Incidental Mutation 'R4743:Rad9a'
ID 358197
Institutional Source Beutler Lab
Gene Symbol Rad9a
Ensembl Gene ENSMUSG00000024824
Gene Name RAD9 checkpoint clamp component A
Synonyms Rad9
MMRRC Submission 041967-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4743 (G1)
Quality Score 225
Status 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: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 98% (44/45)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik A G 1: 85,858,972 (GRCm39) probably benign Het
Ahcy T C 2: 154,910,888 (GRCm39) N27D probably damaging Het
Akap9 T G 5: 4,011,013 (GRCm39) L572R probably damaging Het
Akna A G 4: 63,296,850 (GRCm39) S909P probably damaging Het
Atr A G 9: 95,744,845 (GRCm39) E54G probably benign Het
Baz2b A G 2: 59,744,255 (GRCm39) S1417P probably benign Het
Colgalt2 A G 1: 152,276,094 (GRCm39) Y69C probably damaging Het
Comp A G 8: 70,828,711 (GRCm39) E181G probably damaging Het
Dcaf10 T A 4: 45,370,409 (GRCm39) S326T probably damaging Het
Dscam T C 16: 96,631,256 (GRCm39) E253G probably benign Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Epha1 G T 6: 42,349,155 (GRCm39) T36K probably benign Het
Ewsr1 A T 11: 5,033,541 (GRCm39) D210E unknown Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fndc1 T A 17: 7,991,111 (GRCm39) R862* probably null Het
Gbp8 T C 5: 105,178,707 (GRCm39) K203E possibly damaging Het
Gigyf2 T A 1: 87,292,970 (GRCm39) L79* probably null Het
Gm8220 T A 14: 44,523,152 (GRCm39) probably benign Het
Gm9755 A T 8: 67,966,929 (GRCm39) noncoding transcript Het
Il6 T C 5: 30,223,042 (GRCm39) Y120H probably damaging Het
Kcnma1 T C 14: 23,853,270 (GRCm39) T2A probably damaging Het
Mroh9 T C 1: 162,852,061 (GRCm39) Y876C probably benign Het
Plekhh2 A G 17: 84,878,548 (GRCm39) Y601C probably damaging Het
Rabgap1l G T 1: 160,281,353 (GRCm39) Q623K probably damaging Het
Rapgef2 T C 3: 79,080,375 (GRCm39) Y109C probably damaging Het
Rhox2c A C X: 36,635,351 (GRCm39) Q4H probably benign Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Slain2 T A 5: 73,114,927 (GRCm39) L386* probably null Het
Slc4a7 A G 14: 14,796,073 (GRCm38) probably null Het
Slco1c1 T C 6: 141,510,242 (GRCm39) C582R probably damaging Het
Sulf1 A G 1: 12,906,517 (GRCm39) N520D probably benign Het
Tbc1d7 A G 13: 43,323,325 (GRCm39) V22A probably damaging Het
Tmprss6 A G 15: 78,327,910 (GRCm39) V612A probably damaging Het
Trpv2 A G 11: 62,483,627 (GRCm39) E488G probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Uspl1 A G 5: 149,146,566 (GRCm39) Y439C probably damaging Het
Vwf A G 6: 125,661,054 (GRCm39) probably null 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
R4694:Rad9a UTSW 19 4,250,560 (GRCm39) missense probably damaging 1.00
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
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'- GGCTATCTAAGATCTGTGGAGAGG -3'

Sequencing Primer
(F):5'- TCTCAGGGCTTGGCAACCTC -3'
(R):5'- AAAAGGTTAGTGGCCCTTCC -3'
Posted On 2015-11-11