Incidental Mutation 'R2252:Faap20'
ID 241736
Institutional Source Beutler Lab
Gene Symbol Faap20
Ensembl Gene ENSMUSG00000073684
Gene Name Fanconi anemia core complex associated protein 20
Synonyms 2610002J02Rik
MMRRC Submission 040252-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2252 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 155334259-155341144 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 155335010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 37 (E37A)
Ref Sequence ENSEMBL: ENSMUSP00000137116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097747] [ENSMUST00000105627] [ENSMUST00000148406] [ENSMUST00000178473]
AlphaFold Q3UN58
Predicted Effect possibly damaging
Transcript: ENSMUST00000097747
AA Change: E27A

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000095354
Gene: ENSMUSG00000073684
AA Change: E27A

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000105627
AA Change: E24A

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101252
Gene: ENSMUSG00000073684
AA Change: E24A

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126713
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126803
Predicted Effect unknown
Transcript: ENSMUST00000143709
AA Change: E10A
SMART Domains Protein: ENSMUSP00000121522
Gene: ENSMUSG00000073684
AA Change: E10A

DomainStartEndE-ValueType
Pfam:FANCA_interact 8 119 2.9e-46 PFAM
Pfam:UBZ_FAAP20 124 158 2.6e-23 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000148406
AA Change: S37R
Predicted Effect possibly damaging
Transcript: ENSMUST00000178473
AA Change: E37A

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000137116
Gene: ENSMUSG00000073684
AA Change: E37A

DomainStartEndE-ValueType
low complexity region 5 23 N/A INTRINSIC
Pfam:FANCA_interact 34 145 6.1e-45 PFAM
Pfam:UBZ_FAAP20 150 184 3e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156404
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice show seminiferous tubule and ovarian follicle degeneration, small litter sizes, and increased sensitivity to DNA crosslinkers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,380,061 (GRCm39) S79F probably damaging Het
Acaca G T 11: 84,262,358 (GRCm39) V1987L probably damaging Het
B3gnt3 A T 8: 72,145,462 (GRCm39) M302K probably damaging Het
BC048507 T C 13: 68,011,626 (GRCm39) M1T probably null Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Casp3 G T 8: 47,090,990 (GRCm39) W214L probably damaging Het
Cd180 A T 13: 102,842,906 (GRCm39) K651* probably null Het
Cdh15 T A 8: 123,584,161 (GRCm39) D87E probably damaging Het
Cldn24 G T 8: 48,275,363 (GRCm39) R62S probably benign Het
Cnot1 A G 8: 96,489,814 (GRCm39) V463A probably benign Het
Cspg4 C T 9: 56,805,330 (GRCm39) T2047I probably damaging Het
Cul2 A T 18: 3,399,876 (GRCm39) L3F probably damaging Het
Cwc27 A T 13: 104,768,237 (GRCm39) H419Q probably damaging Het
Dgkg A T 16: 22,441,010 (GRCm39) M1K probably null Het
Dock5 A T 14: 68,022,261 (GRCm39) L1171H probably damaging Het
Drc1 G T 5: 30,500,075 (GRCm39) V103F probably benign Het
Ep400 A T 5: 110,866,957 (GRCm39) N1062K unknown Het
Foxa2 A G 2: 147,886,086 (GRCm39) F243S probably damaging Het
Gzf1 T C 2: 148,525,856 (GRCm39) M109T probably damaging Het
Itch T A 2: 155,054,259 (GRCm39) M701K probably benign Het
Kpna1 T C 16: 35,841,939 (GRCm39) Y280H possibly damaging Het
L1td1 A G 4: 98,625,874 (GRCm39) probably null Het
Lrrc37a T C 11: 103,392,293 (GRCm39) Q1044R probably benign Het
Lrrc52 A T 1: 167,293,937 (GRCm39) I116N probably damaging Het
Mbd5 A G 2: 49,147,698 (GRCm39) E636G probably damaging Het
Mrpl40 T C 16: 18,694,125 (GRCm39) H29R probably benign Het
Nrip1 T C 16: 76,088,173 (GRCm39) Y1128C probably damaging Het
Or10d3 G T 9: 39,461,273 (GRCm39) A298D probably damaging Het
Or4g16 A G 2: 111,136,655 (GRCm39) Y35C probably damaging Het
Or5ak20 A G 2: 85,184,202 (GRCm39) S23P possibly damaging Het
Or8c8 A G 9: 38,165,126 (GRCm39) I135V probably benign Het
Pard3 A T 8: 128,337,080 (GRCm39) E1232V probably damaging Het
Pcif1 A G 2: 164,732,799 (GRCm39) E628G probably benign Het
Pcsk1 C A 13: 75,274,845 (GRCm39) A478D probably benign Het
Pkd1l2 T C 8: 117,784,177 (GRCm39) Y700C probably damaging Het
Pknox2 T C 9: 36,821,816 (GRCm39) N270D probably benign Het
Plcb2 T C 2: 118,554,246 (GRCm39) N69S probably benign Het
Reep1 T A 6: 71,733,426 (GRCm39) probably null Het
Sash1 A T 10: 8,605,741 (GRCm39) M883K probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Septin4 A G 11: 87,480,637 (GRCm39) N405D possibly damaging Het
Serpinb3b T C 1: 107,083,208 (GRCm39) I231M possibly damaging Het
Serping1 A G 2: 84,600,195 (GRCm39) S322P probably damaging Het
Slc7a2 T C 8: 41,358,658 (GRCm39) Y334H probably benign Het
Spink5 G T 18: 44,153,891 (GRCm39) E1013* probably null Het
Thoc3 A T 13: 54,615,646 (GRCm39) N139K probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tubb2b T A 13: 34,314,198 (GRCm39) I7F possibly damaging Het
Upf2 A G 2: 5,966,271 (GRCm39) D297G unknown Het
Vmn2r18 T C 5: 151,508,441 (GRCm39) I228V possibly damaging Het
Vmn2r98 A C 17: 19,300,698 (GRCm39) S567R probably benign Het
Vwa5a T C 9: 38,639,376 (GRCm39) I369T probably damaging Het
Yjefn3 A C 8: 70,342,095 (GRCm39) F42V probably damaging Het
Zfp472 A T 17: 33,195,257 (GRCm39) R69* probably null Het
Zfp536 T C 7: 37,178,814 (GRCm39) S200G probably benign Het
Zfp970 T A 2: 177,166,614 (GRCm39) probably null Het
Other mutations in Faap20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00591:Faap20 APN 4 155,335,067 (GRCm39) missense probably benign 0.25
IGL01887:Faap20 APN 4 155,340,657 (GRCm39) missense probably damaging 0.98
R2251:Faap20 UTSW 4 155,335,010 (GRCm39) missense possibly damaging 0.63
R5985:Faap20 UTSW 4 155,334,797 (GRCm39) intron probably benign
R7502:Faap20 UTSW 4 155,334,793 (GRCm39) missense
R9026:Faap20 UTSW 4 155,335,426 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- TCTAAGTGAGGTTCCTTCCCGG -3'
(R):5'- TAAGTCCCCATAAGGTCACAGC -3'

Sequencing Primer
(F):5'- TCCCGGTCTCTTACTATGGAC -3'
(R):5'- TAAGGTCACAGCCACCAAC -3'
Posted On 2014-10-16