Incidental Mutation 'R8356:Rad51ap1'
ID 660331
Institutional Source Beutler Lab
Gene Symbol Rad51ap1
Ensembl Gene ENSMUSG00000030346
Gene Name RAD51 associated protein 1
Synonyms 2510006L10Rik, RAB22
MMRRC Submission 067870-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8356 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 126900378-126916664 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 126901879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078521] [ENSMUST00000112220] [ENSMUST00000112220] [ENSMUST00000112220] [ENSMUST00000112221] [ENSMUST00000112221] [ENSMUST00000112221] [ENSMUST00000144954] [ENSMUST00000202897]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000078521
SMART Domains Protein: ENSMUSP00000077606
Gene: ENSMUSG00000030345

DomainStartEndE-ValueType
S_TKc 219 515 2.9e-84 SMART
low complexity region 555 573 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000112220
SMART Domains Protein: ENSMUSP00000107839
Gene: ENSMUSG00000030346

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 null
Transcript: ENSMUST00000112220
SMART Domains Protein: ENSMUSP00000107839
Gene: ENSMUSG00000030346

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 null
Transcript: ENSMUST00000112220
SMART Domains Protein: ENSMUSP00000107839
Gene: ENSMUSG00000030346

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 null
Transcript: ENSMUST00000112221
SMART Domains Protein: ENSMUSP00000107841
Gene: ENSMUSG00000030346

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 probably null
Transcript: ENSMUST00000112221
SMART Domains Protein: ENSMUSP00000107841
Gene: ENSMUSG00000030346

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 probably null
Transcript: ENSMUST00000112221
SMART Domains Protein: ENSMUSP00000107841
Gene: ENSMUSG00000030346

