Incidental Mutation 'R7269:A430033K04Rik'
ID 565141
Institutional Source Beutler Lab
Gene Symbol A430033K04Rik
Ensembl Gene ENSMUSG00000056014
Gene Name RIKEN cDNA A430033K04 gene
Synonyms
MMRRC Submission 045320-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R7269 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 138621121-138647179 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 138645014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 300 (Y300N)
Ref Sequence ENSEMBL: ENSMUSP00000067316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069862] [ENSMUST00000198958]
AlphaFold E9Q8G5
Predicted Effect possibly damaging
Transcript: ENSMUST00000069862
AA Change: Y300N

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000067316
Gene: ENSMUSG00000056014
AA Change: Y300N

DomainStartEndE-ValueType
KRAB 16 76 6.23e-34 SMART
ZnF_C2H2 261 280 1.01e2 SMART
ZnF_C2H2 455 477 1.47e-3 SMART
ZnF_C2H2 483 505 4.05e-1 SMART
ZnF_C2H2 511 533 5.5e-3 SMART
ZnF_C2H2 539 561 7.26e-3 SMART
ZnF_C2H2 567 589 5.14e-3 SMART
ZnF_C2H2 595 617 3.63e-3 SMART
ZnF_C2H2 623 645 1.92e-2 SMART
ZnF_C2H2 651 673 2.12e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198958
AA Change: Y300N

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000142904
Gene: ENSMUSG00000056014
AA Change: Y300N

