Incidental Mutation 'IGL02799:Faap100'
ID 392296
Institutional Source Beutler Lab
Gene Symbol Faap100
Ensembl Gene ENSMUSG00000025384
Gene Name Fanconi anemia core complex associated protein 100
Synonyms 2310003H01Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.378) question?
Stock # IGL02799 (G1)
Quality Score 130
Status Validated
Chromosome 11
Chromosomal Location 120260388-120269572 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120261561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 823 (L823P)
Ref Sequence ENSEMBL: ENSMUSP00000026448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026445] [ENSMUST00000026448]
AlphaFold A2ACJ2
Predicted Effect probably benign
Transcript: ENSMUST00000026445
SMART Domains Protein: ENSMUSP00000026445
Gene: ENSMUSG00000025380

DomainStartEndE-ValueType
Pfam:Fascin 20 133 4.9e-34 PFAM
Pfam:Fascin 141 254 1.2e-26 PFAM
Pfam:Fascin 266 376 8.9e-35 PFAM
Pfam:Fascin 389 492 4.1e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000026448
AA Change: L823P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026448
Gene: ENSMUSG00000025384
AA Change: L823P

DomainStartEndE-ValueType
Pfam:FANCAA 447 879 1.4e-196 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129203
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130476
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134771
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154826
Meta Mutation Damage Score 0.6596 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (67/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A G 6: 86,083,234 (GRCm39) N444S possibly damaging Het
Atp2b2 A T 6: 113,739,813 (GRCm39) Y823* probably null Het
Atp2c1 A C 9: 105,290,242 (GRCm39) probably benign Het
Capns1 A T 7: 29,891,644 (GRCm39) D133E probably benign Het
Cast A G 13: 74,884,871 (GRCm39) V361A probably damaging Het
Cd69 G A 6: 129,245,223 (GRCm39) probably benign Het
Celsr2 T A 3: 108,321,378 (GRCm39) D478V probably damaging Het
Cenpf T C 1: 189,391,849 (GRCm39) E661G probably damaging Het
Chrna1 A G 2: 73,404,985 (GRCm39) probably benign Het
Clec5a C A 6: 40,554,983 (GRCm39) V138F probably damaging Het
Ctsj T A 13: 61,151,634 (GRCm39) I95F probably benign Het
Dcaf1 T A 9: 106,735,139 (GRCm39) S696T probably benign Het
Dcp1a T C 14: 30,241,636 (GRCm39) probably null Het
Dnajc14 C T 10: 128,642,725 (GRCm39) P216S possibly damaging Het
Dst T C 1: 34,218,930 (GRCm39) I1790T possibly damaging Het
Ehmt1 A T 2: 24,705,818 (GRCm39) H789Q probably damaging Het
Exoc7 A T 11: 116,192,007 (GRCm39) L188Q probably damaging Het
Fdxacb1 T A 9: 50,683,896 (GRCm39) S620T probably benign Het
Fhl2 C T 1: 43,167,562 (GRCm39) R177Q probably benign Het
Gars1 C A 6: 55,040,084 (GRCm39) T337K probably damaging Het
Ggta1 A T 2: 35,312,211 (GRCm39) F56I probably damaging Het
Gm10715 A C 9: 3,038,062 (GRCm39) probably benign Het
Gpr108 T A 17: 57,544,482 (GRCm39) I343F probably damaging Het
Gpr12 T A 5: 146,520,629 (GRCm39) I98F possibly damaging Het
Hk2 A G 6: 82,737,219 (GRCm39) L3P probably damaging Het
Imp4 C A 1: 34,479,258 (GRCm39) probably benign Het
Insrr G A 3: 87,720,888 (GRCm39) V1049M probably damaging Het
Klhl24 T C 16: 19,933,331 (GRCm39) V314A probably damaging Het
Krt32 A T 11: 99,978,733 (GRCm39) V107D possibly damaging Het
Krtap5-1 G A 7: 141,850,242 (GRCm39) Q189* probably null Het
Lrrc9 A G 12: 72,553,178 (GRCm39) E1360G probably damaging Het
Mdc1 G T 17: 36,157,083 (GRCm39) L163F possibly damaging Het
Mroh1 T G 15: 76,276,661 (GRCm39) probably null Het
Myh8 A G 11: 67,192,418 (GRCm39) probably benign Het
Ndufab1 A T 7: 121,692,949 (GRCm39) probably benign Het
Nek3 A G 8: 22,648,735 (GRCm39) probably benign Het
Ngly1 A T 14: 16,260,636 (GRCm38) I107L probably benign Het
Nkain4 A T 2: 180,577,728 (GRCm39) probably null Het
Nsd2 T A 5: 34,022,132 (GRCm39) probably benign Het
Or4n4 A G 14: 50,518,801 (GRCm39) I303T probably benign Het
Or5e1 A T 7: 108,354,830 (GRCm39) M256L probably benign Het
Or5t9 A T 2: 86,659,300 (GRCm39) H68L probably damaging Het
Or7e166 T A 9: 19,624,314 (GRCm39) Y64N probably damaging Het
Or8b12 T A 9: 37,657,805 (GRCm39) I125N probably damaging Het
Pcnt G A 10: 76,248,417 (GRCm39) Q901* probably null Het
Pctp C A 11: 89,881,913 (GRCm39) W81C probably damaging Het
Pik3r5 A T 11: 68,386,773 (GRCm39) I801F probably damaging Het
Ptprj A T 2: 90,299,942 (GRCm39) N193K probably benign Het
Rab11fip1 A T 8: 27,642,788 (GRCm39) D670E probably benign Het
Racgap1 T C 15: 99,530,628 (GRCm39) K201E probably benign Het
Ranbp2 T C 10: 58,316,086 (GRCm39) F2269L probably damaging Het
Rint1 C A 5: 24,024,478 (GRCm39) A760D possibly damaging Het
Ryr2 G A 13: 11,680,848 (GRCm39) P3166S probably damaging Het
Snap29 A G 16: 17,240,367 (GRCm39) N158D probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
St6galnac1 G T 11: 116,657,473 (GRCm39) probably benign Het
Strc G A 2: 121,209,717 (GRCm39) T202I probably damaging Het
Stxbp4 A G 11: 90,385,426 (GRCm39) probably null Het
Syne1 A T 10: 5,309,059 (GRCm39) M650K probably damaging Het
Tbc1d2b C T 9: 90,105,487 (GRCm39) probably benign Het
Tcfl5 A T 2: 180,280,419 (GRCm39) I328N possibly damaging Het
Tenm2 A G 11: 36,164,235 (GRCm39) Y337H probably damaging Het
Tgfbr2 T C 9: 115,939,204 (GRCm39) K233E possibly damaging Het
Tnk2 T C 16: 32,484,699 (GRCm39) probably benign Het
Trbv13-2 A G 6: 41,098,471 (GRCm39) probably benign Het
Tut4 T C 4: 108,370,725 (GRCm39) Y875H probably benign Het
Usp6nl T A 2: 6,432,360 (GRCm39) probably benign Het
Vmn2r62 A G 7: 42,437,396 (GRCm39) S363P possibly damaging Het
Vnn3 T C 10: 23,727,869 (GRCm39) I93T possibly damaging Het
Ylpm1 A G 12: 85,091,258 (GRCm39) D1108G probably damaging Het
Zbtb17 G A 4: 141,190,691 (GRCm39) G170S probably benign Het
Zfyve26 T C 12: 79,320,084 (GRCm39) E1087G probably benign Het
Other mutations in Faap100
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Faap100 APN 11 120,262,958 (GRCm39) missense probably damaging 1.00
