Incidental Mutation 'R1583:Fam111a'
ID 177291
Institutional Source Beutler Lab
Gene Symbol Fam111a
Ensembl Gene ENSMUSG00000024691
Gene Name family with sequence similarity 111, member A
MMRRC Submission 039620-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R1583 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 12545740-12589768 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 12587778 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 297 (V297D)
Ref Sequence ENSEMBL: ENSMUSP00000123598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025595] [ENSMUST00000144662] [ENSMUST00000151307]
AlphaFold Q9D2L9
Predicted Effect probably damaging
Transcript: ENSMUST00000025595
AA Change: V341D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025595
Gene: ENSMUSG00000024691
AA Change: V341D

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 damaging
Transcript: ENSMUST00000144662
AA Change: V341D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119518
Gene: ENSMUSG00000024691
AA Change: V341D

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 damaging
Transcript: ENSMUST00000151307
AA Change: V297D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123598
Gene: ENSMUSG00000024691
AA Change: V297D

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.8%
Validation Efficiency 99% (79/80)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 76,882,681 (GRCm38) S691P probably benign Het
Adgrb3 T C 1: 25,226,831 (GRCm38) probably null Het
Ankar A G 1: 72,679,555 (GRCm38) probably benign Het
Aplf A T 6: 87,646,033 (GRCm38) Y355N probably damaging Het
Bms1 A G 6: 118,389,389 (GRCm38) probably benign Het
Catsperb T C 12: 101,463,114 (GRCm38) I182T probably damaging Het
Cd300ld2 T C 11: 115,013,777 (GRCm38) D88G probably benign Het
Cebpz T C 17: 78,934,752 (GRCm38) N491S probably damaging Het
Crybg2 T C 4: 134,081,459 (GRCm38) S1415P probably damaging Het
Ddc A G 11: 11,829,131 (GRCm38) V331A probably benign Het
Decr2 T C 17: 26,083,024 (GRCm38) E244G probably damaging Het
Dhrs11 A G 11: 84,823,117 (GRCm38) M136T probably damaging Het
Eapp G A 12: 54,685,948 (GRCm38) Q126* probably null Het
Fbxo10 A C 4: 45,062,118 (GRCm38) L136R probably damaging Het
Fbxo30 T A 10: 11,291,374 (GRCm38) H613Q possibly damaging Het
Frk A T 10: 34,591,810 (GRCm38) probably null Het
Gm10392 T A 11: 77,517,481 (GRCm38) D104V probably benign Het
Gpn1 A G 5: 31,497,338 (GRCm38) E78G possibly damaging Het
Hhip T C 8: 79,990,276 (GRCm38) Y506C probably damaging Het
Hid1 G A 11: 115,356,750 (GRCm38) S274L possibly damaging Het
Immp2l G T 12: 41,703,765 (GRCm38) probably benign Het
Klhl21 T C 4: 152,009,624 (GRCm38) F228L possibly damaging Het
Lamc1 T A 1: 153,243,478 (GRCm38) probably null Het
Lars1 G A 18: 42,210,050 (GRCm38) R1101C probably damaging Het
Lratd1 G A 12: 14,150,408 (GRCm38) A106V probably benign Het
Magi2 T C 5: 19,227,332 (GRCm38) V15A probably benign Het
Map2k7 T C 8: 4,243,621 (GRCm38) probably null Het
Mga T A 2: 119,963,960 (GRCm38) H2590Q possibly damaging Het
Mlxip T C 5: 123,450,223 (GRCm38) I238T possibly damaging Het
Mylk T A 16: 34,875,586 (GRCm38) D230E probably benign Het
Nacad T A 11: 6,601,185 (GRCm38) T669S probably benign Het
Nin C T 12: 70,031,738 (GRCm38) M1691I probably benign Het
Nlrp4d C T 7: 10,382,237 (GRCm38) A203T probably damaging Het
Or10aa1 T C 1: 174,042,480 (GRCm38) F177L probably benign Het
Or10q12 A T 19: 13,768,510 (GRCm38) H56L probably benign Het
