Incidental Mutation 'R5943:Radil'
ID |
460408 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Radil
|
Ensembl Gene |
ENSMUSG00000029576 |
Gene Name |
Ras association and DIL domains |
Synonyms |
D930005D10Rik |
MMRRC Submission |
044135-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5943 (G1)
|
Quality Score |
209 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
142470594-142536853 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 142471213 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 1044
(I1044T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106412
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063635]
[ENSMUST00000085758]
[ENSMUST00000110784]
[ENSMUST00000110785]
|
AlphaFold |
Q69Z89 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063635
AA Change: I1021T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000064539 Gene: ENSMUSG00000029576 AA Change: I1021T
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: I1050T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000082910 Gene: ENSMUSG00000029576 AA Change: I1050T
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: I781T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106411 Gene: ENSMUSG00000029576 AA Change: I781T
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: I1044T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000106412 Gene: ENSMUSG00000029576 AA Change: I1044T
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150380
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
C |
A |
17: 45,828,637 (GRCm39) |
Q671K |
probably benign |
Het |
Acaa2 |
A |
G |
18: 74,925,453 (GRCm39) |
H72R |
probably damaging |
Het |
Acad8 |
A |
G |
9: 26,910,740 (GRCm39) |
L18P |
probably benign |
Het |
Acap3 |
T |
C |
4: 155,983,879 (GRCm39) |
V115A |
possibly damaging |
Het |
Adamts9 |
T |
C |
6: 92,880,767 (GRCm39) |
T503A |
probably benign |
Het |
Adcy1 |
T |
C |
11: 7,111,337 (GRCm39) |
F876S |
probably damaging |
Het |
Adgrv1 |
T |
C |
13: 81,534,985 (GRCm39) |
E5760G |
probably damaging |
Het |
Ankrd26 |
A |
T |
6: 118,482,707 (GRCm39) |
I1631K |
probably damaging |
Het |
Ccdc150 |
A |
G |
1: 54,339,526 (GRCm39) |
T457A |
probably benign |
Het |
Cd163 |
T |
C |
6: 124,306,561 (GRCm39) |
*1160R |
probably null |
Het |
Cdc6 |
T |
C |
11: 98,811,589 (GRCm39) |
S517P |
probably damaging |
Het |
Cenpf |
A |
T |
1: 189,392,166 (GRCm39) |
D555E |
possibly damaging |
Het |
Cfap251 |
A |
G |
5: 123,424,420 (GRCm39) |
T205A |
probably benign |
Het |
Clcn1 |
T |
A |
6: 42,269,900 (GRCm39) |
I241N |
probably damaging |
Het |
Clrn2 |
A |
T |
5: 45,621,061 (GRCm39) |
I152F |
probably benign |
Het |
Col4a4 |
A |
G |
1: 82,502,737 (GRCm39) |
I349T |
unknown |
Het |
Coq8b |
T |
A |
7: 26,933,428 (GRCm39) |
F96L |
probably damaging |
Het |
Cp |
A |
T |
3: 20,018,470 (GRCm39) |
N58I |
probably benign |
Het |
Dcst1 |
A |
T |
3: 89,263,718 (GRCm39) |
|
probably null |
Het |
Dhrs3 |
A |
T |
4: 144,646,546 (GRCm39) |
M199L |
possibly damaging |
Het |
Dido1 |
A |
T |
2: 180,303,675 (GRCm39) |
S1410T |
probably benign |
Het |
Dnase1l2 |
C |
T |
17: 24,661,721 (GRCm39) |
A13T |
probably damaging |
Het |
Duox1 |
G |
A |
2: 122,163,916 (GRCm39) |
R861Q |
probably benign |
Het |
Eya2 |
A |
G |
2: 165,566,609 (GRCm39) |
