Incidental Mutation 'IGL03198:Hcfc1'
ID412889
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hcfc1
Ensembl Gene ENSMUSG00000031386
Gene Namehost cell factor C1
SynonymsHCF-1, HCF1, VP16 accessory protein
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.949) question?
Stock #IGL03198
Quality Score
Status
ChromosomeX
Chromosomal Location73942792-73966357 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 73951329 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 924 (I924V)
Ref Sequence ENSEMBL: ENSMUSP00000110012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033761] [ENSMUST00000114372]
Predicted Effect possibly damaging
Transcript: ENSMUST00000033761
AA Change: I924V

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000033761
Gene: ENSMUSG00000031386
AA Change: I924V

DomainStartEndE-ValueType
Pfam:Kelch_1 32 71 4.3e-7 PFAM
Pfam:Kelch_4 32 81 4.5e-6 PFAM
Pfam:Kelch_3 91 145 5.6e-8 PFAM
Pfam:Kelch_3 146 208 1.5e-6 PFAM
Pfam:Kelch_4 199 254 5.6e-6 PFAM
Pfam:Kelch_3 215 263 2.4e-8 PFAM
Pfam:Kelch_1 254 309 7.5e-8 PFAM
Pfam:Kelch_3 264 330 1.1e-7 PFAM
Pfam:Kelch_5 318 363 7.4e-7 PFAM
Blast:FN3 364 536 5e-61 BLAST
Blast:FN3 538 602 5e-6 BLAST
low complexity region 639 658 N/A INTRINSIC
Blast:FN3 740 932 8e-29 BLAST
low complexity region 933 950 N/A INTRINSIC
internal_repeat_2 975 1018 8.95e-6 PROSPERO
low complexity region 1019 1036 N/A INTRINSIC
internal_repeat_2 1040 1080 8.95e-6 PROSPERO
low complexity region 1081 1095 N/A INTRINSIC
low complexity region 1114 1130 N/A INTRINSIC
low complexity region 1135 1149 N/A INTRINSIC
low complexity region 1164 1182 N/A INTRINSIC
low complexity region 1235 1247 N/A INTRINSIC
low complexity region 1273 1282 N/A INTRINSIC
low complexity region 1308 1321 N/A INTRINSIC
low complexity region 1332 1346 N/A INTRINSIC
low complexity region 1349 1363 N/A INTRINSIC
low complexity region 1371 1384 N/A INTRINSIC
low complexity region 1432 1446 N/A INTRINSIC
low complexity region 1472 1488 N/A INTRINSIC
low complexity region 1493 1510 N/A INTRINSIC
low complexity region 1519 1530 N/A INTRINSIC
low complexity region 1569 1591 N/A INTRINSIC
low complexity region 1616 1655 N/A INTRINSIC
coiled coil region 1693 1723 N/A INTRINSIC
FN3 1805 1885 1.39e0 SMART
FN3 1901 2002 1.07e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114372
AA Change: I924V

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110012
Gene: ENSMUSG00000031386
AA Change: I924V

DomainStartEndE-ValueType
Pfam:Kelch_5 29 67 6.1e-7 PFAM
Pfam:Kelch_1 32 70 5e-8 PFAM
Pfam:Kelch_4 32 80 1.8e-7 PFAM
Pfam:Kelch_3 91 145 1.2e-8 PFAM
Pfam:Kelch_3 215 263 3.4e-9 PFAM
Pfam:Kelch_1 254 309 3.1e-7 PFAM
Pfam:Kelch_3 264 330 8.3e-8 PFAM
PDB:4GO6|C 360 402 1e-21 PDB
Blast:FN3 364 536 6e-61 BLAST
Blast:FN3 538 602 6e-6 BLAST
low complexity region 639 658 N/A INTRINSIC
Blast:FN3 740 932 1e-28 BLAST
low complexity region 933 950 N/A INTRINSIC
internal_repeat_2 975 1018 2.29e-5 PROSPERO
low complexity region 1019 1036 N/A INTRINSIC
internal_repeat_2 1040 1080 2.29e-5 PROSPERO
low complexity region 1081 1095 N/A INTRINSIC
low complexity region 1114 1130 N/A INTRINSIC
low complexity region 1135 1149 N/A INTRINSIC
low complexity region 1164 1182 N/A INTRINSIC
low complexity region 1235 1247 N/A INTRINSIC
low complexity region 1273 1282 N/A INTRINSIC
low complexity region 1308 1321 N/A INTRINSIC
low complexity region 1332 1346 N/A INTRINSIC
low complexity region 1349 1363 N/A INTRINSIC
low complexity region 1371 1384 N/A INTRINSIC
low complexity region 1432 1446 N/A INTRINSIC
low complexity region 1472 1488 N/A INTRINSIC
low complexity region 1563 1574 N/A INTRINSIC
low complexity region 1613 1635 N/A INTRINSIC
low complexity region 1660 1701 N/A INTRINSIC
coiled coil region 1738 1768 N/A INTRINSIC
FN3 1850 1930 1.39e0 SMART
FN3 1946 2047 1.07e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128136
SMART Domains Protein: ENSMUSP00000115792
Gene: ENSMUSG00000031386

