Incidental Mutation 'R1216:Rad21'
ID 99679
Institutional Source Beutler Lab
Gene Symbol Rad21
Ensembl Gene ENSMUSG00000022314
Gene Name RAD21 cohesin complex component
Synonyms SCC1
MMRRC Submission 039285-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1216 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 51825636-51855143 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51833532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 316 (T316A)
Ref Sequence ENSEMBL: ENSMUSP00000022927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022927] [ENSMUST00000226529]
AlphaFold Q61550
Predicted Effect possibly damaging
Transcript: ENSMUST00000022927
AA Change: T316A

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022927
Gene: ENSMUSG00000022314
AA Change: T316A

DomainStartEndE-ValueType
Pfam:Rad21_Rec8_N 1 107 6.6e-43 PFAM
low complexity region 267 283 N/A INTRINSIC
low complexity region 430 440 N/A INTRINSIC
low complexity region 502 514 N/A INTRINSIC
low complexity region 521 547 N/A INTRINSIC
Pfam:Rad21_Rec8 578 632 2.4e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226529
Meta Mutation Damage Score 0.0780 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.3%
Validation Efficiency 98% (45/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad21, a gene involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion during mitosis. This protein is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The highly regulated association of this protein with mitotic chromatin specifically at the centromere region suggests its role in sister chromatid cohesion in mitotic cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit prenatal lethality, reduced male fertility, and produce oocytes that fail to maintain sister chromatids in the first mitosis following fertilization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 11,868,716 (GRCm39) D332V probably damaging Het
Akr1c12 T C 13: 4,326,322 (GRCm39) Y53C probably benign Het
Arhgap23 T C 11: 97,383,498 (GRCm39) probably benign Het
AU040320 T C 4: 126,710,276 (GRCm39) probably benign Het
B4galnt2 A G 11: 95,782,767 (GRCm39) L15P probably benign Het
Cadps2 A G 6: 23,583,472 (GRCm39) probably benign Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Dppa4 T C 16: 48,113,343 (GRCm39) F244S possibly damaging Het
Exoc1 A G 5: 76,702,035 (GRCm39) K445R probably benign Het
Fam47e A G 5: 92,710,343 (GRCm39) E114G probably damaging Het
Fgf12 A T 16: 27,981,202 (GRCm39) N171K possibly damaging Het
Fyb2 G A 4: 104,852,903 (GRCm39) V528M possibly damaging Het
Ghr A G 15: 3,349,337 (GRCm39) S614P probably damaging Het
Gm10985 A C 3: 53,752,674 (GRCm39) Y19S probably damaging Het
Gpr152 T A 19: 4,193,554 (GRCm39) V365D possibly damaging Het
Guca1a A G 17: 47,706,637 (GRCm39) probably benign Het
Hivep1 G A 13: 42,310,997 (GRCm39) G1079D probably benign Het
Hnrnpm T C 17: 33,868,687 (GRCm39) D580G probably damaging Het
Ints6 A T 14: 62,945,147 (GRCm39) D394E probably damaging Het
Kat6b T A 14: 21,672,108 (GRCm39) Y339* probably null Het
Kcnj11 C A 7: 45,749,285 (GRCm39) V13L probably benign Het
Lama3 C T 18: 12,554,191 (GRCm39) probably benign Het
Mtrex A G 13: 113,050,876 (GRCm39) probably benign Het
Myo18a A G 11: 77,709,473 (GRCm39) T161A probably benign Het
Ncapg G T 5: 45,857,261 (GRCm39) S991I possibly damaging Het
Nrde2 G A 12: 100,116,069 (GRCm39) probably benign Het
