Incidental Mutation 'R0782:Faap100'
ID 76691
Institutional Source Beutler Lab
Gene Symbol Faap100
Ensembl Gene ENSMUSG00000025384
Gene Name Fanconi anemia core complex associated protein 100
Synonyms 2310003H01Rik
MMRRC Submission 038962-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.378) question?
Stock # R0782 (G1)
Quality Score 218
Status Validated
Chromosome 11
Chromosomal Location 120260388-120269572 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 120267530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026448] [ENSMUST00000044271] [ENSMUST00000103017]
AlphaFold A2ACJ2
Predicted Effect probably null
Transcript: ENSMUST00000026448
SMART Domains Protein: ENSMUSP00000026448
Gene: ENSMUSG00000025384

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: ENSMUST00000148520
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152346
Meta Mutation Damage Score 0.9491 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.0%
  • 20x: 93.3%
Validation Efficiency 100% (39/39)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 C T 11: 97,391,380 (GRCm39) P1299L possibly damaging Het
B3glct C T 5: 149,650,275 (GRCm39) T126M probably damaging Het
Baz1a A T 12: 54,941,273 (GRCm39) D1492E probably damaging Het
Cdc14a A G 3: 116,115,785 (GRCm39) I259T probably damaging Het
Cog7 C A 7: 121,543,020 (GRCm39) A464S possibly damaging Het
Csf2rb2 C A 15: 78,170,951 (GRCm39) K368N probably damaging Het
Cspp1 T A 1: 10,200,199 (GRCm39) probably benign Het
Cyp2c37 A G 19: 39,982,269 (GRCm39) H90R probably benign Het
Dcst1 A G 3: 89,264,807 (GRCm39) F314L possibly damaging Het
Dhx36 A T 3: 62,414,135 (GRCm39) probably benign Het
Efr3b G A 12: 4,034,686 (GRCm39) probably benign Het
Hmcn1 A G 1: 150,629,416 (GRCm39) I947T possibly damaging Het
Ilkap C T 1: 91,306,272 (GRCm39) R103H probably damaging Het
Impa1 A T 3: 10,387,956 (GRCm39) probably benign Het
Kbtbd8 C T 6: 95,099,213 (GRCm39) R164C probably damaging Het
Lactb2 T G 1: 13,717,675 (GRCm39) N116T probably benign Het
Myh8 T A 11: 67,180,580 (GRCm39) N605K probably benign Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Napa T C 7: 15,849,192 (GRCm39) M244T probably benign Het
Nckap5 G A 1: 125,909,278 (GRCm39) S1719F probably damaging Het
Nfe2l2 T C 2: 75,507,177 (GRCm39) I308V probably benign Het
Or51af1 C A 7: 103,141,722 (GRCm39) R121L probably damaging Het
Ppfia2 C T 10: 106,763,592 (GRCm39) S1195L probably benign Het
Rasa4 A G 5: 136,133,386 (GRCm39) K615R possibly damaging Het
Rnf216 T C 5: 143,054,647 (GRCm39) K634E possibly damaging Het
Samd3 A G 10: 26,146,138 (GRCm39) T388A probably damaging Het
Serping1 G A 2: 84,597,790 (GRCm39) P364S probably damaging Het
Slc39a10 T C 1: 46,875,156 (GRCm39) S49G probably damaging Het
Smc2 C A 4: 52,469,799 (GRCm39) T762K probably benign Het
Smpd1 T A 7: 105,204,550 (GRCm39) V143E possibly damaging Het
Synj2bp A T 12: 81,579,507 (GRCm39) L16Q probably damaging Het
Tcof1 G A 18: 60,949,352 (GRCm39) R1188W probably damaging Het
Unc80 A G 1: 66,661,740 (GRCm39) R1722G possibly damaging Het
Vamp5 T C 6: 72,346,453 (GRCm39) S48G probably damaging Het
Vps13d G A 4: 144,853,195 (GRCm39) probably benign Het
Zfp292 T C 4: 34,839,382 (GRCm39) N161S possibly damaging Het
Zfp831 A G 2: 174,488,423 (GRCm39) T1033A 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
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
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'- GCTGCTGTGGGAGATGCTCTTAAAC -3'
(R):5'- TGTGGTAGACTTGACTCGGAGAGAC -3'

Sequencing Primer
(F):5'- TGGGAGATGCTCTTAAACCAACC -3'
(R):5'- CAGTCCTTGGAACCCTGAGAAG -3'
Posted On 2013-10-16