Incidental Mutation 'R4697:Radil'
ID |
355767 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Radil
|
Ensembl Gene |
ENSMUSG00000029576 |
Gene Name |
Ras association and DIL domains |
Synonyms |
D930005D10Rik |
MMRRC Submission |
041947-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4697 (G1)
|
Quality Score |
144 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
142470594-142536853 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 142472556 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 951
(D951E)
|
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: D928E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000064539 Gene: ENSMUSG00000029576 AA Change: D928E
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: D957E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000082910 Gene: ENSMUSG00000029576 AA Change: D957E
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: D688E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106411 Gene: ENSMUSG00000029576 AA Change: D688E
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: D951E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106412 Gene: ENSMUSG00000029576 AA Change: D951E
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
96% (75/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
C |
6: 121,615,243 (GRCm39) |
M1T |
probably null |
Het |
Aatf |
T |
A |
11: 84,339,964 (GRCm39) |
D449V |
probably damaging |
Het |
Acbd3 |
T |
A |
1: 180,549,509 (GRCm39) |
|
probably benign |
Het |
Bicc1 |
T |
A |
10: 70,789,314 (GRCm39) |
I366F |
possibly damaging |
Het |
Ccdc74a |
T |
C |
16: 17,467,613 (GRCm39) |
S184P |
possibly damaging |
Het |
Cntn4 |
T |
C |
6: 106,502,446 (GRCm39) |
V401A |
probably damaging |
Het |
Cux2 |
T |
C |
5: 122,011,816 (GRCm39) |
T540A |
probably damaging |
Het |
Disp2 |
G |
T |
2: 118,622,165 (GRCm39) |
E966* |
probably null |
Het |
Dpp7 |
A |
G |
2: 25,244,931 (GRCm39) |
Y209H |
probably benign |
Het |
Dstyk |
T |
A |
1: 132,377,225 (GRCm39) |
F277Y |
probably damaging |
Het |
Dtx1 |
A |
T |
5: 120,832,473 (GRCm39) |
|
probably null |
Het |
Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
Ednra |
T |
C |
8: 78,391,624 (GRCm39) |
H422R |
probably benign |
Het |
Erlec1 |
T |
A |
11: 30,902,640 (GRCm39) |
I67F |
probably benign |
Het |
Fam161b |
G |
A |
12: 84,395,332 (GRCm39) |
|
probably benign |
Het |
Gata5 |
A |
T |
2: 179,969,172 (GRCm39) |
C345* |
probably null |
Het |
Glmp |
T |
C |
3: 88,235,581 (GRCm39) |
V47A |
probably damaging |
Het |
Gm9762 |
T |
A |
3: 78,873,857 (GRCm39) |
|
noncoding transcript |
Het |
Gnas |
A |
T |
2: 174,139,873 (GRCm39) |
D14V |
probably damaging |
Het |
Gnl3 |
T |
C |
14: 30,739,286 (GRCm39) |
S53G |
probably damaging |
Het |
Grhl3 |
C |
T |
4: 135,275,777 (GRCm39) |
V527M |
probably damaging |
Het |
Hoxd10 |
T |
A |
2: 74,524,531 (GRCm39) |
L281* |
probably null |
Het |
Kif16b |
T |
G |
2: 142,532,614 (GRCm39) |
Y1175S |
probably benign |
Het |
Kif2b |
A |
G |
11: 91,467,672 (GRCm39) |
S204P |
probably benign |
Het |
Klhl40 |
T |
A |
9: 121,607,800 (GRCm39) |
I320N |
probably damaging |
Het |
Ksr2 |
G |
A |
5: 117,846,212 (GRCm39) |
R693Q |
probably damaging |
Het |
Mis12 |
A |
G |
