Incidental Mutation 'IGL02950:Ralyl'
ID364923
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ralyl
Ensembl Gene ENSMUSG00000039717
Gene NameRALY RNA binding protein-like
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.165) question?
Stock #IGL02950
Quality Score
Status
Chromosome3
Chromosomal Location13471655-14182287 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 14039721 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 15 (N15K)
Ref Sequence ENSEMBL: ENSMUSP00000104009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108372] [ENSMUST00000171075] [ENSMUST00000192209] [ENSMUST00000193117] [ENSMUST00000211860]
Predicted Effect probably damaging
Transcript: ENSMUST00000108372
AA Change: N15K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104009
Gene: ENSMUSG00000039717
AA Change: N15K

DomainStartEndE-ValueType
low complexity region 53 69 N/A INTRINSIC
coiled coil region 119 182 N/A INTRINSIC
low complexity region 201 214 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171075
AA Change: N15K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125848
Gene: ENSMUSG00000039717
AA Change: N15K

DomainStartEndE-ValueType
low complexity region 53 69 N/A INTRINSIC
coiled coil region 119 156 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000192209
AA Change: N15K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142094
Gene: ENSMUSG00000039717
AA Change: N15K

DomainStartEndE-ValueType
low complexity region 53 69 N/A INTRINSIC
coiled coil region 119 156 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193117
AA Change: N88K

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211860
AA Change: N102K

PolyPhen 2 Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,825,967 S1129C possibly damaging Het
Afm A T 5: 90,531,607 D320V probably damaging Het
Ap5m1 C T 14: 49,073,935 T154I probably benign Het
Bcl11b G A 12: 107,989,806 T28I probably benign Het
Bhlhe40 G T 6: 108,664,542 C149F probably damaging Het
Bmper A T 9: 23,399,494 D408V probably damaging Het
C1rl G A 6: 124,508,861 C397Y probably damaging Het
C2cd4c A G 10: 79,612,831 S161P probably damaging Het
C87977 A G 4: 144,212,961 V2A probably benign Het
Cep290 T C 10: 100,540,329 probably benign Het
Cp T C 3: 19,988,001 Y978H probably damaging Het
Csf2ra T C 19: 61,227,169 D37G probably benign Het
Ddx24 A G 12: 103,417,542 V596A probably damaging Het
Dnmt3l A G 10: 78,050,951 S82G probably benign Het
Dock1 A G 7: 134,730,024 Y46C probably damaging Het
Eno2 A T 6: 124,763,118 D318E probably damaging Het
Gm43738 A C 3: 89,089,048 L120R probably damaging Het
Hgsnat C A 8: 25,971,701 C29F probably damaging Het
Hltf T A 3: 20,076,572 V318D probably benign Het
Kcnh8 A G 17: 52,956,767 H764R probably benign Het
Kcnq3 A G 15: 66,020,293 F411S probably benign Het
Lpcat4 C A 2: 112,244,042 N287K possibly damaging Het
Ltbp4 A C 7: 27,306,718 F1512V probably damaging Het
Mctp1 A T 13: 77,024,810 L868F probably damaging Het
Mdn1 T C 4: 32,713,360 probably benign Het
Olfr1000 A T 2: 85,608,157 L251Q possibly damaging Het
Otub2 A G 12: 103,403,373 D237G probably damaging Het
Pax3 A G 1: 78,103,360 V463A probably benign Het
Podn T C 4: 108,017,851 K573R possibly damaging Het
Ppp5c A C 7: 17,006,910 S378A probably benign Het
Prl2a1 T A 13: 27,804,931 L13Q probably damaging Het
Ptgir A G 7: 16,907,601 T70A probably damaging Het
Rbck1 C T 2: 152,331,077 R17Q possibly damaging Het
Ryr1 A G 7: 29,097,459 Y973H probably damaging Het
Sh2d6 A G 6: 72,515,302 V260A probably damaging Het
Spen G A 4: 141,469,508 P3559S probably damaging Het
Tbcd T A 11: 121,603,709 V1032D probably damaging Het
Tmem2 A T 19: 21,842,200 K1118N probably benign Het
Trav12-1 T A 14: 53,538,567 V59E probably damaging Het
Unc93a T A 17: 13,125,568 Q29L probably damaging Het
Zzef1 A G 11: 72,917,699 probably benign Het
Other mutations in Ralyl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02508:Ralyl APN 3 14107272 splice site probably benign
IGL02626:Ralyl APN 3 13777034 missense probably benign 0.00
PIT4498001:Ralyl UTSW 3 14107239 missense probably damaging 0.99
R0853:Ralyl UTSW 3 13946506 missense probably damaging 1.00
R1061:Ralyl UTSW 3 14115701 missense probably damaging 1.00
R1068:Ralyl UTSW 3 13776889 missense probably damaging 1.00
R1655:Ralyl UTSW 3 14107236 missense probably damaging 1.00
R1796:Ralyl UTSW 3 14143433 missense possibly damaging 0.77
R1838:Ralyl UTSW 3 14143412 missense probably damaging 1.00
R4706:Ralyl UTSW 3 14039790 critical splice donor site probably null
R5505:Ralyl UTSW 3 13776920 missense probably damaging 1.00
R5510:Ralyl UTSW 3 13776945 missense probably damaging 1.00
R6844:Ralyl UTSW 3 13776878 missense probably damaging 1.00
R6919:Ralyl UTSW 3 13777031 missense probably damaging 1.00
R7876:Ralyl UTSW 3 14039790 critical splice donor site probably null
R8297:Ralyl UTSW 3 14039776 missense probably benign 0.33
Posted On2015-12-18