Incidental Mutation 'IGL03270:Rad51d'
ID415235
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rad51d
Ensembl Gene ENSMUSG00000018841
Gene NameRAD51 paralog D
SynonymsR51H3, Rad51d
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03270
Quality Score
Status
Chromosome11
Chromosomal Location82876434-82890614 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 82881594 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117401 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018985] [ENSMUST00000021033] [ENSMUST00000092844] [ENSMUST00000100718] [ENSMUST00000135963] [ENSMUST00000146053]
Predicted Effect probably benign
Transcript: ENSMUST00000018985
SMART Domains Protein: ENSMUSP00000018985
Gene: ENSMUSG00000018841

DomainStartEndE-ValueType
PDB:2KZ3|A 1 83 2e-27 PDB
AAA 99 274 1.5e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000021033
SMART Domains Protein: ENSMUSP00000021033
Gene: ENSMUSG00000018841

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
low complexity region 49 59 N/A INTRINSIC
Pfam:Rad51 64 249 3e-15 PFAM
Pfam:AAA_25 69 200 2e-12 PFAM
Pfam:KaiC 82 148 1.4e-10 PFAM
Pfam:AAA_19 93 168 6.7e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000092844
SMART Domains Protein: ENSMUSP00000090520
Gene: ENSMUSG00000018841

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
low complexity region 49 59 N/A INTRINSIC
Pfam:Rad51 66 130 2.4e-7 PFAM
Pfam:KaiC 82 129 8e-8 PFAM
Pfam:Rad51 115 274 8.5e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100718
SMART Domains Protein: ENSMUSP00000098284
Gene: ENSMUSG00000018841

DomainStartEndE-ValueType
PDB:2KZ3|A 1 83 5e-30 PDB
SCOP:d1b22a_ 10 48 2e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135963
SMART Domains Protein: ENSMUSP00000122477
Gene: ENSMUSG00000018841

DomainStartEndE-ValueType
low complexity region 28 40 N/A INTRINSIC
low complexity region 49 59 N/A INTRINSIC
Pfam:Rad51 64 219 7e-18 PFAM
Pfam:AAA_25 69 226 2.6e-15 PFAM
Pfam:KaiC 82 216 5.7e-12 PFAM
Pfam:AAA_19 93 168 1.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146053
SMART Domains Protein: ENSMUSP00000117401
Gene: ENSMUSG00000018841

DomainStartEndE-ValueType
PDB:2KZ3|A 1 48 1e-13 PDB
SCOP:d1b22a_ 10 48 7e-5 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene belongs to the Rad51 gene family whose products play a major role in homologous recombination and DNA repair. The encoded protein interacts with other proteins of this family, including Rad51b, Rad51c and Xrcc2, and plays an essential role in both DNA repair and telomere maintenance. In humans, germline mutations in this gene may be associated with predisposition to ovarian cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos before E11.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ctnnd1 A T 2: 84,609,727 probably null Het
Fcmr A T 1: 130,876,042 R194S possibly damaging Het
Fmo2 A G 1: 162,882,026 F264S probably damaging Het
Gfra2 A G 14: 70,925,904 D209G possibly damaging Het
Gm4951 A G 18: 60,245,476 K28E probably benign Het
Hsd17b7 C T 1: 169,953,080 E320K probably damaging Het
Kifap3 T A 1: 163,848,733 M419K probably benign Het
Lgr6 A C 1: 134,997,704 I133S probably damaging Het
Med13l A C 5: 118,731,430 N811T probably damaging Het
Olfr1223 A G 2: 89,144,745 F93L probably damaging Het
Olfr420 T A 1: 174,159,553 M260K probably benign Het
Pappa2 T A 1: 158,765,067 D1580V possibly damaging Het
Ppp4r2 T G 6: 100,863,125 N72K probably damaging Het
Prr27 T C 5: 87,835,678 probably benign Het
Rel T C 11: 23,742,584 N483S probably benign Het
Scn9a A G 2: 66,484,014 F1776L probably damaging Het
Slco5a1 G A 1: 12,872,028 T798I probably benign Het
Ttn T C 2: 76,776,467 D18033G probably damaging Het
Vmn1r46 T A 6: 89,976,774 S202T probably damaging Het
Vmn2r110 T G 17: 20,583,516 M266L probably benign Het
Vmn2r26 A T 6: 124,050,819 D506V probably benign Het
Zbtb1 T C 12: 76,385,515 S92P possibly damaging Het
Other mutations in Rad51d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Rad51d APN 11 82889746 missense probably damaging 1.00
IGL02755:Rad51d APN 11 82881632 missense probably benign 0.05
spew UTSW 11 82879333 missense probably damaging 0.99
R0179:Rad51d UTSW 11 82889998 missense possibly damaging 0.90
R1440:Rad51d UTSW 11 82890353 nonsense probably null
R1771:Rad51d UTSW 11 82883938 missense probably damaging 1.00
R2106:Rad51d UTSW 11 82879308 missense probably damaging 1.00
R2340:Rad51d UTSW 11 82881821 missense probably damaging 1.00
R5396:Rad51d UTSW 11 82890370 missense possibly damaging 0.90
R6917:Rad51d UTSW 11 82879333 missense probably damaging 0.99
R6941:Rad51d UTSW 11 82889797 missense probably damaging 0.99
Posted On2016-08-02