Incidental Mutation 'R6147:Radil'
| ID |
488938 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Radil
|
| Ensembl Gene |
ENSMUSG00000029576 |
| Gene Name |
Ras association and DIL domains |
| Synonyms |
D930005D10Rik |
| MMRRC Submission |
044294-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6147 (G1)
|
| Quality Score |
196.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
142470594-142536853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 142483695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 264
(H264Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063635]
[ENSMUST00000085758]
[ENSMUST00000110784]
[ENSMUST00000110785]
|
| AlphaFold |
Q69Z89 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063635
AA Change: H504Y
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000064539
Gene: ENSMUSG00000029576
AA Change: H504Y
| 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: H533Y
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000082910
Gene: ENSMUSG00000029576
AA Change: H533Y
| 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: H264Y
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000106411
Gene: ENSMUSG00000029576
AA Change: H264Y
| 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: H504Y
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000106412
Gene: ENSMUSG00000029576
AA Change: H504Y
| 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
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 97.1%
- 20x: 92.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
C |
T |
1: 127,657,157 (GRCm39) |
|
probably benign |
Het |
| Acsf3 |
T |
A |
8: 123,508,213 (GRCm39) |
D236E |
probably damaging |
Het |
| Aqp1 |
G |
T |
6: 55,313,595 (GRCm39) |
E40D |
probably benign |
Het |
| Arfgef2 |
A |
G |
2: 166,713,415 (GRCm39) |
D1272G |
probably damaging |
Het |
| Arfip1 |
A |
G |
3: 84,436,485 (GRCm39) |
V97A |
probably benign |
Het |
| Atp6v1b2 |
T |
A |
8: 69,555,134 (GRCm39) |
Y165* |
probably null |
Het |
| Bclaf1 |
T |
A |
10: 20,199,171 (GRCm39) |
D189E |
possibly damaging |
Het |
| Camsap2 |
G |
A |
1: 136,273,138 (GRCm39) |
T13M |
probably damaging |
Het |
| Cblif |
G |
A |
19: 11,724,936 (GRCm39) |
|
probably benign |
Het |
| Cntn5 |
T |
A |
9: 10,012,894 (GRCm39) |
Y297F |
probably damaging |
Het |
| Cntnap5b |
G |
A |
1: 99,978,506 (GRCm39) |
C174Y |
probably damaging |
Het |
| Cntrl |
A |
C |
2: 35,055,745 (GRCm39) |
D1213A |
possibly damaging |
Het |
| Comtd1 |
C |
A |
14: 21,898,883 (GRCm39) |
A20S |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,796,056 (GRCm39) |
R1264W |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dlgap2 |
T |
A |
8: 14,777,294 (GRCm39) |
C180S |
probably benign |
Het |
| Ednra |
C |
T |
8: 78,393,951 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
T |
C |
11: 104,858,566 (GRCm39) |
V3875A |
unknown |
Het |
| Ephb6 |
A |
T |
6: 41,593,715 (GRCm39) |
S533C |
probably damaging |
Het |
| Fndc1 |
A |
T |
17: 7,972,594 (GRCm39) |
|
probably null |
Het |
| Gm12185 |
A |
G |
11: 48,806,717 (GRCm39) |
I158T |
probably benign |
Het |
| Gm14325 |
A |
T |
2: 177,474,600 (GRCm39) |
C161S |
probably damaging |
Het |
| Ighv9-1 |
T |
A |
12: 114,057,840 (GRCm39) |
Q20L |
probably damaging |
Het |
| Khnyn |
G |
C |
14: 56,125,060 (GRCm39) |
S438T |
probably damaging |
Het |
| Krt9 |
T |
C |
11: 100,079,665 (GRCm39) |
S576G |
unknown |
Het |
| Lrriq4 |
A |
T |
3: 30,713,228 (GRCm39) |
N443I |
probably damaging |
Het |
| Luzp1 |
A |
G |
4: 136,268,374 (GRCm39) |
Y199C |
probably damaging |
Het |
| Map2k3 |
T |
A |
11: 60,840,776 (GRCm39) |
