Incidental Mutation 'R5346:Rad9a'
ID 422642
Institutional Source Beutler Lab
Gene Symbol Rad9a
Ensembl Gene ENSMUSG00000024824
Gene Name RAD9 checkpoint clamp component A
Synonyms Rad9
MMRRC Submission 042925-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5346 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 4245195-4251661 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to C at 4251517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025740]
AlphaFold Q9Z0F6
Predicted Effect probably null
Transcript: ENSMUST00000025740
SMART Domains Protein: ENSMUSP00000025740
Gene: ENSMUSG00000024824

DomainStartEndE-ValueType
Pfam:Rad9 13 265 6.6e-101 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.3%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 T A 5: 62,872,089 (GRCm39) Y513F probably benign Het
Cluh C A 11: 74,556,044 (GRCm39) H832N probably damaging Het
Cntfr G T 4: 41,675,042 (GRCm39) Y21* probably null Het
Cog2 T C 8: 125,273,370 (GRCm39) S570P possibly damaging Het
Cops7b A G 1: 86,510,790 (GRCm39) probably benign Het
Cpox G A 16: 58,495,649 (GRCm39) G322D probably damaging Het
Dop1a A G 9: 86,402,835 (GRCm39) D1345G probably damaging Het
Dqx1 G A 6: 83,036,700 (GRCm39) D235N possibly damaging Het
Dscaml1 A G 9: 45,361,857 (GRCm39) I206V possibly damaging Het
Ednra T C 8: 78,401,597 (GRCm39) Y231C probably damaging Het
Ehhadh T C 16: 21,581,540 (GRCm39) Y484C probably damaging Het
Fmnl3 A T 15: 99,229,871 (GRCm39) V150D probably damaging Het
Gabrb2 T A 11: 42,312,216 (GRCm39) S14T probably benign Het
Gm10608 GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,792 (GRCm39) probably null Het
Gpatch2 T C 1: 186,958,065 (GRCm39) L140P probably benign Het
Gsdmc A G 15: 63,648,735 (GRCm39) Y400H probably damaging Het
Heatr5b A G 17: 79,135,415 (GRCm39) S239P probably benign Het
Hmcn1 A T 1: 150,498,995 (GRCm39) I4004N probably damaging Het
Insc T A 7: 114,403,776 (GRCm39) N63K possibly damaging Het
Mmp28 T C 11: 83,333,489 (GRCm39) H484R probably benign Het
Nptn C A 9: 58,531,070 (GRCm39) Y64* probably null Het
Nsd2 T A 5: 34,036,480 (GRCm39) S655T possibly damaging Het
Nub1 A G 5: 24,902,414 (GRCm39) E253G probably damaging Het
Or3a1d T C 11: 74,237,496 (GRCm39) R305G probably benign Het
Pde3b T A 7: 114,105,425 (GRCm39) H452Q probably benign Het
Pkhd1 T C 1: 20,462,321 (GRCm39) M2078V probably benign Het
Pkhd1 T C 1: 20,593,658 (GRCm39) D1485G probably damaging Het
Pkhd1l1 A C 15: 44,404,363 (GRCm39) T2331P probably damaging Het
Plk5 G A 10: 80,198,942 (GRCm39) G433E probably damaging Het
Pnliprp2 T A 19: 58,748,232 (GRCm39) D4E probably benign Het
Prag1 A G 8: 36,570,839 (GRCm39) D474G probably damaging Het
Psmc1 A G 12: 100,086,359 (GRCm39) N332S probably damaging Het
Slf1 A G 13: 77,240,490 (GRCm39) V396A probably benign Het
Stat6 G A 10: 127,488,182 (GRCm39) R312K probably benign Het
Tgm1 A T 14: 55,948,629 (GRCm39) V174E probably damaging Het
Tnc A G 4: 63,926,892 (GRCm39) V878A probably benign Het
Ube4b A T 4: 149,421,881 (GRCm39) H969Q possibly damaging Het
Ubr4 T C 4: 139,155,802 (GRCm39) I2209T probably damaging Het
Ulk2 A C 11: 61,725,740 (GRCm39) L112R probably damaging Het
Wdr35 T C 12: 9,028,684 (GRCm39) Y101H probably benign Het
Xpo7 A G 14: 70,921,117 (GRCm39) L617P probably damaging 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
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
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'- CTTCAAGGGTTCCAGATAGAGC -3'
(R):5'- ACTAGATCACGTGACACCGAG -3'

Sequencing Primer
(F):5'- CAAGGGTTCCAGATAGAGCTCGTC -3'
(R):5'- GACACCGAGCTTAGGAACGTTTTTC -3'
Posted On 2016-08-04