Incidental Mutation 'R6390:Fam111a'
ID 515745
Institutional Source Beutler Lab
Gene Symbol Fam111a
Ensembl Gene ENSMUSG00000024691
Gene Name family with sequence similarity 111, member A
Synonyms 4632417K18Rik
MMRRC Submission 044539-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R6390 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 12550874-12567133 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to G at 12565524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 424 (Y424*)
Ref Sequence ENSEMBL: ENSMUSP00000123598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025595] [ENSMUST00000144662] [ENSMUST00000151307]
AlphaFold Q9D2L9
Predicted Effect probably null
Transcript: ENSMUST00000025595
AA Change: Y468*
SMART Domains Protein: ENSMUSP00000025595
Gene: ENSMUSG00000024691
AA Change: Y468*

low complexity region 311 320 N/A INTRINSIC
Pfam:Trypsin 353 580 2.7e-7 PFAM
Pfam:Trypsin_2 368 557 6.4e-15 PFAM
Pfam:Peptidase_S7 491 574 6.9e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136697
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139270
Predicted Effect probably null
Transcript: ENSMUST00000144662
AA Change: Y468*
SMART Domains Protein: ENSMUSP00000119518
Gene: ENSMUSG00000024691
AA Change: Y468*

low complexity region 311 320 N/A INTRINSIC
Pfam:Trypsin 353 580 2.7e-7 PFAM
Pfam:Trypsin_2 355 557 1.3e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000151307
AA Change: Y424*
SMART Domains Protein: ENSMUSP00000123598
Gene: ENSMUSG00000024691
AA Change: Y424*

low complexity region 267 276 N/A INTRINSIC
Pfam:Trypsin 309 536 6.6e-7 PFAM
Pfam:Trypsin_2 324 513 5.6e-15 PFAM
Pfam:Peptidase_S7 447 530 8.3e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224046
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.4%
Validation Efficiency 100% (29/29)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is cell-cycle regulated, and has nuclear localization. The C-terminal half of the protein shares homology with trypsin-like peptidases and it contains a PCNA-interacting peptide (PIP) box, that is necessary for its co-localization with proliferating cell nuclear antigen (PCNA). Reduced expression of this gene resulted in DNA replication defects, consistent with the demonstrated role for this gene in Simian Virus 40 (SV40) viral replication. Mutations in this gene have been associated with Kenny-Caffey syndrome (KCS) type 2 and the more severe osteocraniostenosis (OCS, also known as Gracile Bone Dysplasia), both characterized by short stature, hypoparathyroidism, bone development abnormalities, and hypocalcemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg9a G T 1: 75,164,625 (GRCm39) P113Q probably damaging Het
Ccdc150 A G 1: 54,407,176 (GRCm39) D1073G probably benign Het
Cd8a A G 6: 71,350,913 (GRCm39) Y126C probably damaging Het
Cdca8 A G 4: 124,830,168 (GRCm39) M68T probably damaging Het
Cyp2d26 G A 15: 82,676,825 (GRCm39) P174S possibly damaging Het
Dnai3 A G 3: 145,801,143 (GRCm39) L105P probably damaging Het
Esco1 T G 18: 10,567,528 (GRCm39) N311H probably damaging Het
Evx1 A G 6: 52,292,842 (GRCm39) M183V probably benign Het
Fat4 T C 3: 39,034,529 (GRCm39) I2727T probably damaging Het
Ggt6 T A 11: 72,327,437 (GRCm39) Y107N possibly damaging Het
Habp2 G C 19: 56,295,255 (GRCm39) E49Q possibly damaging Het
Hibadh A C 6: 52,533,474 (GRCm39) L214R probably damaging Het
Ift57 T G 16: 49,582,836 (GRCm39) probably null Het
Irak4 T C 15: 94,459,367 (GRCm39) S328P probably damaging Het
Krtap6-2 A T 16: 89,216,834 (GRCm39) Y44* probably null Het
Lrrc46 T C 11: 96,931,757 (GRCm39) T22A probably damaging Het
Muc2 G T 7: 141,305,883 (GRCm39) V230L probably damaging Het
Ncan T C 8: 70,567,899 (GRCm39) D71G probably benign Het
Nsd2 T C 5: 34,038,525 (GRCm39) S779P probably damaging Het
Rps6ka5 G T 12: 100,537,251 (GRCm39) T493K probably damaging Het
Slc6a21 A T 7: 44,936,426 (GRCm39) M135L probably benign Het
Sprtn A G 8: 125,629,958 (GRCm39) N417S probably benign Het
Trim61 T A 8: 65,466,842 (GRCm39) M140L probably benign Het
Vars1 C A 17: 35,234,615 (GRCm39) A1148E probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Vmn2r112 T C 17: 22,824,230 (GRCm39) V495A probably benign Het
Vmn2r117 A T 17: 23,679,088 (GRCm39) V712E possibly damaging Het
Wdfy4 T C 14: 32,826,051 (GRCm39) D1200G probably damaging Het
Zbtb6 A T 2: 37,318,690 (GRCm39) S413T probably benign Het
Zp2 G T 7: 119,740,453 (GRCm39) N170K probably benign Het
Other mutations in Fam111a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02565:Fam111a APN 19 12,564,318 (GRCm39) missense probably damaging 0.96
IGL02721:Fam111a APN 19 12,564,336 (GRCm39) missense probably benign 0.04
IGL02885:Fam111a APN 19 12,561,488 (GRCm39) critical splice donor site probably null
R0121:Fam111a UTSW 19 12,561,444 (GRCm39) missense probably benign 0.00
R0524:Fam111a UTSW 19 12,565,412 (GRCm39) missense probably damaging 1.00
R1553:Fam111a UTSW 19 12,564,682 (GRCm39) missense possibly damaging 0.93
R1583:Fam111a UTSW 19 12,565,142 (GRCm39) missense probably damaging 0.99
R1837:Fam111a UTSW 19 12,564,816 (GRCm39) missense probably benign 0.23
R2945:Fam111a UTSW 19 12,565,230 (GRCm39) nonsense probably null
R3732:Fam111a UTSW 19 12,564,914 (GRCm39) missense possibly damaging 0.57
R4772:Fam111a UTSW 19 12,565,057 (GRCm39) missense probably benign
R4773:Fam111a UTSW 19 12,565,772 (GRCm39) missense possibly damaging 0.91
R4894:Fam111a UTSW 19 12,565,913 (GRCm39) missense probably benign 0.12
R6177:Fam111a UTSW 19 12,564,746 (GRCm39) missense probably damaging 1.00
R6269:Fam111a UTSW 19 12,565,807 (GRCm39) missense probably benign 0.01
R6330:Fam111a UTSW 19 12,564,266 (GRCm39) missense probably damaging 1.00
R6448:Fam111a UTSW 19 12,565,701 (GRCm39) missense probably benign 0.04
R6813:Fam111a UTSW 19 12,564,706 (GRCm39) missense probably damaging 1.00
R7620:Fam111a UTSW 19 12,565,301 (GRCm39) missense possibly damaging 0.73
R8291:Fam111a UTSW 19 12,564,943 (GRCm39) missense probably benign 0.01
X0010:Fam111a UTSW 19 12,565,592 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-05-04