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 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 probably benign
Transcript: ENSMUST00000202897
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700069L16Rik T A 5: 113,861,868 (GRCm39) M1L unknown Het
Abcc9 A T 6: 142,536,096 (GRCm39) M1546K probably benign Het
Acbd3 T C 1: 180,553,881 (GRCm39) M72T probably benign Het
Adam6a T G 12: 113,509,757 (GRCm39) L710R probably benign Het
Aldh4a1 T C 4: 139,365,833 (GRCm39) S275P probably benign Het
Ap3d1 A T 10: 80,568,737 (GRCm39) L47Q probably damaging Het
Arhgap19 G A 19: 41,762,615 (GRCm39) R414C probably damaging Het
Ascc3 T C 10: 50,526,003 (GRCm39) S572P probably benign Het
Cdk10 G A 8: 123,955,096 (GRCm39) R78H probably benign Het
Celsr2 C T 3: 108,320,847 (GRCm39) R655H possibly damaging Het
Cntnap2 T A 6: 47,026,307 (GRCm39) H44Q probably benign Het
Cpped1 A T 16: 11,712,793 (GRCm39) C32* probably null Het
Ddi1 A G 9: 6,266,249 (GRCm39) V40A probably benign Het
Ddx50 T C 10: 62,457,287 (GRCm39) T588A probably benign Het
Degs2 A G 12: 108,658,223 (GRCm39) I252T possibly damaging Het
Dnah1 C T 14: 30,994,972 (GRCm39) V2762I probably benign Het
Dnah5 A G 15: 28,444,313 (GRCm39) D4037G probably benign Het
Dnah5 C T 15: 28,444,469 (GRCm39) A4089V probably null Het
Dthd1 A T 5: 63,007,081 (GRCm39) D594V probably damaging Het
Ehmt1 A T 2: 24,742,781 (GRCm39) M466K probably benign Het
Erich2 A T 2: 70,357,873 (GRCm39) probably null Het
Fam221b T C 4: 43,665,519 (GRCm39) D313G probably benign Het
Fbxl22 T C 9: 66,421,732 (GRCm39) D35G possibly damaging Het
Ggcx A G 6: 72,406,574 (GRCm39) E679G probably benign Het
Gm14295 A G 2: 176,501,307 (GRCm39) T266A probably benign Het
Hnrnpa1 A G 15: 103,150,529 (GRCm39) D160G probably null Het
Hnrnpul1 T C 7: 25,422,247 (GRCm39) probably benign Het
Hydin A G 8: 111,259,756 (GRCm39) E2576G possibly damaging Het
Ifit2 T A 19: 34,550,908 (GRCm39) C149* probably null Het
Il18rap T A 1: 40,564,084 (GRCm39) S67R probably benign Het
Kcnk4 T G 19: 6,903,668 (GRCm39) S294R probably benign Het
Kif21b A G 1: 136,100,683 (GRCm39) H1588R probably damaging Het
Klhl35 A T 7: 99,122,129 (GRCm39) S77C probably damaging Het
Lats2 A T 14: 57,934,867 (GRCm39) M228K probably damaging Het
Lrfn4 T C 19: 4,662,256 (GRCm39) D587G probably benign Het
Lrrd1 C A 5: 3,916,509 (GRCm39) T842K probably benign Het
Mafb G A 2: 160,208,125 (GRCm39) H158Y probably benign Het
Mapk8ip3 T A 17: 25,123,925 (GRCm39) E561D probably damaging Het
Mcemp1 A G 8: 3,717,542 (GRCm39) T158A probably damaging Het
Mst1r A T 9: 107,794,463 (GRCm39) E1214V probably damaging Het
Muc16 A G 9: 18,570,074 (GRCm39) I815T unknown Het
Ncoa6 T A 2: 155,248,172 (GRCm39) I1711L possibly damaging Het
Neo1 G A 9: 58,785,402 (GRCm39) T1408M probably damaging Het
Niban1 T A 1: 151,571,901 (GRCm39) V282D probably damaging Het
Nnt A C 13: 119,476,368 (GRCm39) F632C probably damaging Het
Nup210 G A 6: 91,051,330 (GRCm39) T351I probably benign Het
Or4f59 A G 2: 111,872,943 (GRCm39) S145P probably damaging Het
Or52e18 A G 7: 104,609,934 (GRCm39) S2P probably benign Het
P4ha1 C T 10: 59,191,185 (GRCm39) T364I probably damaging Het
Pcdhb11 T A 18: 37,555,252 (GRCm39) L194Q probably damaging Het
Pramel52-ps A G 5: 94,531,703 (GRCm39) K196E probably damaging Het
Rbm11 G A 16: 75,397,694 (GRCm39) R208K probably benign Het
Rps6ka1 T A 4: 133,587,368 (GRCm39) Q535L possibly damaging Het
Slc26a3 A G 12: 31,516,505 (GRCm39) D621G probably benign Het
Sox10 T G 15: 79,040,652 (GRCm39) E296A probably damaging Het
St3gal4 A C 9: 34,964,438 (GRCm39) V188G probably damaging Het
Trim34a A T 7: 103,910,178 (GRCm39) I327F probably damaging Het
Ttc28 G A 5: 111,381,207 (GRCm39) D1240N probably benign Het
Zc2hc1c A G 12: 85,337,471 (GRCm39) E376G probably damaging Het
Zfp423 G A 8: 88,509,910 (GRCm39) P77S probably damaging Het
Zfp560 A T 9: 20,260,231 (GRCm39) S210R 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
R5469:Rad51ap1 UTSW 6 126,905,190 (GRCm39) missense probably damaging 0.96
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
R9652:Rad51ap1 UTSW 6 126,904,526 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TCTATGATAATCATGGCTGTGACC -3'
(R):5'- ACATTATCTTCCTGCATGACAGTTG -3'

Sequencing Primer
(F):5'- AGGATGTCTCCATTTACTGCAG -3'
(R):5'- CTTCCTGCATGACAGTTGTTTTTATG -3'
Posted On 2021-01-18