Incidental Mutation 'R4423:1700017N19Rik'
ID 327218
Institutional Source Beutler Lab
Gene Symbol 1700017N19Rik
Ensembl Gene ENSMUSG00000056912
Gene Name RIKEN cDNA 1700017N19 gene
Synonyms
MMRRC Submission 041143-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R4423 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 100426346-100454257 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 100441495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 100 (P100Q)
Ref Sequence ENSEMBL: ENSMUSP00000140717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041162] [ENSMUST00000186825] [ENSMUST00000187119] [ENSMUST00000188736] [ENSMUST00000188930] [ENSMUST00000190386] [ENSMUST00000190708] [ENSMUST00000191336] [ENSMUST00000218464] [ENSMUST00000191033]
AlphaFold A0A087WPJ1
Predicted Effect probably damaging
Transcript: ENSMUST00000041162
AA Change: P168Q

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000186825
Predicted Effect probably damaging
Transcript: ENSMUST00000187119
AA Change: P168Q

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000188736
AA Change: P168Q

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000188930
Predicted Effect probably damaging
Transcript: ENSMUST00000190386
AA Change: P168Q

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000190708
AA Change: P222Q

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000191336
AA Change: P100Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000218464
AA Change: P168Q

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000191033
Meta Mutation Damage Score 0.0698 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik A G 16: 14,436,577 (GRCm39) Y210C probably benign Het
Arfgap1 C A 2: 180,622,869 (GRCm39) D327E probably benign Het
Arhgef9 T G X: 94,144,670 (GRCm39) I131L possibly damaging Het
Asgr2 G A 11: 69,996,211 (GRCm39) V218I probably benign Het
Capns2 T A 8: 93,628,252 (GRCm39) I47N possibly damaging Het
Cep44 G A 8: 56,991,652 (GRCm39) P317S probably benign Het
Cfap144 A T 11: 58,687,357 (GRCm39) probably null Het
Cnot10 T A 9: 114,446,988 (GRCm39) I363F probably damaging Het
Coch T A 12: 51,644,932 (GRCm39) probably null Het
Dnah1 C T 14: 31,006,718 (GRCm39) G2199D probably benign Het
Dock9 A G 14: 121,799,465 (GRCm39) probably null Het
Dst T C 1: 34,227,474 (GRCm39) I1689T possibly damaging Het
Eif2ak4 T C 2: 118,269,547 (GRCm39) F762S probably benign Het
Eif2b5 A G 16: 20,320,469 (GRCm39) D195G probably benign Het
Elmo1 C G 13: 20,784,382 (GRCm39) Y646* probably null Het
Far1 T A 7: 113,139,805 (GRCm39) S84R probably damaging Het
Fhod1 T C 8: 106,063,983 (GRCm39) probably benign Het
Galnt15 A T 14: 31,780,226 (GRCm39) I508F possibly damaging Het
Grik1 T C 16: 87,720,088 (GRCm39) T745A probably benign Het
Hira A G 16: 18,774,952 (GRCm39) D959G possibly damaging Het
Hsf5 T C 11: 87,522,460 (GRCm39) L351P probably damaging Het
Icosl C T 10: 77,907,707 (GRCm39) T89I possibly damaging Het
Iws1 T A 18: 32,216,503 (GRCm39) N414K probably damaging Het
Kif1b A G 4: 149,298,562 (GRCm39) S1035P probably damaging Het
Lcp2 G T 11: 34,028,226 (GRCm39) probably benign Het
Map4 C T 9: 109,896,662 (GRCm39) T631I probably damaging Het
Nepn T A 10: 52,267,911 (GRCm39) I59N probably damaging Het
Nin T A 12: 70,089,752 (GRCm39) K1221M probably damaging Het
Nup155 A G 15: 8,150,948 (GRCm39) T333A probably damaging Het
Or10d4c A G 9: 39,558,412 (GRCm39) Y130C probably damaging Het
Or52h9 T C 7: 104,202,552 (GRCm39) V142A probably benign Het
Or8b43 A G 9: 38,360,662 (GRCm39) T165A probably benign Het
Plod2 T C 9: 92,484,042 (GRCm39) L502S probably benign Het
Pnpt1 A G 11: 29,103,375 (GRCm39) probably null Het
Ppat A G 5: 77,063,061 (GRCm39) W517R probably damaging Het
Ppp1r16b C T 2: 158,599,174 (GRCm39) T382I probably benign Het
Prkcq T C 2: 11,260,980 (GRCm39) I344T possibly damaging Het
Rbl1 A G 2: 157,010,875 (GRCm39) probably benign Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Sec62 T C 3: 30,868,431 (GRCm39) M220T unknown Het
Shprh T G 10: 11,062,262 (GRCm39) V1219G possibly damaging Het
Slc25a46 T C 18: 31,742,651 (GRCm39) T72A probably benign Het
Slc4a2 G A 5: 24,644,846 (GRCm39) W1040* probably null Het
Slc5a1 T C 5: 33,312,018 (GRCm39) V470A possibly damaging Het
Spmap2l T C 5: 77,202,383 (GRCm39) I268T possibly damaging Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Tex47 G T 5: 7,355,364 (GRCm39) A182S probably benign Het
Top2a A G 11: 98,892,231 (GRCm39) I1077T probably benign Het
Tpcn1 T C 5: 120,680,583 (GRCm39) K549R probably damaging Het
Trpm2 T C 10: 77,770,902 (GRCm39) D678G probably benign Het
Tut7 T C 13: 59,969,863 (GRCm39) K11E probably damaging Het
Ube3a T C 7: 58,925,861 (GRCm39) I234T probably benign Het
Vmn2r57 T C 7: 41,076,064 (GRCm39) K483E probably damaging Het
Wnk1 T A 6: 119,903,387 (GRCm39) S2111C probably damaging 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
IGL02692:1700017N19Rik APN 10 100,439,410 (GRCm39) missense probably benign 0.05
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
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
Predicted Primers PCR Primer
(F):5'- GCCGATTACTTACCAATCCAAGTAAG -3'
(R):5'- TATGATGTATCTCCAAACCCTGC -3'

Sequencing Primer
(F):5'- GCTTATGTGTCATTTGCCAG -3'
(R):5'- TATCTCCAAACCCTGCATTAATTAGC -3'
Posted On 2015-07-07