Incidental Mutation 'R1747:1700029H14Rik'
ID 194053
Institutional Source Beutler Lab
Gene Symbol 1700029H14Rik
Ensembl Gene ENSMUSG00000031452
Gene Name RIKEN cDNA 1700029H14 gene
Synonyms
MMRRC Submission 039779-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1747 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 13600733-13612461 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 13608814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 117 (S117N)
Ref Sequence ENSEMBL: ENSMUSP00000147812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033830] [ENSMUST00000134023] [ENSMUST00000151400] [ENSMUST00000187391] [ENSMUST00000209207]
AlphaFold E9PY36
Predicted Effect possibly damaging
Transcript: ENSMUST00000033830
AA Change: S117N

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132787
Predicted Effect probably damaging
Transcript: ENSMUST00000134023
AA Change: S117N

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000151400
AA Change: S117N

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000187391
AA Change: S117N

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably damaging
Transcript: ENSMUST00000209207
AA Change: S117N

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.5147 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.7%
Validation Efficiency 97% (65/67)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat3 A G 17: 13,143,695 (GRCm39) I349T possibly damaging Het
Add3 A G 19: 53,230,981 (GRCm39) N552S probably benign Het
Ak3 G T 19: 29,000,261 (GRCm39) P217T possibly damaging Het
Aox1 A T 1: 58,378,751 (GRCm39) D1000V probably benign Het
Ap1m2 A G 9: 21,216,982 (GRCm39) M118T probably damaging Het
Arhgap28 C A 17: 68,208,304 (GRCm39) A105S probably benign Het
Arhgef28 T C 13: 98,073,332 (GRCm39) E1368G probably damaging Het
Armc7 G A 11: 115,379,583 (GRCm39) V94I probably benign Het
Asxl1 C A 2: 153,235,374 (GRCm39) T223N possibly damaging Het
Btbd8 T C 5: 107,599,865 (GRCm39) S119P probably damaging Het
Cltc T C 11: 86,597,907 (GRCm39) K1078E probably damaging Het
Cpne8 G A 15: 90,469,118 (GRCm39) T158I probably benign Het
Csn1s2b T C 5: 87,964,529 (GRCm39) probably benign Het
Cyp3a59 A G 5: 146,041,568 (GRCm39) I371V probably benign Het
Dennd4c T C 4: 86,725,675 (GRCm39) F710L probably damaging Het
Diaph3 T C 14: 87,310,773 (GRCm39) D126G probably damaging Het
Dnm3 G A 1: 162,141,153 (GRCm39) R369C probably damaging Het
Dst A C 1: 34,199,790 (GRCm39) Q86P probably damaging Het
Ern2 C A 7: 121,773,042 (GRCm39) probably null Het
Ern2 T A 7: 121,773,043 (GRCm39) probably null Het
Exoc6 T A 19: 37,628,217 (GRCm39) probably null Het
Glg1 G A 8: 111,924,305 (GRCm39) R228C probably damaging Het
Gm4736 G A 6: 132,092,633 (GRCm39) noncoding transcript Het
Hmcn2 G C 2: 31,347,997 (GRCm39) G4881A probably benign Het
Htr2a T G 14: 74,943,593 (GRCm39) F391C probably damaging Het
Htr5b A T 1: 121,455,647 (GRCm39) V91E probably damaging Het
Ifi44 T A 3: 151,454,922 (GRCm39) H101L probably benign Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Klhl6 T A 16: 19,765,778 (GRCm39) H608L probably benign Het
