Mutagenetix > Incidental Mutation

Incidental Mutation 'R9462:Radil'

714928

Institutional Source

Beutler Lab

Gene Symbol

Radil

Ensembl Gene

ENSMUSG00000029576

Gene Name

Ras association and DIL domains

Synonyms

D930005D10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9462 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142470594-142536853 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 142471220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 1019 (D1019Y)

Ref Sequence

ENSEMBL: ENSMUSP00000064539 (fasta)

Gene Model

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

AlphaFold

Q69Z89

Predicted Effect

probably damaging
Transcript: ENSMUST00000063635
AA Change: D1019Y

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

SMART Domains

Protein: ENSMUSP00000064539
Gene: ENSMUSG00000029576
AA Change: D1019Y

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: D1048Y

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

SMART Domains

Protein: ENSMUSP00000082910
Gene: ENSMUSG00000029576
AA Change: D1048Y

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: D779Y

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

SMART Domains

Protein: ENSMUSP00000106411
Gene: ENSMUSG00000029576
AA Change: D779Y

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: D1042Y

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

SMART Domains

Protein: ENSMUSP00000106412
Gene: ENSMUSG00000029576
AA Change: D1042Y

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	G	A	4: 103,092,964 (GRCm39)	T220I	probably benign	Het
Abca8b	T	A	11: 109,844,433 (GRCm39)	H928L		Het
Ahnak	A	T	19: 8,981,299 (GRCm39)	D861V	probably damaging	Het
Ahnak2	C	A	12: 112,750,655 (GRCm39)	R89L		Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Anks6	A	G	4: 47,033,142 (GRCm39)	L573P	unknown	Het
Ano5	T	C	7: 51,235,200 (GRCm39)	V711A	probably benign	Het
Arl2bp	C	A	8: 95,398,755 (GRCm39)	A120D	probably damaging	Het
Asap1	A	G	15: 64,038,328 (GRCm39)	Y223H	probably damaging	Het
Atp7b	A	T	8: 22,490,160 (GRCm39)	M1151K	probably damaging	Het
B4galnt3	A	T	6: 120,271,438 (GRCm39)	L28Q	probably null	Het
Ccdc39	T	C	3: 33,868,519 (GRCm39)	K856E	probably benign	Het
Ccr9	A	G	9: 123,608,600 (GRCm39)	D94G	probably damaging	Het
Cdan1	A	G	2: 120,560,060 (GRCm39)	I368T	possibly damaging	Het
Cdhr17	G	T	5: 17,027,213 (GRCm39)	A379S		Het
Cfap54	T	C	10: 92,737,920 (GRCm39)	Q2326R	unknown	Het
Chrm3	T	C	13: 9,927,437 (GRCm39)	Y533C		Het
Ckap4	C	T	10: 84,363,924 (GRCm39)	E380K	possibly damaging	Het
Cntnap2	T	C	6: 46,211,217 (GRCm39)	F544L	probably damaging	Het
Cwh43	A	G	5: 73,591,695 (GRCm39)	K596R	probably benign	Het
Cyp26c1	A	G	19: 37,681,634 (GRCm39)	E479G	probably damaging	Het
Deup1	A	G	9: 15,493,882 (GRCm39)	V420A	probably benign	Het
Dnah3	A	G	7: 119,551,523 (GRCm39)	V2932A	probably benign	Het
Dthd1	G	A	5: 63,039,626 (GRCm39)	R676H	probably benign	Het
Eef1e1	A	G	13: 38,838,997 (GRCm39)	L120P	probably damaging	Het
Elane	T	C	10: 79,723,883 (GRCm39)	S244P	probably benign	Het
Esp6	A	G	17: 40,876,315 (GRCm39)	E121G	probably benign	Het
Eya1	T	C	1: 14,299,775 (GRCm39)	E326G	probably damaging	Het
Fut2	G	T	7: 45,300,492 (GRCm39)	N93K	probably damaging	Het
