Incidental Mutation 'R5541:Faap100'
ID 435981
Institutional Source Beutler Lab
Gene Symbol Faap100
Ensembl Gene ENSMUSG00000025384
Gene Name Fanconi anemia core complex associated protein 100
Synonyms 2310003H01Rik
MMRRC Submission 043099-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.378) question?
Stock # R5541 (G1)
Quality Score 193
Status Validated
Chromosome 11
Chromosomal Location 120260388-120269572 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120268458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 105 (E105V)
Ref Sequence ENSEMBL: ENSMUSP00000026448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026448] [ENSMUST00000044271] [ENSMUST00000103017]
AlphaFold A2ACJ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000026448
AA Change: E105V

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000026448
Gene: ENSMUSG00000025384
AA Change: E105V

DomainStartEndE-ValueType
Pfam:FANCAA 447 879 1.4e-196 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000044271
SMART Domains Protein: ENSMUSP00000035851
Gene: ENSMUSG00000039703

DomainStartEndE-ValueType
Pfam:UN_NPL4 1 80 1.1e-36 PFAM
Pfam:zf-NPL4 105 245 2.1e-64 PFAM
Pfam:NPL4 248 557 4.8e-129 PFAM
ZnF_RBZ 582 606 8.4e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103017
SMART Domains Protein: ENSMUSP00000099306
Gene: ENSMUSG00000039703

DomainStartEndE-ValueType
Pfam:UN_NPL4 1 80 7e-38 PFAM
Pfam:zf-NPL4 104 246 1.1e-61 PFAM
Pfam:NPL4 248 455 1.8e-87 PFAM
Pfam:NPL4 451 525 3e-15 PFAM
ZnF_RBZ 550 574 8.4e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134771
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137041
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148520
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154826
Meta Mutation Damage Score 0.0886 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.2%
Validation Efficiency 100% (63/63)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 87,061,808 (GRCm39) K86R probably benign Het
Abca13 T C 11: 9,241,545 (GRCm39) V1136A probably benign Het
Arfgap2 G A 2: 91,106,114 (GRCm39) R530H probably benign Het
Arhgap30 T C 1: 171,231,707 (GRCm39) probably null Het
Asb7 T C 7: 66,329,017 (GRCm39) R8G probably benign Het
Bod1l T C 5: 41,949,276 (GRCm39) N2949D probably benign Het
Ccdc86 T C 19: 10,925,918 (GRCm39) E227G probably damaging Het
Cercam A G 2: 29,765,641 (GRCm39) D261G probably benign Het
Chd9 A T 8: 91,778,132 (GRCm39) E2714D probably benign Het
Dcp1a T A 14: 30,224,796 (GRCm39) S126R probably damaging Het
Defa17 T A 8: 22,146,565 (GRCm39) C64S probably damaging Het
Depdc5 A T 5: 33,021,973 (GRCm39) probably benign Het
Dhx29 A G 13: 113,076,908 (GRCm39) N259S possibly damaging Het
Dnah6 A T 6: 73,169,971 (GRCm39) L323Q possibly damaging Het
Dnah9 T C 11: 66,036,162 (GRCm39) Y416C probably damaging Het
Fbxw15 T G 9: 109,394,498 (GRCm39) I106L probably benign Het
Flacc1 A G 1: 58,697,588 (GRCm39) M384T probably benign Het
Gm10610 A G 7: 83,198,614 (GRCm39) noncoding transcript Het
Gpr22 A G 12: 31,759,348 (GRCm39) F258S probably damaging Het
Grip1 A T 10: 119,908,623 (GRCm39) I618F probably damaging Het
Hspg2 C T 4: 137,247,862 (GRCm39) T1233I probably damaging Het
Hspg2 C A 4: 137,270,136 (GRCm39) Q2365K probably benign Het
Intu A G 3: 40,647,017 (GRCm39) probably null Het
Kdm1b T C 13: 47,232,672 (GRCm39) M714T probably damaging Het
Kif21a A G 15: 90,852,316 (GRCm39) M924T probably damaging Het
Klb A T 5: 65,536,577 (GRCm39) M636L probably benign Het
Klrb1a G A 6: 128,586,699 (GRCm39) H219Y probably benign Het
Macroh2a2 T C 10: 61,583,496 (GRCm39) I215V probably benign Het
Marchf10 C T 11: 105,280,957 (GRCm39) D443N probably damaging Het
Nos1 A G 5: 118,043,459 (GRCm39) E578G probably damaging Het
Or8b39 T C 9: 37,996,419 (GRCm39) C96R probably damaging Het
Or9i1 T C 19: 13,839,328 (GRCm39) I57T probably benign Het
Pard3b A G 1: 61,678,502 (GRCm39) Y34C probably damaging Het
Pcdh17 T A 14: 84,684,856 (GRCm39) V441E probably damaging Het
Pde6g A T 11: 120,338,998 (GRCm39) I64N probably damaging Het
Pdia4 C T 6: 47,773,571 (GRCm39) V593M probably damaging Het
Pnn T G 12: 59,118,716 (GRCm39) V433G possibly damaging Het
Rbak G A 5: 143,159,745 (GRCm39) S436F probably damaging Het
Rpl11 A G 4: 135,780,043 (GRCm39) probably benign Het
Ryr1 G T 7: 28,785,610 (GRCm39) Q1701K probably damaging Het
Scn1a T A 2: 66,154,977 (GRCm39) T661S probably benign Het
Smg1 T A 7: 117,756,386 (GRCm39) probably benign Het
St8sia2 T C 7: 73,616,648 (GRCm39) D109G probably benign Het
Stk-ps1 T A 17: 36,709,105 (GRCm39) noncoding transcript Het
Stxbp3-ps C T 19: 9,535,334 (GRCm39) noncoding transcript Het
Taf1d T A 9: 15,220,146 (GRCm39) F132I probably damaging Het
Tfap2b A G 1: 19,284,250 (GRCm39) S35G possibly damaging Het
Tnk2 C T 16: 32,488,341 (GRCm39) T198I probably benign Het
Trappc2b T C 11: 51,576,796 (GRCm39) H34R probably benign Het
Ube2q2 T A 9: 55,099,163 (GRCm39) V168E possibly damaging Het
Ucma A G 2: 4,986,141 (GRCm39) R105G probably benign Het
Vmn2r97 C T 17: 19,148,617 (GRCm39) Q171* probably null Het
Wapl T C 14: 34,452,619 (GRCm39) probably null Het
Zfand4 T A 6: 116,291,256 (GRCm39) C397S possibly damaging Het
Zfhx3 A G 8: 109,675,583 (GRCm39) N2211S probably damaging Het
Zfp143 G T 7: 109,669,687 (GRCm39) G39C probably benign Het
Zfp568 T A 7: 29,722,301 (GRCm39) D414E possibly damaging Het
Zfp574 C T 7: 24,781,375 (GRCm39) A799V probably damaging 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
IGL02799:Faap100 UTSW 11 120,261,561 (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
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'- GTAGACCAAAGAGAGCCTCCTC -3'
(R):5'- TGGCTGATCCTGTGTCAAGC -3'

Sequencing Primer
(F):5'- GGTGCAAGTGGACAACTCC -3'
(R):5'- ATCCTGTGTCAAGCGTGTG -3'
Posted On 2016-10-24