Incidental Mutation 'R0167:D630023F18Rik'
ID 24196
Institutional Source Beutler Lab
Gene Symbol D630023F18Rik
Ensembl Gene ENSMUSG00000044816
Gene Name RIKEN cDNA D630023F18 gene
Synonyms
MMRRC Submission 038443-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R0167 (G1)
Quality Score 186
Status Validated (trace)
Chromosome 1
Chromosomal Location 65144444-65162373 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65156340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 51 (V51A)
Ref Sequence ENSEMBL: ENSMUSP00000115574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050047] [ENSMUST00000144760] [ENSMUST00000148020] [ENSMUST00000153330]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000050047
AA Change: Y85H

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000056196
Gene: ENSMUSG00000044816
AA Change: Y85H

DomainStartEndE-ValueType
low complexity region 165 179 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000144760
AA Change: Y17H

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140504
Gene: ENSMUSG00000100846
AA Change: Y17H

DomainStartEndE-ValueType
low complexity region 97 111 N/A INTRINSIC
low complexity region 124 150 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000148020
AA Change: Y79H

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120090
Gene: ENSMUSG00000044816
AA Change: Y79H

DomainStartEndE-ValueType
low complexity region 159 173 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000153330
AA Change: V51A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 95% (58/61)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T C 9: 107,806,969 (GRCm39) F431L probably damaging Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Bltp3a C T 17: 28,099,176 (GRCm39) T246M possibly damaging Het
Bsn T C 9: 108,003,185 (GRCm39) T407A probably benign Het
Ccdc96 T C 5: 36,642,497 (GRCm39) F168L probably benign Het
Cckar A T 5: 53,863,795 (GRCm39) S55R probably damaging Het
Cdh5 A C 8: 104,863,367 (GRCm39) I426L possibly damaging Het
Clcn1 T C 6: 42,263,770 (GRCm39) Y24H probably damaging Het
Clpx G A 9: 65,224,019 (GRCm39) R271K possibly damaging Het
Col6a3 C T 1: 90,725,895 (GRCm39) G1978D probably damaging Het
Cpne2 T C 8: 95,295,207 (GRCm39) probably benign Het
Dcaf4 G A 12: 83,582,762 (GRCm39) probably benign Het
Dlk2 C A 17: 46,613,530 (GRCm39) R262S possibly damaging Het
Dubr G T 16: 50,553,007 (GRCm39) noncoding transcript Het
Elane T A 10: 79,722,933 (GRCm39) probably null Het
Eya2 T G 2: 165,558,032 (GRCm39) S209R possibly damaging Het
Fam171a1 C T 2: 3,187,469 (GRCm39) S112L probably damaging Het
Fsip2 T A 2: 82,811,151 (GRCm39) M2490K possibly damaging Het
Galnt14 T C 17: 73,829,715 (GRCm39) T277A probably damaging Het
Golga1 T C 2: 38,937,660 (GRCm39) N128S probably benign Het
H1f6 T C 13: 23,879,886 (GRCm39) V13A probably benign Het
Hdac2 T C 10: 36,876,368 (GRCm39) V461A probably benign Het
Hey2 A G 10: 30,716,661 (GRCm39) V34A probably benign Het
Ift22 T C 5: 136,940,745 (GRCm39) C137R probably benign Het
Lrp2 T C 2: 69,256,002 (GRCm39) D4657G possibly damaging Het
Lrrn3 T A 12: 41,504,014 (GRCm39) Q101L probably damaging Het
Med25 A G 7: 44,532,521 (GRCm39) probably null Het
Mup5 T A 4: 61,752,019 (GRCm39) probably null Het
Or51aa5 A T 7: 103,166,708 (GRCm39) Y294* probably null Het
Or5ac23 A T 16: 59,149,337 (GRCm39) C178* probably null Het
Or9q2 T C 19: 13,772,931 (GRCm39) T15A probably benign Het
Otog G A 7: 45,953,655 (GRCm39) V2638M probably damaging Het
Parg T C 14: 31,939,693 (GRCm39) probably null Het
Prep A G 10: 45,034,326 (GRCm39) probably null Het
Prss1l T A 6: 41,373,195 (GRCm39) probably benign Het
Psip1 T C 4: 83,385,055 (GRCm39) probably null Het
Rbbp8 T A 18: 11,793,979 (GRCm39) Y30* probably null Het
Rhbdd1 T C 1: 82,320,505 (GRCm39) V163A probably benign Het
Setd2 T A 9: 110,402,850 (GRCm39) N1830K probably damaging Het
Shc4 T G 2: 125,564,933 (GRCm39) N122T probably benign Het
Shroom3 T C 5: 93,096,254 (GRCm39) probably benign Het
Snx14 A T 9: 88,289,469 (GRCm39) L261Q probably damaging Het
St8sia1 A G 6: 142,859,907 (GRCm39) probably benign Het
Thbs2 A T 17: 14,887,787 (GRCm39) probably benign Het
Tpp2 T C 1: 44,009,648 (GRCm39) V494A probably benign Het
Trdmt1 A T 2: 13,520,829 (GRCm39) F358I probably damaging Het
Ttn T A 2: 76,719,867 (GRCm39) probably benign Het
Uggt1 A G 1: 36,209,278 (GRCm39) probably null Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vstm2a T A 11: 16,208,044 (GRCm39) F13I probably damaging Het
Zfp804a T G 2: 82,086,860 (GRCm39) F230V probably damaging Het
Other mutations in D630023F18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6805:D630023F18Rik UTSW 1 65,156,365 (GRCm39) missense probably benign 0.01
R7814:D630023F18Rik UTSW 1 65,155,850 (GRCm39) missense possibly damaging 0.54
R8293:D630023F18Rik UTSW 1 65,147,939 (GRCm39) missense probably benign 0.17
R8948:D630023F18Rik UTSW 1 65,147,899 (GRCm39) missense probably damaging 0.99
R9145:D630023F18Rik UTSW 1 65,160,371 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- TGTGAAGCAGCACAGCAACTAGATG -3'
(R):5'- AGTGTCACACCTTAGCTTGTGTCAAAA -3'

Sequencing Primer
(F):5'- GGGTAAACACGTTTTCTAGACAC -3'
(R):5'- gggtgaggtggcacaaag -3'
Posted On 2013-04-16