Incidental Mutation 'R5530:Rad21l'
ID 433621
Institutional Source Beutler Lab
Gene Symbol Rad21l
Ensembl Gene ENSMUSG00000074704
Gene Name RAD21-like (S. pombe)
Synonyms Gm14160
MMRRC Submission 043088-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5530 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 151487324-151510453 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 151499430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 257 (I257K)
Ref Sequence ENSEMBL: ENSMUSP00000136918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096439] [ENSMUST00000180195]
AlphaFold A2AU37
Predicted Effect probably benign
Transcript: ENSMUST00000096439
AA Change: I254K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000094174
Gene: ENSMUSG00000074704
AA Change: I254K

DomainStartEndE-ValueType
Pfam:Rad21_Rec8_N 1 111 3.9e-43 PFAM
low complexity region 198 213 N/A INTRINSIC
low complexity region 275 299 N/A INTRINSIC
Pfam:Rad21_Rec8 493 546 1.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180195
AA Change: I257K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000136918
Gene: ENSMUSG00000074704
AA Change: I257K

DomainStartEndE-ValueType
Pfam:Rad21_Rec8_N 1 106 5.7e-40 PFAM
low complexity region 198 213 N/A INTRINSIC
low complexity region 278 302 N/A INTRINSIC
Pfam:Rad21_Rec8 496 549 1.3e-19 PFAM
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.4%
  • 10x: 95.3%
  • 20x: 91.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility and reduced female fertility associated with abnormal meiosis and synaptonemal complex. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 A G 1: 75,154,556 (GRCm39) probably benign Het
Anapc2 A G 2: 25,174,595 (GRCm39) K653E possibly damaging Het
Aplp1 T C 7: 30,136,254 (GRCm39) S508G possibly damaging Het
Bend3 T A 10: 43,387,722 (GRCm39) V705D probably damaging Het
Btaf1 C A 19: 36,968,175 (GRCm39) A1120E possibly damaging Het
Carmil3 T C 14: 55,731,081 (GRCm39) V116A probably damaging Het
Cdk5rap3 A T 11: 96,802,459 (GRCm39) Y238* probably null Het
Cep170 T C 1: 176,597,076 (GRCm39) H427R probably benign Het
Cubn G A 2: 13,313,334 (GRCm39) R3079W probably damaging Het
Edc4 G T 8: 106,615,886 (GRCm39) E694* probably null Het
Entrep1 T A 19: 23,952,958 (GRCm39) T451S probably benign Het
Epb41l4b A G 4: 57,086,003 (GRCm39) S191P probably damaging Het
Fbxo46 T C 7: 18,870,727 (GRCm39) Y449H probably damaging Het
Ficd C A 5: 113,876,986 (GRCm39) P387Q probably damaging Het
Grin2b T C 6: 135,710,721 (GRCm39) T942A probably benign Het
Hoxb1 G C 11: 96,257,754 (GRCm39) R228P probably damaging Het
Jmjd1c T C 10: 67,085,541 (GRCm39) F2444L probably damaging Het
Kcnj2 T C 11: 110,962,917 (GRCm39) F103S probably damaging Het
Mapkbp1 A G 2: 119,845,836 (GRCm39) I402V probably benign Het
Mtcl2 T A 2: 156,862,262 (GRCm39) S1556C probably damaging Het
Mvp A G 7: 126,595,095 (GRCm39) V250A probably benign Het
Myo1b T A 1: 51,836,582 (GRCm39) N293I probably damaging Het
Npy5r T A 8: 67,133,512 (GRCm39) Y427F probably benign Het
Nrdc C T 4: 108,904,806 (GRCm39) T747M probably damaging Het
Nrxn2 C T 19: 6,548,397 (GRCm39) P30L possibly damaging Het
Nt5dc3 T C 10: 86,656,857 (GRCm39) F332S probably damaging Het
Optc T G 1: 133,832,828 (GRCm39) T91P probably benign Het
Or14j10 A G 17: 37,934,698 (GRCm39) I276T possibly damaging Het
Or8b12c A G 9: 37,716,103 (GRCm39) T299A probably benign Het
Otud7b A T 3: 96,048,799 (GRCm39) E92V probably damaging Het
Pgap4 A G 4: 49,586,226 (GRCm39) L314P probably benign Het
Pla2g4d A G 2: 120,100,036 (GRCm39) I677T probably benign Het
Pot1a T C 6: 25,778,893 (GRCm39) E67G probably damaging Het
Ppil6 T C 10: 41,383,494 (GRCm39) S257P probably damaging Het
Ppp1r14a T C 7: 28,988,791 (GRCm39) L11P probably benign Het