11: 70,916,152 (GRCm39) |
K62E |
possibly damaging |
Het |
Mlc1 |
A |
G |
15: 88,858,980 (GRCm39) |
C102R |
probably damaging |
Het |
Muc5b |
T |
C |
7: 141,411,098 (GRCm39) |
I1348T |
unknown |
Het |
Myh7b |
A |
G |
2: 155,471,242 (GRCm39) |
E1130G |
probably damaging |
Het |
Nat8f4 |
T |
C |
6: 85,878,368 (GRCm39) |
T52A |
probably benign |
Het |
Nxpe2 |
C |
A |
9: 48,231,821 (GRCm39) |
V379L |
probably benign |
Het |
Or10ad1c |
G |
A |
15: 98,084,749 (GRCm39) |
R310W |
probably damaging |
Het |
Or4c1 |
C |
A |
2: 89,133,246 (GRCm39) |
S230I |
possibly damaging |
Het |
Or4c1 |
T |
A |
2: 89,133,247 (GRCm39) |
S230C |
probably damaging |
Het |
Or5b111 |
A |
T |
19: 13,291,081 (GRCm39) |
D189E |
probably benign |
Het |
Or5b12 |
C |
T |
19: 12,897,298 (GRCm39) |
C125Y |
probably damaging |
Het |
Pcdhga7 |
A |
T |
18: 37,850,261 (GRCm39) |
Y756F |
probably damaging |
Het |
Pcsk6 |
T |
A |
7: 65,608,989 (GRCm39) |
Y284N |
probably damaging |
Het |
Pdcd11 |
T |
C |
19: 47,114,786 (GRCm39) |
V1367A |
possibly damaging |
Het |
Postn |
T |
A |
3: 54,282,492 (GRCm39) |
N484K |
probably damaging |
Het |
Prkd3 |
C |
T |
17: 79,268,600 (GRCm39) |
V572I |
probably benign |
Het |
Qser1 |
T |
C |
2: 104,617,528 (GRCm39) |
S1005G |
probably benign |
Het |
Ripk1 |
C |
T |
13: 34,211,925 (GRCm39) |
R352* |
probably null |
Het |
Sacs |
T |
C |
14: 61,450,196 (GRCm39) |
F4081L |
probably benign |
Het |
Sbf1 |
A |
G |
15: 89,199,288 (GRCm39) |
V11A |
possibly damaging |
Het |
Sgip1 |
T |
A |
4: 102,791,784 (GRCm39) |
F536I |
probably damaging |
Het |
Slc45a1 |
A |
G |
4: 150,722,741 (GRCm39) |
L381P |
probably damaging |
Het |
Smarcad1 |
C |
T |
6: 65,029,625 (GRCm39) |
P71L |
probably benign |
Het |
Spns1 |
T |
A |
7: 125,976,209 (GRCm39) |
D14V |
probably damaging |
Het |
Sv2c |
T |
A |
13: 96,122,526 (GRCm39) |
I417F |
possibly damaging |
Het |
Tas2r113 |
T |
A |
6: 132,870,479 (GRCm39) |
M169K |
probably benign |
Het |
Tgm1 |
A |
T |
14: 55,943,138 (GRCm39) |
N567K |
probably benign |
Het |
Thoc2l |
A |
G |
5: 104,670,106 (GRCm39) |
K1543E |
probably benign |
Het |
Tln2 |
C |
T |
9: 67,302,743 (GRCm39) |
R76Q |
probably damaging |
Het |
Trpm6 |
T |
C |
19: 18,831,155 (GRCm39) |
V1340A |
probably benign |
Het |
Tspan18 |
A |
T |
2: 93,142,375 (GRCm39) |
|
probably null |
Het |
Txndc11 |
C |
T |
16: 10,902,178 (GRCm39) |
V679I |
probably damaging |
Het |
Usf1 |
G |
T |
1: 171,244,532 (GRCm39) |
G144V |
possibly damaging |
Het |
Vmn1r59 |
T |
C |
7: 5,457,451 (GRCm39) |
Y103C |
probably damaging |
Het |
Vmn2r23 |
A |
T |
6: 123,718,785 (GRCm39) |
I713F |
probably damaging |
Het |
Vmn2r79 |
A |
T |
7: 86,687,168 (GRCm39) |
I850F |
probably damaging |
Het |
Vps35l |
T |
A |
7: 118,390,671 (GRCm39) |
I455N |
probably damaging |
Het |
Wdr90 |
C |
T |
17: 26,074,337 (GRCm39) |
R676H |
probably benign |
Het |
Zfp867 |
G |
A |
11: 59,354,487 (GRCm39) |
R281W |
probably damaging |
Het |
Zfp939 |
T |
C |
7: 39,122,366 (GRCm39) |
|
noncoding transcript |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GACTGTCTCTCTAAGGCACTAAGG -3'
(R):5'- GCAGAGTTGCTGTTGAAACTG -3'
Sequencing Primer
(F):5'- TCTCTCTAAGGCACTAAGGAGCATG -3'
(R):5'- TCTTCCTGTCACGGGAGC -3'
|
Posted On |
2015-10-21 |