaaf9	T	C	2: 130,569,082 (GRCm39)	D749G	probably damaging	Het
Gal3st4	C	A	5: 138,263,931 (GRCm39)	W351L	probably damaging	Het
H2-T22	A	T	17: 36,352,517 (GRCm39)	L136H	probably benign	Het
Ift25	A	G	4: 107,132,471 (GRCm39)	E86G	probably damaging	Het
Itpripl1	A	T	2: 126,982,932 (GRCm39)	F397I	probably damaging	Het
Lama1	C	T	17: 68,093,076 (GRCm39)	Q1705*	probably null	Het
Mfge8	A	T	7: 78,791,458 (GRCm39)	L248Q	probably damaging	Het
Mfge8	T	C	7: 78,791,476 (GRCm39)	E279G	possibly damaging	Het
Obox3	T	C	7: 15,360,178 (GRCm39)	T164A	probably benign	Het
Plat	T	C	8: 23,266,835 (GRCm39)	C276R	probably damaging	Het
Shroom4	T	A	X: 6,497,244 (GRCm39)	D801E	probably benign	Het
Thsd4	C	T	9: 59,964,129 (GRCm39)		probably null	Het
Vmn2r77	C	T	7: 86,460,555 (GRCm39)	T627I	probably benign	Het
Vmn2r97	A	T	17: 19,168,298 (GRCm39)	T851S	probably benign	Het

Other mutations in Radil

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Radil	APN	5	142,483,677 (GRCm39)	missense	probably damaging	0.99
IGL01359:Radil	APN	5	142,529,468 (GRCm39)	missense	probably damaging	0.98
IGL01714:Radil	APN	5	142,529,152 (GRCm39)	unclassified	probably benign
IGL02086:Radil	APN	5	142,529,576 (GRCm39)	missense	probably benign	0.28
IGL02250:Radil	APN	5	142,529,529 (GRCm39)	missense	probably damaging	1.00
IGL02296:Radil	APN	5	142,492,218 (GRCm39)	missense	probably benign	0.10
IGL02890:Radil	APN	5	142,529,463 (GRCm39)	missense	probably damaging	1.00
IGL03131:Radil	APN	5	142,481,097 (GRCm39)	missense	probably damaging	1.00
R0362:Radil	UTSW	5	142,529,582 (GRCm39)	missense	probably benign	0.00
R0389:Radil	UTSW	5	142,529,226 (GRCm39)	missense	probably damaging	0.98
R0426:Radil	UTSW	5	142,483,628 (GRCm39)	missense	probably damaging	1.00
R1753:Radil	UTSW	5	142,481,091 (GRCm39)	missense	probably damaging	1.00
R2168:Radil	UTSW	5	142,492,718 (GRCm39)	missense	probably benign	0.00
R3055:Radil	UTSW	5	142,481,161 (GRCm39)	missense	possibly damaging	0.77
R3177:Radil	UTSW	5	142,492,611 (GRCm39)	missense	probably damaging	1.00
R3277:Radil	UTSW	5	142,492,611 (GRCm39)	missense	probably damaging	1.00
R3851:Radil	UTSW	5	142,492,752 (GRCm39)	missense	probably damaging	1.00
R4043:Radil	UTSW	5	142,479,988 (GRCm39)	missense	probably benign	0.31
R4245:Radil	UTSW	5	142,529,546 (GRCm39)	missense	probably damaging	1.00
R4367:Radil	UTSW	5	142,480,560 (GRCm39)	missense	probably benign	0.06
R4697:Radil	UTSW	5	142,472,556 (GRCm39)	missense	probably benign
R4798:Radil	UTSW	5	142,470,918 (GRCm39)	missense	probably benign	0.39
R4948:Radil	UTSW	5	142,470,994 (GRCm39)	missense	probably benign	0.02
R5407:Radil	UTSW	5	142,493,970 (GRCm39)	missense	probably damaging	1.00
R5784:Radil	UTSW	5	142,473,268 (GRCm39)	missense	possibly damaging	0.88
R5918:Radil	UTSW	5	142,473,357 (GRCm39)	missense	probably benign	0.43
R5943:Radil	UTSW	5	142,471,213 (GRCm39)	missense	probably damaging	1.00
R6112:Radil	UTSW	5	142,529,399 (GRCm39)	missense	probably damaging	1.00
R6147:Radil	UTSW	5	142,483,695 (GRCm39)	missense	probably benign	0.01
R6174:Radil	UTSW	5	142,472,870 (GRCm39)	missense	probably benign
R6241:Radil	UTSW	5	142,480,697 (GRCm39)	missense	probably damaging	1.00
R6874:Radil	UTSW	5	142,492,557 (GRCm39)	missense	probably damaging	1.00
R6881:Radil	UTSW	5	142,472,672 (GRCm39)	missense	probably benign	0.00
R7056:Radil	UTSW	5	142,480,109 (GRCm39)	nonsense	probably null
R7134:Radil	UTSW	5	142,471,304 (GRCm39)	missense	probably damaging	1.00
R7167:Radil	UTSW	5	142,471,260 (GRCm39)	splice site	probably null
R7374:Radil	UTSW	5	142,471,235 (GRCm39)	missense	probably damaging	1.00
R7482:Radil	UTSW	5	142,472,518 (GRCm39)	missense	probably benign
R7607:Radil	UTSW	5	142,492,368 (GRCm39)	missense	probably damaging	0.99
R7607:Radil	UTSW	5	142,480,550 (GRCm39)	missense	probably damaging	0.98
R7777:Radil	UTSW	5	142,529,303 (GRCm39)	missense	probably damaging	1.00
R7779:Radil	UTSW	5	142,473,320 (GRCm39)	missense	probably benign	0.03
R8047:Radil	UTSW	5	142,480,695 (GRCm39)	missense	probably damaging	1.00
R8123:Radil	UTSW	5	142,473,375 (GRCm39)	missense	probably damaging	0.99
R8418:Radil	UTSW	5	142,480,676 (GRCm39)	missense	probably benign	0.23
R8525:Radil	UTSW	5	142,474,256 (GRCm39)	missense	probably damaging	1.00
R8708:Radil	UTSW	5	142,471,204 (GRCm39)	missense	probably damaging	1.00
R8827:Radil	UTSW	5	142,493,859 (GRCm39)	missense	probably damaging	1.00
R9181:Radil	UTSW	5	142,480,722 (GRCm39)	missense	probably damaging	1.00
R9315:Radil	UTSW	5	142,474,254 (GRCm39)	missense	probably damaging	0.98
R9462:Radil	UTSW	5	142,471,220 (GRCm39)	missense	probably damaging	1.00
R9545:Radil	UTSW	5	142,492,392 (GRCm39)	missense	probably benign
R9694:Radil	UTSW	5	142,473,378 (GRCm39)	missense	probably damaging	1.00
X0058:Radil	UTSW	5	142,473,269 (GRCm39)	missense	possibly damaging	0.68

Posted On

2016-08-02