Incidental Mutation 'R5469:Rad51ap1'
ID 457921
Institutional Source Beutler Lab
Gene Symbol Rad51ap1
Ensembl Gene ENSMUSG00000030346
Gene Name RAD51 associated protein 1
Synonyms 2510006L10Rik, RAB22
MMRRC Submission 043030-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5469 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 126900378-126916664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 126905190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 107 (S107N)
Ref Sequence ENSEMBL: ENSMUSP00000107839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112220] [ENSMUST00000112221] [ENSMUST00000144954] [ENSMUST00000202897]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000112220
AA Change: S107N

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107839
Gene: ENSMUSG00000030346
AA Change: S107N

DomainStartEndE-ValueType
low complexity region 179 204 N/A INTRINSIC
low complexity region 211 221 N/A INTRINSIC
low complexity region 289 303 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112221
AA Change: S107N

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107841
Gene: ENSMUSG00000030346
AA Change: S107N

DomainStartEndE-ValueType
low complexity region 180 205 N/A INTRINSIC
low complexity region 212 222 N/A INTRINSIC
Pfam:RAD51_interact 293 331 1.9e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123837
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141212
Predicted Effect probably benign
Transcript: ENSMUST00000144954
SMART Domains Protein: ENSMUSP00000122978
Gene: ENSMUSG00000030346

DomainStartEndE-ValueType
low complexity region 121 146 N/A INTRINSIC
low complexity region 153 163 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202191
Predicted Effect probably benign
Transcript: ENSMUST00000202897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202835
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201760
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Allc A T 12: 28,605,305 (GRCm39) N331K probably benign Het
Anapc1 G T 2: 128,517,621 (GRCm39) S341* probably null Het
Cacna1e T C 1: 154,319,683 (GRCm39) E1339G probably damaging Het
Cacna2d1 T A 5: 16,557,676 (GRCm39) I702N probably damaging Het
Casp2 C A 6: 42,246,268 (GRCm39) H209N probably benign Het
Casr A G 16: 36,330,392 (GRCm39) V314A probably benign Het
Ccne2 A T 4: 11,201,353 (GRCm39) R294* probably null Het
Cd180 T A 13: 102,841,342 (GRCm39) H129Q probably benign Het
Chst10 A T 1: 38,904,608 (GRCm39) Y362N probably damaging Het
Ctnna1 T A 18: 35,372,573 (GRCm39) D509E probably benign Het
Ctsh G T 9: 89,942,564 (GRCm39) probably null Het
Dhx29 C T 13: 113,081,073 (GRCm39) A369V possibly damaging Het
Enox1 A G 14: 77,830,414 (GRCm39) T340A probably benign Het
Fam135b T A 15: 71,317,892 (GRCm39) T1357S probably benign Het
Flt3 A T 5: 147,291,893 (GRCm39) S544T possibly damaging Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Gsap A T 5: 21,495,542 (GRCm39) Y831F possibly damaging Het
Hnrnpr C T 4: 136,046,745 (GRCm39) T142M probably damaging Het
Jak3 A G 8: 72,131,417 (GRCm39) D94G probably benign Het
Ktn1 A T 14: 47,928,377 (GRCm39) E579D probably damaging Het
Lama2 G A 10: 26,917,185 (GRCm39) P2247S possibly damaging Het
Lrba C T 3: 86,449,948 (GRCm39) S2089F probably damaging Het
Map1b C T 13: 99,565,846 (GRCm39) V2292M unknown Het
Mphosph10 A T 7: 64,039,193 (GRCm39) probably null Het
Pappa C T 4: 65,123,389 (GRCm39) T908M probably benign Het
Pdcd10 T A 3: 75,428,364 (GRCm39) K150* probably null Het
Piezo2 A T 18: 63,160,935 (GRCm39) I2275N probably damaging Het
Pmvk T C 3: 89,374,989 (GRCm39) probably null Het
Pold2 G A 11: 5,823,048 (GRCm39) P376S probably damaging Het
Prtg A T 9: 72,799,247 (GRCm39) Q759L probably damaging Het
Rfk T A 19: 17,372,566 (GRCm39) N29K probably damaging Het
Ror2 T C 13: 53,271,375 (GRCm39) M315V probably benign Het
Rrn3 A G 16: 13,630,964 (GRCm39) E600G probably benign Het
Ryk A G 9: 102,784,153 (GRCm39) Y593C possibly damaging Het
Slc30a3 T A 5: 31,246,004 (GRCm39) D193V probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Srbd1 C A 17: 86,427,370 (GRCm39) C421F possibly damaging Het
Sstr5 A C 17: 25,711,043 (GRCm39) V62G probably damaging Het
Tfip11 G A 5: 112,482,191 (GRCm39) W483* probably null Het
Tlk1 T C 2: 70,552,012 (GRCm39) H553R probably benign Het
Tnc T C 4: 63,932,162 (GRCm39) probably null Het
Trav12-1 A G 14: 53,775,930 (GRCm39) T27A probably damaging Het
Usp9y G A Y: 1,364,714 (GRCm39) T1033I probably benign Het
V1ra8 C T 6: 90,180,186 (GRCm39) H130Y probably benign Het
Vmn2r77 A T 7: 86,451,271 (GRCm39) M386L probably benign Het
Other mutations in Rad51ap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01576:Rad51ap1 APN 6 126,905,123 (GRCm39) missense probably damaging 1.00
IGL02371:Rad51ap1 APN 6 126,904,527 (GRCm39) missense probably benign 0.14
IGL02398:Rad51ap1 APN 6 126,905,114 (GRCm39) missense probably damaging 1.00
R0265:Rad51ap1 UTSW 6 126,901,160 (GRCm39) makesense probably null
R0359:Rad51ap1 UTSW 6 126,911,704 (GRCm39) missense probably damaging 1.00
R0488:Rad51ap1 UTSW 6 126,911,723 (GRCm39) missense possibly damaging 0.94
R1527:Rad51ap1 UTSW 6 126,905,130 (GRCm39) splice site probably null
R3018:Rad51ap1 UTSW 6 126,916,485 (GRCm39) start gained probably null
R4464:Rad51ap1 UTSW 6 126,911,731 (GRCm39) missense possibly damaging 0.94
R4691:Rad51ap1 UTSW 6 126,904,516 (GRCm39) missense probably benign
R5314:Rad51ap1 UTSW 6 126,905,121 (GRCm39) missense probably damaging 1.00
R7177:Rad51ap1 UTSW 6 126,901,983 (GRCm39) missense probably benign 0.08
R8026:Rad51ap1 UTSW 6 126,911,675 (GRCm39) critical splice donor site probably null
R8356:Rad51ap1 UTSW 6 126,901,879 (GRCm39) critical splice donor site probably null
R9652:Rad51ap1 UTSW 6 126,904,526 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CTGTTAACAAGGAAGGCTGTTC -3'
(R):5'- AGTGTACGTCTGGAGTCTGAC -3'

Sequencing Primer
(F):5'- ATCACTGGCTACACTGCA -3'
(R):5'- AGTCTGACTGTGAACCTGAGTC -3'
Posted On 2017-02-16