Incidental Mutation 'R6881:Radil'
| ID |
536661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Radil
|
| Ensembl Gene |
ENSMUSG00000029576 |
| Gene Name |
Ras association and DIL domains |
| Synonyms |
D930005D10Rik |
| MMRRC Submission |
045030-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6881 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
142470594-142536853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142472672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 913
(S913P)
|
| 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: S890P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000064539
Gene: ENSMUSG00000029576
AA Change: S890P
| 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: S919P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000082910
Gene: ENSMUSG00000029576
AA Change: S919P
| 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: S650P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106411
Gene: ENSMUSG00000029576
AA Change: S650P
| 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: S913P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106412
Gene: ENSMUSG00000029576
AA Change: S913P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
A |
C |
9: 15,202,061 (GRCm39) |
C187G |
possibly damaging |
Het |
| Abhd16a |
C |
T |
17: 35,315,577 (GRCm39) |
T208I |
probably benign |
Het |
| Ahcyl1 |
A |
T |
3: 107,575,425 (GRCm39) |
H425Q |
probably damaging |
Het |
| Ankrd22 |
T |
A |
19: 34,126,782 (GRCm39) |
N16I |
probably damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,813,483 (GRCm39) |
E1321G |
probably damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,799,028 (GRCm39) |
E35G |
probably damaging |
Het |
| Chsy3 |
A |
G |
18: 59,312,480 (GRCm39) |
I318V |
probably damaging |
Het |
| Clrn2 |
G |
A |
5: 45,611,164 (GRCm39) |
W4* |
probably null |
Het |
| Cmip |
T |
C |
8: 118,163,334 (GRCm39) |
I355T |
possibly damaging |
Het |
| Cmya5 |
C |
T |
13: 93,226,800 (GRCm39) |
V2763M |
probably damaging |
Het |
| Cnnm2 |
T |
C |
19: 46,865,658 (GRCm39) |
S749P |
probably damaging |
Het |
| Cyp1a1 |
G |
T |
9: 57,608,002 (GRCm39) |
R210L |
possibly damaging |
Het |
| Dmxl1 |
G |
A |
18: 50,068,372 (GRCm39) |
S2715N |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,590,995 (GRCm39) |
L1021P |
probably damaging |
Het |
| Ecm2 |
C |
T |
13: 49,683,818 (GRCm39) |
Q599* |
probably null |
Het |
| Galnt11 |
G |
T |
5: 25,455,097 (GRCm39) |
K144N |
possibly damaging |
Het |
| Gm45861 |
A |
G |
8: 28,025,279 (GRCm39) |
|
probably null |
Het |
| Kcnk18 |
T |
A |
19: 59,208,390 (GRCm39) |
D75E |
probably benign |
Het |
| Kcnk2 |
C |
T |
1: 188,942,187 (GRCm39) |
V346M |
probably benign |
Het |
| Klhl33 |
T |
A |
14: 51,128,929 (GRCm39) |
M767L |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,925,665 (GRCm39) |
I1898T |
possibly damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lamp3 |
T |
C |
16: 19,518,368 (GRCm39) |
T290A |
probably benign |
Het |
| Larp1 |
T |
A |
11: 57,940,849 (GRCm39) |
D658E |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,326,246 (GRCm39) |
I3521F |
probably damaging |
Het |
| Med12l |
T |
C |
3: 59,174,586 (GRCm39) |
S1835P |
probably benign |
Het |
| Mef2c |
C |
A |
13: 83,741,061 (GRCm39) |
N73K |
probably damaging |
Het |
| Mtmr3 |
T |
C |
11: 4,439,725 (GRCm39) |
S572G |
probably benign |
Het |
| Neto2 |
A |
T |
8: 86,367,185 (GRCm39) |
S520T |
probably damaging |
Het |
| Or10ak16 |
A |
G |
4: 118,750,304 (GRCm39) |
N8S |
probably damaging |
Het |
| Or1o4 |
A |
G |
17: 37,591,200 (GRCm39) |
L37S |
probably benign |
Het |
| Or4c110 |
A |
T |
2: 88,832,281 (GRCm39) |
M117K |
probably damaging |
Het |
| P3h2 |
G |
A |
16: 25,811,495 (GRCm39) |
R243C |
probably damaging |
Het |
| Pld1 |
T |
C |
3: 28,132,563 (GRCm39) |
S584P |
possibly damaging |
Het |
| Prkcz |
T |
C |
4: 155,353,513 (GRCm39) |
N278S |
possibly damaging |
Het |
| Retreg2 |
A |
C |
1: 75,123,083 (GRCm39) |
Q337P |
probably damaging |
Het |
| Sh3gl3 |
A |
G |
7: 81,956,178 (GRCm39) |
E305G |
possibly damaging |
Het |
| Shank1 |
G |
T |
7: 44,001,217 (GRCm39) |
D979Y |
unknown |
Het |
| Slc35a5 |
A |
T |
16: 44,964,443 (GRCm39) |
N263K |
possibly damaging |
Het |
| Slc4a7 |
A |
T |
14: 14,737,452 (GRCm38) |
M127L |
probably benign |
Het |
| Slc8a2 |
G |
A |
7: 15,891,282 (GRCm39) |
G774E |
probably damaging |
Het |
| Smim45 |
C |
A |
15: 82,143,786 (GRCm39) |
H3N |
possibly damaging |
Het |
| Snap91 |
A |
G |
9: 86,655,646 (GRCm39) |
S847P |
possibly damaging |
Het |
| Stoml1 |
T |
C |
9: 58,168,177 (GRCm39) |
L296P |
probably damaging |
Het |
| Tap1 |
G |
T |
17: 34,407,008 (GRCm39) |
G52V |
probably damaging |
Het |
| Tent4b |
T |
C |
8: 88,977,416 (GRCm39) |
V363A |
possibly damaging |
Het |
| Tnfrsf11b |
T |
C |
15: 54,117,539 (GRCm39) |
R239G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,536,846 (GRCm39) |
Y34993C |
probably damaging |
Het |
| Uchl1 |
T |
C |
5: 66,841,065 (GRCm39) |
F165L |
probably damaging |
Het |
| Xrcc1 |
C |
T |
7: 24,246,776 (GRCm39) |
Q15* |
probably null |
Het |
| Zkscan7 |
C |
G |
9: 122,717,766 (GRCm39) |
Q54E |
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 |
|
|
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 |
|
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'- CTGCTATCAAGACACAAGGGAG -3'
(R):5'- ACACAATTCCTGAGGGCCATC -3'
Sequencing Primer
(F):5'- TCTGCTACCCAATCGTGAGCAG -3'
(R):5'- ATTCCTGAGGGCCATCTGGAAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation