Incidental Mutation 'R9490:Rad9a'
ID 716912
Institutional Source Beutler Lab
Gene Symbol Rad9a
Ensembl Gene ENSMUSG00000024824
Gene Name RAD9 checkpoint clamp component A
Synonyms Rad9
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9490 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 4245195-4251661 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4247547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 200 (G200R)
Ref Sequence ENSEMBL: ENSMUSP00000025740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025740] [ENSMUST00000046094]
AlphaFold Q9Z0F6
Predicted Effect probably damaging
Transcript: ENSMUST00000025740
AA Change: G200R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025740
Gene: ENSMUSG00000024824
AA Change: G200R

DomainStartEndE-ValueType
Pfam:Rad9 13 265 6.6e-101 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000046094
SMART Domains Protein: ENSMUSP00000039109
Gene: ENSMUSG00000040385

DomainStartEndE-ValueType
PP2Ac 30 300 1.4e-164 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A G 10: 79,834,601 (GRCm39) D167G probably benign Het
Arhgef37 G T 18: 61,641,907 (GRCm39) P154Q probably damaging Het
Chsy3 A T 18: 59,312,486 (GRCm39) S320C probably damaging Het
Col1a2 C A 6: 4,505,901 (GRCm39) T21K unknown Het
Ctcfl A T 2: 172,960,548 (GRCm39) Y12N probably benign Het
Cyria A G 12: 12,390,727 (GRCm39) E13G probably benign Het
Disp1 A G 1: 182,871,092 (GRCm39) Y443H probably benign Het
Dock2 T A 11: 34,589,582 (GRCm39) T492S possibly damaging Het
Edil3 G A 13: 89,347,591 (GRCm39) C382Y probably benign Het
Fancd2 A G 6: 113,555,416 (GRCm39) K1142E probably damaging Het
Fibcd1 T A 2: 31,723,815 (GRCm39) T275S possibly damaging Het
Fstl5 T C 3: 76,615,060 (GRCm39) V707A possibly damaging Het
Gm7298 G A 6: 121,751,083 (GRCm39) R720H probably benign Het
Hivep1 A T 13: 42,311,518 (GRCm39) T1253S probably damaging Het
Kif15 A G 9: 122,788,203 (GRCm39) N14S probably benign Het
Ldhc G A 7: 46,519,184 (GRCm39) V136I probably damaging Het
Madd T C 2: 91,008,501 (GRCm39) S134G probably benign Het
Map3k5 T C 10: 20,007,797 (GRCm39) S1209P probably benign Het
Mapre2 A G 18: 23,986,764 (GRCm39) K101E possibly damaging Het
Muc16 T A 9: 18,568,149 (GRCm39) R1457* probably null Het
Muc5b T C 7: 141,425,497 (GRCm39) V4714A probably benign Het
Pcdhgb5 T C 18: 37,865,240 (GRCm39) V345A probably benign Het
Phkb T C 8: 86,628,525 (GRCm39) F170S probably damaging Het
Pip5kl1 C T 2: 32,466,667 (GRCm39) P12L probably benign Het
Pramel14 T A 4: 143,719,606 (GRCm39) N253I probably benign Het
Prmt2 G A 10: 76,053,227 (GRCm39) P263S probably damaging Het
Rab44 C T 17: 29,354,065 (GRCm39) probably benign Het
Ralgapb A G 2: 158,334,350 (GRCm39) T1354A probably benign Het
Rere A G 4: 150,516,040 (GRCm39) D111G probably benign Het
Rnase2b A T 14: 51,400,284 (GRCm39) T122S probably benign Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc26a2 C G 18: 61,331,881 (GRCm39) V517L probably benign Het
Spock2 A G 10: 59,961,641 (GRCm39) K195R probably benign Het
Tgm7 T A 2: 120,928,867 (GRCm39) D343V probably damaging Het
Tmf1 T C 6: 97,137,227 (GRCm39) T910A probably benign Het
Ttc3 T C 16: 94,245,360 (GRCm39) V1457A probably benign Het
Wdfy3 A G 5: 102,078,716 (GRCm39) V862A 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
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
R5346:Rad9a UTSW 19 4,251,517 (GRCm39) splice site probably null
R7532:Rad9a UTSW 19 4,251,522 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- CTGCCTGGAACATCGAAGTG -3'
(R):5'- ATTGACTGAGGTGACACTGG -3'

Sequencing Primer
(F):5'- GAGGCAAATTCGCTGACTCTG -3'
(R):5'- TGACACTGGGCATTGGC -3'
Posted On 2022-07-18