Incidental Mutation 'R8757:6030468B19Rik'
ID 671712
Institutional Source Beutler Lab
Gene Symbol 6030468B19Rik
Ensembl Gene ENSMUSG00000025573
Gene Name RIKEN cDNA 6030468B19 gene
Synonyms
MMRRC Submission 068621-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R8757 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 117688486-117698127 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117697112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 237 (V237A)
Ref Sequence ENSEMBL: ENSMUSP00000101938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026649] [ENSMUST00000106331] [ENSMUST00000120928] [ENSMUST00000132298] [ENSMUST00000177131] [ENSMUST00000177241]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000026649
SMART Domains Protein: ENSMUSP00000026649
Gene: ENSMUSG00000048277

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
Pfam:MARVEL 20 165 1.1e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106331
AA Change: V237A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000101938
Gene: ENSMUSG00000025573
AA Change: V237A

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Ig_3 31 100 6.1e-5 PFAM
Pfam:Ig_3 120 195 1.2e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120928
SMART Domains Protein: ENSMUSP00000113941
Gene: ENSMUSG00000048277

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
Pfam:MARVEL 21 135 1.4e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132298
SMART Domains Protein: ENSMUSP00000135368
Gene: ENSMUSG00000093485

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
low complexity region 34 43 N/A INTRINSIC
low complexity region 90 102 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000175737
SMART Domains Protein: ENSMUSP00000134879
Gene: ENSMUSG00000048277

DomainStartEndE-ValueType
low complexity region 1 11 N/A INTRINSIC
Pfam:MARVEL 18 121 1.4e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177131
SMART Domains Protein: ENSMUSP00000134789
Gene: ENSMUSG00000048277

