Incidental Mutation 'R5154:1700009N14Rik'
ID 396564
Institutional Source Beutler Lab
Gene Symbol 1700009N14Rik
Ensembl Gene ENSMUSG00000028287
Gene Name RIKEN cDNA 1700009N14 gene
Synonyms
MMRRC Submission 042736-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.903) question?
Stock # R5154 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 39450295-39451776 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 39450938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 48 (H48P)
Ref Sequence ENSEMBL: ENSMUSP00000029955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029955]
AlphaFold Q14AA6
Predicted Effect probably damaging
Transcript: ENSMUST00000029955
AA Change: H48P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029955
Gene: ENSMUSG00000028287
AA Change: H48P

DomainStartEndE-ValueType
RAN 16 216 3.9e-163 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169881
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl7 C T 4: 148,581,882 (GRCm39) R168H probably damaging Het
Ankrd11 A C 8: 123,619,878 (GRCm39) F1325V probably damaging Het
Ankrd13c A G 3: 157,694,297 (GRCm39) D266G possibly damaging Het
Apold1 A T 6: 134,960,636 (GRCm39) H30L possibly damaging Het
Arel1 A G 12: 84,978,547 (GRCm39) F362L probably benign Het
Arhgef4 T A 1: 34,771,455 (GRCm39) M1254K probably benign Het
Arid2 T A 15: 96,299,866 (GRCm39) V1793E probably damaging Het
Bcl7a T C 5: 123,507,422 (GRCm39) S156P probably damaging Het
Cbr3 A G 16: 93,482,027 (GRCm39) I128V probably benign Het
Cct6b G A 11: 82,630,521 (GRCm39) P299L probably damaging Het
Cd180 A T 13: 102,842,282 (GRCm39) N443Y probably damaging Het
Cd80 A G 16: 38,294,342 (GRCm39) K75R probably benign Het
Cdk1 A T 10: 69,176,298 (GRCm39) probably benign Het
Cep192 T A 18: 67,983,755 (GRCm39) F1565I probably damaging Het
Chtf18 T C 17: 25,942,694 (GRCm39) T412A probably damaging Het
Cit T C 5: 116,126,464 (GRCm39) L1590P probably damaging Het
Clcn2 T A 16: 20,522,053 (GRCm39) R845S probably benign Het
Cndp2 C T 18: 84,686,727 (GRCm39) V432I probably benign Het
Cnnm2 A T 19: 46,751,571 (GRCm39) R454W probably benign Het
Cpne8 T G 15: 90,384,121 (GRCm39) I480L probably benign Het
Cr2 A G 1: 194,841,754 (GRCm39) W400R probably damaging Het
Cul5 A G 9: 53,537,167 (GRCm39) L528P probably damaging Het
Dlgap5 C T 14: 47,651,177 (GRCm39) V119M probably damaging Het
Dnah12 T C 14: 26,571,320 (GRCm39) S190P probably benign Het
Dnah3 T A 7: 119,551,642 (GRCm39) K2881N probably damaging Het
Dnmt3a A T 12: 3,946,008 (GRCm39) I288F probably damaging Het
Dse T A 10: 34,029,657 (GRCm39) T478S possibly damaging Het
Edn1 C T 13: 42,458,499 (GRCm39) T104I probably benign Het
Eef2 GCCC GCCCC 10: 81,014,601 (GRCm39) probably null Het
Eprs1 A G 1: 185,145,662 (GRCm39) H1157R probably damaging Het
Fam168b G A 1: 34,857,180 (GRCm39) T179I possibly damaging Het
Fzd5 A G 1: 64,775,131 (GRCm39) V210A probably benign Het
Gm9742 T C 13: 8,085,081 (GRCm39) noncoding transcript Het
Gpc1 G A 1: 92,784,751 (GRCm39) G308D probably damaging Het
Gpr141 C T 13: 19,936,412 (GRCm39) R121K probably benign Het
Greb1l A G 18: 10,458,312 (GRCm39) T30A probably benign Het
