Incidental Mutation 'R1519:1700017N19Rik'
ID 167300
Institutional Source Beutler Lab
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 # R1519 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 100426346-100454257 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 100439390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Arginine at position 187 (P187R)
Ref Sequence ENSEMBL: ENSMUSP00000139797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041162] [ENSMUST00000186825] [ENSMUST00000187119] [ENSMUST00000188736] [ENSMUST00000188930] [ENSMUST00000190386] [ENSMUST00000191336] [ENSMUST00000190708] [ENSMUST00000218464]
AlphaFold A0A087WPJ1
Predicted Effect probably damaging
Transcript: ENSMUST00000041162
AA Change: P133R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000186825
Predicted Effect probably damaging
Transcript: ENSMUST00000187119
AA Change: P133R

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000188736
AA Change: P133R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000188930
Predicted Effect probably damaging
Transcript: ENSMUST00000190386
AA Change: P133R

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000191336
AA Change: P65R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000190708
AA Change: P187R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000218464
AA Change: P133R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,208,079 (GRCm39) probably null Het
Acadvl A G 11: 69,905,617 (GRCm39) probably null Het
Actn1 T C 12: 80,251,852 (GRCm39) E75G probably damaging Het
Adam4 A T 12: 81,467,651 (GRCm39) N323K possibly damaging Het
Anks6 G A 4: 47,027,152 (GRCm39) R689W probably damaging Het
Anxa2 T C 9: 69,392,523 (GRCm39) I124T probably damaging Het
Aph1c T C 9: 66,740,547 (GRCm39) T10A probably benign Het
Arhgap40 T A 2: 158,388,721 (GRCm39) W552R probably benign Het
Baz2b C T 2: 59,778,598 (GRCm39) R754H possibly damaging Het
Blmh A G 11: 76,857,607 (GRCm39) Y147C probably damaging Het
C1galt1 C T 6: 7,866,402 (GRCm39) L83F probably damaging Het
Ccdc168 A G 1: 44,096,130 (GRCm39) V1656A probably benign Het
Cdh23 A T 10: 60,215,122 (GRCm39) Y1403N possibly damaging Het
Cic A T 7: 24,993,235 (GRCm39) probably null Het
Coro1b T A 19: 4,200,583 (GRCm39) V200D possibly damaging Het
Csl T A 10: 99,593,817 (GRCm39) E416V probably damaging Het
Cyp3a25 A G 5: 145,938,257 (GRCm39) probably null Het
Dennd2d T A 3: 106,399,875 (GRCm39) F266Y probably damaging Het
Dnah10 A G 5: 124,838,016 (GRCm39) E1072G probably damaging Het
Dnah6 T A 6: 73,026,031 (GRCm39) K3435N probably damaging Het
Dnah9 G A 11: 65,772,587 (GRCm39) A3715V probably damaging Het
Fam186a G A 15: 99,845,536 (GRCm39) S236L unknown Het
Frs3 A G 17: 48,013,903 (GRCm39) T199A probably benign Het
Fsd1 A G 17: 56,300,870 (GRCm39) N243S probably benign Het
Gabra5 A C 7: 57,058,641 (GRCm39) L369R probably benign Het
Gask1b A G 3: 79,848,771 (GRCm39) N506D possibly damaging Het
Gins4 A G 8: 23,724,792 (GRCm39) V54A probably benign Het
Gli1 T C 10: 127,170,138 (GRCm39) E339G possibly damaging Het
Gm12185 A G 11: 48,798,594 (GRCm39) V633A probably damaging Het
Gpr83 T A 9: 14,779,493 (GRCm39) C182S probably null Het
Gspt1 A G 16: 11,038,719 (GRCm39) V627A probably damaging Het
Heatr1 T C 13: 12,427,040 (GRCm39) C722R probably benign Het
Jak1 C T 4: 101,020,119 (GRCm39) R680Q probably damaging Het
