Incidental Mutation 'R6917:Rad51d'
ID 539406
Institutional Source Beutler Lab
Gene Symbol Rad51d
Ensembl Gene ENSMUSG00000018841
Gene Name RAD51 paralog D
Synonyms Rad51l3, R51H3
MMRRC Submission 045038-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6917 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 82767260-82781440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 82770159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 199 (R199Q)
Ref Sequence ENSEMBL: ENSMUSP00000021033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018985] [ENSMUST00000021033] [ENSMUST00000092844] [ENSMUST00000100718] [ENSMUST00000135963] [ENSMUST00000146053]
AlphaFold O55230
Predicted Effect possibly damaging
Transcript: ENSMUST00000018985
AA Change: R253Q

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000018985
Gene: ENSMUSG00000018841
AA Change: R253Q

DomainStartEndE-ValueType
PDB:2KZ3|A 1 83 2e-27 PDB
AAA 99 274 1.5e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000021033
AA Change: R199Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021033
Gene: ENSMUSG00000018841
AA Change: R199Q

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 possibly damaging
Transcript: ENSMUST00000092844
AA Change: R208Q

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000090520
Gene: ENSMUSG00000018841
AA Change: R208Q

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 silent
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
Meta Mutation Damage Score 0.1083 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.6%
Validation Efficiency 96% (45/47)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,437,684 (GRCm39) probably null Het
Adcy2 A T 13: 68,768,876 (GRCm39) M1084K possibly damaging Het
Ak1 A G 2: 32,521,164 (GRCm39) Y95C possibly damaging Het
Akap6 A G 12: 53,115,951 (GRCm39) E1018G probably null Het
Ccdc175 A G 12: 72,231,679 (GRCm39) S27P probably damaging Het
Ddx31 C T 2: 28,782,421 (GRCm39) T588I probably damaging Het
Dmxl1 T C 18: 49,997,215 (GRCm39) W504R probably damaging Het
Echs1 T G 7: 139,689,924 (GRCm39) M239L probably benign Het
Eno1b A G 18: 48,180,656 (GRCm39) D278G probably benign Het
Eno3 A G 11: 70,552,262 (GRCm39) T305A probably benign Het
Gm5591 T A 7: 38,221,614 (GRCm39) S152C probably damaging Het
Gngt1 A G 6: 3,996,680 (GRCm39) D42G probably benign Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
H2-Aa T C 17: 34,502,681 (GRCm39) T79A probably damaging Het
Ice1 A T 13: 70,743,013 (GRCm39) Y2116N probably damaging Het
Kdm6b A G 11: 69,297,419 (GRCm39) M311T probably benign Het
L1td1 T C 4: 98,622,268 (GRCm39) F277L probably benign Het
Lamp1 T C 8: 13,222,563 (GRCm39) I249T probably damaging Het
Ldb3 G A 14: 34,277,321 (GRCm39) A351V probably null Het
Lmo7 A G 14: 102,155,446 (GRCm39) E996G probably damaging Het
Lsr T C 7: 30,657,721 (GRCm39) D413G possibly damaging Het
Magel2 CCCTCCTCCTCCTCCTCCTCCT CCCTCCTCCTCCTCCTCCT 7: 62,027,592 (GRCm39) probably benign Het
Myo7a T C 7: 97,744,970 (GRCm39) E290G possibly damaging Het
Nos2 C T 11: 78,842,053 (GRCm39) T735M possibly damaging Het
Or10ak12 A T 4: 118,666,326 (GRCm39) L245H probably damaging Het
Or11h6 A G 14: 50,880,680 (GRCm39) K314R possibly damaging Het
Or8g36 T A 9: 39,422,495 (GRCm39) I174L probably damaging Het
Pik3c2g T C 6: 139,841,899 (GRCm39) L768P probably benign Het
Plod2 T A 9: 92,475,823 (GRCm39) V302D possibly damaging Het
Ptgdr A T 14: 45,096,067 (GRCm39) V215E possibly damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Rtel1 ATT ATTTT 2: 180,980,070 (GRCm39) probably null Het
Sgip1 A G 4: 102,825,388 (GRCm39) R772G probably damaging Het
Slc19a2 C A 1: 164,088,578 (GRCm39) T141N probably damaging Het
Sp4 G T 12: 118,262,908 (GRCm39) N379K probably damaging Het
Thrap3 A G 4: 126,074,285 (GRCm39) probably benign Het
Thumpd2 T G 17: 81,351,543 (GRCm39) I293L probably benign Het
Tjp1 A G 7: 64,949,436 (GRCm39) S1649P probably damaging Het
Tssk4 A G 14: 55,889,864 (GRCm39) S326G probably benign Het
Txndc9 A C 1: 38,034,887 (GRCm39) S6A probably benign Het
Uhrf1 T C 17: 56,616,574 (GRCm39) Y131H probably damaging Het
Vnn3 A G 10: 23,741,832 (GRCm39) D379G possibly damaging Het
Vsig2 T A 9: 37,452,745 (GRCm39) S105T probably benign Het
Zfp445 A T 9: 122,691,359 (GRCm39) probably null Het
Zfp654 A T 16: 64,606,834 (GRCm39) M456K probably damaging Het
Other mutations in Rad51d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Rad51d APN 11 82,780,572 (GRCm39) missense probably damaging 1.00
IGL02755:Rad51d APN 11 82,772,458 (GRCm39) missense probably benign 0.05
IGL03270:Rad51d APN 11 82,772,420 (GRCm39) splice site probably benign
spew UTSW 11 82,770,159 (GRCm39) missense probably damaging 0.99
R0179:Rad51d UTSW 11 82,780,824 (GRCm39) missense possibly damaging 0.90
R1440:Rad51d UTSW 11 82,781,179 (GRCm39) nonsense probably null
R1771:Rad51d UTSW 11 82,774,764 (GRCm39) missense probably damaging 1.00
R2106:Rad51d UTSW 11 82,770,134 (GRCm39) missense probably damaging 1.00
R2340:Rad51d UTSW 11 82,772,647 (GRCm39) missense probably damaging 1.00
R5396:Rad51d UTSW 11 82,781,196 (GRCm39) missense possibly damaging 0.90
R6941:Rad51d UTSW 11 82,780,623 (GRCm39) missense probably damaging 0.99
R8063:Rad51d UTSW 11 82,780,597 (GRCm39) missense probably benign 0.04
R8910:Rad51d UTSW 11 82,773,793 (GRCm39) missense probably damaging 0.97
R8923:Rad51d UTSW 11 82,773,798 (GRCm39) missense probably damaging 1.00
R9723:Rad51d UTSW 11 82,781,162 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GGCATGGAAACCACTCTCTC -3'
(R):5'- AGCACTGAGGCTTTGTGGAG -3'

Sequencing Primer
(F):5'- TGGAAACCACTCTCTCCAGGG -3'
(R):5'- AGAGCTGGGTGCAAGCC -3'
Posted On 2018-11-06