Grk3 A T 5: 113,089,583 (GRCm39) I281N probably damaging Het
Hnrnpdl A T 5: 100,184,371 (GRCm39) Y289* probably null Het
Hsf2 T G 10: 57,380,808 (GRCm39) V214G probably benign Het
Igf2bp1 G A 11: 95,854,373 (GRCm39) Q563* probably null Het
Il31ra T A 13: 112,660,531 (GRCm39) D605V possibly damaging Het
Insm2 G A 12: 55,646,982 (GRCm39) C242Y probably damaging Het
Ints3 C T 3: 90,322,868 (GRCm39) V121I probably benign Het
Kcnt2 A T 1: 140,278,994 (GRCm39) L48F possibly damaging Het
Kit G A 5: 75,801,200 (GRCm39) V529M probably damaging Het
Mark2 G A 19: 7,260,439 (GRCm39) P13S probably damaging Het
Mthfsd A G 8: 121,825,479 (GRCm39) V364A probably damaging Het
Mtmr11 C G 3: 96,071,636 (GRCm39) S185R probably benign Het
Myot A G 18: 44,487,281 (GRCm39) I373V probably benign Het
N4bp3 A T 11: 51,536,139 (GRCm39) V231D probably benign Het
Or5t17 T C 2: 86,832,382 (GRCm39) V23A probably benign Het
Or8k39 A T 2: 86,563,121 (GRCm39) Y278* probably null Het
Pdcd6ip A G 9: 113,520,610 (GRCm39) F125L probably damaging Het
Prpf39 A T 12: 65,095,051 (GRCm39) Q124L probably benign Het
Reln A T 5: 22,193,763 (GRCm39) N1398K probably damaging Het
Rhod A T 19: 4,482,122 (GRCm39) D97E probably damaging Het
Rxra T C 2: 27,647,880 (GRCm39) probably null Het
Slc1a3 T C 15: 8,672,433 (GRCm39) I349V probably benign Het
Slc37a2 A T 9: 37,142,939 (GRCm39) *502R probably null Het
Slc9b1 T C 3: 135,078,940 (GRCm39) I199T probably damaging Het
Spart C T 3: 55,024,750 (GRCm39) P115L probably damaging Het
Tnpo1 A T 13: 99,006,813 (GRCm39) C205S possibly damaging Het
Tubb1 T A 2: 174,298,657 (GRCm39) I113N probably benign Het
Tyrp1 G A 4: 80,768,954 (GRCm39) V483I probably benign Het
Vwde T C 6: 13,215,757 (GRCm39) S100G probably benign Het
Zfhx3 A T 8: 109,527,207 (GRCm39) I1035F probably damaging Het
Zfp618 G T 4: 63,051,446 (GRCm39) K742N probably damaging Het
Zfp873 T C 10: 81,896,025 (GRCm39) V252A possibly damaging Het
Other mutations in 1700009N14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00688:1700009N14Rik APN 4 39,451,443 (GRCm39) missense probably benign 0.01
PIT4377001:1700009N14Rik UTSW 4 39,451,129 (GRCm39) missense possibly damaging 0.76
R0308:1700009N14Rik UTSW 4 39,450,989 (GRCm39) missense probably damaging 1.00
R5061:1700009N14Rik UTSW 4 39,450,953 (GRCm39) missense probably benign 0.03
R5507:1700009N14Rik UTSW 4 39,451,084 (GRCm39) missense probably damaging 0.96
R6463:1700009N14Rik UTSW 4 39,450,938 (GRCm39) missense probably damaging 0.98
R6924:1700009N14Rik UTSW 4 39,450,884 (GRCm39) missense probably damaging 1.00
R7253:1700009N14Rik UTSW 4 39,451,391 (GRCm39) missense not run
R7487:1700009N14Rik UTSW 4 39,450,929 (GRCm39) missense probably damaging 1.00
R7790:1700009N14Rik UTSW 4 39,451,201 (GRCm39) missense possibly damaging 0.89
R8758:1700009N14Rik UTSW 4 39,450,811 (GRCm39) missense probably benign
R9379:1700009N14Rik UTSW 4 39,451,201 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- CCAATCTTTCCTTAGTGGGACAGTG -3'
(R):5'- GGGATGTTTTCACACACCCG -3'

Sequencing Primer
(F):5'- CCTTAGTGGGACAGTGTGGAGAC -3'
(R):5'- GTACCAGATCCCTATGCCAGTTGG -3'
Posted On 2016-06-21