Incidental Mutation 'R6241:Radil'
| ID |
505232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Radil
|
| Ensembl Gene |
ENSMUSG00000029576 |
| Gene Name |
Ras association and DIL domains |
| Synonyms |
D930005D10Rik |
| MMRRC Submission |
044402-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6241 (G1)
|
| Quality Score |
154.008 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
142470594-142536853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 142480697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 586
(E586G)
|
| 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: E586G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000064539
Gene: ENSMUSG00000029576
AA Change: E586G
| 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: E615G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000082910
Gene: ENSMUSG00000029576
AA Change: E615G
| 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: E346G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106411
Gene: ENSMUSG00000029576
AA Change: E346G
| 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: E586G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106412
Gene: ENSMUSG00000029576
AA Change: E586G
| 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
|
| Meta Mutation Damage Score |
0.3895 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,623,788 (GRCm39) |
I385V |
probably benign |
Het |
| Ablim2 |
A |
G |
5: 36,032,241 (GRCm39) |
D622G |
probably damaging |
Het |
| Acsbg1 |
A |
T |
9: 54,549,946 (GRCm39) |
S86T |
probably damaging |
Het |
| Adam34l |
T |
A |
8: 44,079,133 (GRCm39) |
I364L |
probably benign |
Het |
| Ank2 |
A |
C |
3: 126,846,397 (GRCm39) |
D199E |
probably damaging |
Het |
| Art2a |
T |
A |
7: 101,204,452 (GRCm39) |
M29L |
probably benign |
Het |
| Bbs2 |
C |
A |
8: 94,824,863 (GRCm39) |
|
probably null |
Het |
| Brwd1 |
A |
T |
16: 95,815,074 (GRCm39) |
I1402N |
probably damaging |
Het |
| C1qtnf9 |
C |
A |
14: 61,017,069 (GRCm39) |
P200T |
possibly damaging |
Het |
| Ciita |
T |
C |
16: 10,329,767 (GRCm39) |
Y684H |
probably damaging |
Het |
| Dennd1c |
T |
C |
17: 57,373,272 (GRCm39) |
N734D |
probably benign |
Het |
| Depdc1b |
A |
T |
13: 108,460,653 (GRCm39) |
I88F |
possibly damaging |
Het |
| Dsg2 |
A |
G |
18: 20,723,274 (GRCm39) |
|
probably null |
Het |
| Foxp2 |
A |
G |
6: 15,394,761 (GRCm39) |
T154A |
probably damaging |
Het |
| Gmeb1 |
A |
T |
4: 131,969,688 (GRCm39) |
V95D |
possibly damaging |
Het |
| Gmeb1 |
A |
G |
4: 131,973,324 (GRCm39) |
S62P |
probably benign |
Het |
| Golga5 |
T |
A |
12: 102,438,732 (GRCm39) |
V149D |
probably damaging |
Het |
| H1f7 |
A |
C |
15: 98,154,652 (GRCm39) |
S166A |
unknown |
Het |
| Hivep1 |
T |
C |
13: 42,311,846 (GRCm39) |
L1362P |
probably benign |
Het |
| Ift81 |
T |
C |
5: 122,740,414 (GRCm39) |
M205V |
probably benign |
Het |
| Iglv3 |
T |
A |
16: 19,059,968 (GRCm39) |
Q120L |
possibly damaging |
Het |
| Ints9 |
C |
T |
14: 65,217,659 (GRCm39) |
T62I |
possibly damaging |
Het |
| Itga1 |
G |
T |
13: 115,096,673 (GRCm39) |
|
probably null |
Het |
| Katnip |
C |
T |
7: 125,472,006 (GRCm39) |
H1532Y |
probably benign |
Het |
| Krt77 |
A |
C |
15: 101,773,988 (GRCm39) |
I222S |
probably damaging |
Het |
| Mrps25 |
A |
G |
6: 92,160,819 (GRCm39) |
|
probably null |
Het |
| Mrps27 |
A |
G |
13: 99,548,754 (GRCm39) |
T297A |
probably benign |
Het |
| Mup15 |
A |
T |
4: 61,357,850 (GRCm39) |
L7Q |
unknown |
Het |
| Naip1 |
T |
A |
13: 100,562,169 (GRCm39) |
I999F |
probably damaging |
Het |
| Ndst1 |
A |
G |
18: 60,836,901 (GRCm39) |
F387L |
probably damaging |
Het |
| Nudt9 |
T |
C |
5: 104,202,151 (GRCm39) |
S71P |
probably damaging |
Het |
| Or14c41 |
C |
A |
7: 86,235,245 (GRCm39) |
A254D |
probably benign |
Het |
| Or2b4 |
A |
G |
17: 38,116,432 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or5al1 |
T |
G |
2: 85,990,380 (GRCm39) |
E111D |
probably damaging |
Het |
| Pak4 |
C |
T |
7: 28,264,690 (GRCm39) |
V71I |
possibly damaging |
Het |
| Pcolce |
A |
C |
5: 137,603,496 (GRCm39) |
S446A |
probably benign |
Het |
| Per2 |
T |
A |
1: 91,349,251 (GRCm39) |
N1040I |
probably damaging |
Het |
| Pla2g6 |
A |
T |
15: 79,188,592 (GRCm39) |
S422T |
probably benign |
Het |
| Pla2r1 |
G |
T |
2: 60,332,543 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
T |
C |
2: 135,752,094 (GRCm39) |
V100A |
possibly damaging |
Het |
| Polr1d |
C |
T |
5: 147,015,533 (GRCm39) |
T72M |
probably benign |
Het |
| Psd3 |
A |
C |
8: 68,270,791 (GRCm39) |
|
probably benign |
Het |
| Rnf150 |
A |
G |
8: 83,591,093 (GRCm39) |
N152S |
possibly damaging |
Het |
| Serpina1b |
T |
A |
12: 103,695,515 (GRCm39) |
|
probably null |
Het |
| Setd3 |
C |
T |
12: 108,124,114 (GRCm39) |
E192K |
probably benign |
Het |
| Ssu2 |
G |
A |
6: 112,351,781 (GRCm39) |
H315Y |
probably damaging |
Het |
| Taok3 |
T |
A |
5: 117,410,262 (GRCm39) |
M818K |
probably benign |
Het |
| Tmem131l |
T |
C |
3: 83,829,471 (GRCm39) |
N1062S |
probably benign |
Het |
| Tmx4 |
C |
T |
2: 134,481,425 (GRCm39) |
|
probably benign |
Het |
| Traip |
G |
A |
9: 107,845,933 (GRCm39) |
C342Y |
probably benign |
Het |
| Traj9 |
G |
T |
14: 54,446,890 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vegfc |
T |
C |
8: 54,634,289 (GRCm39) |
S323P |
probably benign |
Het |
| Vinac1 |
T |
C |
2: 128,879,301 (GRCm39) |
D875G |
possibly damaging |
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 |
|
|
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'- TCTAGGACCTGGTTGAGGAG -3'
(R):5'- TTCTAGGTGACTGCCATGTCC -3'
Sequencing Primer
(F):5'- TTGAGGAGCAGTGTGCCAG -3'
(R):5'- GACTGCCATGTCCAGCCTC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation