Incidental Mutation 'R7607:Radil'
ID |
588358 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Radil
|
Ensembl Gene |
ENSMUSG00000029576 |
Gene Name |
Ras association and DIL domains |
Synonyms |
D930005D10Rik |
MMRRC Submission |
045677-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7607 (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 T
at 142480550 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 635
(M635K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064539
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063635]
[ENSMUST00000085758]
[ENSMUST00000110784]
[ENSMUST00000110785]
|
AlphaFold |
Q69Z89 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063635
AA Change: M635K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000064539 Gene: ENSMUSG00000029576 AA Change: M635K
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: M664K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000082910 Gene: ENSMUSG00000029576 AA Change: M664K
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: M395K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106411 Gene: ENSMUSG00000029576 AA Change: M395K
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: M635K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106412 Gene: ENSMUSG00000029576 AA Change: M635K
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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
99% (69/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610010K14Rik |
A |
T |
11: 70,128,383 (GRCm39) |
H30Q |
probably damaging |
Het |
A930009A15Rik |
G |
A |
10: 115,417,894 (GRCm39) |
|
probably null |
Het |
Abca7 |
T |
C |
10: 79,847,667 (GRCm39) |
L1779P |
probably damaging |
Het |
Aff1 |
G |
A |
5: 103,997,325 (GRCm39) |
V1140I |
possibly damaging |
Het |
Ano2 |
C |
T |
6: 125,689,382 (GRCm39) |
A169V |
probably damaging |
Het |
Atat1 |
T |
C |
17: 36,219,999 (GRCm39) |
Y101C |
possibly damaging |
Het |
Atp6v1c1 |
T |
C |
15: 38,683,255 (GRCm39) |
|
probably null |
Het |
Atp7b |
T |
G |
8: 22,501,522 (GRCm39) |
K912T |
probably damaging |
Het |
Ceacam14 |
T |
C |
7: 17,548,246 (GRCm39) |
V112A |
possibly damaging |
Het |
Cfap107 |
T |
A |
4: 144,146,332 (GRCm39) |
H107L |
probably damaging |
Het |
Cobll1 |
T |
C |
2: 64,926,201 (GRCm39) |
N1119S |
probably benign |
Het |
Csmd1 |
G |
T |
8: 15,968,331 (GRCm39) |
Q3099K |
possibly damaging |
Het |
Cyp3a25 |
A |
G |
5: 145,921,791 (GRCm39) |
V381A |
possibly damaging |
Het |
Dctn1 |
C |
T |
6: 83,172,051 (GRCm39) |
R948* |
probably null |
Het |
Dhrs3 |
A |
G |
4: 144,650,510 (GRCm39) |
T219A |
probably benign |
Het |
Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
Esrp1 |
A |
G |
4: 11,384,449 (GRCm39) |
V78A |
probably damaging |
Het |
Evc2 |
A |
G |
5: 37,544,200 (GRCm39) |
T650A |
possibly damaging |
Het |
Exoc6b |
T |
A |
6: 84,966,391 (GRCm39) |
K194N |
possibly damaging |
Het |
Fer1l6 |
G |
A |
15: 58,534,581 (GRCm39) |
W1809* |
probably null |
Het |
Frmd4a |
T |
A |
2: 4,596,747 (GRCm39) |
L156* |
probably null |
Het |
Gk5 |
A |
T |
9: 96,035,263 (GRCm39) |
|
probably null |
Het |
Gm3573 |
A |
G |
14: 42,011,707 (GRCm39) |
F8L |
probably benign |
Het |
Gm9767 |
G |
A |
10: 25,954,838 (GRCm39) |
C130Y |
unknown |
Het |
Grip2 |
T |
C |
6: 91,765,393 (GRCm39) |
T30A |
probably benign |
Het |
Gskip |
C |
A |
12: 105,665,156 (GRCm39) |
A65E |
possibly damaging |
Het |
Gtf2e2 |
A |
G |
8: 34,266,493 (GRCm39) |
R259G |
probably benign |
Het |
Gucy1b2 |
T |
A |
14: 62,656,626 (GRCm39) |
I244F |
probably damaging |