Lrp4 T C 2: 91,322,966 (GRCm39) V1150A probably damaging Het
Lyst T C 13: 13,932,007 (GRCm39) F3545S probably benign Het
Magi3 T C 3: 103,941,489 (GRCm39) D822G possibly damaging Het
Nbas G A 12: 13,385,899 (GRCm39) S721N probably benign Het
Nog T A 11: 89,192,408 (GRCm39) M147L probably benign Het
Npr1 C T 3: 90,365,976 (GRCm39) C605Y possibly damaging Het
Or7e173 A C 9: 19,938,613 (GRCm39) V207G probably benign Het
Or8k21 G A 2: 86,145,211 (GRCm39) L140F probably benign Het
Pgs1 A G 11: 117,892,457 (GRCm39) S10G probably benign Het
Pla2g4c T C 7: 13,071,655 (GRCm39) probably benign Het
Prdm14 C T 1: 13,192,627 (GRCm39) V371I possibly damaging Het
Prom1 C T 5: 44,164,373 (GRCm39) V703I probably benign Het
Ptprk A G 10: 28,230,688 (GRCm39) T260A possibly damaging Het
Scnn1g A T 7: 121,359,686 (GRCm39) I390F probably damaging Het
Scrt2 C T 2: 151,935,638 (GRCm39) H264Y probably damaging Het
Sel1l3 C T 5: 53,302,887 (GRCm39) E661K possibly damaging Het
Skic2 G T 17: 35,066,782 (GRCm39) P162H probably benign Het
Slc10a5 G T 3: 10,400,451 (GRCm39) Q70K probably benign Het
Smg8 A G 11: 86,976,129 (GRCm39) V484A possibly damaging Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Stag1 T A 9: 100,770,353 (GRCm39) S630T probably benign Het
Thyn1 A C 9: 26,916,509 (GRCm39) Q98P probably damaging Het
Ttc7 A G 17: 87,614,443 (GRCm39) R203G possibly damaging Het
Ttn T C 2: 76,708,860 (GRCm39) probably benign Het
Vmn1r236 C T 17: 21,507,179 (GRCm39) S99L probably benign Het
Vmn2r50 T A 7: 9,781,605 (GRCm39) H380L probably benign Het
Vmn2r73 A T 7: 85,507,375 (GRCm39) C646S probably damaging Het
Wnt10b A G 15: 98,672,214 (GRCm39) S168P probably benign Het
Zc3h7a A G 16: 10,963,117 (GRCm39) M748T possibly damaging Het
Zfp804b C G 5: 6,820,217 (GRCm39) E913Q probably benign Het
Zfp974 G T 7: 27,610,506 (GRCm39) F406L possibly damaging Het
Zic4 G A 9: 91,266,199 (GRCm39) C274Y probably damaging Het
Other mutations in 1700029H14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02881:1700029H14Rik APN 8 13,605,999 (GRCm39) splice site probably benign
IGL03069:1700029H14Rik APN 8 13,607,704 (GRCm39) critical splice acceptor site probably null
R0242:1700029H14Rik UTSW 8 13,601,676 (GRCm39) missense probably benign
R0242:1700029H14Rik UTSW 8 13,601,676 (GRCm39) missense probably benign
R0243:1700029H14Rik UTSW 8 13,604,715 (GRCm39) missense possibly damaging 0.46
R0419:1700029H14Rik UTSW 8 13,601,842 (GRCm39) splice site probably benign
R1758:1700029H14Rik UTSW 8 13,612,237 (GRCm39) missense possibly damaging 0.66
R3890:1700029H14Rik UTSW 8 13,604,700 (GRCm39) missense probably damaging 0.97
R5004:1700029H14Rik UTSW 8 13,605,927 (GRCm39) missense possibly damaging 0.81
R8067:1700029H14Rik UTSW 8 13,608,643 (GRCm39) missense possibly damaging 0.78
R9412:1700029H14Rik UTSW 8 13,604,695 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- AAGCCTACAGTGTGCTCATAGCCC -3'
(R):5'- GAAGACAGCAAGTGACTCCTGTCC -3'

Sequencing Primer
(F):5'- AAGTAAGCAGCTCTTGCCTG -3'
(R):5'- AAGTGACTCCTGTCCTGACAC -3'
Posted On 2014-05-23