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: 0.089) question?
Stock # IGL02692
Quality Score
Status
Chromosome 10
Chromosomal Location 100590484-100618401 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 100603548 bp (GRCm38)
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: 65,952,808 V9A probably damaging Het
Actl11 A G 9: 107,929,308 N277D probably benign Het
Adam2 T A 14: 66,074,087 I57F probably damaging Het
Adgrf1 T C 17: 43,303,778 F251S probably damaging Het
Anapc15-ps T C 10: 95,673,227 I64V probably benign Het
Anapc4 T C 5: 52,864,529 V651A probably damaging Het
Atl2 T C 17: 79,865,053 N163D probably benign Het
B4galnt3 G A 6: 120,210,311 R708C probably damaging Het
Capza2 C T 6: 17,654,116 Q56* probably null Het
Cspg4 T A 9: 56,887,454 H824Q probably benign Het
Dock7 G A 4: 98,987,386 P1106S probably damaging Het
Fat4 A G 3: 38,951,086 Y1878C probably damaging Het
Grk2 A T 19: 4,290,688 probably benign Het
Lmbrd2 G A 15: 9,149,068 V13I possibly damaging Het
Loxhd1 G T 18: 77,356,913 C336F probably damaging Het
Morc1 T A 16: 48,510,233 F355L probably null Het
Mov10 C A 3: 104,800,803 E503* probably null Het
Nt5dc3 T A 10: 86,804,778 probably null Het
Olfr317 A G 11: 58,732,517 V216A probably benign Het
Phf20 T A 2: 156,298,578 M724K probably damaging Het
Pla2g2e G T 4: 138,882,559 probably benign Het
Polq T A 16: 37,060,627 V772E probably damaging Het
Rhoh A G 5: 65,892,800 R138G probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sept7 A G 9: 25,296,490 probably benign Het
Serpina9 A C 12: 104,008,406 F163V probably damaging Het
Slc2a13 A T 15: 91,321,658 F442Y probably benign Het
Slc34a1 G A 13: 55,403,236 probably benign Het
Slc6a11 T C 6: 114,162,139 F236S probably damaging Het
Usp1 A G 4: 98,928,960 K130E probably benign Het
Zfp386 A G 12: 116,059,235 E156G probably damaging Het
Zfp957 C T 14: 79,213,385 V325I unknown Het
Other mutations in 1700017N19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01565:1700017N19Rik APN 10 100603360 missense probably damaging 1.00
IGL02159:1700017N19Rik APN 10 100610665 missense probably damaging 1.00
IGL02556:1700017N19Rik APN 10 100610717 critical splice donor site probably null
IGL02629:1700017N19Rik APN 10 100609144 splice site probably benign
IGL02962:1700017N19Rik APN 10 100610593 splice site probably null
R0145:1700017N19Rik UTSW 10 100601921 missense probably damaging 0.96
R0402:1700017N19Rik UTSW 10 100609253 missense probably damaging 0.99
R1514:1700017N19Rik UTSW 10 100612867 missense probably damaging 1.00
R1519:1700017N19Rik UTSW 10 100603528 missense probably damaging 0.98
R1680:1700017N19Rik UTSW 10 100603528 missense probably damaging 0.98
R1686:1700017N19Rik UTSW 10 100612860 missense probably damaging 0.97
R3951:1700017N19Rik UTSW 10 100615296 splice site probably benign
R3952:1700017N19Rik UTSW 10 100615296 splice site probably benign
R4423:1700017N19Rik UTSW 10 100605633 missense probably damaging 0.99
R4905:1700017N19Rik UTSW 10 100612818 splice site probably null
R5507:1700017N19Rik UTSW 10 100609233 missense probably benign 0.02
R5898:1700017N19Rik UTSW 10 100612900 missense possibly damaging 0.56
R5898:1700017N19Rik UTSW 10 100615208 missense probably benign 0.20
R5977:1700017N19Rik UTSW 10 100615244 missense probably damaging 0.99
R7034:1700017N19Rik UTSW 10 100609256 critical splice donor site probably null
R7036:1700017N19Rik UTSW 10 100609256 critical splice donor site probably null
R7394:1700017N19Rik UTSW 10 100609176 missense probably benign 0.01
R7412:1700017N19Rik UTSW 10 100612829 nonsense probably null
R7870:1700017N19Rik UTSW 10 100605643 missense probably benign
R7914:1700017N19Rik UTSW 10 100592676 missense probably benign
R8466:1700017N19Rik UTSW 10 100602011 missense probably benign 0.00
R8558:1700017N19Rik UTSW 10 100594635 missense probably benign 0.23
R9004:1700017N19Rik UTSW 10 100618335 unclassified probably benign
R9105:1700017N19Rik UTSW 10 100603545 nonsense probably null
R9641:1700017N19Rik UTSW 10 100594636 missense possibly damaging 0.91
Z1088:1700017N19Rik UTSW 10 100605639 missense probably damaging 1.00
Z1176:1700017N19Rik UTSW 10 100612429 missense probably damaging 0.98
Posted On 2015-04-16