DomainStartEndE-ValueType
low complexity region 1 12 N/A INTRINSIC
low complexity region 38 54 N/A INTRINSIC
low complexity region 59 76 N/A INTRINSIC
low complexity region 85 96 N/A INTRINSIC
low complexity region 135 157 N/A INTRINSIC
low complexity region 182 223 N/A INTRINSIC
coiled coil region 259 289 N/A INTRINSIC
FN3 372 452 1.39e0 SMART
FN3 468 569 1.07e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128325
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131091
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156204
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a transcription cofactor that regulates the progression of cell cycle and maintain the ability of embryonic stem cells to self-renew. The encoded protein is a large precursor that undergoes site-specific proteolytic cleavage to yield N- and C-terminal chains that form a non-covalent heterodimer. The encoded protein has been implicated in the regulation of expression of immediate early genes after herpes simplex virus infection and glucose-stimulated secretion of insulin by pancreatic beta cells. [provided by RefSeq, Aug 2015]
PHENOTYPE: Conditional loss of the maternally inherited allele is embryonic lethal with increased apoptosis and reduced cell proliferation. Liver-specific knockout leads to decreased liver regeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adhfe1 A T 1: 9,549,952 probably benign Het
Atp6v0a2 T C 5: 124,712,361 probably null Het
Brca1 G T 11: 101,512,711 probably benign Het
Cd55 A T 1: 130,440,371 C372S probably benign Het
Clip2 A T 5: 134,498,082 probably benign Het
Dgkb A G 12: 38,136,616 N262D probably damaging Het
Fam227b C T 2: 126,124,579 probably null Het
Foxj2 G A 6: 122,833,007 probably null Het
Gm4297 T A X: 24,552,571 probably benign Het
Grik3 A G 4: 125,659,762 D429G probably benign Het
Lrrk1 A G 7: 66,306,894 V411A probably damaging Het
Mdh1 A T 11: 21,564,168 V83E probably damaging Het
Pa2g4 A G 10: 128,565,778 V17A probably damaging Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Polg A G 7: 79,451,722 V1079A probably damaging Het
Polr2a G T 11: 69,747,281 probably null Het
Ptk2 C T 15: 73,236,216 S722N probably damaging Het
Rock2 A G 12: 16,975,507 D1243G probably benign Het
Sirt4 T C 5: 115,483,002 D37G probably benign Het
Slc35d1 T C 4: 103,184,888 Y249C probably damaging Het
Snrnp27 A T 6: 86,682,986 probably null Het
Srek1 T C 13: 103,744,935 probably null Het
Sspo A T 6: 48,477,582 I2951F probably benign Het
Stxbp3 A G 3: 108,827,089 F40L probably damaging Het
Sympk T C 7: 19,044,996 V604A possibly damaging Het
Tbc1d2b T C 9: 90,222,457 Y544C probably damaging Het
Tnpo2 C T 8: 85,051,718 T592I possibly damaging Het
Txndc16 T C 14: 45,151,484 probably benign Het
Ubr5 A T 15: 38,045,720 L120Q probably damaging Het
Wdfy4 A T 14: 33,125,887 M836K probably damaging Het
Wdr48 A G 9: 119,912,413 N141S probably benign Het
Zc3h7a A T 16: 11,162,664 Y28* probably null Het
Zfp423 T C 8: 87,781,676 D659G possibly damaging Het
Other mutations in Hcfc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01399:Hcfc1 APN X 73949909 missense possibly damaging 0.92
IGL03191:Hcfc1 APN X 73955614 missense probably benign 0.30
R0242:Hcfc1 UTSW X 73948429 intron probably benign
R3618:Hcfc1 UTSW X 73950088 missense probably benign 0.14
R4302:Hcfc1 UTSW X 73949366 missense probably benign 0.15
R4785:Hcfc1 UTSW X 73965946 missense probably damaging 0.99
R6711:Hcfc1 UTSW X 73950065 missense probably damaging 0.99
X0021:Hcfc1 UTSW X 73952314 missense possibly damaging 0.95
Posted On2016-08-02