Incidental Mutation 'IGL02086:Radil'
ID 285483
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) question?
Stock # IGL02086
Quality Score
Status
Chromosome 5
Chromosomal Location 142470594-142536853 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142529576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 40 (D40G)
Ref Sequence ENSEMBL: ENSMUSP00000106412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063635] [ENSMUST00000085758] [ENSMUST00000110785] [ENSMUST00000129212]
AlphaFold Q69Z89
Predicted Effect probably benign
Transcript: ENSMUST00000063635
AA Change: D40G

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000064539
Gene: ENSMUSG00000029576
AA Change: D40G

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: D69G

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000082910
Gene: ENSMUSG00000029576
AA Change: D69G

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: ENSMUST00000110785
AA Change: D40G

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000106412
Gene: ENSMUSG00000029576
AA Change: D40G

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 probably benign
Transcript: ENSMUST00000129212
AA Change: D40G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000115800
Gene: ENSMUSG00000029576
AA Change: D40G

DomainStartEndE-ValueType
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930426L09Rik T C 2: 19,003,623 (GRCm39) probably benign Het
Abi3bp A G 16: 56,462,930 (GRCm39) probably benign Het
Asb4 T C 6: 5,398,386 (GRCm39) I117T probably benign Het
Birc6 T G 17: 74,946,822 (GRCm39) L2847R probably damaging Het
C2cd2 A G 16: 97,691,208 (GRCm39) probably benign Het
Ccdc77 C A 6: 120,316,119 (GRCm39) C186F possibly damaging Het
Cd300ld2 T A 11: 114,903,384 (GRCm39) probably benign Het
Cd55b A T 1: 130,345,919 (GRCm39) D166E probably benign Het
Cfap100 A G 6: 90,390,954 (GRCm39) F8L probably damaging Het
Col2a1 C T 15: 97,884,618 (GRCm39) probably null Het
Dbf4 A G 5: 8,453,189 (GRCm39) I270T probably benign Het
Dkk3 T C 7: 111,748,236 (GRCm39) S123G probably benign Het
Ep400 A G 5: 110,824,809 (GRCm39) probably benign Het
Fam184a A G 10: 53,575,351 (GRCm39) I30T probably damaging Het
Fam20a T C 11: 109,564,239 (GRCm39) I505V probably benign Het
Fbh1 T C 2: 11,768,938 (GRCm39) D285G probably benign Het
Fcho1 T C 8: 72,169,444 (GRCm39) E154G probably damaging Het
Klhdc1 A G 12: 69,329,958 (GRCm39) I362M probably benign Het
Knl1 A T 2: 118,931,255 (GRCm39) E1990D probably benign Het
Lancl2 A G 6: 57,711,024 (GRCm39) Y394C probably damaging Het
Lgi2 G A 5: 52,723,299 (GRCm39) S50F probably damaging Het
Map2k7 A G 8: 4,288,950 (GRCm39) E14G probably damaging Het
Mga A G 2: 119,754,517 (GRCm39) I1009V probably damaging Het
Nat9 C A 11: 115,074,234 (GRCm39) probably null Het
Nek2 G A 1: 191,563,401 (GRCm39) A422T probably benign Het
Nfkbiz A T 16: 55,636,034 (GRCm39) L509Q probably damaging Het
Or56b2 A T 7: 104,337,634 (GRCm39) R137S probably benign Het
Pgap1 T A 1: 54,587,147 (GRCm39) Q143L probably damaging Het
Pkd1l3 C T 8: 110,392,217 (GRCm39) T1937I probably damaging Het
Pou1f1 A G 16: 65,326,784 (GRCm39) E128G probably damaging Het
Ppfia3 T C 7: 44,989,996 (GRCm39) probably benign Het
Prkd1 T C 12: 50,434,046 (GRCm39) I566V probably benign Het
Psd2 A G 18: 36,138,959 (GRCm39) R528G probably damaging Het
Ptprg G T 14: 12,110,080 (GRCm38) E263* probably null Het
Ryr2 T A 13: 11,750,442 (GRCm39) Y1943F probably damaging Het
Slc30a4 C T 2: 122,543,947 (GRCm39) probably benign Het
Slc31a1 A T 4: 62,306,241 (GRCm39) T120S possibly damaging Het
Snrpe A G 1: 133,537,487 (GRCm39) probably benign Het
Stx3 G T 19: 11,796,046 (GRCm39) probably benign Het
Thoc2l A G 5: 104,666,867 (GRCm39) E463G possibly damaging Het
Ufsp1 T A 5: 137,293,178 (GRCm39) C43S probably damaging Het
Vac14 T A 8: 111,379,950 (GRCm39) M416K possibly damaging Het
Vmn1r81 A C 7: 11,993,792 (GRCm39) V272G possibly damaging Het
Vmn2r107 T A 17: 20,578,062 (GRCm39) I457K probably benign Het
Vmn2r72 A T 7: 85,387,374 (GRCm39) V730E probably benign Het
Vmn2r9 T C 5: 108,995,433 (GRCm39) Y405C probably damaging Het
Zcchc17 T C 4: 130,210,440 (GRCm39) *242W probably null Het
Zfp503 T C 14: 22,037,354 (GRCm39) K83R possibly damaging 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
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
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