Y268* |
probably null |
Het |
| Men1 |
T |
A |
19: 6,387,272 (GRCm39) |
D248E |
probably damaging |
Het |
| Mfsd4b2 |
A |
T |
10: 39,797,573 (GRCm39) |
C261S |
probably benign |
Het |
| Mpeg1 |
T |
G |
19: 12,440,258 (GRCm39) |
I572S |
probably damaging |
Het |
| Mrgprb2 |
A |
G |
7: 48,202,113 (GRCm39) |
V204A |
possibly damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,392,945 (GRCm39) |
C805* |
probably null |
Het |
| Nphs2 |
A |
T |
1: 156,146,296 (GRCm39) |
K91* |
probably null |
Het |
| Obox3 |
A |
G |
7: 15,359,926 (GRCm39) |
S248P |
probably damaging |
Het |
| Or12d17 |
T |
C |
17: 37,777,430 (GRCm39) |
I111T |
probably benign |
Het |
| Or5w19 |
C |
T |
2: 87,699,061 (GRCm39) |
T242I |
probably benign |
Het |
| Or8k22 |
A |
T |
2: 86,162,844 (GRCm39) |
N285K |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pan3 |
T |
C |
5: 147,485,093 (GRCm39) |
|
probably benign |
Het |
| Pate10 |
A |
G |
9: 35,653,528 (GRCm39) |
T111A |
possibly damaging |
Het |
| Pate10 |
A |
T |
9: 35,653,406 (GRCm39) |
Y70F |
possibly damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,453,779 (GRCm39) |
L53Q |
probably damaging |
Het |
| Pcdhb9 |
G |
T |
18: 37,535,494 (GRCm39) |
R496L |
possibly damaging |
Het |
| Peg10 |
C |
T |
6: 4,754,499 (GRCm39) |
|
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,690,481 (GRCm39) |
K722E |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,630,302 (GRCm39) |
S489P |
probably damaging |
Het |
| Plekhg3 |
T |
C |
12: 76,611,985 (GRCm39) |
V362A |
probably damaging |
Het |
| Prorp |
A |
G |
12: 55,426,093 (GRCm39) |
Y168C |
probably damaging |
Het |
| Ranbp2 |
C |
A |
10: 58,315,250 (GRCm39) |
T1990K |
probably damaging |
Het |
| Rnf207 |
T |
C |
4: 152,400,112 (GRCm39) |
D192G |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,785,339 (GRCm39) |
F1784Y |
possibly damaging |
Het |
| Set |
T |
A |
2: 29,956,836 (GRCm39) |
S2T |
probably benign |
Het |
| Slc26a2 |
T |
A |
18: 61,334,757 (GRCm39) |
Y232F |
probably damaging |
Het |
| Sntb1 |
T |
A |
15: 55,511,406 (GRCm39) |
M393L |
probably benign |
Het |
| Stx16 |
A |
G |
2: 173,932,480 (GRCm39) |
T18A |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,684,216 (GRCm39) |
S585T |
possibly damaging |
Het |
| Sult2a7 |
T |
C |
7: 14,199,088 (GRCm39) |
E313G |
probably damaging |
Het |
| Tbck |
A |
G |
3: 132,400,207 (GRCm39) |
K86R |
probably benign |
Het |
| Tom1 |
A |
T |
8: 75,781,320 (GRCm39) |
Q255L |
possibly damaging |
Het |
| Trbv4 |
A |
G |
6: 41,036,637 (GRCm39) |
Y54C |
probably damaging |
Het |
| Trim34a |
A |
T |
7: 103,910,398 (GRCm39) |
Q400L |
probably damaging |
Het |
| Trim42 |
G |
T |
9: 97,245,382 (GRCm39) |
H473N |
probably benign |
Het |
| Tsbp1 |
T |
C |
17: 34,637,897 (GRCm39) |
S31P |
possibly damaging |
Het |
| Tshr |
T |
A |
12: 91,505,009 (GRCm39) |
M649K |
possibly damaging |
Het |
| Vmn2r11 |
C |
T |
5: 109,202,700 (GRCm39) |
V126M |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,930,177 (GRCm39) |
H3971Q |
probably benign |
Het |
| Wdr75 |
T |
A |
1: 45,858,698 (GRCm39) |
N622K |
probably benign |
Het |
| Wdr93 |
A |
T |
7: 79,408,245 (GRCm39) |
Q242L |
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 |
|
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 |
|
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'- GTGTGATCCCCAAATGGCTG -3'
(R):5'- TGACAACGGTATTTGCTTCTGTTAG -3'
Sequencing Primer
(F):5'- AAGAAGGCTCCACCCTGTGTAG -3'
(R):5'- AGTGTCCCATGAGATGACTGTCC -3'
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| Posted On |
2017-10-10 |
Incidental Mutation