Incidental Mutation 'IGL02250:Radil'
| ID |
286359 |
| 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 # |
IGL02250
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
142470594-142536853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142529529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 56
(S56P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063635]
[ENSMUST00000085758]
[ENSMUST00000110785]
[ENSMUST00000129212]
|
| AlphaFold |
Q69Z89 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063635
AA Change: S56P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064539
Gene: ENSMUSG00000029576
AA Change: S56P
| 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: S85P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082910
Gene: ENSMUSG00000029576
AA Change: S85P
| 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: ENSMUST00000110785
AA Change: S56P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106412
Gene: ENSMUSG00000029576
AA Change: S56P
| 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 damaging
Transcript: ENSMUST00000129212
AA Change: S56P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115800
Gene: ENSMUSG00000029576
AA Change: S56P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RA
|
61 |
107 |
5.4e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139824
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp7 |
T |
A |
7: 28,329,135 (GRCm39) |
|
probably benign |
Het |
| Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
| Areg |
T |
A |
5: 91,288,967 (GRCm39) |
I91K |
possibly damaging |
Het |
| Arf1 |
G |
A |
11: 59,103,993 (GRCm39) |
R79C |
probably benign |
Het |
| Bbs2 |
A |
T |
8: 94,819,054 (GRCm39) |
I105N |
probably benign |
Het |
| Ccdc158 |
A |
T |
5: 92,756,337 (GRCm39) |
I1090N |
probably damaging |
Het |
| Ccdc90b |
T |
A |
7: 92,223,823 (GRCm39) |
|
probably benign |
Het |
| Cep57 |
A |
T |
9: 13,721,939 (GRCm39) |
F221I |
probably damaging |
Het |
| Ckap5 |
C |
T |
2: 91,379,246 (GRCm39) |
A62V |
probably damaging |
Het |
| Cntn5 |
G |
A |
9: 10,145,336 (GRCm39) |
R125C |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cxxc1 |
T |
A |
18: 74,352,240 (GRCm39) |
D321E |
probably benign |
Het |
| Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
| Dnm1l |
A |
G |
16: 16,139,550 (GRCm39) |
|
probably benign |
Het |
| Eif2d |
T |
A |
1: 131,088,166 (GRCm39) |
S184T |
probably benign |
Het |
| Emcn |
T |
A |
3: 137,124,747 (GRCm39) |
|
probably benign |
Het |
| Fry |
A |
T |
5: 150,326,899 (GRCm39) |
|
probably benign |
Het |
| Gas2 |
T |
A |
7: 51,537,786 (GRCm39) |
M37K |
probably damaging |
Het |
| Habp2 |
A |
G |
19: 56,297,361 (GRCm39) |
S100G |
probably benign |
Het |
| Kcnj5 |
A |
G |
9: 32,229,052 (GRCm39) |
C49R |
probably damaging |
Het |
| Lhx2 |
T |
A |
2: 38,244,845 (GRCm39) |
D236E |
probably benign |
Het |
| Megf8 |
T |
A |
7: 25,042,000 (GRCm39) |
S1273T |
probably benign |
Het |
| Mrps2 |
T |
C |
2: 28,359,557 (GRCm39) |
I138T |
possibly damaging |
Het |
| Mta1 |
T |
C |
12: 113,090,418 (GRCm39) |
S175P |
possibly damaging |
Het |
| Npat |
T |
A |
9: 53,460,251 (GRCm39) |
Y66* |
probably null |
Het |
| Nup160 |
A |
G |
2: 90,539,214 (GRCm39) |
R798G |
probably damaging |
Het |
| Or52n2c |
T |
C |
7: 104,574,222 (GRCm39) |
I250V |
probably damaging |
Het |
| Or8b54 |
C |
A |
9: 38,686,850 (GRCm39) |
Q100K |
probably damaging |
Het |
| Plxnc1 |
C |
T |
10: 94,706,893 (GRCm39) |
G548E |
probably benign |
Het |
| Rpgrip1l |
A |
T |
8: 91,959,489 (GRCm39) |
M1137K |
probably benign |
Het |
| Serpina1c |
T |
G |
12: 103,863,487 (GRCm39) |
M238L |
probably benign |
Het |
| Tbc1d14 |
A |
G |
5: 36,728,863 (GRCm39) |
S168P |
probably damaging |
Het |
| Tmem209 |
A |
G |
6: 30,487,387 (GRCm39) |
S498P |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,312,135 (GRCm39) |
Y607H |
probably damaging |
Het |
| Vipr1 |
A |
G |
9: 121,494,255 (GRCm39) |
I279V |
probably benign |
Het |
| Vmn2r67 |
T |
G |
7: 84,805,008 (GRCm39) |
N35H |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,344,356 (GRCm39) |
T2199I |
probably benign |
Het |
| Zfp423 |
A |
G |
8: 88,509,883 (GRCm39) |
S86P |
probably damaging |
Het |
| Zfp831 |
A |
G |
2: 174,489,994 (GRCm39) |
K1254E |
possibly damaging |
Het |
| Zfp873 |
T |
A |
10: 81,894,252 (GRCm39) |
M1K |
probably null |
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 |
|
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 |
|
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