Incidental Mutation 'IGL02983:Rad21l'
ID 406624
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rad21l
Ensembl Gene ENSMUSG00000074704
Gene Name RAD21-like (S. pombe)
Synonyms Gm14160
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02983
Quality Score
Status
Chromosome 2
Chromosomal Location 151645404-151668533 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 151655120 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 358 (L358S)
Ref Sequence ENSEMBL: ENSMUSP00000136918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096439] [ENSMUST00000180195]
AlphaFold A2AU37
Predicted Effect probably damaging
Transcript: ENSMUST00000096439
AA Change: L355S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094174
Gene: ENSMUSG00000074704
AA Change: L355S

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 damaging
Transcript: ENSMUST00000180195
AA Change: L358S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136918
Gene: ENSMUSG00000074704
AA Change: L358S

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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020D05Rik A G 19: 5,503,181 F191L possibly damaging Het
Abca13 A G 11: 9,290,663 N842S probably benign Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Brip1 T C 11: 86,139,124 I565V probably benign Het
Camta2 C T 11: 70,672,022 R959Q probably damaging Het
Cbln2 A G 18: 86,713,379 E104G probably benign Het
Cdc42ep4 T C 11: 113,729,169 K132R probably benign Het
Clcnka T A 4: 141,390,131 I452F probably damaging Het
Clec4a3 T A 6: 122,967,567 probably null Het
Crat A C 2: 30,404,526 probably null Het
Cspp1 A G 1: 10,127,525 K227R probably benign Het
Ddx1 A T 12: 13,223,862 I588N probably damaging Het
Dip2b G T 15: 100,132,022 R98L possibly damaging Het
Dock5 G A 14: 67,764,670 P1617L probably damaging Het
Fa2h C T 8: 111,346,522 probably null Het
Fezf1 T A 6: 23,247,872 N68I probably damaging Het
Gabrb2 A T 11: 42,421,400 L17F probably benign Het
Gm17078 T C 14: 51,611,190 K30R probably benign Het
Gramd4 G A 15: 86,127,018 V249M probably damaging Het
Kcnd2 A C 6: 21,216,555 D86A probably damaging Het
Lrp1 T C 10: 127,550,199 E3486G probably damaging Het
Ltb A G 17: 35,194,670 D50G probably benign Het
Med18 A T 4: 132,459,686 Y167* probably null Het
Nat14 G A 7: 4,924,128 A100T probably damaging Het
Nxph2 T C 2: 23,400,362 V242A probably damaging Het
Olfr338 T A 2: 36,377,637 I287N probably damaging Het
Olfr443-ps1 T C 6: 43,094,648 noncoding transcript Het
Olfr54 T C 11: 51,027,380 V126A probably damaging Het
Olfr818 T A 10: 129,945,189 N291I probably damaging Het
Pramef20 T C 4: 144,373,127 E356G probably benign Het
Rasgef1c A G 11: 49,957,049 T4A possibly damaging Het
Spata31d1a A G 13: 59,703,694 S207P possibly damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Szt2 T C 4: 118,365,779 probably benign Het
Taf6 T C 5: 138,178,880 T642A probably benign Het
Tmem30a A T 9: 79,771,443 M277K possibly damaging Het
Vmn1r86 T C 7: 13,102,814 D45G probably damaging Het
Xkr5 T C 8: 18,933,832 I565V probably benign Het
Zfp526 C T 7: 25,224,415 A33V probably benign Het
Other mutations in Rad21l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Rad21l APN 2 151653516 missense probably benign 0.04
IGL00815:Rad21l APN 2 151667989 missense probably damaging 1.00
IGL00847:Rad21l APN 2 151660715 missense probably benign 0.00
IGL01545:Rad21l APN 2 151655164 missense probably benign 0.00
IGL03001:Rad21l APN 2 151668469 missense probably damaging 1.00
3-1:Rad21l UTSW 2 151654647 missense possibly damaging 0.52
R0219:Rad21l UTSW 2 151654588 splice site probably benign
R0382:Rad21l UTSW 2 151645443 missense probably damaging 1.00
R0413:Rad21l UTSW 2 151651931 missense probably benign
R0511:Rad21l UTSW 2 151649069 splice site probably benign
R1555:Rad21l UTSW 2 151658428 missense probably benign 0.03
R1606:Rad21l UTSW 2 151654686 missense probably damaging 1.00
R1696:Rad21l UTSW 2 151668527 missense probably damaging 1.00
R1951:Rad21l UTSW 2 151655259 missense probably benign 0.04
R1999:Rad21l UTSW 2 151654701 critical splice acceptor site probably null
R2060:Rad21l UTSW 2 151645429 missense probably benign 0.21
R2068:Rad21l UTSW 2 151668007 missense probably damaging 1.00
R3037:Rad21l UTSW 2 151660780 missense probably damaging 1.00
R4805:Rad21l UTSW 2 151668007 missense probably damaging 1.00
R5185:Rad21l UTSW 2 151657462 missense probably benign 0.01
R5388:Rad21l UTSW 2 151653483 missense probably benign
R5504:Rad21l UTSW 2 151668437 missense probably damaging 1.00
R5530:Rad21l UTSW 2 151657510 missense probably benign 0.00
R6113:Rad21l UTSW 2 151657478 missense probably damaging 0.98
R6233:Rad21l UTSW 2 151653542 missense probably benign
R7096:Rad21l UTSW 2 151667920 missense probably benign 0.31
R7337:Rad21l UTSW 2 151658445 missense probably damaging 1.00
R7822:Rad21l UTSW 2 151655125 missense probably benign
R8315:Rad21l UTSW 2 151655240 missense probably benign 0.00
R8368:Rad21l UTSW 2 151653470 missense probably benign
R8673:Rad21l UTSW 2 151660798 missense possibly damaging 0.77
R8698:Rad21l UTSW 2 151645453 missense probably damaging 1.00
R8769:Rad21l UTSW 2 151667918 missense probably benign 0.05
R9308:Rad21l UTSW 2 151649129 missense probably benign 0.07
Z1088:Rad21l UTSW 2 151668019 missense probably damaging 1.00
Z1176:Rad21l UTSW 2 151655232 missense probably damaging 0.99
Posted On 2016-08-02