Incidental Mutation 'R4043:Radil'
ID 313922
Institutional Source Beutler Lab
Gene Symbol Radil
Ensembl Gene ENSMUSG00000029576
Gene Name Ras association and DIL domains
Synonyms D930005D10Rik
MMRRC Submission 041615-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4043 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 142470594-142536853 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 142479988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 471 (I471F)
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: I711F

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000064539
Gene: ENSMUSG00000029576
AA Change: I711F

DomainStartEndE-ValueType
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: I740F

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000082910
Gene: ENSMUSG00000029576
AA Change: I740F

DomainStartEndE-ValueType
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: I471F

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106411
Gene: ENSMUSG00000029576
AA Change: I471F

DomainStartEndE-ValueType
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: I711F

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106412
Gene: ENSMUSG00000029576
AA Change: I711F

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.2852 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 92.9%
Validation Efficiency 97% (64/66)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 T C 5: 30,409,360 (GRCm39) N44D probably benign Het
AU018091 A G 7: 3,208,962 (GRCm39) F375L probably damaging Het
Bsph1 G T 7: 13,192,201 (GRCm39) probably null Het
Casp1 A G 9: 5,302,444 (GRCm39) D122G probably benign Het
Ccdc146 C T 5: 21,521,941 (GRCm39) C361Y probably benign Het
Cdc37l1 T C 19: 28,968,028 (GRCm39) S31P possibly damaging Het
Cdca2 A T 14: 67,941,455 (GRCm39) M249K probably benign Het
Cfap73 C T 5: 120,768,030 (GRCm39) probably null Het
Cgnl1 A G 9: 71,612,575 (GRCm39) L749S probably damaging Het
Cmtr2 C A 8: 110,948,462 (GRCm39) C257* probably null Het
Col6a4 A T 9: 105,949,610 (GRCm39) L675* probably null Het
Cpne8 A T 15: 90,456,204 (GRCm39) D186E probably damaging Het
Csmd3 A G 15: 47,619,362 (GRCm39) probably null Het
Daglb T A 5: 143,472,906 (GRCm39) Y354N possibly damaging Het
Dlgap1 T C 17: 71,068,075 (GRCm39) S549P probably damaging Het
Dnah11 T C 12: 117,843,678 (GRCm39) D4389G probably damaging Het
Dst T A 1: 34,229,765 (GRCm39) C2631S probably benign Het
Gimap1 T A 6: 48,720,176 (GRCm39) W263R probably damaging Het
Gne A C 4: 44,040,383 (GRCm39) C594G possibly damaging Het
Gtf2a1 T C 12: 91,542,441 (GRCm39) H47R probably benign Het
Hdac6 T C X: 7,797,731 (GRCm39) T993A probably benign Het
Helz2 T C 2: 180,871,503 (GRCm39) D2703G probably benign Het
Jmjd1c G A 10: 67,055,245 (GRCm39) V222I possibly damaging Het
Katnip A G 7: 125,467,913 (GRCm39) I1366V probably benign Het
Kndc1 A G 7: 139,504,044 (GRCm39) E1116G probably benign Het
Krt10 C T 11: 99,277,819 (GRCm39) probably null Het
Lrrc37a T G 11: 103,389,479 (GRCm39) H1982P possibly damaging Het
Med13l T A 5: 118,731,528 (GRCm39) L68Q probably damaging Het
Megf10 C A 18: 57,392,870 (GRCm39) D422E probably damaging Het
Mpz C T 1: 170,987,340 (GRCm39) probably benign Het
Muc5ac A T 7: 141,361,215 (GRCm39) T1508S possibly damaging Het
Myo3a C T 2: 22,338,350 (GRCm39) probably benign Het
Ndnf A T 6: 65,680,920 (GRCm39) N400Y possibly damaging Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Or6p1 T C 1: 174,258,657 (GRCm39) I221T probably damaging Het
Or7g35 G T 9: 19,496,291 (GRCm39) V153F probably benign Het
Otol1 A G 3: 69,935,112 (GRCm39) D368G probably damaging Het
Pappa A G 4: 65,232,824 (GRCm39) N1321S probably benign Het
Patl1 T A 19: 11,920,314 (GRCm39) L756Q probably damaging Het
Plcg2 A G 8: 118,339,717 (GRCm39) M1043V probably benign Het
Plekhg2 G A 7: 28,064,144 (GRCm39) probably benign Het
Ppp2r2d G A 7: 138,484,145 (GRCm39) W265* probably null Het
Ppp4r3c1 A G X: 88,975,909 (GRCm39) F96S probably damaging Het
Prss40 G T 1: 34,599,960 (GRCm39) S9* probably null Het
Radx C T X: 138,407,752 (GRCm39) S364L probably damaging Het
Rpl10l A T 12: 66,330,977 (GRCm39) M52K probably damaging Het
Scn1a A T 2: 66,156,380 (GRCm39) S510T possibly damaging Het
Sdad1 T G 5: 92,450,553 (GRCm39) N194T probably damaging Het
Sel1l3 A T 5: 53,345,396 (GRCm39) Y259* probably null Het
Slc22a26 T C 19: 7,765,694 (GRCm39) probably null Het
Snap91 C T 9: 86,659,102 (GRCm39) G477D probably damaging Het
Spata6l A T 19: 28,923,183 (GRCm39) C80S possibly damaging Het
Srr T C 11: 74,799,947 (GRCm39) T202A probably benign Het
Srrm1 C T 4: 135,068,242 (GRCm39) probably benign Het
Trp53bp2 T A 1: 182,276,626 (GRCm39) L869Q possibly damaging Het
Ttbk1 T A 17: 46,757,688 (GRCm39) D982V probably benign Het
Ttn T C 2: 76,624,501 (GRCm39) T15324A probably benign Het
Ush1c T C 7: 45,870,952 (GRCm39) E276G probably damaging Het
Vcan T A 13: 89,840,662 (GRCm39) L1627F probably benign Het
Vps8 A C 16: 21,345,146 (GRCm39) D823A probably damaging Het
Zfp616 T A 11: 73,976,108 (GRCm39) N792K possibly damaging Het
Zfpm2 A T 15: 40,734,023 (GRCm39) D2V possibly damaging Het
Zfyve16 A C 13: 92,650,271 (GRCm39) probably null Het
Zmym2 T A 14: 57,195,765 (GRCm39) probably benign Het
Other mutations in Radil
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- TAGCACCCATGGGATTATCCAG -3'
(R):5'- GGAATCTTGGTGGGTCTCATCC -3'

Sequencing Primer
(F):5'- CATGGGATTATCCAGCCTGG -3'
(R):5'- GGTGGGTCTCATCCTTTCTTC -3'
Posted On 2015-04-30