Incidental Mutation 'R6269:Fam111a'
ID 507254
Institutional Source Beutler Lab
Gene Symbol Fam111a
Ensembl Gene ENSMUSG00000024691
Gene Name family with sequence similarity 111, member A
Synonyms 4632417K18Rik
MMRRC Submission 044440-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R6269 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 12550874-12567133 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12565807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 519 (T519A)
Ref Sequence ENSEMBL: ENSMUSP00000123598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025595] [ENSMUST00000144662] [ENSMUST00000151307]
AlphaFold Q9D2L9
Predicted Effect probably benign
Transcript: ENSMUST00000025595
AA Change: T563A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000025595
Gene: ENSMUSG00000024691
AA Change: T563A

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000144662
AA Change: T563A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000119518
Gene: ENSMUSG00000024691
AA Change: T563A

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000151307
AA Change: T519A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000123598
Gene: ENSMUSG00000024691
AA Change: T519A

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T A 6: 86,941,033 (GRCm39) I609N unknown Het
Ano10 A T 9: 122,090,308 (GRCm39) I277N probably damaging Het
Ap2b1 A G 11: 83,237,499 (GRCm39) D483G probably damaging Het
As3mt T A 19: 46,708,391 (GRCm39) F226Y probably damaging Het
Atp10a G A 7: 58,453,487 (GRCm39) R855H possibly damaging Het
Bin3 T A 14: 70,374,611 (GRCm39) H213Q probably benign Het
Bora T C 14: 99,311,103 (GRCm39) C512R probably damaging Het
Camk2b T A 11: 5,928,497 (GRCm39) D414V probably damaging Het
Ccdc27 A T 4: 154,122,179 (GRCm39) L233Q unknown Het
Ccdc73 T C 2: 104,737,978 (GRCm39) S25P probably damaging Het
Cenpf G A 1: 189,392,117 (GRCm39) H572Y probably benign Het
Chil4 A G 3: 106,111,487 (GRCm39) V209A probably damaging Het
Clstn1 T C 4: 149,728,524 (GRCm39) V650A probably benign Het
Cox6a2 T A 7: 127,805,437 (GRCm39) S11C probably benign Het
Csf1 T C 3: 107,656,317 (GRCm39) E238G probably benign Het
Cyp2c23 T A 19: 44,017,626 (GRCm39) M1L unknown Het
Cyp4a10 T A 4: 115,381,509 (GRCm39) M191K probably damaging Het
Cyp4a14 A G 4: 115,348,328 (GRCm39) V383A possibly damaging Het
D130052B06Rik T G 11: 33,573,916 (GRCm39) V171G possibly damaging Het
Dlgap2 A G 8: 14,872,369 (GRCm39) T617A probably benign Het
Dyrk4 T A 6: 126,863,690 (GRCm39) I351F probably damaging Het
Epg5 T C 18: 77,991,585 (GRCm39) V94A probably benign Het
Gdpd4 A G 7: 97,623,669 (GRCm39) S314G probably damaging Het
Gm9758 T A 5: 14,962,274 (GRCm39) K111N possibly damaging Het
Gpr137b A T 13: 13,538,096 (GRCm39) V285E probably damaging Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Itgal T A 7: 126,929,389 (GRCm39) L1102Q probably null Het
Kctd19 T A 8: 106,121,992 (GRCm39) Y185F possibly damaging Het
Kif5b A G 18: 6,223,558 (GRCm39) L317P possibly damaging Het
Klhl42 C A 6: 146,993,805 (GRCm39) A259E probably damaging Het
Lrrc2 A G 9: 110,810,017 (GRCm39) D351G probably damaging Het
Med12l A G 3: 59,135,243 (GRCm39) E797G probably damaging Het
Mink1 A G 11: 70,489,813 (GRCm39) E63G probably damaging Het
Nek9 T C 12: 85,379,103 (GRCm39) probably null Het
Or12e8 A T 2: 87,677,218 (GRCm39) H201L possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Parp6 G A 9: 59,557,295 (GRCm39) V627I probably benign Het
Pclo C T 5: 14,572,108 (GRCm39) Q498* probably null Het
Pdlim5 T C 3: 142,018,086 (GRCm39) T170A possibly damaging Het
Pgap1 A T 1: 54,587,167 (GRCm39) Y136* probably null Het
Pgghg T A 7: 140,526,097 (GRCm39) N563K probably damaging Het
Plxnb2 A G 15: 89,044,916 (GRCm39) M1143T probably benign Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Prc1 G A 7: 79,959,175 (GRCm39) R381Q probably damaging Het
Psph A T 5: 129,843,529 (GRCm39) I175N probably damaging Het
Rbbp8nl T A 2: 179,923,305 (GRCm39) K131* probably null Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Homo
Sde2 G A 1: 180,683,371 (GRCm39) V42I probably benign Het
Slc25a3 G A 10: 90,952,963 (GRCm39) R314* probably null Het
Spag9 A G 11: 93,935,333 (GRCm39) N48S probably benign Het
Srp54b T C 12: 55,302,757 (GRCm39) M351T possibly damaging Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tcaf2 A G 6: 42,604,342 (GRCm39) L679P probably damaging Het
Tnrc6b T A 15: 80,764,944 (GRCm39) N815K probably benign Het
Usp17la A T 7: 104,509,557 (GRCm39) Q54L possibly damaging Het
Vmn2r92 T A 17: 18,387,036 (GRCm39) I125K probably benign Het
Xrra1 T C 7: 99,566,679 (GRCm39) Y732H probably damaging Het
Zfp131 A G 13: 120,227,941 (GRCm39) S603P possibly damaging Het
Zfp28 G T 7: 6,396,612 (GRCm39) S349I 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
R6330:Fam111a UTSW 19 12,564,266 (GRCm39) missense probably damaging 1.00
R6390:Fam111a UTSW 19 12,565,524 (GRCm39) nonsense probably null
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
(F):5'- TTGCTGTACAGTGGTCCCTC -3'
(R):5'- TGCCATTTTGGGGTGAAAGC -3'

Sequencing Primer
(F):5'- CTGTACAGTGGTCCCTCAAAGTAG -3'
(R):5'- TTGTCTGCAGAAAAACACAATAGGC -3'
Posted On 2018-03-15