Incidental Mutation 'IGL02692:1700017N19Rik'
ID 303784
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 1700017N19Rik
Ensembl Gene ENSMUSG00000056912
Gene Name RIKEN cDNA 1700017N19 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL02692
Quality Score
Status
Chromosome 10
Chromosomal Location 100426346-100454257 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 100439410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 72 (S72R)
Ref Sequence ENSEMBL: ENSMUSP00000140717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041162] [ENSMUST00000186825] [ENSMUST00000187119] [ENSMUST00000188736] [ENSMUST00000188930] [ENSMUST00000190386] [ENSMUST00000190708] [ENSMUST00000191336] [ENSMUST00000218464]
AlphaFold A0A087WPJ1
Predicted Effect probably benign
Transcript: ENSMUST00000041162
AA Change: S140R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000186825
Predicted Effect probably benign
Transcript: ENSMUST00000187119
AA Change: S140R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000188736
AA Change: S140R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000188930
Predicted Effect probably benign
Transcript: ENSMUST00000190386
AA Change: S140R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000190708
AA Change: S194R

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000191336
AA Change: S72R

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000218464
AA Change: S140R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik T C 6: 65,929,792 (GRCm39) V9A probably damaging Het
Actl11 A G 9: 107,806,507 (GRCm39) N277D probably benign Het
Adam2 T A 14: 66,311,536 (GRCm39) I57F probably damaging Het
Adgrf1 T C 17: 43,614,669 (GRCm39) F251S probably damaging Het
Anapc15-ps T C 10: 95,509,089 (GRCm39) I64V probably benign Het
Anapc4 T C 5: 53,021,871 (GRCm39) V651A probably damaging Het
Atl2 T C 17: 80,172,482 (GRCm39) N163D probably benign Het
B4galnt3 G A 6: 120,187,272 (GRCm39) R708C probably damaging Het
Capza2 C T 6: 17,654,115 (GRCm39) Q56* probably null Het
Cspg4 T A 9: 56,794,738 (GRCm39) H824Q probably benign Het
Dock7 G A 4: 98,875,623 (GRCm39) P1106S probably damaging Het
Fat4 A G 3: 39,005,235 (GRCm39) Y1878C probably damaging Het
Grk2 A T 19: 4,340,716 (GRCm39) probably benign Het
Lmbrd2 G A 15: 9,149,155 (GRCm39) V13I possibly damaging Het
Loxhd1 G T 18: 77,444,609 (GRCm39) C336F probably damaging Het
Morc1 T A 16: 48,330,596 (GRCm39) F355L probably null Het
Mov10 C A 3: 104,708,119 (GRCm39) E503* probably null Het
Nt5dc3 T A 10: 86,640,642 (GRCm39) probably null Het
Or2w3b A G 11: 58,623,343 (GRCm39) V216A probably benign Het
Phf20 T A 2: 156,140,498 (GRCm39) M724K probably damaging Het
Pla2g2e G T 4: 138,609,870 (GRCm39) probably benign Het
Polq T A 16: 36,880,989 (GRCm39) V772E probably damaging Het
Rhoh A G 5: 66,050,143 (GRCm39) R138G probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Septin7 A G 9: 25,207,786 (GRCm39) probably benign Het
Serpina9 A C 12: 103,974,665 (GRCm39) F163V probably damaging Het
Slc2a13 A T 15: 91,205,861 (GRCm39) F442Y probably benign Het
Slc34a1 G A 13: 55,551,049 (GRCm39) probably benign Het
Slc6a11 T C 6: 114,139,100 (GRCm39) F236S probably damaging Het
Usp1 A G 4: 98,817,197 (GRCm39) K130E probably benign Het
Zfp386 A G 12: 116,022,855 (GRCm39) E156G probably damaging Het
Zfp957 C T 14: 79,450,825 (GRCm39) V325I unknown Het
Other mutations in 1700017N19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01565:1700017N19Rik APN 10 100,439,222 (GRCm39) missense probably damaging 1.00
IGL02159:1700017N19Rik APN 10 100,446,527 (GRCm39) missense probably damaging 1.00
IGL02556:1700017N19Rik APN 10 100,446,579 (GRCm39) critical splice donor site probably null
IGL02629:1700017N19Rik APN 10 100,445,006 (GRCm39) splice site probably benign
IGL02962:1700017N19Rik APN 10 100,446,455 (GRCm39) splice site probably null
R0145:1700017N19Rik UTSW 10 100,437,783 (GRCm39) missense probably damaging 0.96
R0402:1700017N19Rik UTSW 10 100,445,115 (GRCm39) missense probably damaging 0.99
R1514:1700017N19Rik UTSW 10 100,448,729 (GRCm39) missense probably damaging 1.00
R1519:1700017N19Rik UTSW 10 100,439,390 (GRCm39) missense probably damaging 0.98
R1680:1700017N19Rik UTSW 10 100,439,390 (GRCm39) missense probably damaging 0.98
R1686:1700017N19Rik UTSW 10 100,448,722 (GRCm39) missense probably damaging 0.97
R3951:1700017N19Rik UTSW 10 100,451,158 (GRCm39) splice site probably benign
R3952:1700017N19Rik UTSW 10 100,451,158 (GRCm39) splice site probably benign
R4423:1700017N19Rik UTSW 10 100,441,495 (GRCm39) missense probably damaging 0.99
R4905:1700017N19Rik UTSW 10 100,448,680 (GRCm39) splice site probably null
R5507:1700017N19Rik UTSW 10 100,445,095 (GRCm39) missense probably benign 0.02
R5898:1700017N19Rik UTSW 10 100,451,070 (GRCm39) missense probably benign 0.20
R5898:1700017N19Rik UTSW 10 100,448,762 (GRCm39) missense possibly damaging 0.56
R5977:1700017N19Rik UTSW 10 100,451,106 (GRCm39) missense probably damaging 0.99
R7034:1700017N19Rik UTSW 10 100,445,118 (GRCm39) critical splice donor site probably null
R7036:1700017N19Rik UTSW 10 100,445,118 (GRCm39) critical splice donor site probably null
R7394:1700017N19Rik UTSW 10 100,445,038 (GRCm39) missense probably benign 0.01
R7412:1700017N19Rik UTSW 10 100,448,691 (GRCm39) nonsense probably null
R7870:1700017N19Rik UTSW 10 100,441,505 (GRCm39) missense probably benign
R7914:1700017N19Rik UTSW 10 100,428,538 (GRCm39) missense probably benign
R8466:1700017N19Rik UTSW 10 100,437,873 (GRCm39) missense probably benign 0.00
R8558:1700017N19Rik UTSW 10 100,430,497 (GRCm39) missense probably benign 0.23
R9004:1700017N19Rik UTSW 10 100,454,197 (GRCm39) unclassified probably benign
R9105:1700017N19Rik UTSW 10 100,439,407 (GRCm39) nonsense probably null
R9641:1700017N19Rik UTSW 10 100,430,498 (GRCm39) missense possibly damaging 0.91
Z1088:1700017N19Rik UTSW 10 100,441,501 (GRCm39) missense probably damaging 1.00
Z1176:1700017N19Rik UTSW 10 100,448,291 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16