DomainStartEndE-ValueType
KRAB 16 76 2.7e-36 SMART
ZnF_C2H2 261 280 4.2e-1 SMART
ZnF_C2H2 455 477 6.4e-6 SMART
ZnF_C2H2 483 505 1.8e-3 SMART
ZnF_C2H2 511 533 2.3e-5 SMART
ZnF_C2H2 539 561 3e-5 SMART
ZnF_C2H2 567 589 2.1e-5 SMART
ZnF_C2H2 595 617 1.5e-5 SMART
ZnF_C2H2 623 643 2.7e-1 SMART
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (85/87)
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A T 18: 24,606,013 (GRCm39) N36I probably damaging Het
Adipor2 T C 6: 119,347,205 (GRCm39) Q26R probably benign Het
Ahnak T A 19: 8,983,981 (GRCm39) M1755K probably damaging Het
Ahnak2 A T 12: 112,780,802 (GRCm38) V70E Het
AI837181 C A 19: 5,476,462 (GRCm39) S208R probably damaging Het
Arhgap35 T G 7: 16,295,652 (GRCm39) M1138L probably benign Het
Card14 T G 11: 119,228,573 (GRCm39) L633R probably damaging Het
Carmil3 A G 14: 55,731,352 (GRCm39) T144A probably benign Het
Cbfa2t2 T A 2: 154,357,895 (GRCm39) N223K probably benign Het
Ccdc39 T C 3: 33,884,254 (GRCm39) I363V probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Ccpg1 G T 9: 72,920,609 (GRCm39) R741S probably benign Het
Cenpc1 A G 5: 86,161,366 (GRCm39) F855L probably damaging Het
Cenpc1 A T 5: 86,180,277 (GRCm39) M665K probably benign Het
Cp A G 3: 20,037,641 (GRCm39) H832R probably damaging Het
Defa24 A G 8: 22,224,565 (GRCm39) I5V probably benign Het
Dlc1 A C 8: 37,046,407 (GRCm39) L730R probably damaging Het
Dmbt1 A T 7: 130,668,351 (GRCm39) I536F unknown Het
Dscam G A 16: 96,479,601 (GRCm39) T1182I probably benign Het
Eea1 A T 10: 95,854,000 (GRCm39) I553F probably damaging Het
Far1 T C 7: 113,160,654 (GRCm39) V400A probably benign Het
Fbrsl1 A T 5: 110,580,880 (GRCm39) S126T probably benign Het
Frmpd2 A T 14: 33,244,838 (GRCm39) E552V possibly damaging Het
Gm5431 T A 11: 48,779,237 (GRCm39) T562S probably benign Het
Gm5475 T C 15: 100,324,890 (GRCm39) F106S unknown Het
Gpr12 T C 5: 146,520,188 (GRCm39) T245A probably damaging Het
Gsta2 A G 9: 78,239,419 (GRCm39) Y166H probably benign Het
H6pd A G 4: 150,067,369 (GRCm39) V347A probably benign Het
Ifih1 T C 2: 62,475,977 (GRCm39) T100A probably benign Het
Ift70b A G 2: 75,767,838 (GRCm39) F305S probably damaging Het
Itga2 C T 13: 115,023,225 (GRCm39) W59* probably null Het
Knstrn T A 2: 118,661,869 (GRCm39) probably null Het
Kprp A G 3: 92,731,178 (GRCm39) V624A probably damaging Het
Lmbrd2 A G 15: 9,194,771 (GRCm39) Y591C probably damaging Het
Map7d1 A G 4: 126,126,666 (GRCm39) V842A unknown Het
Mboat2 A T 12: 24,881,708 (GRCm39) T4S probably benign Het
Mcph1 T A 8: 18,657,288 (GRCm39) probably null Het
Mrtfb A T 16: 13,218,898 (GRCm39) M515L possibly damaging Het
Muc5b A G 7: 141,411,272 (GRCm39) D1406G unknown Het
Mylk G A 16: 34,605,381 (GRCm39) G3D probably damaging Het
Ndst4 A G 3: 125,232,007 (GRCm39) D192G probably damaging Het
Nemp1 G T 10: 127,531,345 (GRCm39) R361L probably damaging Het
Nol4 A C 18: 23,172,846 (GRCm39) V85G probably benign Het
Nrbf2 G A 10: 67,103,605 (GRCm39) T166M probably damaging Het
Obscn T C 11: 58,933,838 (GRCm39) E5342G probably damaging Het
Or10al7 C A 17: 38,366,442 (GRCm39) C5F probably damaging Het
Or4f47 T A 2: 111,972,905 (GRCm39) F205Y probably damaging Het
Or4p19 C T 2: 88,242,839 (GRCm39) M54I possibly damaging Het
Or51d1 T G 7: 102,348,252 (GRCm39) L269R probably damaging Het
Or7d10 A G 9: 19,831,631 (GRCm39) N42S possibly damaging Het
Pakap G T 4: 57,855,217 (GRCm39) R182L probably damaging Het
Pde4dip A G 3: 97,674,275 (GRCm39) S214P probably damaging Het
Per3 A T 4: 151,116,393 (GRCm39) C278* probably null Het
Pi4k2a T C 19: 42,079,125 (GRCm39) L62P probably damaging Het
Plekha7 C A 7: 115,780,447 (GRCm39) G126W probably damaging Het
Ppp1r13b T C 12: 111,801,353 (GRCm39) K567E probably damaging Het
Pradc1 T A 6: 85,424,548 (GRCm39) Q134L probably benign Het
Pwp2 A G 10: 78,012,170 (GRCm39) F628L probably benign Het
Rab5c C T 11: 100,606,928 (GRCm39) G217D probably benign Het
Rad51ap2 G T 12: 11,506,807 (GRCm39) S243I possibly damaging Het
Rasgrp4 C A 7: 28,847,855 (GRCm39) R432S probably damaging Het
Rhot2 C T 17: 26,061,402 (GRCm39) probably null Het
Scn2a T A 2: 65,594,113 (GRCm39) L1654Q probably damaging Het
Skint6 A T 4: 112,711,686 (GRCm39) probably null Het
