Incidental Mutation 'IGL01576:Rad51ap1'
ID91242
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rad51ap1
Ensembl Gene ENSMUSG00000030346
Gene NameRAD51 associated protein 1
SynonymsRAB22, 2510006L10Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01576
Quality Score
Status
Chromosome6
Chromosomal Location126923050-126939587 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 126928160 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 129 (S129R)
Ref Sequence ENSEMBL: ENSMUSP00000107839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112220] [ENSMUST00000112221] [ENSMUST00000144954] [ENSMUST00000202897]
Predicted Effect probably damaging
Transcript: ENSMUST00000112220
AA Change: S129R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107839
Gene: ENSMUSG00000030346
AA Change: S129R

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 damaging
Transcript: ENSMUST00000112221
AA Change: S129R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107841
Gene: ENSMUSG00000030346
AA Change: S129R

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
AA Change: S70R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122978
Gene: ENSMUSG00000030346
AA Change: S70R

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: ENSMUST00000201760
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202835
Predicted Effect probably benign
Transcript: ENSMUST00000202897
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,554,330 probably benign Het
Ank3 A G 10: 69,980,291 E541G probably damaging Het
Arhgef5 A T 6: 43,274,028 D571V probably benign Het
Birc6 A G 17: 74,677,370 N4459S possibly damaging Het
Brsk2 T C 7: 141,981,555 I38T possibly damaging Het
Cacna2d4 A T 6: 119,281,641 R563* probably null Het
Car7 T A 8: 104,549,548 probably null Het
Chml T C 1: 175,687,705 T217A probably benign Het
Dnah7b T G 1: 46,268,653 N3042K probably damaging Het
Efcab2 T G 1: 178,437,392 probably benign Het
Espn T C 4: 152,123,717 E397G probably damaging Het
Fam20c A G 5: 138,807,339 T443A probably damaging Het
Fam221b T C 4: 43,666,227 E128G probably benign Het
Fat4 A G 3: 38,888,947 D663G probably damaging Het
Fndc10 T A 4: 155,694,976 V159D probably benign Het
Gm14496 A G 2: 181,991,371 Y49C possibly damaging Het
Gpr63 G T 4: 25,008,445 D390Y possibly damaging Het
Herc2 G A 7: 56,226,661 probably null Het
Igdcc3 A G 9: 65,177,870 T199A probably damaging Het
Ireb2 T C 9: 54,892,510 Y412H probably damaging Het
Lpin3 T C 2: 160,897,127 V285A probably benign Het
Mdga1 T C 17: 29,843,127 S443G possibly damaging Het
Med22 C T 2: 26,908,992 probably null Het
Mpp6 G A 6: 50,163,492 R164Q probably benign Het
Olfr1356 G T 10: 78,847,373 L181I possibly damaging Het
Pcnt T G 10: 76,368,822 D2583A probably damaging Het
Pkn3 G A 2: 30,087,042 R598Q probably damaging Het
Pnpla7 T C 2: 25,016,563 V646A probably damaging Het
Podxl A T 6: 31,524,384 V412D probably damaging Het
Relb T C 7: 19,612,601 I349V probably benign Het
Rorb C T 19: 18,957,334 G224D probably damaging Het
Slc40a1 T A 1: 45,909,597 I508F probably damaging Het
Tanc1 G A 2: 59,797,735 V619M probably damaging Het
Tgm7 A T 2: 121,101,033 D216E probably damaging Het
Tmem132e A G 11: 82,438,374 D493G probably damaging Het
Zfp110 T A 7: 12,849,671 C749S probably damaging Het
Zscan4d T C 7: 11,162,592 N284D possibly damaging Het
Other mutations in Rad51ap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02371:Rad51ap1 APN 6 126927564 missense probably benign 0.14
IGL02398:Rad51ap1 APN 6 126928151 missense probably damaging 1.00
R0265:Rad51ap1 UTSW 6 126924197 makesense probably null
R0359:Rad51ap1 UTSW 6 126934741 missense probably damaging 1.00
R0488:Rad51ap1 UTSW 6 126934760 missense possibly damaging 0.94
R1527:Rad51ap1 UTSW 6 126928167 splice site probably null
R3018:Rad51ap1 UTSW 6 126939522 start gained probably null
R4464:Rad51ap1 UTSW 6 126934768 missense possibly damaging 0.94
R4691:Rad51ap1 UTSW 6 126927553 missense probably benign
R5314:Rad51ap1 UTSW 6 126928158 missense probably damaging 1.00
R5469:Rad51ap1 UTSW 6 126928227 missense probably damaging 0.96
R7177:Rad51ap1 UTSW 6 126925020 missense probably benign 0.08
R8026:Rad51ap1 UTSW 6 126934712 critical splice donor site probably null
Posted On2013-12-09