Incidental Mutation 'R3147:4933436I01Rik'
ID 264307
Institutional Source Beutler Lab
Gene Symbol 4933436I01Rik
Ensembl Gene ENSMUSG00000025288
Gene Name RIKEN cDNA 4933436I01 gene
Synonyms
MMRRC Submission 040599-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R3147 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 66963470-66965056 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66964984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 12 (D12G)
Ref Sequence ENSEMBL: ENSMUSP00000026325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026325]
AlphaFold Q9D3T1
Predicted Effect probably benign
Transcript: ENSMUST00000026325
AA Change: D12G

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000026325
Gene: ENSMUSG00000025288
AA Change: D12G

DomainStartEndE-ValueType
low complexity region 54 67 N/A INTRINSIC
low complexity region 79 90 N/A INTRINSIC
low complexity region 91 105 N/A INTRINSIC
low complexity region 146 157 N/A INTRINSIC
internal_repeat_1 172 240 2.42e-18 PROSPERO
internal_repeat_1 280 348 2.42e-18 PROSPERO
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg2 A T 4: 47,472,259 (GRCm39) V183D probably damaging Het
Amy1 T C 3: 113,363,697 (GRCm39) probably benign Het
Asb15 G T 6: 24,566,258 (GRCm39) A404S probably damaging Het
Atf2 T C 2: 73,681,283 (GRCm39) probably null Het
Atosa A G 9: 74,916,120 (GRCm39) I240V probably benign Het
Baalc A T 15: 38,812,568 (GRCm39) E106V possibly damaging Het
Catsperd G T 17: 56,971,039 (GRCm39) C701F possibly damaging Het
Cc2d2a T A 5: 43,866,497 (GRCm39) I769N probably damaging Het
Ccdc158 T C 5: 92,805,822 (GRCm39) N311S probably damaging Het
Dbx1 C A 7: 49,286,297 (GRCm39) R56L probably damaging Het
Eif4enif1 T A 11: 3,194,003 (GRCm39) probably null Het
Elmod3 T G 6: 72,563,485 (GRCm39) T48P probably benign Het
Erbb2 T C 11: 98,324,865 (GRCm39) S820P probably damaging Het
Gimap8 T C 6: 48,627,440 (GRCm39) V138A probably damaging Het
H1f5 T C 13: 21,964,285 (GRCm39) probably benign Het
Il6ra G T 3: 89,793,235 (GRCm39) P305Q probably benign Het
Kcng3 A G 17: 83,895,749 (GRCm39) V239A possibly damaging Het
Kcnrg T C 14: 61,845,140 (GRCm39) F60S probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lama1 A G 17: 68,044,653 (GRCm39) D184G probably damaging Het
Lhcgr A T 17: 89,065,771 (GRCm39) L206Q probably damaging Het
Lhx3 T C 2: 26,091,277 (GRCm39) D344G probably benign Het
Marf1 A G 16: 13,943,843 (GRCm39) V1380A possibly damaging Het
Mtcl2 T G 2: 156,862,284 (GRCm39) K1548N possibly damaging Het
Mtfr1 T C 3: 19,271,374 (GRCm39) V182A probably benign Het
Or14a259 A G 7: 86,013,092 (GRCm39) L151S probably benign Het
Or5p64 C T 7: 107,854,883 (GRCm39) G154D possibly damaging Het
Rsf1 CG CGACGGAGGAG 7: 97,229,115 (GRCm39) probably benign Het
Snx4 A C 16: 33,108,094 (GRCm39) D296A probably benign Het
Sox7 A T 14: 64,186,083 (GRCm39) Y373F probably damaging Het
Tuba1b T C 15: 98,830,386 (GRCm39) T145A probably benign Het
Usp32 T A 11: 84,919,913 (GRCm39) N718I probably damaging Het
Wapl G A 14: 34,447,106 (GRCm39) V648M probably damaging Het
Zfp85 C T 13: 67,900,612 (GRCm39) V10M probably damaging Het
Zgrf1 A G 3: 127,377,797 (GRCm39) N1014S possibly damaging Het
Other mutations in 4933436I01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01129:4933436I01Rik APN X 66,964,210 (GRCm39) missense possibly damaging 0.90
R1974:4933436I01Rik UTSW X 66,963,655 (GRCm39) nonsense probably null
R2062:4933436I01Rik UTSW X 66,964,308 (GRCm39) missense probably benign 0.01
R2063:4933436I01Rik UTSW X 66,964,308 (GRCm39) missense probably benign 0.01
R2064:4933436I01Rik UTSW X 66,964,308 (GRCm39) missense probably benign 0.01
R2065:4933436I01Rik UTSW X 66,964,308 (GRCm39) missense probably benign 0.01
R2066:4933436I01Rik UTSW X 66,964,308 (GRCm39) missense probably benign 0.01
R2068:4933436I01Rik UTSW X 66,964,308 (GRCm39) missense probably benign 0.01
R3148:4933436I01Rik UTSW X 66,964,984 (GRCm39) missense probably benign 0.06
R9339:4933436I01Rik UTSW X 66,964,689 (GRCm39) nonsense probably null
Z1177:4933436I01Rik UTSW X 66,964,598 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCAAGGCTTTCTAGGGTG -3'
(R):5'- ACCATTCACCAAGGGCTCAG -3'

Sequencing Primer
(F):5'- TGGGTTGAACAGGGAGTTTAAGC -3'
(R):5'- GCATACATTGTGATGTCAGAGCC -3'
Posted On 2015-02-05