IGL02954:Faap100 APN 11 120,262,957 (GRCm39) missense probably damaging 1.00
R0034:Faap100 UTSW 11 120,262,973 (GRCm39) missense probably benign 0.34
R0207:Faap100 UTSW 11 120,265,191 (GRCm39) missense probably damaging 1.00
R0432:Faap100 UTSW 11 120,264,702 (GRCm39) splice site probably benign
R0570:Faap100 UTSW 11 120,265,114 (GRCm39) missense possibly damaging 0.87
R0748:Faap100 UTSW 11 120,262,997 (GRCm39) missense probably damaging 0.97
R0782:Faap100 UTSW 11 120,267,530 (GRCm39) critical splice donor site probably null
R1218:Faap100 UTSW 11 120,269,166 (GRCm39) missense probably benign 0.06
R1612:Faap100 UTSW 11 120,267,914 (GRCm39) missense probably damaging 1.00
R1720:Faap100 UTSW 11 120,265,407 (GRCm39) missense probably damaging 1.00
R1758:Faap100 UTSW 11 120,268,059 (GRCm39) missense probably damaging 0.99
R2881:Faap100 UTSW 11 120,265,185 (GRCm39) missense probably damaging 1.00
R2893:Faap100 UTSW 11 120,265,451 (GRCm39) missense probably damaging 1.00
R3969:Faap100 UTSW 11 120,269,531 (GRCm39) start codon destroyed probably null 1.00
R4824:Faap100 UTSW 11 120,266,412 (GRCm39) splice site probably null
R4911:Faap100 UTSW 11 120,262,939 (GRCm39) missense probably benign 0.37
R5152:Faap100 UTSW 11 120,268,458 (GRCm39) missense possibly damaging 0.71
R5155:Faap100 UTSW 11 120,268,458 (GRCm39) missense possibly damaging 0.71
R5327:Faap100 UTSW 11 120,268,458 (GRCm39) missense possibly damaging 0.71
R5328:Faap100 UTSW 11 120,268,458 (GRCm39) missense possibly damaging 0.71
R5386:Faap100 UTSW 11 120,268,458 (GRCm39) missense possibly damaging 0.71
R5480:Faap100 UTSW 11 120,267,939 (GRCm39) missense probably damaging 1.00
R5541:Faap100 UTSW 11 120,268,458 (GRCm39) missense possibly damaging 0.71
R5629:Faap100 UTSW 11 120,267,837 (GRCm39) missense probably damaging 1.00
R5911:Faap100 UTSW 11 120,267,958 (GRCm39) missense possibly damaging 0.94
R6285:Faap100 UTSW 11 120,267,558 (GRCm39) missense probably damaging 1.00
R6350:Faap100 UTSW 11 120,265,406 (GRCm39) missense probably damaging 1.00
R6525:Faap100 UTSW 11 120,269,590 (GRCm39) splice site probably null
R7046:Faap100 UTSW 11 120,268,200 (GRCm39) missense possibly damaging 0.94
R7539:Faap100 UTSW 11 120,268,464 (GRCm39) missense possibly damaging 0.73
R7781:Faap100 UTSW 11 120,265,089 (GRCm39) missense probably benign 0.00
R8345:Faap100 UTSW 11 120,267,856 (GRCm39) missense possibly damaging 0.58
R8679:Faap100 UTSW 11 120,263,003 (GRCm39) missense probably damaging 1.00
R8715:Faap100 UTSW 11 120,265,299 (GRCm39) missense probably benign 0.13
R8942:Faap100 UTSW 11 120,267,856 (GRCm39) missense possibly damaging 0.58
R8956:Faap100 UTSW 11 120,268,185 (GRCm39) missense probably damaging 1.00
R9313:Faap100 UTSW 11 120,267,688 (GRCm39) missense probably damaging 1.00
R9590:Faap100 UTSW 11 120,269,545 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- AGCCTTAAGTATGTAACACACAGC -3'
(R):5'- AAGAAGGGGTCACTCCACAG -3'

Sequencing Primer
(F):5'- AGCCACACTGGTATGGTGG -3'
(R):5'- TCCACAGAGGAGCGGGAG -3'
Posted On 2016-06-09