Ppp1r14bl A T 1: 23,141,071 (GRCm39) I81N probably damaging Het
Pramel13 A T 4: 144,119,232 (GRCm39) M445K probably benign Het
Rbm11 A G 16: 75,389,861 (GRCm39) D9G possibly damaging Het
Rhbdf2 T C 11: 116,491,488 (GRCm39) Y586C probably damaging Het
Rxfp2 A T 5: 149,980,275 (GRCm39) I276F probably damaging Het
Sec14l4 A G 11: 3,996,342 (GRCm39) *404W probably null Het
Sec16a A G 2: 26,329,264 (GRCm39) V917A probably benign Het
Sec61a2 A T 2: 5,887,461 (GRCm39) Y131* probably null Het
Sspo A T 6: 48,442,517 (GRCm39) Y2004F probably damaging Het
Stab2 T C 10: 86,783,026 (GRCm39) E674G probably benign Het
Tmf1 A G 6: 97,135,048 (GRCm39) S989P probably damaging Het
Tshz1 T C 18: 84,031,393 (GRCm39) D1005G probably damaging Het
Wdr19 T C 5: 65,385,562 (GRCm39) S555P probably benign Het
Zdhhc24 T A 19: 4,933,591 (GRCm39) probably null Het
Zfp558 A G 9: 18,367,669 (GRCm39) M373T probably benign Het
Other mutations in Rad21l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Rad21l APN 2 151,495,436 (GRCm39) missense probably benign 0.04
IGL00815:Rad21l APN 2 151,509,909 (GRCm39) missense probably damaging 1.00
IGL00847:Rad21l APN 2 151,502,635 (GRCm39) missense probably benign 0.00
IGL01545:Rad21l APN 2 151,497,084 (GRCm39) missense probably benign 0.00
IGL02983:Rad21l APN 2 151,497,040 (GRCm39) missense probably damaging 1.00
IGL03001:Rad21l APN 2 151,510,389 (GRCm39) missense probably damaging 1.00
3-1:Rad21l UTSW 2 151,496,567 (GRCm39) missense possibly damaging 0.52
R0219:Rad21l UTSW 2 151,496,508 (GRCm39) splice site probably benign
R0382:Rad21l UTSW 2 151,487,363 (GRCm39) missense probably damaging 1.00
R0413:Rad21l UTSW 2 151,493,851 (GRCm39) missense probably benign
R0511:Rad21l UTSW 2 151,490,989 (GRCm39) splice site probably benign
R1555:Rad21l UTSW 2 151,500,348 (GRCm39) missense probably benign 0.03
R1606:Rad21l UTSW 2 151,496,606 (GRCm39) missense probably damaging 1.00
R1696:Rad21l UTSW 2 151,510,447 (GRCm39) missense probably damaging 1.00
R1951:Rad21l UTSW 2 151,497,179 (GRCm39) missense probably benign 0.04
R1999:Rad21l UTSW 2 151,496,621 (GRCm39) critical splice acceptor site probably null
R2060:Rad21l UTSW 2 151,487,349 (GRCm39) missense probably benign 0.21
R2068:Rad21l UTSW 2 151,509,927 (GRCm39) missense probably damaging 1.00
R3037:Rad21l UTSW 2 151,502,700 (GRCm39) missense probably damaging 1.00
R4805:Rad21l UTSW 2 151,509,927 (GRCm39) missense probably damaging 1.00
R5185:Rad21l UTSW 2 151,499,382 (GRCm39) missense probably benign 0.01
R5388:Rad21l UTSW 2 151,495,403 (GRCm39) missense probably benign
R5504:Rad21l UTSW 2 151,510,357 (GRCm39) missense probably damaging 1.00
R6113:Rad21l UTSW 2 151,499,398 (GRCm39) missense probably damaging 0.98
R6233:Rad21l UTSW 2 151,495,462 (GRCm39) missense probably benign
R7096:Rad21l UTSW 2 151,509,840 (GRCm39) missense probably benign 0.31
R7337:Rad21l UTSW 2 151,500,365 (GRCm39) missense probably damaging 1.00
R7822:Rad21l UTSW 2 151,497,045 (GRCm39) missense probably benign
R8315:Rad21l UTSW 2 151,497,160 (GRCm39) missense probably benign 0.00
R8368:Rad21l UTSW 2 151,495,390 (GRCm39) missense probably benign
R8673:Rad21l UTSW 2 151,502,718 (GRCm39) missense possibly damaging 0.77
R8698:Rad21l UTSW 2 151,487,373 (GRCm39) missense probably damaging 1.00
R8769:Rad21l UTSW 2 151,509,838 (GRCm39) missense probably benign 0.05
R9308:Rad21l UTSW 2 151,491,049 (GRCm39) missense probably benign 0.07
Z1088:Rad21l UTSW 2 151,509,939 (GRCm39) missense probably damaging 1.00
Z1176:Rad21l UTSW 2 151,497,152 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTGTCTTCCCAGGGAAACTG -3'
(R):5'- AAATGTTGTAGGCCTCAGACC -3'

Sequencing Primer
(F):5'- GGAAACTGGATGCTGGGC -3'
(R):5'- AGGCCTCAGACCATTTATTACTGAGC -3'
Posted On 2016-10-06