Incidental Mutation 'R8207:1700057G04Rik'
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ID635964
Institutional Source Beutler Lab
Gene Symbol 1700057G04Rik
Ensembl Gene ENSMUSG00000074139
Gene NameRIKEN cDNA 1700057G04 gene
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #R8207 (G1)
Quality Score225.009
Status Validated
Chromosome9
Chromosomal Location92309377-92357876 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 92351008 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 61 (F61L)
Ref Sequence ENSEMBL: ENSMUSP00000096077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098477] [ENSMUST00000185580]
Predicted Effect probably benign
Transcript: ENSMUST00000098477
AA Change: F61L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000096077
Gene: ENSMUSG00000074139
AA Change: F61L

DomainStartEndE-ValueType
Pfam:Scramblase 1 222 6.3e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135182
Predicted Effect probably benign
Transcript: ENSMUST00000185580
SMART Domains Protein: ENSMUSP00000139734
Gene: ENSMUSG00000074139

DomainStartEndE-ValueType
Pfam:Scramblase 1 146 8.4e-57 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (49/49)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aen G A 7: 78,902,743 M150I possibly damaging Het
Arhgef11 A G 3: 87,698,775 N279S possibly damaging Het
Arid3a T C 10: 79,950,926 probably null Het
Casp8ap2 A G 4: 32,646,446 T1840A possibly damaging Het
Ccdc14 T A 16: 34,705,043 N235K possibly damaging Het
Cdh7 T C 1: 109,994,346 V56A probably damaging Het
Clec16a A G 16: 10,627,448 N518S probably benign Het
Clec16a G A 16: 10,694,710 R837H probably damaging Het
Cog7 T C 7: 121,977,292 D137G possibly damaging Het
Cpt1b T C 15: 89,418,815 T649A probably damaging Het
Efcab8 C G 2: 153,789,225 L192V probably damaging Het
Farp2 A G 1: 93,621,243 R1024G probably benign Het
Fmo1 T A 1: 162,850,107 T147S probably benign Het
Fryl A C 5: 73,100,500 probably null Het
Galnt13 A C 2: 54,880,110 I305L probably benign Het
Guca2a A G 4: 119,637,754 N2D unknown Het
Iqcd C T 5: 120,602,449 R282W probably damaging Het
Lamc1 A C 1: 153,250,522 C475G probably damaging Het
Map3k5 AAAAGAAAAAGA AA 10: 20,110,866 probably null Het
Med13 A T 11: 86,303,549 D789E probably damaging Het
Mfsd7c GTAGTGTATA GTA 12: 85,803,148 probably null Het
Mn1 A G 5: 111,421,785 Y1207C probably damaging Het
Mroh2b A G 15: 4,938,410 D977G possibly damaging Het
Mrpl53 A T 6: 83,109,188 N26I probably damaging Het
Nell1 A T 7: 50,220,012 probably null Het
Ogdh T G 11: 6,349,329 F743V probably benign Het
Olfr1424 A T 19: 12,058,858 M298K possibly damaging Het
Olfr732 C T 14: 50,281,579 V225I probably benign Het
Olfr788 A G 10: 129,473,084 T131A probably benign Het
Pmvk A G 3: 89,468,592 E174G probably benign Het
Pou6f2 T C 13: 18,239,573 N206D Het
Riok1 T A 13: 38,052,320 H347Q probably damaging Het
Ryr1 A G 7: 29,090,225 L1488P probably damaging Het
Shkbp1 A G 7: 27,352,684 V158A probably benign Het
Slc9c1 A G 16: 45,539,713 I43M possibly damaging Het
Slmo1 A T 18: 67,472,948 S42C probably benign Het
Smarca2 A G 19: 26,676,680 N755S possibly damaging Het
Tcof1 G C 18: 60,829,051 A702G possibly damaging Het
Tfb2m G A 1: 179,546,103 P10L probably benign Het
Trim30c T C 7: 104,383,496 M252V probably benign Het
Ttll1 A G 15: 83,500,078 L116P probably damaging Het
Tubd1 C T 11: 86,549,422 H91Y possibly damaging Het
Vgll4 A G 6: 114,862,825 S175P probably damaging Het
Vmn1r79 A G 7: 12,176,488 Y99C possibly damaging Het
Vmn2r80 C T 10: 79,194,316 Q659* probably null Het
Zfp382 A G 7: 30,134,415 D497G possibly damaging Het
Zfp41 A G 15: 75,618,535 E112G probably damaging Het
Zfyve26 A G 12: 79,260,831 S1754P probably damaging Het
Other mutations in 1700057G04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:1700057G04Rik APN 9 92350952 nonsense probably null
IGL01627:1700057G04Rik APN 9 92347811 missense probably damaging 0.99
IGL02118:1700057G04Rik APN 9 92350958 nonsense probably null
R0815:1700057G04Rik UTSW 9 92351087 missense possibly damaging 0.87
R0863:1700057G04Rik UTSW 9 92351087 missense possibly damaging 0.87
R1400:1700057G04Rik UTSW 9 92351127 missense probably benign 0.00
R3689:1700057G04Rik UTSW 9 92352620 missense probably damaging 1.00
R4280:1700057G04Rik UTSW 9 92343648 missense possibly damaging 0.92
R4789:1700057G04Rik UTSW 9 92351031 missense probably damaging 0.98
R4810:1700057G04Rik UTSW 9 92354630 missense probably damaging 1.00
R4880:1700057G04Rik UTSW 9 92354612 missense probably damaging 1.00
R4987:1700057G04Rik UTSW 9 92354584 missense probably damaging 1.00
R5427:1700057G04Rik UTSW 9 92352596 missense probably benign 0.43
R5602:1700057G04Rik UTSW 9 92352668 missense possibly damaging 0.88
R5702:1700057G04Rik UTSW 9 92343688 splice site probably null
R6992:1700057G04Rik UTSW 9 92354672 missense probably benign 0.06
R7243:1700057G04Rik UTSW 9 92343673 missense probably damaging 1.00
RF006:1700057G04Rik UTSW 9 92352649 missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- TGTCCATGTCTCCCAGAGGTAC -3'
(R):5'- CCAAAACATGGCTCATGGATC -3'

Sequencing Primer
(F):5'- AGGATATCATCTAAACTTGGGGTATC -3'
(R):5'- ACATGGCTCATGGATCATTTTTG -3'
Posted On2020-07-13