H220R |
probably damaging |
Het |
Fas |
T |
G |
19: 34,297,987 (GRCm39) |
|
probably null |
Het |
Fezf1 |
T |
A |
6: 23,246,948 (GRCm39) |
K295* |
probably null |
Het |
Gldn |
T |
G |
9: 54,245,721 (GRCm39) |
I424R |
possibly damaging |
Het |
Gnptab |
T |
C |
10: 88,269,376 (GRCm39) |
V693A |
probably benign |
Het |
Gsdma |
A |
T |
11: 98,563,852 (GRCm39) |
T269S |
probably benign |
Het |
Hectd4 |
A |
T |
5: 121,460,357 (GRCm39) |
T2209S |
probably benign |
Het |
Hoxd3 |
A |
G |
2: 74,577,173 (GRCm39) |
N351S |
probably benign |
Het |
Itpkc |
T |
A |
7: 26,912,404 (GRCm39) |
N581I |
possibly damaging |
Het |
Kank3 |
G |
T |
17: 34,037,375 (GRCm39) |
E226D |
probably damaging |
Het |
Krtap5-1 |
A |
G |
7: 141,850,788 (GRCm39) |
S7P |
unknown |
Het |
Lrriq3 |
A |
G |
3: 154,869,587 (GRCm39) |
Y304C |
probably damaging |
Het |
Man2a1 |
A |
G |
17: 64,932,375 (GRCm39) |
K154R |
probably benign |
Het |
Mdn1 |
T |
C |
4: 32,678,330 (GRCm39) |
S653P |
probably damaging |
Het |
Mri1 |
A |
T |
8: 84,980,948 (GRCm39) |
L194* |
probably null |
Het |
Mtus1 |
T |
C |
8: 41,537,302 (GRCm39) |
E138G |
probably benign |
Het |
Myo3b |
G |
A |
2: 70,117,285 (GRCm39) |
R906Q |
probably benign |
Het |
Nckipsd |
C |
T |
9: 108,689,435 (GRCm39) |
P199S |
possibly damaging |
Het |
Or52n5 |
T |
A |
7: 104,587,850 (GRCm39) |
I39N |
possibly damaging |
Het |
Or9i16 |
C |
T |
19: 13,865,116 (GRCm39) |
V153I |
possibly damaging |
Het |
Pacsin1 |
T |
C |
17: 27,925,045 (GRCm39) |
L253P |
probably damaging |
Het |
Pcca |
T |
A |
14: 122,896,188 (GRCm39) |
I268N |
probably damaging |
Het |
Pcdhga8 |
A |
G |
18: 37,949,565 (GRCm39) |
D327G |
probably damaging |
Het |
Pcnx4 |
A |
G |
12: 72,626,232 (GRCm39) |
H1146R |
probably damaging |
Het |
Pnma8b |
T |
C |
7: 16,680,362 (GRCm39) |
S449P |
probably benign |
Het |
Psmb9 |
T |
C |
17: 34,403,265 (GRCm39) |
E61G |
probably damaging |
Het |
Pxylp1 |
A |
G |
9: 96,721,203 (GRCm39) |
Y101H |
probably damaging |
Het |
Rnf43 |
G |
A |
11: 87,622,561 (GRCm39) |
R554H |
probably damaging |
Het |
Sp5 |
A |
T |
2: 70,305,659 (GRCm39) |
Q17L |
probably null |
Het |
Spmip1 |
T |
A |
6: 29,471,908 (GRCm39) |
L128Q |
possibly damaging |
Het |
Strn |
C |
A |
17: 78,977,276 (GRCm39) |
V211F |
probably damaging |
Het |
Sult3a1 |
A |
G |
10: 33,742,637 (GRCm39) |
D88G |
probably damaging |
Het |
Trim14 |
T |
C |
4: 46,522,136 (GRCm39) |
I180M |
probably benign |
Het |
Tsnax |
C |
A |
8: 125,751,278 (GRCm39) |
S90* |
probably null |
Het |
Ttn |
A |
G |
2: 76,798,780 (GRCm39) |
M498T |
probably benign |
Het |
Vmn1r198 |
T |
A |
13: 22,539,367 (GRCm39) |
Y195* |
probably null |
Het |
Vmn2r70 |
T |
C |
7: 85,215,199 (GRCm39) |
T112A |
probably benign |
Het |
Wwc2 |
T |
C |
8: 48,443,137 (GRCm39) |
N32S |
possibly damaging |
Het |
Yme1l1 |
G |
T |
2: 23,058,342 (GRCm39) |
R158L |
probably damaging |
Het |
Zc2hc1c |
C |
A |
12: 85,336,483 (GRCm39) |
H47N |
probably damaging |
Het |
Zc3h10 |
C |
A |
10: 128,381,396 (GRCm39) |
|
probably benign |
Het |
Zfp825 |
T |
C |
13: 74,629,007 (GRCm39) |
R170G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTCCATGTCGGATCAAATC -3'
(R):5'- CTGGGGTACAAGGCCTTTTCTG -3'
Sequencing Primer
(F):5'- TCCACTGCCCTGAAATCAAGG -3'
(R):5'- ACAAGGCCTTTTCTGGGGAGAG -3'
|
Posted On |
2017-02-28 |