Or4c127 T A 2: 89,832,822 (GRCm39) I24N probably benign Het
Or5d18 T C 2: 87,864,602 (GRCm39) R294G probably damaging Het
Pcdhb7 A T 18: 37,476,927 (GRCm39) T688S probably damaging Het
Pla2g6 T C 15: 79,190,635 (GRCm39) D309G probably benign Het
Plod1 A T 4: 148,005,584 (GRCm39) V404D probably damaging Het
Ppp2r2a G T 14: 67,266,447 (GRCm39) Y71* probably null Het
Prcp A G 7: 92,566,954 (GRCm39) N222S probably benign Het
Ranbp2 T C 10: 58,319,034 (GRCm39) probably benign Het
Rapgef4 C A 2: 72,038,492 (GRCm39) P548T possibly damaging Het
Ric1 G T 19: 29,555,135 (GRCm39) M416I probably benign Het
Slc9a8 T C 2: 167,266,041 (GRCm39) F6S probably benign Het
Smpdl3a T G 10: 57,678,575 (GRCm39) I126S probably null Het
Sphkap A T 1: 83,268,698 (GRCm39) L98Q probably damaging Het
Spink4 T G 4: 40,924,974 (GRCm39) probably benign Het
Taar5 A T 10: 23,847,605 (GRCm39) L334F probably damaging Het
Tecta A T 9: 42,289,203 (GRCm39) I454K probably benign Het
Ttc7 C T 17: 87,654,006 (GRCm39) T561M possibly damaging Het
Vmn2r9 G T 5: 108,995,440 (GRCm39) H403N probably damaging Het
Zdbf2 G A 1: 63,342,161 (GRCm39) C180Y possibly damaging Het
Other mutations in Rad21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00799:Rad21 APN 15 51,839,521 (GRCm39) missense possibly damaging 0.76
IGL01328:Rad21 APN 15 51,836,520 (GRCm39) missense probably damaging 1.00
PIT4449001:Rad21 UTSW 15 51,836,639 (GRCm39) missense probably benign 0.25
R0119:Rad21 UTSW 15 51,828,426 (GRCm39) missense probably benign 0.01
R0299:Rad21 UTSW 15 51,828,426 (GRCm39) missense probably benign 0.01
R0385:Rad21 UTSW 15 51,837,259 (GRCm39) missense possibly damaging 0.70
R0440:Rad21 UTSW 15 51,831,754 (GRCm39) missense probably benign 0.24
R1631:Rad21 UTSW 15 51,833,436 (GRCm39) missense probably damaging 1.00
R1763:Rad21 UTSW 15 51,841,566 (GRCm39) missense probably damaging 1.00
R1769:Rad21 UTSW 15 51,835,703 (GRCm39) missense probably benign
R2377:Rad21 UTSW 15 51,831,834 (GRCm39) missense probably damaging 0.99
R2761:Rad21 UTSW 15 51,846,039 (GRCm39) missense probably damaging 1.00
R3116:Rad21 UTSW 15 51,828,397 (GRCm39) missense probably null 1.00
R3853:Rad21 UTSW 15 51,835,712 (GRCm39) missense probably benign
R3875:Rad21 UTSW 15 51,833,361 (GRCm39) missense probably damaging 0.99
R4618:Rad21 UTSW 15 51,833,420 (GRCm39) missense probably damaging 1.00
R4856:Rad21 UTSW 15 51,831,896 (GRCm39) missense probably damaging 1.00
R4886:Rad21 UTSW 15 51,831,896 (GRCm39) missense probably damaging 1.00
R5022:Rad21 UTSW 15 51,830,102 (GRCm39) missense probably benign 0.02
R5057:Rad21 UTSW 15 51,830,102 (GRCm39) missense probably benign 0.02
R7288:Rad21 UTSW 15 51,845,976 (GRCm39) missense possibly damaging 0.94
R7840:Rad21 UTSW 15 51,836,538 (GRCm39) missense probably damaging 1.00
R7980:Rad21 UTSW 15 51,828,422 (GRCm39) missense probably benign 0.07
R8033:Rad21 UTSW 15 51,827,628 (GRCm39) missense probably damaging 1.00
R8770:Rad21 UTSW 15 51,831,749 (GRCm39) missense probably benign 0.00
R9176:Rad21 UTSW 15 51,841,455 (GRCm39) missense probably damaging 0.99
Z1088:Rad21 UTSW 15 51,846,022 (GRCm39) missense probably damaging 0.97
Z1177:Rad21 UTSW 15 51,841,454 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GAAGCCAGTGAGACTATTGAGCTGTG -3'
(R):5'- AAGAATGTCTGACAGGTGTGCTATGTG -3'

Sequencing Primer
(F):5'- GCACGTATCAGTTTGAGCAC -3'
(R):5'- ACAGGTGTGCTATGTGTATCATTTAC -3'
Posted On 2014-01-15