Incidental Mutation 'R7870:1700017N19Rik'
ID 608054
Institutional Source Beutler Lab
Gene Symbol 1700017N19Rik
Ensembl Gene ENSMUSG00000056912
Gene Name RIKEN cDNA 1700017N19 gene
Synonyms
MMRRC Submission 045922-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R7870 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 100426346-100454257 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 100441505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 171 (F171L)
Ref Sequence ENSEMBL: ENSMUSP00000042828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041162] [ENSMUST00000186825] [ENSMUST00000187119] [ENSMUST00000188736] [ENSMUST00000188930] [ENSMUST00000190386] [ENSMUST00000190708] [ENSMUST00000191033] [ENSMUST00000191336] [ENSMUST00000218464]
AlphaFold A0A087WPJ1
Predicted Effect probably benign
Transcript: ENSMUST00000041162
AA Change: F171L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000186825
Predicted Effect probably benign
Transcript: ENSMUST00000187119
AA Change: F171L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000188736
AA Change: F171L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000188930
Predicted Effect probably benign
Transcript: ENSMUST00000190386
AA Change: F171L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000190708
AA Change: F225L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000191033
Predicted Effect probably benign
Transcript: ENSMUST00000191336
AA Change: F103L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000218464
AA Change: F171L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik A T 17: 37,288,909 (GRCm39) C152S unknown Het
Alb T C 5: 90,620,488 (GRCm39) F533L possibly damaging Het
Alox12b T C 11: 69,060,135 (GRCm39) M616T possibly damaging Het
Atxn2l A G 7: 126,091,924 (GRCm39) F968L probably benign Het
Cadps2 G T 6: 23,263,641 (GRCm39) H1227Q probably benign Het
Cdh18 A T 15: 23,474,413 (GRCm39) D761V possibly damaging Het
Cdkl3 T C 11: 51,909,284 (GRCm39) probably null Het
Chrdl2 T C 7: 99,659,249 (GRCm39) L9P unknown Het
Ctr9 A G 7: 110,651,618 (GRCm39) E946G unknown Het
Cygb T A 11: 116,540,116 (GRCm39) T178S probably benign Het
Cyp2c67 A C 19: 39,597,669 (GRCm39) M443R probably damaging Het
Dnah12 A G 14: 26,578,486 (GRCm39) T3082A probably benign Het
Flnc C T 6: 29,454,306 (GRCm39) T1906I probably damaging Het
Gm14496 A G 2: 181,637,906 (GRCm39) I327V probably benign Het
Gm29106 T A 1: 118,126,885 (GRCm39) N192K possibly damaging Het
H3f3a A T 1: 180,639,490 (GRCm39) M1K probably null Het
Htt T A 5: 35,055,891 (GRCm39) W2601R possibly damaging Het
Il18r1 T A 1: 40,530,296 (GRCm39) I341K probably benign Het
Kcnj1 G A 9: 32,307,881 (GRCm39) V102I probably benign Het
Lrp3 C A 7: 34,910,922 (GRCm39) G41V probably damaging Het
Lrrc9 G T 12: 72,532,964 (GRCm39) K944N probably damaging Het
Mettl21e T A 1: 44,249,371 (GRCm39) E95V probably damaging Het
Mib1 G A 18: 10,798,446 (GRCm39) R769Q possibly damaging Het
Myh7 C G 14: 55,226,258 (GRCm39) D461H probably damaging Het
Mymk A G 2: 26,952,298 (GRCm39) S190P probably damaging Het
Neb G A 2: 52,215,761 (GRCm39) P182L probably damaging Het
Nfil3 A G 13: 53,122,449 (GRCm39) Y152H probably damaging Het
Nisch A G 14: 30,894,052 (GRCm39) Y1174H probably damaging Het
Nyap1 G C 5: 137,733,658 (GRCm39) Y458* probably null Het
Or4d5 A C 9: 40,011,973 (GRCm39) V271G possibly damaging Het
Or52z13 T A 7: 103,247,473 (GRCm39) C317S probably damaging Het
Or5h17 G A 16: 58,820,086 (GRCm39) V13I probably benign Het
Pars2 T A 4: 106,511,276 (GRCm39) Y353N probably damaging Het
Patj G T 4: 98,312,553 (GRCm39) G297V probably damaging Het
Pcdh9 A T 14: 94,124,693 (GRCm39) S492R probably damaging Het
Pcyox1 G A 6: 86,369,323 (GRCm39) R168C probably damaging Het
Plbd1 A T 6: 136,594,326 (GRCm39) Y308N possibly damaging Het
Rax A G 18: 66,071,284 (GRCm39) V117A probably benign Het
Rdh9 C A 10: 127,612,566 (GRCm39) N71K probably benign Het
Sap130 A G 18: 31,853,714 (GRCm39) N968S probably benign Het
Sema5a A T 15: 32,609,485 (GRCm39) I464F probably benign Het
Sez6l T G 5: 112,586,447 (GRCm39) D683A probably damaging Het
Slit2 C A 5: 48,459,649 (GRCm39) P1310T probably damaging Het
Snap47 T C 11: 59,328,904 (GRCm39) M133V probably benign Het
Son TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC 16: 91,453,486 (GRCm39) probably benign Het
Srcap G A 7: 127,159,730 (GRCm39) S3202N unknown Het
Ssh2 T C 11: 77,344,441 (GRCm39) W809R probably benign Het
Stau1 G T 2: 166,792,870 (GRCm39) A365D possibly damaging Het
Tfpi2 A G 6: 3,968,281 (GRCm39) L15P probably damaging Het
Thbs1 A T 2: 117,945,508 (GRCm39) N329I possibly damaging Het
Tmem65 A T 15: 58,659,010 (GRCm39) D184E probably damaging Het
Trpm6 G T 19: 18,792,605 (GRCm39) E676D probably benign Het
Vdr T G 15: 97,782,771 (GRCm39) D17A possibly damaging Het
Vmn1r123 C T 7: 20,896,192 (GRCm39) T28I probably damaging Het
Wdr90 A G 17: 26,079,513 (GRCm39) L207P probably damaging Het
Zfp354c TGTCACACTCG TG 11: 50,706,065 (GRCm39) probably benign Het
Zfp598 A G 17: 24,898,304 (GRCm39) E402G 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
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
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'- GCCGATTACTTACCAATCCAAG -3'
(R):5'- TATGATGTATCTCCAAACCCTGC -3'

Sequencing Primer
(F):5'- CGATTACTTACCAATCCAAGTAAGAG -3'
(R):5'- TATCTCCAAACCCTGCATTAATTAGC -3'
Posted On 2019-12-20