Incidental Mutation 'IGL01545:Rad21l'
ID90295
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rad21l
Ensembl Gene ENSMUSG00000074704
Gene NameRAD21-like (S. pombe)
SynonymsGm14160
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01545
Quality Score
Status
Chromosome2
Chromosomal Location151645404-151668533 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 151655164 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 340 (D340E)
Ref Sequence ENSEMBL: ENSMUSP00000094174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096439] [ENSMUST00000180195]
Predicted Effect probably benign
Transcript: ENSMUST00000096439
AA Change: D340E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000094174
Gene: ENSMUSG00000074704
AA Change: D340E

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: D343E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000136918
Gene: ENSMUSG00000074704
AA Change: D343E

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik G A 11: 30,426,228 S213L probably benign Het
Adgrv1 A G 13: 81,466,184 I4030T possibly damaging Het
Ap4b1 G A 3: 103,812,827 R55H probably benign Het
Arap3 G A 18: 37,990,836 R377C probably damaging Het
Atp6v1h T A 1: 5,089,059 M55K probably benign Het
B3galt4 A C 17: 33,951,213 V17G probably benign Het
Cd79a A T 7: 24,901,266 M172L probably benign Het
Cry1 A T 10: 85,184,362 L37H possibly damaging Het
D430042O09Rik A G 7: 125,752,971 probably null Het
D5Ertd615e A T 5: 45,169,413 noncoding transcript Het
Dnah17 A T 11: 118,119,568 L308Q probably damaging Het
Dnah7a C T 1: 53,518,782 A2158T probably benign Het
Dusp2 A G 2: 127,337,775 T313A probably benign Het
Fam110c T C 12: 31,074,983 S315P probably damaging Het
Fcer2a G A 8: 3,683,598 R198* probably null Het
Fryl G A 5: 73,054,597 T2359M probably damaging Het
Gm14221 G A 2: 160,568,383 noncoding transcript Het
Gpc6 T G 14: 117,964,830 L484R probably damaging Het
Igdcc3 G A 9: 65,180,073 V298M probably damaging Het
Impg2 T A 16: 56,225,717 probably benign Het
Iqca T A 1: 90,045,642 M803L probably benign Het
Itga4 T C 2: 79,315,970 probably benign Het
Kidins220 T C 12: 25,040,460 F1141S possibly damaging Het
Kif7 A G 7: 79,702,278 I912T probably damaging Het
Klhl38 G A 15: 58,322,458 R292W probably damaging Het
Lama3 A G 18: 12,441,131 D590G probably benign Het
Map4k4 T C 1: 40,014,229 probably benign Het
Mbd4 A T 6: 115,850,797 D39E probably damaging Het
Mrm2 A G 5: 140,331,255 V8A probably benign Het
Myod1 A T 7: 46,377,115 E148V probably damaging Het
Olfr74 A C 2: 87,974,551 I38S probably benign Het
Pdcd10 A T 3: 75,541,168 F30I possibly damaging Het
Ptcd1 T A 5: 145,159,536 H249L probably damaging Het
Ptcd3 A T 6: 71,888,577 D451E probably benign Het
Rab44 C A 17: 29,147,377 S680R unknown Het
Ranbp2 T C 10: 58,478,881 F1808L possibly damaging Het
Rnf122 T C 8: 31,128,602 V126A probably damaging Het
Slc25a47 G T 12: 108,854,216 V49L probably benign Het
Slc36a2 T C 11: 55,184,807 probably null Het
Sorl1 G A 9: 42,043,956 R668W probably damaging Het
Tbx19 T A 1: 165,139,156 N383I possibly damaging Het
Tenm4 A G 7: 96,874,303 H1676R probably benign Het
Tgm5 G T 2: 121,052,808 R351S probably damaging Het
Tmem106b A G 6: 13,071,843 S34G probably benign Het
Trmo C T 4: 46,386,169 G119R probably damaging Het
Ubr4 G A 4: 139,442,829 probably benign Het
Wfdc11 A G 2: 164,665,445 probably null Het
Xrn2 T A 2: 147,038,179 I474K probably benign Het
Zfp827 A G 8: 79,070,434 K383R probably damaging 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
IGL02983:Rad21l APN 2 151655120 missense probably damaging 1.00
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
Z1088:Rad21l UTSW 2 151668019 missense probably damaging 1.00
Z1176:Rad21l UTSW 2 151655232 missense probably damaging 0.99
Posted On2013-12-03