Slc22a28 T A 19: 8,094,491 (GRCm39) T177S probably benign Het
Slc25a24 G T 3: 109,065,960 (GRCm39) Q272H probably null Het
Slc3a1 A T 17: 85,339,873 (GRCm39) I144F probably damaging Het
Smg9 C T 7: 24,105,495 (GRCm39) R176C possibly damaging Het
Sorl1 A T 9: 41,948,499 (GRCm39) L762Q probably damaging Het
Srebf2 C A 15: 82,088,270 (GRCm39) P1079T probably benign Het
Sub1 A T 15: 11,993,937 (GRCm39) S4T probably benign Het
Tacr1 A T 6: 82,469,692 (GRCm39) Y192F probably benign Het
Tm4sf19 A T 16: 32,224,814 (GRCm39) H54L probably damaging Het
Tnxb T C 17: 34,914,428 (GRCm39) L1838P probably damaging Het
Trmt1l T C 1: 151,333,539 (GRCm39) S681P possibly damaging Het
Ttn A G 2: 76,738,176 (GRCm39) V4167A unknown Het
Unc13d T A 11: 115,959,056 (GRCm39) M702L probably benign Het
Vgll3 A G 16: 65,636,404 (GRCm39) H240R probably benign Het
Vmn1r189 C G 13: 22,286,737 (GRCm39) W33C probably benign Het
Vmn2r17 G A 5: 109,576,337 (GRCm39) A403T possibly damaging Het
Vmn2r2 G A 3: 64,033,998 (GRCm39) T508I probably benign Het
Vps54 T A 11: 21,227,670 (GRCm39) probably null Het
Wfs1 G A 5: 37,125,134 (GRCm39) Q586* probably null Het
Zbp1 A T 2: 173,055,665 (GRCm39) H166Q unknown Het
Zcchc3 G A 2: 152,256,294 (GRCm39) A135V probably benign Het
Zfp51 T C 17: 21,683,960 (GRCm39) Y192H probably benign Het
Zkscan2 T C 7: 123,088,994 (GRCm39) T426A probably benign Het
Other mutations in A430033K04Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:A430033K04Rik APN 5 138,645,854 (GRCm39) missense probably damaging 1.00
IGL00336:A430033K04Rik APN 5 138,645,366 (GRCm39) missense probably damaging 0.99
IGL02615:A430033K04Rik APN 5 138,644,402 (GRCm39) nonsense probably null
IGL03354:A430033K04Rik APN 5 138,645,041 (GRCm39) missense possibly damaging 0.85
R0172:A430033K04Rik UTSW 5 138,645,578 (GRCm39) missense probably damaging 0.99
R1769:A430033K04Rik UTSW 5 138,644,519 (GRCm39) missense probably benign 0.04
R4515:A430033K04Rik UTSW 5 138,646,006 (GRCm39) missense probably damaging 1.00
R4903:A430033K04Rik UTSW 5 138,645,119 (GRCm39) nonsense probably null
R4964:A430033K04Rik UTSW 5 138,645,119 (GRCm39) nonsense probably null
R5389:A430033K04Rik UTSW 5 138,644,559 (GRCm39) missense probably benign 0.02
R5769:A430033K04Rik UTSW 5 138,644,595 (GRCm39) missense possibly damaging 0.86
R6128:A430033K04Rik UTSW 5 138,646,038 (GRCm39) missense probably damaging 1.00
R6399:A430033K04Rik UTSW 5 138,645,821 (GRCm39) missense probably damaging 1.00
R6444:A430033K04Rik UTSW 5 138,637,831 (GRCm39) small deletion probably benign
R6600:A430033K04Rik UTSW 5 138,645,710 (GRCm39) frame shift probably null
R6774:A430033K04Rik UTSW 5 138,644,712 (GRCm39) missense probably benign
R7098:A430033K04Rik UTSW 5 138,644,784 (GRCm39) missense probably benign
R7217:A430033K04Rik UTSW 5 138,645,188 (GRCm39) missense probably benign
R7429:A430033K04Rik UTSW 5 138,634,445 (GRCm39) missense possibly damaging 0.92
R7442:A430033K04Rik UTSW 5 138,645,509 (GRCm39) missense possibly damaging 0.55
R7718:A430033K04Rik UTSW 5 138,646,122 (GRCm39) missense possibly damaging 0.73
R8007:A430033K04Rik UTSW 5 138,644,901 (GRCm39) missense probably benign 0.33
R8170:A430033K04Rik UTSW 5 138,645,315 (GRCm39) missense possibly damaging 0.72
R8348:A430033K04Rik UTSW 5 138,634,514 (GRCm39) missense probably damaging 1.00
R8496:A430033K04Rik UTSW 5 138,645,120 (GRCm39) missense probably benign 0.00
R8520:A430033K04Rik UTSW 5 138,644,968 (GRCm39) missense possibly damaging 0.72
R8778:A430033K04Rik UTSW 5 138,645,149 (GRCm39) missense possibly damaging 0.53
R8858:A430033K04Rik UTSW 5 138,638,338 (GRCm39) missense probably benign 0.01
R9147:A430033K04Rik UTSW 5 138,644,547 (GRCm39) missense possibly damaging 0.86
R9148:A430033K04Rik UTSW 5 138,644,547 (GRCm39) missense possibly damaging 0.86
R9418:A430033K04Rik UTSW 5 138,645,317 (GRCm39) missense probably damaging 1.00
R9645:A430033K04Rik UTSW 5 138,644,793 (GRCm39) missense probably benign 0.33
R9661:A430033K04Rik UTSW 5 138,645,451 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- GAGGTAACAATTCCTGCCCAATATATG -3'
(R):5'- ATGTTCCTTAGCCTGGCAGG -3'

Sequencing Primer
(F):5'- CCTGCCCAATATATGACTCAGTTAAG -3'
(R):5'- TGGCAGGCTCTCTCACAG -3'
Posted On 2019-06-26