Incidental Mutation 'R4694:Rad9a'
ID 355595
Institutional Source Beutler Lab
Gene Symbol Rad9a
Ensembl Gene ENSMUSG00000024824
Gene Name RAD9 checkpoint clamp component A
Synonyms Rad9
MMRRC Submission 041945-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4694 (G1)
Quality Score 204
Status Not validated
Chromosome 19
Chromosomal Location 4245195-4251661 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 4250560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 85 (R85C)
Ref Sequence ENSEMBL: ENSMUSP00000025740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025740]
AlphaFold Q9Z0F6
Predicted Effect probably damaging
Transcript: ENSMUST00000025740
AA Change: R85C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025740
Gene: ENSMUSG00000024824
AA Change: R85C

DomainStartEndE-ValueType
Pfam:Rad9 13 265 6.6e-101 PFAM
Meta Mutation Damage Score 0.3666 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is highly similar to Schizosaccharomyces pombe rad9, a cell cycle checkpoint protein required for cell cycle arrest and DNA damage repair. This protein possesses 3' to 5' exonuclease activity, which may contribute to its role in sensing and repairing DNA damage. It forms a checkpoint protein complex with RAD1 and HUS1. This complex is recruited by checkpoint protein RAD17 to the sites of DNA damage, which is thought to be important for triggering the checkpoint-signaling cascade. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Embryos homozygous for a knock-out allele are consistently smaller and display abnormal embryonic development and midgestational lethality associated with increased apoptosis and reduced cellular proliferation. Mutant mouse embryonic fibroblasts are not viable. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,979,586 (GRCm39) F258Y probably damaging Het
Adamtsl4 C T 3: 95,587,055 (GRCm39) R765H probably damaging Het
Bicd1 T A 6: 149,311,051 (GRCm39) L42Q probably damaging Het
Cacna1e C T 1: 154,313,012 (GRCm39) probably null Het
Capn1 T A 19: 6,044,761 (GRCm39) K504* probably null Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cep350 T C 1: 155,804,332 (GRCm39) K917R probably damaging Het
Cp A T 3: 20,029,049 (GRCm39) T509S probably benign Het
Cyp2d10 T C 15: 82,288,684 (GRCm39) D266G probably damaging Het
Dhodh C G 8: 110,333,048 (GRCm39) R7P probably damaging Het
Dmxl2 A G 9: 54,354,189 (GRCm39) L419P probably benign Het
Epb41l4b A T 4: 57,019,875 (GRCm39) M84K probably benign Het
Fbln7 A G 2: 128,722,345 (GRCm39) probably null Het
Fbxw11 C T 11: 32,592,820 (GRCm39) probably benign Het
Flnc C A 6: 29,443,447 (GRCm39) P543T probably damaging Het
Grid1 T C 14: 34,748,737 (GRCm39) S186P probably damaging Het
Hcfc2 C T 10: 82,559,534 (GRCm39) T382M probably damaging Het
Hdac9 G T 12: 34,487,246 (GRCm39) L73I probably damaging Het
Hnrnpa2b1 A T 6: 51,441,163 (GRCm39) D302E probably damaging Het
Ifi204 C T 1: 173,576,825 (GRCm39) C592Y probably damaging Het
Jph1 T A 1: 17,067,729 (GRCm39) I653F probably damaging Het
Kcnj3 A G 2: 55,484,918 (GRCm39) K339E probably benign Het
Kcp G A 6: 29,493,196 (GRCm39) T838I probably benign Het
Krtap26-1 A T 16: 88,444,108 (GRCm39) V171E possibly damaging Het
Lck G T 4: 129,442,765 (GRCm39) N452K possibly damaging Het
Madd A G 2: 90,990,673 (GRCm39) L1134S probably damaging Het
Mafk T C 5: 139,786,248 (GRCm39) S149P probably damaging Het
Man1c1 T C 4: 134,430,500 (GRCm39) D94G probably benign Het
Me2 T A 18: 73,934,930 (GRCm39) M38L probably benign Het
Muc2 A C 7: 141,306,082 (GRCm39) D257A probably damaging Het
Myh11 T C 16: 14,018,566 (GRCm39) K1927E probably damaging Het