Garin5b	A	G	7: 4,761,330 (GRCm39)	S461P		Het
Gm12695	A	G	4: 96,651,075 (GRCm39)	V126A	probably benign	Het
Gucy2g	A	G	19: 55,221,469 (GRCm39)		probably null	Het
Hbs1l	T	C	10: 21,218,304 (GRCm39)	V267A	probably damaging	Het
Hsd17b1	A	T	11: 100,969,806 (GRCm39)	N106I	possibly damaging	Het
Ino80d	G	A	1: 63,097,393 (GRCm39)	L939F	probably damaging	Het
Lilra6	A	G	7: 3,914,994 (GRCm39)	W505R	probably damaging	Het
Map3k14	T	A	11: 103,118,360 (GRCm39)	K609*	probably null	Het
Mark1	T	A	1: 184,651,868 (GRCm39)	K212N	probably damaging	Het
Muc5b	T	A	7: 141,415,216 (GRCm39)	C2721S		Het
Myh4	A	G	11: 67,141,811 (GRCm39)	D890G	possibly damaging	Het
Mylk2	T	G	2: 152,761,373 (GRCm39)	L492R	probably damaging	Het
Myt1	T	A	2: 181,467,729 (GRCm39)	Y1134*	probably null	Het
N4bp2	G	A	5: 65,947,898 (GRCm39)	G176D	probably benign	Het
Ncstn	A	C	1: 171,899,707 (GRCm39)	M325R	probably damaging	Het
Ndor1	C	T	2: 25,144,875 (GRCm39)		probably null	Het
Notch4	G	A	17: 34,806,667 (GRCm39)	R1868H	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or2b2b	A	T	13: 21,859,015 (GRCm39)	V33E	probably benign	Het
Or8s16	T	A	15: 98,211,186 (GRCm39)	N82Y	possibly damaging	Het
Oxct2a	G	T	4: 123,216,441 (GRCm39)	D313E	probably damaging	Het
Pcdha2	T	A	18: 37,073,546 (GRCm39)	H392Q	probably benign	Het
Pcdhb20	T	G	18: 37,639,799 (GRCm39)	L775R	probably benign	Het
Pclo	A	G	5: 14,840,408 (GRCm39)	D1449G		Het
Pcx	A	G	19: 4,651,970 (GRCm39)	T73A	probably benign	Het
Pou6f2	A	G	13: 18,314,189 (GRCm39)	S395P	probably benign	Het
Prss35	C	G	9: 86,638,392 (GRCm39)	I387M		Het
Rnf40	G	T	7: 127,191,010 (GRCm39)		probably null	Het
Scarb1	A	T	5: 125,417,891 (GRCm39)	L19Q	probably damaging	Het
Scn8a	T	A	15: 100,930,159 (GRCm39)	F1457I		Het
Sdk2	C	T	11: 113,760,744 (GRCm39)	V339I	possibly damaging	Het
Siglec1	A	G	2: 130,916,404 (GRCm39)	L1182P	probably damaging	Het
Slc4a4	G	A	5: 89,194,131 (GRCm39)	V204I	probably damaging	Het
Sp9	T	C	2: 73,104,243 (GRCm39)	S266P	probably benign	Het
Spata21	A	G	4: 140,831,316 (GRCm39)	E421G	probably damaging	Het
Sulf1	C	T	1: 12,929,459 (GRCm39)	P242L	probably damaging	Het
Sval3	G	A	6: 41,945,105 (GRCm39)	G11E	possibly damaging	Het
Tecta	T	A	9: 42,248,576 (GRCm39)	Y1942F	probably damaging	Het
Thbs2	C	T	17: 14,890,243 (GRCm39)	G1121D	probably damaging	Het
Thrap3	G	T	4: 126,070,048 (GRCm39)	S613*	probably null	Het
Ttc34	A	C	4: 154,942,539 (GRCm39)	K59Q	probably damaging	Het
Tut7	A	T	13: 59,929,957 (GRCm39)	L1428H	possibly damaging	Het
Ube4b	A	T	4: 149,444,748 (GRCm39)	L504Q	probably damaging	Het
Uncx	A	T	5: 139,529,771 (GRCm39)	E8V	probably damaging	Het
Vmn1r79	A	T	7: 11,910,261 (GRCm39)	I48F	probably damaging	Het
Vmn2r99	C	A	17: 19,598,388 (GRCm39)	Y137*	probably null	Het
Zfp354b	G	A	11: 50,814,523 (GRCm39)	T134I	probably benign	Het
Zfp618	G	A	4: 63,051,510 (GRCm39)	V764I	possibly damaging	Het
Zfp873	T	G	10: 81,897,131 (GRCm39)	C621G	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
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
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'- CCACTGCCCTGAAATCAAGG -3'
(R):5'- CAAGTTCACAGGGAGGCTTG -3'

Sequencing Primer
(F):5'- CACTGCCCTGAAATCAAGGAAAGAG -3'
(R):5'- CTTGGGGCTGGGGTACAAG -3'

Posted On

2022-06-15