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
Pfam:MARVEL 20 162 3.6e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177241
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (59/59)
MGI Phenotype PHENOTYPE: No notable phenotype was detected in a high-throughput screen of homozygous null mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 G A 7: 120,006,631 (GRCm39) V1632M probably damaging Het
Adam20 A T 8: 41,248,943 (GRCm39) H351L probably benign Het
Ak9 T C 10: 41,299,036 (GRCm39) V1579A unknown Het
Apol7e T C 15: 77,602,065 (GRCm39) V221A probably benign Het
Arid5b T C 10: 67,933,640 (GRCm39) H754R probably damaging Het
Atp6v0d2 T A 4: 19,910,649 (GRCm39) R80S probably benign Het
Cers3 G A 7: 66,435,850 (GRCm39) V270M probably damaging Het
Ces3a A G 8: 105,784,129 (GRCm39) H443R probably damaging Het
Cnot7 A G 8: 40,947,080 (GRCm39) V269A probably benign Het
Cntn1 T G 15: 92,153,801 (GRCm39) F485V possibly damaging Het
Copa A G 1: 171,947,081 (GRCm39) I1068M probably benign Het
Dchs2 G A 3: 83,261,567 (GRCm39) V2612M possibly damaging Het
Dgkz T C 2: 91,775,922 (GRCm39) T114A probably benign Het
Dock2 A T 11: 34,586,067 (GRCm39) D538E probably benign Het
Epn3 C A 11: 94,386,848 (GRCm39) G174V possibly damaging Het
Evx2 C T 2: 74,486,226 (GRCm39) A388T probably benign Het
Fancd2 T C 6: 113,537,054 (GRCm39) M553T possibly damaging Het
Ficd G T 5: 113,876,575 (GRCm39) R250L probably damaging Het
Fmo2 A G 1: 162,708,005 (GRCm39) S377P probably benign Het
Gm19410 A T 8: 36,276,119 (GRCm39) Q1592L possibly damaging Het
Gm4792 T A 10: 94,131,049 (GRCm39) T87S unknown Het
Gm8947 C A 1: 151,068,809 (GRCm39) T214K probably benign Het
H6pd C T 4: 150,066,758 (GRCm39) V551I probably benign Het
Hace1 T A 10: 45,546,539 (GRCm39) I391N possibly damaging Het
Heyl C T 4: 123,127,666 (GRCm39) R3W probably damaging Het
Htr4 T A 18: 62,545,335 (GRCm39) V40E probably damaging Het
Ighg1 A T 12: 113,292,657 (GRCm39) L304* probably null Het
Igkv1-135 T A 6: 67,587,470 (GRCm39) W114R possibly damaging Het
Itga8 T C 2: 12,266,940 (GRCm39) D165G probably damaging Het
Kmt2a A T 9: 44,754,210 (GRCm39) V1210E unknown Het
Lipt2 GGCGCCCGCGCGCG GGCG 7: 99,808,888 (GRCm39) probably null Het
Lrrc37a A G 11: 103,348,766 (GRCm39) V2643A unknown Het
Map4k5 A G 12: 69,897,598 (GRCm39) probably benign Het
Mecom A T 3: 30,292,268 (GRCm39) D14E Het
Myo3a G T 2: 22,448,319 (GRCm39) K969N possibly damaging Het
Nat3 T C 8: 68,000,202 (GRCm39) I27T probably damaging Het
Nr1d1 G C 11: 98,660,073 (GRCm39) R484G probably damaging Het
Nr2c1 T C 10: 94,031,119 (GRCm39) L560P probably damaging Het
Or52e8 T C 7: 104,624,325 (GRCm39) N293S probably damaging Het
Pik3cg T C 12: 32,255,006 (GRCm39) D327G probably damaging Het
Ppihl A T 5: 44,070,999 (GRCm39) N119I probably benign Het
Ppp1r13l G T 7: 19,103,981 (GRCm39) G154V probably damaging Het
Psmc5 A G 11: 106,153,687 (GRCm39) D382G probably benign Het
Ptprz1 C A 6: 22,972,716 (GRCm39) Q209K possibly damaging Het
Rev1 A C 1: 38,098,353 (GRCm39) L730R probably damaging Het
Rin3 G A 12: 102,339,861 (GRCm39) V684I probably damaging Het
Ror1 T A 4: 100,298,080 (GRCm39) F484L probably benign Het
Secisbp2 G A 13: 51,833,869 (GRCm39) V670I possibly damaging Het
Sema6d G A 2: 124,497,134 (GRCm39) C136Y probably damaging Het
Sf3a2 T A 10: 80,640,138 (GRCm39) H316Q unknown Het
Slc18b1 T C 10: 23,692,198 (GRCm39) silent Het
Sp100 T C 1: 85,590,285 (GRCm39) V93A possibly damaging Het
Spta1 C T 1: 174,040,940 (GRCm39) L1247F probably damaging Het
Syne1 T A 10: 5,144,618 (GRCm39) N21I probably damaging Het
Tbck G T 3: 132,392,587 (GRCm39) M9I probably benign Het
Tln2 T C 9: 67,274,500 (GRCm39) Y376C probably damaging Het
Tmem199 T A 11: 78,398,633 (GRCm39) probably benign Het
Ttf2 A G 3: 100,857,648 (GRCm39) L759P probably damaging Het
Ubqlnl T A 7: 103,799,206 (GRCm39) H97L probably damaging Het
Zfp800 T C 6: 28,244,270 (GRCm39) I232V probably benign Het
Zfp831 A G 2: 174,487,874 (GRCm39) T850A probably benign Het
Zpld2 T C 4: 133,930,282 (GRCm39) T8A unknown Het
Other mutations in 6030468B19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02168:6030468B19Rik APN 11 117,689,244 (GRCm39) splice site probably benign
IGL03388:6030468B19Rik APN 11 117,693,596 (GRCm39) splice site probably benign
PIT4434001:6030468B19Rik UTSW 11 117,696,869 (GRCm39) missense probably benign 0.01
R0477:6030468B19Rik UTSW 11 117,693,787 (GRCm39) missense probably benign 0.00
R3824:6030468B19Rik UTSW 11 117,693,739 (GRCm39) missense probably damaging 0.99
R3825:6030468B19Rik UTSW 11 117,693,739 (GRCm39) missense probably damaging 0.99
R4114:6030468B19Rik UTSW 11 117,693,793 (GRCm39) missense probably damaging 1.00
R4283:6030468B19Rik UTSW 11 117,697,087 (GRCm39) missense probably benign 0.01
R4779:6030468B19Rik UTSW 11 117,696,834 (GRCm39) missense probably benign 0.14
R4916:6030468B19Rik UTSW 11 117,697,092 (GRCm39) nonsense probably null
R5068:6030468B19Rik UTSW 11 117,693,701 (GRCm39) missense possibly damaging 0.85
R5725:6030468B19Rik UTSW 11 117,696,883 (GRCm39) missense probably damaging 0.98
R6139:6030468B19Rik UTSW 11 117,697,150 (GRCm39) missense probably damaging 0.98
R6992:6030468B19Rik UTSW 11 117,688,594 (GRCm39) start codon destroyed probably null
R7157:6030468B19Rik UTSW 11 117,693,780 (GRCm39) missense probably damaging 0.98
R8759:6030468B19Rik UTSW 11 117,697,112 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AAAACGATGTCGGTGTGGAC -3'
(R):5'- TAAGCAGCTTCAGGTTGGGC -3'

Sequencing Primer
(F):5'- AGGTGAGCTGGTCCTTCC -3'
(R):5'- TGGGCCTTGTTATACAGACCCAG -3'
Posted On 2021-04-30