Incidental Mutation 'IGL02875:Rad1'
ID 406185
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02875
Quality Score
Status
Chromosome 15
Chromosomal Location 10486104-10499149 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10493365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 264 (I264T)
Ref Sequence ENSEMBL: ENSMUSP00000022856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022856] [ENSMUST00000100775] [ENSMUST00000168408] [ENSMUST00000169519] [ENSMUST00000170100]
AlphaFold Q9QWZ1
Predicted Effect probably benign
Transcript: ENSMUST00000022856
AA Change: I264T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000022856
Gene: ENSMUSG00000022248
AA Change: I264T

DomainStartEndE-ValueType
Pfam:Rad1 16 257 2.2e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100775
SMART Domains Protein: ENSMUSP00000098338
Gene: ENSMUSG00000022248

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: ENSMUST00000169519
SMART Domains Protein: ENSMUSP00000126645
Gene: ENSMUSG00000022248

DomainStartEndE-ValueType
Pfam:Rad1 16 133 9e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170100
SMART Domains Protein: ENSMUSP00000128601
Gene: ENSMUSG00000022248

DomainStartEndE-ValueType
Pfam:Rad1 1 161 1.3e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170531
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,122,293 (GRCm39) I397V possibly damaging Het
Asph A G 4: 9,595,380 (GRCm39) S281P probably damaging Het
Bdnf T C 2: 109,554,196 (GRCm39) V150A probably damaging Het
Birc6 T C 17: 74,896,713 (GRCm39) V1053A probably damaging Het
Btg4 T A 9: 51,030,446 (GRCm39) F182Y probably benign Het
Casc3 T G 11: 98,712,378 (GRCm39) V139G probably damaging Het
Ccno C A 13: 113,124,586 (GRCm39) P52Q possibly damaging Het
Cdk1 T G 10: 69,178,366 (GRCm39) probably benign Het
Daam2 A C 17: 49,771,056 (GRCm39) I887S probably damaging Het
Dmrta1 A G 4: 89,579,985 (GRCm39) D315G possibly damaging Het
Dnah6 T C 6: 73,115,698 (GRCm39) I1515V probably damaging Het
Dock7 A T 4: 98,864,231 (GRCm39) I1241K probably benign Het
Fam180a T C 6: 35,290,617 (GRCm39) D122G probably damaging Het
Gm11992 C T 11: 9,002,887 (GRCm39) probably benign Het
Il1b A G 2: 129,209,171 (GRCm39) I153T probably benign Het
Kntc1 C A 5: 123,916,340 (GRCm39) probably null Het
Krt77 T C 15: 101,777,584 (GRCm39) D157G probably damaging Het
Lmbr1 A G 5: 29,497,186 (GRCm39) S72P probably damaging Het
Mphosph9 T A 5: 124,421,800 (GRCm39) probably null Het
Mpp4 C T 1: 59,175,993 (GRCm39) probably null Het
Ncbp2 T A 16: 31,772,971 (GRCm39) L36Q probably damaging Het
Or2b7 T A 13: 21,740,172 (GRCm39) S7C probably damaging Het
Or4a72 T C 2: 89,405,896 (GRCm39) Y58C probably damaging Het
Or8b3 A G 9: 38,314,472 (GRCm39) M101V probably damaging Het
Oscp1 A G 4: 125,970,601 (GRCm39) D130G probably damaging Het
Pls1 A T 9: 95,636,404 (GRCm39) M615K possibly damaging Het
Prep C A 10: 45,034,529 (GRCm39) H680Q probably damaging Het
Rhbdf1 A G 11: 32,163,293 (GRCm39) V393A possibly damaging Het
Skint3 A T 4: 112,113,079 (GRCm39) I230L possibly damaging Het
Slc9b1 T A 3: 135,080,167 (GRCm39) probably benign Het
Slfn3 T C 11: 83,104,253 (GRCm39) Y375H probably damaging Het
Ssrp1 T A 2: 84,871,264 (GRCm39) I257N probably damaging Het
Svep1 A G 4: 58,082,821 (GRCm39) probably benign Het
Tcl1b2 T C 12: 105,120,358 (GRCm39) *118Q probably null Het
Thsd7b A G 1: 129,879,130 (GRCm39) Y989C probably damaging Het
Trim58 C T 11: 58,531,292 (GRCm39) probably benign Het
Vmn2r42 T C 7: 8,197,852 (GRCm39) T256A probably benign 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
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
R2318:Rad1 UTSW 15 10,490,495 (GRCm39) missense probably benign 0.06
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
Posted On 2016-08-02