Incidental Mutation 'R9412:1700029H14Rik'
ID 711852
Institutional Source Beutler Lab
Gene Symbol 1700029H14Rik
Ensembl Gene ENSMUSG00000031452
Gene Name RIKEN cDNA 1700029H14 gene
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9412 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 13600733-13612461 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 13604695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 203 (T203S)
Ref Sequence ENSEMBL: ENSMUSP00000118793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033830] [ENSMUST00000134023] [ENSMUST00000151400] [ENSMUST00000187391] [ENSMUST00000209207]
AlphaFold E9PY36
Predicted Effect possibly damaging
Transcript: ENSMUST00000033830
AA Change: T203S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000134023
AA Change: T203S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000151400
AA Change: T203S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000187391
AA Change: T203S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000209207
AA Change: T203S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G A 12: 71,235,457 (GRCm39) E1136K possibly damaging Het
Abca6 C A 11: 110,103,059 (GRCm39) R844L probably damaging Het
Abcb9 C T 5: 124,221,753 (GRCm39) R207Q probably benign Het
Abcd4 T C 12: 84,655,581 (GRCm39) R343G probably damaging Het
Arhgap45 T A 10: 79,855,564 (GRCm39) M1K probably null Het
Art3 A G 5: 92,541,013 (GRCm39) Y252C probably damaging Het
Ascc3 T C 10: 50,525,230 (GRCm39) M475T probably benign Het
Atxn2 C T 5: 121,940,201 (GRCm39) P992L possibly damaging Het
Dclk3 G A 9: 111,311,819 (GRCm39) probably null Het
Ddx21 T C 10: 62,429,881 (GRCm39) T288A possibly damaging Het
Fat3 T C 9: 15,908,703 (GRCm39) D2433G probably damaging Het
Flnc G A 6: 29,441,484 (GRCm39) R422Q probably benign Het
Fmnl2 G T 2: 53,007,016 (GRCm39) R776L unknown Het
Fndc1 T A 17: 7,991,198 (GRCm39) T833S unknown Het
Igf1r T A 7: 67,857,001 (GRCm39) Y988N probably damaging Het
Ints2 T C 11: 86,117,589 (GRCm39) Y711C probably damaging Het
Irx5 A G 8: 93,086,351 (GRCm39) K145E probably damaging Het
Kdm5a A G 6: 120,365,991 (GRCm39) Y377C probably damaging Het
Lrp1 T A 10: 127,409,287 (GRCm39) T1611S probably damaging Het
Lrrc28 T A 7: 67,181,512 (GRCm39) E241V probably damaging Het
Med23 T C 10: 24,778,019 (GRCm39) F789S probably damaging Het
Ncapd3 C T 9: 26,967,451 (GRCm39) Q596* probably null Het
Nrde2 C A 12: 100,096,681 (GRCm39) E1040* probably null Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Pcdh15 CAGAGA CAGA 10: 74,481,663 (GRCm39) probably null Het
Pcm1 T G 8: 41,740,788 (GRCm39) N972K probably damaging Het
Peg10 C CTCT 6: 4,756,453 (GRCm39) probably benign Het
Pla2g4a T C 1: 149,755,772 (GRCm39) T222A probably damaging Het
Ptchd3 A T 11: 121,732,779 (GRCm39) K556N possibly damaging Het
Relch A G 1: 105,662,288 (GRCm39) T936A probably benign Het
Scap T C 9: 110,207,673 (GRCm39) C461R possibly damaging Het
Scgb1b10 T A 7: 31,800,627 (GRCm39) L72* probably null Het
Serpinb6c C A 13: 34,081,371 (GRCm39) A93S probably benign Het
Serpinb9c C A 13: 33,334,231 (GRCm39) L298F probably damaging Het
Slf2 A T 19: 44,930,460 (GRCm39) E512D probably benign Het
Snapc3 C T 4: 83,354,570 (GRCm39) H194Y probably benign Het
Suox T A 10: 128,507,758 (GRCm39) D90V possibly damaging Het
Supt20 TCAGCAGCAGCAGCAGCAGCAGCA TCAGCAGCAGCAGCAGCAGCA 3: 54,635,069 (GRCm39) probably benign Het
Tert C T 13: 73,797,046 (GRCm39) R1095W probably benign Het
Tut4 A T 4: 108,414,561 (GRCm39) H46L Het
Unc13c T C 9: 73,839,772 (GRCm39) I360V probably benign Het
Uqcc1 A G 2: 155,693,329 (GRCm39) C235R probably benign Het
Vmn2r9 T A 5: 108,991,484 (GRCm39) I626F probably damaging Het
Vmn2r90 T G 17: 17,954,213 (GRCm39) C792W probably damaging Het
Zfp57 C T 17: 37,320,814 (GRCm39) P223S probably benign Het
Zfp787 T C 7: 6,135,946 (GRCm39) T102A 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
R1747:1700029H14Rik UTSW 8 13,608,814 (GRCm39) missense probably damaging 0.96
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
Predicted Primers PCR Primer
(F):5'- TGCTTCATGGCATCACTGG -3'
(R):5'- TGGCGCATAAACATCATGTCC -3'

Sequencing Primer
(F):5'- GGCATCACTGGCCTTCC -3'
(R):5'- GCATAAACATCATGTCCCTGGG -3'
Posted On 2022-05-16