Incidental Mutation 'IGL02296:Radil'
| ID |
290167 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Radil
|
| Ensembl Gene |
ENSMUSG00000029576 |
| Gene Name |
Ras association and DIL domains |
| Synonyms |
D930005D10Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02296
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
142470594-142536853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142492218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 470
(V470A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106412
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063635]
[ENSMUST00000085758]
[ENSMUST00000110784]
[ENSMUST00000110785]
[ENSMUST00000139278]
|
| AlphaFold |
Q69Z89 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063635
AA Change: V470A
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000064539
Gene: ENSMUSG00000029576
AA Change: V470A
| 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: V499A
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000082910
Gene: ENSMUSG00000029576
AA Change: V499A
| 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: V230A
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000106411
Gene: ENSMUSG00000029576
AA Change: V230A
| 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: V470A
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000106412
Gene: ENSMUSG00000029576
AA Change: V470A
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139824
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402D24Rik |
T |
A |
1: 63,808,344 (GRCm39) |
R7S |
unknown |
Het |
| Acss3 |
A |
T |
10: 106,889,312 (GRCm39) |
Y169* |
probably null |
Het |
| Anln |
T |
C |
9: 22,283,483 (GRCm39) |
K450R |
possibly damaging |
Het |
| Armc10 |
A |
T |
5: 21,865,631 (GRCm39) |
R225S |
probably benign |
Het |
| Cbfb |
T |
A |
8: 105,905,312 (GRCm39) |
Y85N |
probably damaging |
Het |
| Col13a1 |
G |
T |
10: 61,697,804 (GRCm39) |
|
probably benign |
Het |
| Dclk2 |
T |
C |
3: 86,700,600 (GRCm39) |
I626V |
probably damaging |
Het |
| Epb41 |
G |
A |
4: 131,731,065 (GRCm39) |
T172M |
probably benign |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Glyat |
A |
T |
19: 12,628,625 (GRCm39) |
D140V |
probably damaging |
Het |
| Hikeshi |
A |
T |
7: 89,585,130 (GRCm39) |
F25I |
probably damaging |
Het |
| Ifi204 |
A |
G |
1: 173,576,880 (GRCm39) |
Y574H |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,574,317 (GRCm39) |
R501* |
probably null |
Het |
| Kdm4a |
T |
C |
4: 118,034,662 (GRCm39) |
E23G |
probably damaging |
Het |
| Map3k19 |
C |
T |
1: 127,751,983 (GRCm39) |
S456N |
probably damaging |
Het |
| Mgat4c |
A |
G |
10: 102,221,021 (GRCm39) |
|
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,878,200 (GRCm39) |
N289S |
possibly damaging |
Het |
| Obsl1 |
G |
T |
1: 75,474,793 (GRCm39) |
A674D |
possibly damaging |
Het |
| Or1e25 |
A |
T |
11: 73,493,532 (GRCm39) |
N42I |
probably damaging |
Het |
| Or51i1 |
A |
T |
7: 103,671,311 (GRCm39) |
|
probably null |
Het |
| Pak2 |
T |
C |
16: 31,862,820 (GRCm39) |
|
probably null |
Het |
| Pde4a |
A |
T |
9: 21,103,865 (GRCm39) |
N138I |
possibly damaging |
Het |
| Per1 |
A |
G |
11: 68,993,001 (GRCm39) |
D286G |
probably damaging |
Het |
| Pramel23 |
G |
A |
4: 143,425,051 (GRCm39) |
Q131* |
probably null |
Het |
| Prdx2 |
T |
A |
8: 85,700,681 (GRCm39) |
D188E |
probably benign |
Het |
| Ptgis |
T |
C |
2: 167,048,657 (GRCm39) |
K453R |
probably damaging |
Het |
| Rgs12 |
A |
G |
5: 35,123,464 (GRCm39) |
S416G |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,354,162 (GRCm39) |
H4013R |
probably benign |
Het |
| Ttc17 |
A |
G |
2: 94,208,055 (GRCm39) |
L185P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,542,768 (GRCm39) |
I33406T |
probably damaging |
Het |
| Ube2e1 |
A |
G |
14: 18,331,062 (GRCm38) |
|
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation