Incidental Mutation 'R5899:E130208F15Rik'
ID 506161
Institutional Source Beutler Lab
Gene Symbol E130208F15Rik
Ensembl Gene ENSMUSG00000074210
Gene Name RIKEN cDNA E130208F15 gene
Synonyms
MMRRC Submission 044098-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R5899 (G1)
Quality Score 24
Status Validated
Chromosome 7
Chromosomal Location 30021165-30022897 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30021726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 10 (Q10R)
Ref Sequence ENSEMBL: ENSMUSP00000096185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054594] [ENSMUST00000098585] [ENSMUST00000098586] [ENSMUST00000176304] [ENSMUST00000176789]
AlphaFold Q3UPV3
Predicted Effect probably benign
Transcript: ENSMUST00000054594
SMART Domains Protein: ENSMUSP00000055874
Gene: ENSMUSG00000019737

DomainStartEndE-ValueType
Blast:SPEC 96 198 2e-34 BLAST
low complexity region 222 234 N/A INTRINSIC
low complexity region 290 315 N/A INTRINSIC
KASH 335 388 2.85e-15 SMART
Predicted Effect unknown
Transcript: ENSMUST00000098585
AA Change: C129R
SMART Domains Protein: ENSMUSP00000096184
Gene: ENSMUSG00000074210
AA Change: C129R

DomainStartEndE-ValueType
low complexity region 74 95 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000098586
AA Change: Q10R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096185
Gene: ENSMUSG00000074211
AA Change: Q10R

DomainStartEndE-ValueType
Pfam:Complex1_LYR 9 63 2.1e-16 PFAM
Pfam:Complex1_LYR_1 9 65 5.9e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175902
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176232
Predicted Effect probably benign
Transcript: ENSMUST00000176304
SMART Domains Protein: ENSMUSP00000135637
Gene: ENSMUSG00000019737

DomainStartEndE-ValueType
Blast:SPEC 96 196 3e-34 BLAST
low complexity region 197 232 N/A INTRINSIC
KASH 252 305 2.85e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176571
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177395
Predicted Effect probably benign
Transcript: ENSMUST00000176789
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177257
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176536
Meta Mutation Damage Score 0.3512 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.5%
Validation Efficiency 93% (56/60)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 T C 10: 20,876,465 (GRCm39) I792T probably benign Het
Anks1b T A 10: 90,759,379 (GRCm39) probably null Het
Ano3 T G 2: 110,693,232 (GRCm39) D122A probably benign Het
Atp12a T C 14: 56,610,801 (GRCm39) V315A probably benign Het
B230104I21Rik G T 4: 154,433,986 (GRCm39) G57* probably null Het
Bpifb2 A G 2: 153,733,050 (GRCm39) K378E probably damaging Het
Cdk5rap2 T C 4: 70,161,830 (GRCm39) probably benign Het
Ceacam23 A G 7: 17,651,369 (GRCm39) D840G possibly damaging Het
Cflar A G 1: 58,791,927 (GRCm39) D410G probably benign Het
Clcn6 A G 4: 148,102,049 (GRCm39) V345A probably benign Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Ddx50 T A 10: 62,476,596 (GRCm39) K226* probably null Het
Dnah5 T C 15: 28,448,513 (GRCm39) V4192A possibly damaging Het
Dnah8 G A 17: 30,875,659 (GRCm39) D494N probably benign Het
Dock7 A T 4: 98,879,660 (GRCm39) C965S probably benign Het
Dst C T 1: 34,334,370 (GRCm39) A5083V probably damaging Het
Fbxw15 T C 9: 109,384,741 (GRCm39) probably null Het
Fxr2 A G 11: 69,543,511 (GRCm39) N671D probably damaging Het
Gbp7 A G 3: 142,252,303 (GRCm39) T629A probably benign Het
Grm1 T C 10: 10,565,092 (GRCm39) Y1072C probably benign Het
Hmcn2 A T 2: 31,244,685 (GRCm39) E714V possibly damaging Het
Hsd17b13 T A 5: 104,113,730 (GRCm39) E205D probably benign Het
Igf2bp3 A G 6: 49,094,084 (GRCm39) probably benign Het
Il2ra A G 2: 11,689,248 (GRCm39) H259R probably benign Het
Klk15 G T 7: 43,588,247 (GRCm39) R185L probably benign Het
Map3k11 T G 19: 5,745,937 (GRCm39) probably null Het
Morn3 A G 5: 123,179,166 (GRCm39) W95R probably damaging Het
Nipbl A G 15: 8,364,328 (GRCm39) probably null Het
Nrap A T 19: 56,329,006 (GRCm39) V1145D possibly damaging Het
Or1e35 A G 11: 73,797,755 (GRCm39) S188P probably damaging Het
Or2l13b C T 16: 19,349,551 (GRCm39) G40R probably damaging Het
Or9k2 T A 10: 129,998,542 (GRCm39) I218F probably benign Het
Pdcd11 A G 19: 47,093,198 (GRCm39) N492S possibly damaging Het
Ptgfr C T 3: 151,540,738 (GRCm39) V257I probably damaging Het
Racgap1 T C 15: 99,521,509 (GRCm39) E549G possibly damaging Het
Rfx3 T C 19: 27,808,165 (GRCm39) T193A probably damaging Het
Rplp0 T A 5: 115,699,489 (GRCm39) I149N probably benign Het
Samd7 T G 3: 30,810,883 (GRCm39) I300S probably benign Het
Scpep1 A G 11: 88,825,402 (GRCm39) probably null Het
Senp6 T C 9: 80,049,352 (GRCm39) probably benign Het
Serpinb2 G T 1: 107,447,446 (GRCm39) G78V probably damaging Het
Sesn1 T C 10: 41,687,189 (GRCm39) S58P probably benign Het
Skic3 A G 13: 76,259,938 (GRCm39) probably null Het
Spg11 T C 2: 121,928,680 (GRCm39) D591G possibly damaging Het
Spire2 A C 8: 124,080,833 (GRCm39) S26R probably damaging Het
Strip2 T A 6: 29,956,957 (GRCm39) probably benign Het
Ttn G A 2: 76,697,519 (GRCm39) probably benign Het
Vmn2r77 A G 7: 86,460,924 (GRCm39) Y750C probably damaging Het
Wnt11 T A 7: 98,488,383 (GRCm39) Y23* probably null Het
Zbp1 T A 2: 173,052,340 (GRCm39) D272V probably benign Het
Other mutations in E130208F15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R8210:E130208F15Rik UTSW 7 30,021,619 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACAAGAATTCTTTGGGGCACC -3'
(R):5'- TACTGGCCAATCAGATGCGG -3'

Sequencing Primer
(F):5'- AAGGTACCCATGGCCGTG -3'
(R):5'- TTCTCAGCACTGTGTGTC -3'
Posted On 2018-03-01