Incidental Mutation 'R2318:Rad1'
ID 245569
Institutional Source Beutler Lab
Gene Symbol Rad1
Ensembl Gene ENSMUSG00000022248
Gene Name RAD1 checkpoint DNA exonuclease
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.942) question?
Stock # R2318 (G1)
Quality Score 96
Status Not validated
Chromosome 15
Chromosomal Location 10486104-10499149 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10490495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 154 (N154S)
Ref Sequence ENSEMBL: ENSMUSP00000098338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022855] [ENSMUST00000022856] [ENSMUST00000100775] [ENSMUST00000168408] [ENSMUST00000168761] [ENSMUST00000169050] [ENSMUST00000170100] [ENSMUST00000169519]
AlphaFold Q9QWZ1
Predicted Effect probably benign
Transcript: ENSMUST00000022855
SMART Domains Protein: ENSMUSP00000022855
Gene: ENSMUSG00000022247

DomainStartEndE-ValueType
Brix 63 243 3.62e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000022856
AA Change: N154S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000022856
Gene: ENSMUSG00000022248
AA Change: N154S

DomainStartEndE-ValueType
Pfam:Rad1 16 257 2.2e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100775
AA Change: N154S

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000098338
Gene: ENSMUSG00000022248
AA Change: N154S

DomainStartEndE-ValueType
Pfam:Rad1 16 235 5.5e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168408
SMART Domains Protein: ENSMUSP00000132747
Gene: ENSMUSG00000022248

DomainStartEndE-ValueType
Pfam:Rad1 16 67 1.7e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168761
SMART Domains Protein: ENSMUSP00000130602
Gene: ENSMUSG00000022247

DomainStartEndE-ValueType
Blast:Brix 10 51 5e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000169050
SMART Domains Protein: ENSMUSP00000127437
Gene: ENSMUSG00000022247

DomainStartEndE-ValueType
Pfam:Brix 72 154 8.8e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170100
AA Change: N124S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000128601
Gene: ENSMUSG00000022248
AA Change: N124S

DomainStartEndE-ValueType
Pfam:Rad1 1 161 1.3e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170531
Predicted Effect probably benign
Transcript: ENSMUST00000169519
SMART Domains Protein: ENSMUSP00000126645
Gene: ENSMUSG00000022248

DomainStartEndE-ValueType
Pfam:Rad1 16 133 9e-36 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of a heterotrimeric cell cycle checkpoint complex, known as the 9-1-1 complex, that is activated to stop cell cycle progression in response to DNA damage or incomplete DNA replication. The 9-1-1 complex is recruited by RAD17 to affected sites where it may attract specialized DNA polymerases and other DNA repair effectors. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit normal B cell DNA damage sensitivity, somatic hypermutation, and class switch recombination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef10 G A 8: 14,978,855 (GRCm39) A41T probably damaging Het
Car15 T C 16: 17,654,463 (GRCm39) M158V probably benign Het
Cinp C A 12: 110,840,443 (GRCm39) W113L probably damaging Het
Col4a3 T A 1: 82,626,290 (GRCm39) probably null Het
Csnk2b T C 17: 35,337,037 (GRCm39) Y101C possibly damaging Het
Ddb1 C T 19: 10,603,992 (GRCm39) R900C probably damaging Het
Eif4g2 A G 7: 110,673,065 (GRCm39) F876L possibly damaging Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
H4c4 A G 13: 23,765,739 (GRCm39) Y52C probably damaging Het
Mast1 T C 8: 85,647,754 (GRCm39) D540G probably damaging Het
Mis18bp1 C T 12: 65,187,617 (GRCm39) V829M possibly damaging Het
Mtus2 C T 5: 148,043,892 (GRCm39) R827* probably null Het
Nlrp9a G A 7: 26,273,277 (GRCm39) V860M probably damaging Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Prr14l T C 5: 32,987,422 (GRCm39) E691G probably benign Het
Sanbr A G 11: 23,538,701 (GRCm39) Y66H probably damaging Het
Slc10a4-ps T C 5: 72,743,638 (GRCm39) T27A probably benign Het
Smc2 T C 4: 52,446,030 (GRCm39) S133P probably damaging Het
Sstr1 T A 12: 58,259,562 (GRCm39) S62T possibly damaging Het
Thsd7a T C 6: 12,405,146 (GRCm39) Y766C probably damaging Het
Timm44 A G 8: 4,318,307 (GRCm39) V129A probably benign Het
Tinag T C 9: 76,952,693 (GRCm39) Y97C probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Ubap2 A G 4: 41,251,542 (GRCm39) V30A probably damaging Het
Other mutations in Rad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Rad1 APN 15 10,490,495 (GRCm39) missense probably benign 0.06
IGL01536:Rad1 APN 15 10,493,286 (GRCm39) missense possibly damaging 0.94
IGL01544:Rad1 APN 15 10,490,465 (GRCm39) missense probably damaging 0.99
IGL02058:Rad1 APN 15 10,493,361 (GRCm39) missense probably benign 0.01
IGL02368:Rad1 APN 15 10,493,337 (GRCm39) missense probably benign 0.19
IGL02793:Rad1 APN 15 10,493,365 (GRCm39) missense probably benign 0.00
IGL02875:Rad1 APN 15 10,493,365 (GRCm39) missense probably benign 0.00
R0271:Rad1 UTSW 15 10,490,543 (GRCm39) splice site probably null
R1874:Rad1 UTSW 15 10,488,092 (GRCm39) missense probably damaging 1.00
R2154:Rad1 UTSW 15 10,486,721 (GRCm39) missense possibly damaging 0.77
R2369:Rad1 UTSW 15 10,486,745 (GRCm39) missense probably damaging 1.00
R2875:Rad1 UTSW 15 10,490,417 (GRCm39) missense probably benign 0.09
R2876:Rad1 UTSW 15 10,490,417 (GRCm39) missense probably benign 0.09
R2915:Rad1 UTSW 15 10,486,728 (GRCm39) missense probably damaging 0.99
R3721:Rad1 UTSW 15 10,488,112 (GRCm39) missense probably benign 0.00
R4754:Rad1 UTSW 15 10,493,212 (GRCm39) intron probably benign
R4931:Rad1 UTSW 15 10,492,848 (GRCm39) intron probably benign
R5274:Rad1 UTSW 15 10,488,059 (GRCm39) splice site probably null
R5640:Rad1 UTSW 15 10,496,009 (GRCm39) missense possibly damaging 0.47
R5885:Rad1 UTSW 15 10,488,143 (GRCm39) missense probably damaging 1.00
R6056:Rad1 UTSW 15 10,488,160 (GRCm39) missense probably damaging 0.99
R6341:Rad1 UTSW 15 10,492,907 (GRCm39) missense probably damaging 0.99
R6420:Rad1 UTSW 15 10,488,098 (GRCm39) missense probably benign 0.00
R7068:Rad1 UTSW 15 10,490,379 (GRCm39) nonsense probably null
R7205:Rad1 UTSW 15 10,493,343 (GRCm39) missense probably benign 0.00
R7312:Rad1 UTSW 15 10,493,367 (GRCm39) missense probably benign 0.00
R7817:Rad1 UTSW 15 10,493,404 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTCATTTGGAGGGAACGCTAAC -3'
(R):5'- TGCAACTCAAGCAAATGTTGTG -3'

Sequencing Primer
(F):5'- TAGAGCTAAGCCCCATGTGC -3'
(R):5'- CTCAAGCAAATGTTGTGTGGAG -3'
Posted On 2014-10-30