Het |
Gxylt2 |
G |
T |
6: 100,775,151 (GRCm39) |
V357L |
possibly damaging |
Het |
Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
Igdcc4 |
C |
T |
9: 65,041,040 (GRCm39) |
P1024S |
possibly damaging |
Het |
Ino80 |
A |
T |
2: 119,212,750 (GRCm39) |
|
probably null |
Het |
Knl1 |
T |
C |
2: 118,925,614 (GRCm39) |
F1881S |
possibly damaging |
Het |
Mbd6 |
T |
C |
10: 127,121,099 (GRCm39) |
E518G |
unknown |
Het |
Mlh1 |
A |
G |
9: 111,058,958 (GRCm39) |
S689P |
probably damaging |
Het |
Mmrn2 |
T |
C |
14: 34,120,897 (GRCm39) |
I589T |
possibly damaging |
Het |
Mtmr12 |
C |
T |
15: 12,257,794 (GRCm39) |
Q291* |
probably null |
Het |
Mup8 |
T |
A |
4: 60,222,035 (GRCm39) |
I33F |
probably benign |
Het |
Mylk |
C |
T |
16: 34,715,184 (GRCm39) |
P504L |
probably benign |
Het |
Ntrk3 |
C |
T |
7: 77,900,621 (GRCm39) |
A573T |
probably benign |
Het |
Obscn |
G |
T |
11: 58,889,091 (GRCm39) |
S7560R |
unknown |
Het |
Or1m1 |
A |
G |
9: 18,666,178 (GRCm39) |
F251S |
possibly damaging |
Het |
Or52z12 |
A |
C |
7: 103,234,137 (GRCm39) |
T303P |
probably damaging |
Het |
Pde1c |
T |
C |
6: 56,127,613 (GRCm39) |
T391A |
probably damaging |
Het |
Pla2g4d |
T |
A |
2: 120,119,457 (GRCm39) |
H19L |
probably benign |
Het |
Plce1 |
C |
A |
19: 38,513,196 (GRCm39) |
A165E |
probably benign |
Het |
Polr1a |
T |
C |
6: 71,890,005 (GRCm39) |
S75P |
probably benign |
Het |
Psg21 |
T |
C |
7: 18,388,708 (GRCm39) |
E128G |
probably benign |
Het |
Rnase11 |
G |
A |
14: 51,287,029 (GRCm39) |
T175I |
probably damaging |
Het |
Robo1 |
C |
T |
16: 72,360,626 (GRCm39) |
P13S |
|
Het |
Slc18a2 |
C |
A |
19: 59,272,790 (GRCm39) |
A364D |
probably benign |
Het |
Snph |
C |
T |
2: 151,436,506 (GRCm39) |
D141N |
probably damaging |
Het |
Snrnp70 |
T |
C |
7: 45,041,688 (GRCm39) |
K70R |
possibly damaging |
Het |
Snx33 |
T |
C |
9: 56,833,997 (GRCm39) |
D24G |
probably benign |
Het |
Spag6 |
T |
A |
2: 18,736,773 (GRCm39) |
D165E |
possibly damaging |
Het |
Spata31 |
T |
G |
13: 65,069,406 (GRCm39) |
L518R |
probably damaging |
Het |
Spata31e3 |
T |
C |
13: 50,404,296 (GRCm39) |
E2G |
possibly damaging |
Het |
Sspo |
G |
A |
6: 48,466,661 (GRCm39) |
V4059M |
probably damaging |
Het |
St6galnac2 |
T |
C |
11: 116,570,805 (GRCm39) |
Y261C |
probably damaging |
Het |
Stoml1 |
A |
G |
9: 58,163,941 (GRCm39) |
R87G |
probably damaging |
Het |
Suv39h2 |
T |
C |
2: 3,475,866 (GRCm39) |
T40A |
unknown |
Het |
Terb2 |
G |
T |
2: 122,016,956 (GRCm39) |
G26W |
probably damaging |
Het |
Tmem62 |
T |
C |
2: 120,826,921 (GRCm39) |
I406T |
probably benign |
Het |
Tnfrsf11a |
G |
A |
1: 105,772,458 (GRCm39) |
V582I |
probably benign |
Het |
Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
Unc13c |
T |
C |
9: 73,576,817 (GRCm39) |
D1480G |
probably damaging |
Het |
Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
Vmn1r48 |
C |
A |
6: 90,012,962 (GRCm39) |
V288L |
probably benign |
Het |
Vmn2r13 |
A |
G |
5: 109,321,506 (GRCm39) |
V397A |
probably damaging |
Het |
Vmn2r98 |
A |
G |
17: 19,287,570 (GRCm39) |
N468D |
possibly damaging |
Het |
Zfhx2 |
G |
T |
14: 55,303,688 (GRCm39) |
T1432K |
possibly damaging |
Het |
Zswim5 |
T |
A |
4: 116,843,939 (GRCm39) |
D992E |
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 |
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 |
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'- TCCTACCCTGGGTTTTGAGC -3'
(R):5'- AGTCCCAGCATCTCTGTCAGTG -3'
Sequencing Primer
(F):5'- GGTTTTGAGCCATCCTACCACAG -3'
(R):5'- AGCATCTCTGTCAGTGGCTCTTG -3'
|
Posted On |
2019-10-24 |