Mutagenetix > Incidental Mutation

Incidental Mutation 'R8827:Radil'

673529

Institutional Source

Beutler Lab

Gene Symbol

Radil

Ensembl Gene

ENSMUSG00000029576

Gene Name

Ras association and DIL domains

Synonyms

D930005D10Rik

MMRRC Submission

068658-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8827 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142470594-142536853 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142493859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 250 (H250R)

Ref Sequence

ENSEMBL: ENSMUSP00000064539 (fasta)

Gene Model

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

AlphaFold

Q69Z89

Predicted Effect

probably damaging
Transcript: ENSMUST00000063635
AA Change: H250R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064539
Gene: ENSMUSG00000029576
AA Change: H250R

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: H279R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082910
Gene: ENSMUSG00000029576
AA Change: H279R

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: H10R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106411
Gene: ENSMUSG00000029576
AA Change: H10R

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: H250R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106412
Gene: ENSMUSG00000029576
AA Change: H250R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,839,324 (GRCm39)	I810V	probably benign	Het
Adcy7	T	C	8: 89,036,327 (GRCm39)	F128S	possibly damaging	Het
Ankhd1	C	T	18: 36,757,633 (GRCm39)	Q188*	probably null	Het
Asxl2	A	T	12: 3,550,501 (GRCm39)	I748L	probably benign	Het
Atp8b2	T	C	3: 89,853,307 (GRCm39)	N70S		Het
Bmp1	A	G	14: 70,728,082 (GRCm39)	Y616H	probably damaging	Het
Brap	T	A	5: 121,810,261 (GRCm39)	D248E	probably benign	Het
Ccdc13	G	A	9: 121,645,765 (GRCm39)	S294L	probably benign	Het
Cdkl1	T	C	12: 69,794,123 (GRCm39)	Y338C	probably benign	Het
Cfap54	A	T	10: 92,774,110 (GRCm39)	S1993T	unknown	Het
Chl1	G	T	6: 103,670,111 (GRCm39)	M500I	probably benign	Het
Cntn3	G	C	6: 102,246,094 (GRCm39)	L352V	probably benign	Het
Cog6	T	C	3: 52,890,535 (GRCm39)	D635G	probably benign	Het
Col22a1	C	A	15: 71,774,665 (GRCm39)		probably null	Het
Cyp3a16	A	T	5: 145,387,008 (GRCm39)	D327E	probably benign	Het
D6Ertd527e	A	T	6: 87,088,226 (GRCm39)	S130C	unknown	Het
Dhodh	T	C	8: 110,334,928 (GRCm39)		probably benign	Het
Dync2li1	C	T	17: 84,955,079 (GRCm39)	S246L	possibly damaging	Het
Eif3c	A	T	7: 126,157,894 (GRCm39)	F316Y	probably damaging	Het
Esp34	A	T	17: 38,865,091 (GRCm39)		probably benign	Het
Fam98a	T	C	17: 75,851,824 (GRCm39)	M86V	possibly damaging	Het
Gm29394	G	T	15: 57,932,717 (GRCm39)	Q7K	probably damaging	Het
Gtf2i	C	T	5: 134,269,096 (GRCm39)		probably null	Het
H2bc27	C	T	11: 58,839,917 (GRCm39)	P51L	probably benign	Het
Hecw1	A	G	13: 14,438,720 (GRCm39)	Y888H	probably damaging	Het
Kcnma1	A	T	14: 23,417,548 (GRCm39)	W894R	probably damaging	Het
Klhl25	C	A	7: 75,516,391 (GRCm39)	D432E	possibly damaging	Het
Klhl7	G	A	5: 24,363,635 (GRCm39)		probably null	Het
Lamc1	A	T	1: 153,097,424 (GRCm39)	L1540Q	probably damaging	Het
