Incidental Mutation 'IGL02457:Rad51c'
ID294418
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rad51c
Ensembl Gene ENSMUSG00000007646
Gene NameRAD51 paralog C
SynonymsRad51l2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02457
Quality Score
Status
Chromosome11
Chromosomal Location87376645-87404954 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 87380855 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 344 (S344P)
Ref Sequence ENSEMBL: ENSMUSP00000007790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007790] [ENSMUST00000067692] [ENSMUST00000129400] [ENSMUST00000153073]
Predicted Effect possibly damaging
Transcript: ENSMUST00000007790
AA Change: S344P

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000007790
Gene: ENSMUSG00000007646
AA Change: S344P

DomainStartEndE-ValueType
low complexity region 10 26 N/A INTRINSIC
Pfam:Rad51 91 359 1.7e-32 PFAM
Pfam:AAA_25 97 298 1e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000067692
AA Change: S326P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000064079
Gene: ENSMUSG00000007646
AA Change: S326P

DomainStartEndE-ValueType
Pfam:Rad51 73 341 1.9e-32 PFAM
Pfam:AAA_25 79 280 7.6e-10 PFAM
Pfam:KaiC 91 137 2e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129400
SMART Domains Protein: ENSMUSP00000121928
Gene: ENSMUSG00000007646

DomainStartEndE-ValueType
PDB:1PZN|G 10 125 2e-9 PDB
SCOP:d1g8ya_ 91 125 9e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153073
SMART Domains Protein: ENSMUSP00000122811
Gene: ENSMUSG00000007646

DomainStartEndE-ValueType
Pfam:Rad51 73 315 3.2e-28 PFAM
Pfam:AAA_25 79 280 2.1e-10 PFAM
Pfam:KaiC 91 137 1.7e-8 PFAM
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 is a member of the RAD51 family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality. Mice carrying a null and a hypomorphic allele have partial penetrance of male and female infertility due to defects in meiosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b A G 2: 181,494,334 D343G probably benign Het
Acot10 T C 15: 20,666,143 S171G possibly damaging Het
Actr3b T C 5: 25,849,162 probably null Het
Adamts17 T C 7: 67,027,814 M492T probably damaging Het
Akap4 A C X: 7,077,468 N670T probably benign Het
Atrip A G 9: 109,065,231 S55P possibly damaging Het
Bend3 A T 10: 43,509,950 E113V probably damaging Het
Ccdc158 A C 5: 92,650,048 I411S probably damaging Het
Cd163l1 G A 7: 140,220,395 G30S probably benign Het
Cfap97 G T 8: 46,170,278 C235F possibly damaging Het
Chil4 T C 3: 106,214,399 N45D probably benign Het
D430041D05Rik A G 2: 104,249,345 V1131A probably damaging Het
Defb38 T C 8: 19,026,536 probably benign Het
Dnah10 T A 5: 124,789,796 W2260R probably damaging Het
Ecsit A G 9: 22,078,204 S14P probably damaging Het
Eif3l T C 15: 79,078,096 F106L probably benign Het
Erich5 G T 15: 34,470,853 G76V probably damaging Het
Evpl A G 11: 116,230,113 L432P possibly damaging Het
Fbxw10 T C 11: 62,874,982 F698L probably damaging Het
Frem2 A T 3: 53,521,049 S2866T probably damaging Het
Fuca1 G A 4: 135,934,762 V334I probably benign Het
Hprt T A X: 53,002,133 H60Q probably benign Het
Kirrel2 T C 7: 30,452,740 N481S probably damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Lilr4b T A 10: 51,481,238 Y57N probably benign Het
Lix1l A G 3: 96,614,476 Y126C probably damaging Het
Lox T C 18: 52,521,316 D347G probably damaging Het
Mak16 C T 8: 31,164,725 R147Q possibly damaging Het
Ndst2 G A 14: 20,729,554 A206V possibly damaging Het
Olfr356 A T 2: 36,937,748 I210F probably damaging Het
Olfr450 T A 6: 42,818,242 I257N probably damaging Het
Phldb1 T C 9: 44,716,474 M225V probably benign Het
Pofut1 C T 2: 153,248,596 Q137* probably null Het
Polr2a T C 11: 69,743,250 probably benign Het
Prdm5 T A 6: 65,881,116 L388Q probably damaging Het
Sdk1 C T 5: 141,953,016 P398L probably damaging Het
Sec63 G A 10: 42,801,733 probably benign Het
Sgo1 A T 17: 53,676,961 L463Q probably damaging Het
Slc5a6 A G 5: 31,040,658 L291P probably damaging Het
Smarcb1 T C 10: 75,921,371 T9A probably benign Het
Sp3 A G 2: 72,971,469 W67R probably damaging Het
Ssxb9 A C X: 21,174,995 S23A probably benign Het
Syne1 A G 10: 5,342,167 L1367S probably damaging Het
Tbc1d23 T A 16: 57,170,391 I690F probably damaging Het
Tdgf1 C T 9: 110,942,623 C32Y probably damaging Het
Tmed5 A T 5: 108,124,550 S227R probably benign Het
Tnrc6c T A 11: 117,722,977 S814T probably benign Het
Trbv2 C T 6: 41,047,971 T107I probably benign Het
Trpm6 T C 19: 18,825,791 V866A probably damaging Het
Trpm6 A T 19: 18,827,398 K905* probably null Het
Ttn A G 2: 76,709,310 V34444A probably benign Het
Vmn1r86 C T 7: 13,102,780 M56I probably benign Het
Vmn2r17 A C 5: 109,453,146 D770A probably damaging Het
Wnk4 T C 11: 101,269,563 probably benign Het
Xaf1 T C 11: 72,303,431 M46T possibly damaging Het
Other mutations in Rad51c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03096:Rad51c APN 11 87388646 missense probably damaging 1.00
IGL03493:Rad51c APN 11 87397753 missense probably benign 0.00
R0415:Rad51c UTSW 11 87397655 missense probably damaging 0.99
R1875:Rad51c UTSW 11 87388643 missense probably damaging 0.99
R2098:Rad51c UTSW 11 87402763 missense probably benign
R4172:Rad51c UTSW 11 87402746 missense probably damaging 1.00
R4798:Rad51c UTSW 11 87395378 missense probably damaging 1.00
R5054:Rad51c UTSW 11 87397754 missense probably benign 0.06
R5182:Rad51c UTSW 11 87397719 missense possibly damaging 0.85
R5381:Rad51c UTSW 11 87397633 missense probably benign 0.00
R6087:Rad51c UTSW 11 87380879 missense probably benign 0.02
R7066:Rad51c UTSW 11 87402676 missense possibly damaging 0.56
Posted On2015-04-16