Kif2c A G 4: 117,027,137 (GRCm39) V287A probably damaging Het
Kmo C T 1: 175,479,184 (GRCm39) P240L possibly damaging Het
Kmo A G 1: 175,484,368 (GRCm39) E366G probably damaging Het
Lepr A T 4: 101,646,541 (GRCm39) N824I probably damaging Het
Lyrm7 T A 11: 54,739,425 (GRCm39) H75L possibly damaging Het
Map4k1 A T 7: 28,690,461 (GRCm39) Q351L probably benign Het
Matcap2 T G 9: 22,341,671 (GRCm39) L114R probably benign Het
Mgam T C 6: 40,638,617 (GRCm39) I450T probably benign Het
Nbeal2 A G 9: 110,465,373 (GRCm39) L955P probably damaging Het
Nlrp9c T C 7: 26,077,526 (GRCm39) K752R possibly damaging Het
Nsmaf A T 4: 6,438,062 (GRCm39) I70K probably benign Het
Or14a257 A G 7: 86,138,333 (GRCm39) M142T probably damaging Het
Or5ac19 C T 16: 59,089,307 (GRCm39) C241Y probably damaging Het
Otud7a A G 7: 63,408,391 (GRCm39) Y898C probably damaging Het
Pcdhb18 A C 18: 37,623,945 (GRCm39) D425A probably damaging Het
Prdm1 A T 10: 44,315,982 (GRCm39) L733* probably null Het
Prdm2 A T 4: 142,862,153 (GRCm39) I379N probably damaging Het
Ptprg A T 14: 12,220,596 (GRCm38) Y436F probably damaging Het
Riok3 A G 18: 12,270,363 (GRCm39) D167G probably damaging Het
Rnf215 G T 11: 4,085,451 (GRCm39) R60L probably damaging Het
Scart1 G A 7: 139,808,069 (GRCm39) V747I probably benign Het
Sdk1 A T 5: 141,985,705 (GRCm39) H779L probably benign Het
Serpine2 A G 1: 79,772,748 (GRCm39) F390L probably damaging Het
Sh3d21 T A 4: 126,045,519 (GRCm39) K387* probably null Het
Slc13a2 T C 11: 78,288,572 (GRCm39) Y568C possibly damaging Het
Slc27a5 T C 7: 12,722,386 (GRCm39) probably null Het
Slc32a1 T C 2: 158,456,497 (GRCm39) L384P probably damaging Het
Sorcs1 T C 19: 50,241,025 (GRCm39) N454D probably benign Het
Spag8 T C 4: 43,652,777 (GRCm39) Y228C possibly damaging Het
Spata31e4 G A 13: 50,854,443 (GRCm39) probably null Het
Spc25 T C 2: 69,030,431 (GRCm39) I71V probably damaging Het
Tcte1 T A 17: 45,846,178 (GRCm39) F261I probably damaging Het
Thsd7a T A 6: 12,471,174 (GRCm39) K481N probably benign Het
Tll2 G T 19: 41,074,839 (GRCm39) N908K probably benign Het
Tmem236 T C 2: 14,197,091 (GRCm39) V93A probably benign Het
Top2b G A 14: 16,408,953 (GRCm38) probably null Het
Topaz1 G A 9: 122,596,076 (GRCm39) S949N probably benign Het
Triobp A G 15: 78,857,938 (GRCm39) T1180A probably benign Het
Trip11 A C 12: 101,852,419 (GRCm39) D548E probably benign Het
Trpv2 T A 11: 62,480,652 (GRCm39) probably null Het
Ulbp3 A G 10: 3,075,230 (GRCm39) noncoding transcript Het
Vmn1r12 T A 6: 57,136,540 (GRCm39) H212Q probably damaging Het
Vmn2r112 A G 17: 22,837,884 (GRCm39) T782A possibly damaging Het
Vmn2r7 A G 3: 64,623,876 (GRCm39) V239A possibly damaging Het
Vmn2r80 T A 10: 79,030,053 (GRCm39) N626K probably damaging Het
Vmn2r99 A G 17: 19,600,322 (GRCm39) S449G probably benign Het
Wfikkn2 T C 11: 94,128,933 (GRCm39) T403A probably benign Het
Xirp2 A G 2: 67,346,023 (GRCm39) I2755V probably benign Het
Yjefn3 A G 8: 70,341,729 (GRCm39) V153A probably benign Het
Zfp677 C A 17: 21,617,499 (GRCm39) H185Q possibly damaging Het
Zfp947 C T 17: 22,365,273 (GRCm39) V134I probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AGGCATAAGCCCACTCTCTTCTACC -3'
(R):5'- AGTGCCTTTCTCACTCACAAACTGG -3'

Sequencing Primer
(F):5'- GCATCTTGAAATAAGAGTTTGCACAC -3'
(R):5'- ATTTATCATTTCATCCTGCTCTAGTG -3'
Posted On 2014-04-13