Incidental Mutation 'R5505:Ralyl'
ID 430869
Institutional Source Beutler Lab
Gene Symbol Ralyl
Ensembl Gene ENSMUSG00000039717
Gene Name RALY RNA binding protein-like
Synonyms 0710005M24Rik
MMRRC Submission 043066-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R5505 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 13536715-14247347 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 13841980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 39 (I39F)
Ref Sequence ENSEMBL: ENSMUSP00000148430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108373] [ENSMUST00000191806] [ENSMUST00000193117] [ENSMUST00000211860]
AlphaFold Q8BTF8
Predicted Effect probably damaging
Transcript: ENSMUST00000108373
AA Change: I25F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104010
Gene: ENSMUSG00000096025
AA Change: I25F

DomainStartEndE-ValueType
RRM 22 88 6.66e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108373
AA Change: I25F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000191806
AA Change: I25F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000193117
AA Change: I25F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000211860
AA Change: I39F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.9%
Validation Efficiency 98% (47/48)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 T A 5: 24,606,036 (GRCm39) D240E probably damaging Het
Alpk3 G A 7: 80,728,309 (GRCm39) E480K possibly damaging Het
Arhgap20 A G 9: 51,750,248 (GRCm39) E372G probably damaging Het
Atp23 G T 10: 126,723,499 (GRCm39) A201D probably damaging Het
Bpifb1 A G 2: 154,046,699 (GRCm39) D73G probably benign Het
Ccdc7a A G 8: 129,706,655 (GRCm39) S325P possibly damaging Het
Cckar A G 5: 53,860,410 (GRCm39) Y140H probably damaging Het
Cd46 A T 1: 194,767,688 (GRCm39) D124E possibly damaging Het
Cep290 T C 10: 100,335,048 (GRCm39) probably null Het
Cmklr1 C G 5: 113,752,990 (GRCm39) D4H possibly damaging Het
Eif2ak1 T C 5: 143,803,745 (GRCm39) S34P probably benign Het
Enah T A 1: 181,734,018 (GRCm39) probably benign Het
Gad2 C G 2: 22,514,845 (GRCm39) L108V probably benign Het
Gpr22 T C 12: 31,759,724 (GRCm39) I133V probably damaging Het
Hdac4 T C 1: 91,903,187 (GRCm39) T13A probably benign Het
Ighv1-4 A G 12: 114,451,057 (GRCm39) V17A possibly damaging Het
Ints8 T A 4: 11,221,143 (GRCm39) Q744L probably benign Het
Lrit3 C T 3: 129,585,087 (GRCm39) V224I possibly damaging Het
Mgat4a T C 1: 37,535,035 (GRCm39) I108V probably benign Het
Mmp9 T C 2: 164,795,528 (GRCm39) I682T probably benign Het
Myh7b G A 2: 155,474,592 (GRCm39) A1742T probably benign Het
Nlrp12 C T 7: 3,298,015 (GRCm39) G52D probably damaging Het
Or5t9 T C 2: 86,659,845 (GRCm39) F250L possibly damaging Het
Pcnx1 T C 12: 81,996,927 (GRCm39) L941P probably damaging Het
Pla2g4e T C 2: 120,075,256 (GRCm39) R45G probably benign Het
Plcz1 C G 6: 139,961,942 (GRCm39) G203A probably damaging Het
Poldip2 A G 11: 78,406,001 (GRCm39) T76A probably benign Het
Prdm15 T A 16: 97,618,183 (GRCm39) H325L possibly damaging Het
Rnf220 A C 4: 117,153,288 (GRCm39) probably benign Het
Rnpc3 T C 3: 113,409,102 (GRCm39) K318E probably damaging Het
Rsbn1 T A 3: 103,836,259 (GRCm39) N432K probably damaging Het
Sh3yl1 T A 12: 30,992,072 (GRCm39) Y176N probably damaging Het
Slc25a30 G A 14: 76,000,789 (GRCm39) L272F probably damaging Het
Spag1 T C 15: 36,234,772 (GRCm39) V844A probably damaging Het
Srsf5 T C 12: 80,995,857 (GRCm39) probably benign Het
Tle2 T A 10: 81,417,574 (GRCm39) D223E probably benign Het
Tmem192 A G 8: 65,416,898 (GRCm39) E39G possibly damaging Het
Trpc6 T A 9: 8,626,736 (GRCm39) L362H probably damaging Het
Tuba4a A G 1: 75,193,060 (GRCm39) Y185H probably damaging Het
Uba6 A G 5: 86,268,405 (GRCm39) V941A probably benign Het
Vmn2r35 A T 7: 7,789,479 (GRCm39) Y753N probably damaging Het
Zfp941 C T 7: 140,391,830 (GRCm39) V510I probably benign Het
Other mutations in Ralyl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02508:Ralyl APN 3 14,172,332 (GRCm39) splice site probably benign
IGL02626:Ralyl APN 3 13,842,094 (GRCm39) missense probably benign 0.00
IGL02950:Ralyl APN 3 14,104,781 (GRCm39) missense probably damaging 1.00
PIT4498001:Ralyl UTSW 3 14,172,299 (GRCm39) missense probably damaging 0.99
R0853:Ralyl UTSW 3 14,011,566 (GRCm39) missense probably damaging 1.00
R1061:Ralyl UTSW 3 14,180,761 (GRCm39) missense probably damaging 1.00
R1068:Ralyl UTSW 3 13,841,949 (GRCm39) missense probably damaging 1.00
R1655:Ralyl UTSW 3 14,172,296 (GRCm39) missense probably damaging 1.00
R1796:Ralyl UTSW 3 14,208,493 (GRCm39) missense possibly damaging 0.77
R1838:Ralyl UTSW 3 14,208,472 (GRCm39) missense probably damaging 1.00
R4706:Ralyl UTSW 3 14,104,850 (GRCm39) critical splice donor site probably null
R5510:Ralyl UTSW 3 13,842,005 (GRCm39) missense probably damaging 1.00
R6844:Ralyl UTSW 3 13,841,938 (GRCm39) missense probably damaging 1.00
R6919:Ralyl UTSW 3 13,842,091 (GRCm39) missense probably damaging 1.00
R7876:Ralyl UTSW 3 14,104,850 (GRCm39) critical splice donor site probably null
R8297:Ralyl UTSW 3 14,104,836 (GRCm39) missense probably benign 0.33
R9292:Ralyl UTSW 3 14,172,312 (GRCm39) missense probably benign 0.06
R9686:Ralyl UTSW 3 13,841,887 (GRCm39) splice site probably benign
Predicted Primers PCR Primer
(F):5'- TCCTAGTCTTTACACAGAAGAAAGAGG -3'
(R):5'- AGCACAGCTTACCAAGAGGC -3'

Sequencing Primer
(F):5'- TGTTTCCAGATGAAAAACTACAACC -3'
(R):5'- AGCTTACCAAGAGGCTGGCC -3'
Posted On 2016-10-05