Map3k5	T	A	10: 19,902,003 (GRCm39)	V358E	probably damaging	Het
Map4k5	C	T	12: 69,903,635 (GRCm39)	D57N	possibly damaging	Het
Mpped2	T	C	2: 106,691,928 (GRCm39)	M211T	possibly damaging	Het
Nat9	T	C	11: 115,075,339 (GRCm39)	T101A	probably benign	Het
Nprl3	A	T	11: 32,184,742 (GRCm39)	F447L	probably benign	Het
Nup50l	G	T	6: 96,142,293 (GRCm39)	N250K	probably benign	Het
Or4p22	T	C	2: 88,317,165 (GRCm39)	S30P	probably damaging	Het
Or5h24	G	A	16: 58,919,061 (GRCm39)	T98I	unknown	Het
Or5w16	C	T	2: 87,576,777 (GRCm39)	P79L	possibly damaging	Het
Orc3	A	T	4: 34,605,569 (GRCm39)	F104Y	probably benign	Het
Pcdha6	T	A	18: 37,102,802 (GRCm39)	V665E	probably damaging	Het
Pdpk1	T	C	17: 24,307,191 (GRCm39)	D380G	probably benign	Het
Phkg1	T	A	5: 129,893,894 (GRCm39)	E280D	probably benign	Het
Pkdrej	T	A	15: 85,699,732 (GRCm39)	Y2068F	possibly damaging	Het
Plekhg5	A	G	4: 152,191,462 (GRCm39)		probably benign	Het
Plekhh3	G	A	11: 101,058,380 (GRCm39)	P222L	probably damaging	Het
Prdm1	A	T	10: 44,334,476 (GRCm39)	V10E	probably benign	Het
Prdm6	G	T	18: 53,701,267 (GRCm39)	Q513H	probably damaging	Het
Pros1	T	C	16: 62,746,827 (GRCm39)	V593A	probably benign	Het
Rasa2	C	T	9: 96,434,403 (GRCm39)	R628Q	probably damaging	Het
Ryr2	T	C	13: 11,572,934 (GRCm39)	E4884G	possibly damaging	Het
Shh	A	G	5: 28,663,125 (GRCm39)	S348P	probably damaging	Het
Slc1a4	A	T	11: 20,270,237 (GRCm39)		probably benign	Het
Slc32a1	A	C	2: 158,453,274 (GRCm39)	D38A	probably damaging	Het
Slc35f3	TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,780 (GRCm39)		probably benign	Het
Slc45a4	A	T	15: 73,458,316 (GRCm39)	I411N	probably benign	Het
Slc49a4	A	T	16: 35,554,320 (GRCm39)	C274S	probably benign	Het
Slc7a10	C	A	7: 34,897,313 (GRCm39)	S248Y	probably damaging	Het
Smc3	T	A	19: 53,611,085 (GRCm39)	D258E	probably benign	Het
Spata31h1	T	A	10: 82,129,617 (GRCm39)	Q1131L	probably benign	Het
Sphk1	A	G	11: 116,426,590 (GRCm39)	D182G	probably damaging	Het
Srgap3	A	G	6: 112,716,302 (GRCm39)	Y633H	probably damaging	Het
Sspo	T	G	6: 48,434,606 (GRCm39)	F1033V	possibly damaging	Het
Syne2	T	C	12: 76,095,357 (GRCm39)	V488A	probably benign	Het
Tead1	A	C	7: 112,475,449 (GRCm39)	K299N	probably damaging	Het
Tmem150c	A	C	5: 100,240,654 (GRCm39)	S69R	probably damaging	Het
Tnfaip3	T	A	10: 18,880,795 (GRCm39)	K424M	probably damaging	Het
Trib3	A	G	2: 152,180,188 (GRCm39)	V335A	possibly damaging	Het
Ttc39c	G	A	18: 12,828,436 (GRCm39)	V199I	probably benign	Het
Vangl1	A	T	3: 102,070,736 (GRCm39)	F400Y	probably damaging	Het
Vmn2r106	A	T	17: 20,487,868 (GRCm39)	S844T	probably benign	Het
Wwtr1	A	G	3: 57,482,616 (GRCm39)	V77A	probably damaging	Het
Yju2b	T	A	8: 84,986,987 (GRCm39)	Q170L	possibly damaging	Het
Zc3h4	C	A	7: 16,163,123 (GRCm39)	P500T	unknown	Het
Zfand2a	C	T	5: 139,460,607 (GRCm39)		probably null	Het
Zfr2	A	G	10: 81,078,619 (GRCm39)	T284A	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
IGL02978:Radil	APN	5	142,480,674 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGGTAGCAGCAACCTTGTGC -3'
(R):5'- TGTTTCCAGGGATAAACGCC -3'

Sequencing Primer
(F):5'- GCAACCTTGTGCCCCAC -3'
(R):5'- TACAGCGTATCCGTGCCAAG -3'

Posted On

2021-07-15