Incidental Mutation 'R5735:0610007P14Rik'
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ID451669
Institutional Source Beutler Lab
Gene Symbol 0610007P14Rik
Ensembl Gene ENSMUSG00000021252
Gene NameRIKEN cDNA 0610007P14 gene
SynonymsORF11
Accession Numbers
Stock #R5735 (G1)
Quality Score225
Status Not validated
Chromosome12
Chromosomal Location85815448-85824550 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 85816152 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 129 (E129K)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021676] [ENSMUST00000131681]
Predicted Effect probably benign
Transcript: ENSMUST00000021676
AA Change: E129K

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000021676
Gene: ENSMUSG00000021252
AA Change: E129K

DomainStartEndE-ValueType
Pfam:Erg28 6 115 5.9e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131681
AA Change: R68K
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210404O09Rik C T 17: 21,882,029 C29Y probably benign Het
2510002D24Rik T A 16: 18,836,567 probably null Het
2700081O15Rik A G 19: 7,422,796 E209G probably benign Het
4930430A15Rik A T 2: 111,225,492 L183* probably null Het
9130019O22Rik G T 7: 127,385,407 H174Q possibly damaging Het
Adamts16 C A 13: 70,836,218 D109Y possibly damaging Het
Armc8 T A 9: 99,497,394 probably null Het
Atg4b G T 1: 93,773,797 G74V probably damaging Het
Atp10b A T 11: 43,151,774 M54L probably benign Het
B230206H07Rik A G 7: 141,360,377 T507A probably damaging Het
Baiap2l1 A G 5: 144,286,302 L75P probably damaging Het
Bnc2 A C 4: 84,292,671 L512R probably damaging Het
C330027C09Rik T A 16: 49,017,493 probably null Het
Cacng7 T C 7: 3,339,023 S141P probably benign Het
Ccdc42b T A 5: 120,632,606 Q33L probably benign Het
Cenpf T C 1: 189,654,363 I1907V probably benign Het
Cep192 T C 18: 67,880,795 V2422A probably benign Het
Cmtm2a A T 8: 104,292,786 I57N probably damaging Het
Dnah2 A G 11: 69,430,817 V3839A possibly damaging Het
Enpp1 A T 10: 24,654,919 F546L possibly damaging Het
Erlec1 A T 11: 30,950,591 N153K probably benign Het
Fat4 C T 3: 38,949,576 R1815C probably damaging Het
Galnt1 T G 18: 24,264,520 I226S possibly damaging Het
Grik2 A G 10: 49,132,695 C890R noncoding transcript Het
Hadha A G 5: 30,147,458 Y696H noncoding transcript Het
Itfg3 T C 17: 26,213,705 E490G probably damaging Het
Itih5 A G 2: 10,240,761 N554D probably benign Het
Kcna10 A G 3: 107,195,078 I342V probably benign Het
Kif6 G A 17: 49,832,182 E561K probably damaging Het
Kl A G 5: 150,991,538 N910S possibly damaging Het
Lpar2 G T 8: 69,823,735 R58L probably damaging Het
Macrod2 A G 2: 140,418,889 T27A possibly damaging Het
Mfsd2a A T 4: 122,949,327 V387D probably damaging Het
Npas3 A T 12: 54,003,479 T259S probably benign Het
Nr5a2 C T 1: 136,940,445 V47M noncoding transcript Het
Olfr1100 A G 2: 86,978,700 V32A probably benign Het
Olfr1107 A T 2: 87,071,412 C241S probably damaging Het
Olfr1242 A T 2: 89,493,468 N281K probably damaging Het
Olfr669 A T 7: 104,938,759 T78S probably benign Het
Otx1 C A 11: 21,997,037 A91S probably damaging Het
Pde10a A T 17: 8,941,192 I144F possibly damaging Het
Phka2 ACC AC X: 160,559,866 probably null Homo
Pomt1 G A 2: 32,243,505 G218R probably damaging Het
Ppp1r1c T C 2: 79,709,949 I80T noncoding transcript Het
Prdm5 C T 6: 65,927,990 T157I possibly damaging Het
Psen2 T A 1: 180,240,926 E54V probably benign Het
Ptpn13 C A 5: 103,554,820 H1217Q probably benign Het
Ptprt A G 2: 161,534,564 S1306P probably damaging Het
Ptpru G T 4: 131,838,090 P23T probably benign Het
Rtn3 T C 19: 7,456,692 E626G probably damaging Het
Scn3a A T 2: 65,482,278 M1191K probably damaging Het
Scn3a T A 2: 65,484,459 N1086I probably benign Het
Sgms2 A T 3: 131,336,217 M174K probably damaging Het
Skor1 T A 9: 63,146,064 I208F probably damaging Het
Slit2 T G 5: 48,259,616 C1003W probably damaging Het
Tbc1d2b T A 9: 90,222,409 Q560L possibly damaging Het
Tcrg-V5 T G 13: 19,192,525 H31Q probably null Het
Themis A G 10: 28,722,534 I51V probably benign Het
Tmem203 T C 2: 25,256,073 V135A probably benign Het
Tns1 T C 1: 73,927,979 T1220A probably benign Het
Trim2 G A 3: 84,167,722 A697V probably damaging Het
Ubxn4 T C 1: 128,258,940 S37P possibly damaging Het
Vmn2r17 A G 5: 109,452,850 I671M possibly damaging Het
Vmn2r94 G T 17: 18,243,804 S741R probably damaging Het
Vwce C A 19: 10,647,067 D414E probably benign Het
Zfp397 T C 18: 23,960,192 S245P possibly damaging Het
Zfp809 T A 9: 22,238,931 Y241* probably null Het
Zfyve26 T C 12: 79,273,373 D1066G probably damaging Het
Other mutations in 0610007P14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1891:0610007P14Rik UTSW 12 85816188 missense probably benign 0.16
R2304:0610007P14Rik UTSW 12 85816163 missense probably damaging 0.98
R5427:0610007P14Rik UTSW 12 85819567 missense probably damaging 1.00
R5778:0610007P14Rik UTSW 12 85819480 missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- CTCGAAAGCTTAAGATGCTGAACC -3'
(R):5'- CAGAGTTGTTTGTATTTGGAACAGC -3'

Sequencing Primer
(F):5'- GCTTAAGATGCTGAACCTAGATG -3'
(R):5'- GTATTTGGAACAGCAGCTCCC -3'
Posted OnJan 03, 2017