Or4c106 T G 2: 88,852,262 (GRCm38) F104C probably damaging Het
Or4k5 C A 14: 50,148,774 (GRCm38) M33I probably benign Het
Or4k51 A T 2: 111,754,425 (GRCm38) M59L probably damaging Het
Or5ac19 A G 16: 59,269,031 (GRCm38) V212A probably benign Het
Osbp C A 19: 11,977,829 (GRCm38) Q282K probably benign Het
Osbpl2 A G 2: 180,148,463 (GRCm38) S177G probably damaging Het
Pax1 A G 2: 147,366,255 (GRCm38) H261R possibly damaging Het
Pcif1 A T 2: 164,886,727 (GRCm38) L274F probably damaging Het
Pkhd1 A G 1: 20,117,825 (GRCm38) S3420P probably benign Het
Prss3 A C 6: 41,377,627 (GRCm38) probably benign Het
Ptk2b T C 14: 66,163,114 (GRCm38) T751A possibly damaging Het
Pus10 T C 11: 23,673,239 (GRCm38) V126A probably damaging Het
Rai14 A C 15: 10,587,916 (GRCm38) D258E probably damaging Het
Rbp3 T C 14: 33,954,524 (GRCm38) V143A possibly damaging Het
Sarm1 G A 11: 78,483,327 (GRCm38) Q625* probably null Het
Scgb1b21 T G 7: 33,527,667 (GRCm38) noncoding transcript Het
Scrn1 A T 6: 54,520,769 (GRCm38) V279E probably damaging Het
Sipa1l2 T C 8: 125,421,895 (GRCm38) T1670A probably damaging Het
Slc9a4 A T 1: 40,600,962 (GRCm38) I305F probably benign Het
Smarcc1 A G 9: 110,213,617 (GRCm38) T918A probably damaging Het
Tas2r109 A T 6: 132,980,426 (GRCm38) H180Q probably benign Het
Tas2r121 G A 6: 132,700,230 (GRCm38) R260* probably null Het
Tenm3 T C 8: 48,279,074 (GRCm38) D1249G probably benign Het
Tgtp1 C G 11: 48,987,530 (GRCm38) G116A probably damaging Het
Tial1 A G 7: 128,443,910 (GRCm38) Y317H probably damaging Het
Top6bl T A 19: 4,652,171 (GRCm38) K282N probably damaging Het
Trim66 A T 7: 109,455,080 (GRCm38) W1308R probably damaging Het
Ulk2 T G 11: 61,783,545 (GRCm38) K878N possibly damaging Het
Zfp41 T A 15: 75,618,291 (GRCm38) S31T possibly damaging Het
Other mutations in Fam111a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02565:Fam111a APN 19 12,586,954 (GRCm38) missense probably damaging 0.96
IGL02721:Fam111a APN 19 12,586,972 (GRCm38) missense probably benign 0.04
IGL02885:Fam111a APN 19 12,584,124 (GRCm38) critical splice donor site probably null
R0121:Fam111a UTSW 19 12,584,080 (GRCm38) missense probably benign 0.00
R0524:Fam111a UTSW 19 12,588,048 (GRCm38) missense probably damaging 1.00
R1553:Fam111a UTSW 19 12,587,318 (GRCm38) missense possibly damaging 0.93
R1837:Fam111a UTSW 19 12,587,452 (GRCm38) missense probably benign 0.23
R2945:Fam111a UTSW 19 12,587,866 (GRCm38) nonsense probably null
R3732:Fam111a UTSW 19 12,587,550 (GRCm38) missense possibly damaging 0.57
R4772:Fam111a UTSW 19 12,587,693 (GRCm38) missense probably benign
R4773:Fam111a UTSW 19 12,588,408 (GRCm38) missense possibly damaging 0.91
R4894:Fam111a UTSW 19 12,588,549 (GRCm38) missense probably benign 0.12
R6177:Fam111a UTSW 19 12,587,382 (GRCm38) missense probably damaging 1.00
R6269:Fam111a UTSW 19 12,588,443 (GRCm38) missense probably benign 0.01
R6330:Fam111a UTSW 19 12,586,902 (GRCm38) missense probably damaging 1.00
R6390:Fam111a UTSW 19 12,588,160 (GRCm38) nonsense probably null
R6448:Fam111a UTSW 19 12,588,337 (GRCm38) missense probably benign 0.04
R6813:Fam111a UTSW 19 12,587,342 (GRCm38) missense probably damaging 1.00
R7620:Fam111a UTSW 19 12,587,937 (GRCm38) missense possibly damaging 0.73
R8291:Fam111a UTSW 19 12,587,579 (GRCm38) missense probably benign 0.01
X0010:Fam111a UTSW 19 12,588,228 (GRCm38) missense probably damaging 0.97
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-04-24