Incidental Mutation 'R6945:5430403G16Rik'
ID540835
Institutional Source Beutler Lab
Gene Symbol 5430403G16Rik
Ensembl Gene ENSMUSG00000072763
Gene NameRIKEN cDNA 5430403G16 gene
SynonymsENSMUSG00000072763
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #R6945 (G1)
Quality Score225.009
Status Validated
Chromosome5
Chromosomal Location109674545-109691041 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 109676845 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 246 (N246K)
Ref Sequence ENSEMBL: ENSMUSP00000090395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092720]
Predicted Effect probably benign
Transcript: ENSMUST00000092720
AA Change: N246K

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000090395
Gene: ENSMUSG00000072763
AA Change: N246K

DomainStartEndE-ValueType
KRAB 4 60 2.47e-14 SMART
ZnF_C2H2 131 153 3.39e-3 SMART
ZnF_C2H2 159 181 3.95e-4 SMART
ZnF_C2H2 187 209 3.95e-4 SMART
ZnF_C2H2 215 237 1.12e-3 SMART
ZnF_C2H2 243 265 4.01e-5 SMART
ZnF_C2H2 271 293 7.78e-3 SMART
ZnF_C2H2 299 321 2.61e-4 SMART
ZnF_C2H2 327 349 1.36e-2 SMART
ZnF_C2H2 355 377 7.37e-4 SMART
ZnF_C2H2 383 405 1.3e-4 SMART
ZnF_C2H2 411 433 3.69e-4 SMART
ZnF_C2H2 439 461 4.3e-5 SMART
ZnF_C2H2 467 489 2.57e-3 SMART
ZnF_C2H2 495 517 2.61e-4 SMART
ZnF_C2H2 523 545 2.05e-2 SMART
ZnF_C2H2 551 573 5.59e-4 SMART
ZnF_C2H2 579 601 1.58e-3 SMART
ZnF_C2H2 607 629 9.08e-4 SMART
ZnF_C2H2 635 657 3.44e-4 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 96% (51/53)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA792892 C T 5: 94,383,631 H125Y possibly damaging Het
Abcc5 T A 16: 20,400,009 T208S probably benign Het
Acaa2 A G 18: 74,793,309 E112G probably benign Het
Adgrb1 A G 15: 74,550,024 N881S probably damaging Het
Adgre1 A G 17: 57,410,844 E314G probably benign Het
Adgre1 A G 17: 57,420,399 E443G probably benign Het
Akp3 A G 1: 87,125,631 Y102C probably damaging Het
Birc6 A G 17: 74,579,531 N618S probably benign Het
Bpifc A G 10: 85,979,214 V296A probably benign Het
Cacna2d3 G A 14: 28,969,318 probably benign Het
Cacnb4 T C 2: 52,474,954 N99S probably damaging Het
Cd38 A G 5: 43,908,006 Y283C probably damaging Het
Celf4 T A 18: 25,496,236 Q411L probably damaging Het
Cemip A T 7: 83,998,547 H108Q probably damaging Het
Col23a1 A G 11: 51,561,893 E225G unknown Het
Dnah11 T C 12: 118,060,310 E1902G probably damaging Het
Dst A G 1: 34,190,490 D2063G probably damaging Het
Fsip2 A T 2: 82,992,840 I6306L probably benign Het
Furin A G 7: 80,391,090 S667P possibly damaging Het
Glmp T A 3: 88,325,832 S92R probably benign Het
Gm11563 C G 11: 99,658,472 C152S unknown Het
Gm3486 A G 14: 41,484,561 V185A probably benign Het
Gm4070 G A 7: 105,901,980 Q622* probably null Het
Hyal1 C A 9: 107,579,170 A102E probably damaging Het
Invs T C 4: 48,421,785 C806R probably benign Het
L1td1 T C 4: 98,733,696 V165A probably benign Het
Lama1 A G 17: 67,813,866 T2666A Het
Lrit1 G C 14: 37,060,095 V242L probably damaging Het
Lrrc8a A G 2: 30,256,227 Y351C probably damaging Het
Myh7b T C 2: 155,622,232 F551S possibly damaging Het
Myo19 A G 11: 84,897,560 T333A probably benign Het
Nrp2 A T 1: 62,760,788 N387I probably damaging Het
Oas2 T C 5: 120,736,139 D543G probably benign Het
Olfr1040 A G 2: 86,146,084 S217P probably damaging Het
Olfr117 A G 17: 37,659,514 I273T possibly damaging Het
Pak7 A G 2: 136,100,939 V427A probably benign Het
Pfas G A 11: 69,000,530 A247V probably benign Het
Psat1 T A 19: 15,917,181 T115S probably benign Het
Psme4 T A 11: 30,837,437 D1077E probably benign Het
Rabgap1l A G 1: 160,682,182 S442P probably benign Het
Ralgapa1 A G 12: 55,776,191 M280T possibly damaging Het
Rb1cc1 A T 1: 6,261,032 E394D probably damaging Het
Seh1l T C 18: 67,789,390 V271A probably benign Het
Sf3b1 A T 1: 54,997,156 N919K probably benign Het
Sftpd A G 14: 41,174,492 S245P possibly damaging Het
Slc22a15 T C 3: 101,924,114 E2G probably damaging Het
Spta1 A G 1: 174,209,325 D1134G possibly damaging Het
Syna A G 5: 134,558,961 V378A probably damaging Het
Tchp A G 5: 114,709,350 K77E possibly damaging Het
Tescl T C 7: 24,333,531 N123S probably benign Het
Trio C T 15: 27,824,090 R1443Q probably damaging Het
Trrap A T 5: 144,790,855 Y462F possibly damaging Het
Vmn1r78 A G 7: 12,152,905 T148A probably benign Het
Vmn2r111 T C 17: 22,559,051 N549S possibly damaging Het
Other mutations in 5430403G16Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01653:5430403G16Rik APN 5 109677316 nonsense probably null
IGL02547:5430403G16Rik APN 5 109678762 critical splice donor site probably null
IGL02589:5430403G16Rik APN 5 109678520 missense possibly damaging 0.95
BB007:5430403G16Rik UTSW 5 109675756 nonsense probably null
BB017:5430403G16Rik UTSW 5 109675756 nonsense probably null
R0363:5430403G16Rik UTSW 5 109676888 missense probably benign 0.03
R0628:5430403G16Rik UTSW 5 109678576 critical splice acceptor site probably null
R2858:5430403G16Rik UTSW 5 109675953 missense probably benign 0.02
R4914:5430403G16Rik UTSW 5 109678530 missense probably damaging 1.00
R4945:5430403G16Rik UTSW 5 109677075 missense possibly damaging 0.60
R5444:5430403G16Rik UTSW 5 109675636 nonsense probably null
R6000:5430403G16Rik UTSW 5 109676864 missense probably benign 0.19
R6258:5430403G16Rik UTSW 5 109676567 missense probably benign 0.01
R6389:5430403G16Rik UTSW 5 109676019 missense possibly damaging 0.84
R7225:5430403G16Rik UTSW 5 109677149 missense possibly damaging 0.69
R7581:5430403G16Rik UTSW 5 109690788 start gained probably benign
R7810:5430403G16Rik UTSW 5 109677304 nonsense probably null
R7930:5430403G16Rik UTSW 5 109675756 nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGGCTTTGTCACATTGATCACATT -3'
(R):5'- ATGGTGAAGCCTTTGTACATCACA -3'

Sequencing Primer
(F):5'- GTCACATTGATCACATTCATAGGG -3'
(R):5'- TGGTAAAGCCTTTACAGGACACAGTC -3'
Posted On2018-11-28