Naaladl1 C T 19: 6,158,920 (GRCm39) P324S probably damaging Het
Ndufa10 T C 1: 92,379,824 (GRCm39) E303G probably benign Het
Nedd1 C T 10: 92,555,444 (GRCm39) V14I probably benign Het
Nwd1 T G 8: 73,393,958 (GRCm39) V407G probably damaging Het
Or2h15 A C 17: 38,441,748 (GRCm39) C112G probably damaging Het
Or4b1d T A 2: 89,968,593 (GRCm39) K297* probably null Het
Or4k15c T C 14: 50,321,476 (GRCm39) I221V probably benign Het
Or5w13 T A 2: 87,524,104 (GRCm39) T41S probably benign Het
Or7g29 A G 9: 19,286,694 (GRCm39) L161P probably damaging Het
Pgrmc2 T C 3: 41,024,840 (GRCm39) D144G probably damaging Het
Ppp3cb T C 14: 20,551,583 (GRCm39) N516S probably benign Het
Pramel27 T C 4: 143,579,530 (GRCm39) S372P probably damaging Het
Prelp A G 1: 133,842,485 (GRCm39) M220T probably damaging Het
Prss36 A G 7: 127,534,787 (GRCm39) W465R probably damaging Het
Pth2r C A 1: 65,375,920 (GRCm39) F59L probably benign Het
Rab20 C T 8: 11,504,485 (GRCm39) G72R probably damaging Het
Rab4a G T 8: 124,555,769 (GRCm39) G49W probably damaging Het
Rhox2c A C X: 36,635,351 (GRCm39) Q4H probably benign Het
Rock1 A T 18: 10,136,152 (GRCm39) Y178* probably null Het
Scaf8 C A 17: 3,247,679 (GRCm39) L1001I probably damaging Het
Sema3b G A 9: 107,482,201 (GRCm39) P26S probably benign Het
Slc23a1 A G 18: 35,752,633 (GRCm39) L548P probably damaging Het
Sncaip A C 18: 53,039,629 (GRCm39) T548P probably benign Het
Stpg2 C T 3: 139,023,177 (GRCm39) P398S possibly damaging Het
Stpg3 A C 2: 25,103,309 (GRCm39) V260G probably damaging Het
Tbc1d9 T A 8: 83,960,875 (GRCm39) F242I probably damaging Het
Tnks1bp1 G A 2: 84,902,066 (GRCm39) R992Q probably damaging Het
Tom1l1 T G 11: 90,537,675 (GRCm39) H394P possibly damaging Het
Topors T G 4: 40,261,442 (GRCm39) N614T possibly damaging Het
Trank1 A T 9: 111,221,129 (GRCm39) Q2622L probably benign Het
Trub2 A G 2: 29,668,858 (GRCm39) S186P probably damaging Het
Unc13c T A 9: 73,479,636 (GRCm39) H1756L probably benign Het
Vmn1r9 A T 6: 57,048,314 (GRCm39) I130F probably benign Het
Wdr72 A T 9: 74,086,837 (GRCm39) I602F probably damaging Het
Zfand3 T A 17: 30,354,362 (GRCm39) F60I possibly damaging Het
Zfp946 G A 17: 22,674,692 (GRCm39) G482E probably benign Het
Other mutations in Rad9a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01411:Rad9a APN 19 4,251,336 (GRCm39) missense probably benign 0.00
R0690:Rad9a UTSW 19 4,247,359 (GRCm39) splice site probably null
R1167:Rad9a UTSW 19 4,247,501 (GRCm39) missense possibly damaging 0.91
R1823:Rad9a UTSW 19 4,247,241 (GRCm39) missense probably damaging 1.00
R3725:Rad9a UTSW 19 4,247,694 (GRCm39) missense probably damaging 1.00
R4468:Rad9a UTSW 19 4,250,293 (GRCm39) missense probably benign 0.08
R4695:Rad9a UTSW 19 4,250,560 (GRCm39) missense probably damaging 1.00
R4742:Rad9a UTSW 19 4,250,560 (GRCm39) missense probably damaging 1.00
R4743:Rad9a UTSW 19 4,250,560 (GRCm39) missense probably damaging 1.00
R4765:Rad9a UTSW 19 4,250,488 (GRCm39) missense probably benign 0.28
R4824:Rad9a UTSW 19 4,250,536 (GRCm39) missense probably benign
R4902:Rad9a UTSW 19 4,251,552 (GRCm39) start gained probably benign
R5037:Rad9a UTSW 19 4,247,173 (GRCm39) missense probably benign 0.00
R5346:Rad9a UTSW 19 4,251,517 (GRCm39) splice site probably null
R7532:Rad9a UTSW 19 4,251,522 (GRCm39) start gained probably benign
R9490:Rad9a UTSW 19 4,247,547 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAATGGTCTCAGGGCTTGGC -3'
(R):5'- GCTATCTAAGATCTGTGGAGAGGG -3'

Sequencing Primer
(F):5'- TCTCAGGGCTTGGCAACCTC -3'
(R):5'- AAAAGGTTAGTGGCCCTTCC -3'
Posted On 2015-10-21