Incidental Mutation 'IGL00510:Hinfp'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hinfp
Ensembl Gene ENSMUSG00000032119
Gene Namehistone H4 transcription factor
SynonymsMizf, DKFZp434F162
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00510
Quality Score
Chromosomal Location44292440-44305671 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 44297766 bp
Amino Acid Change Arginine to Cysteine at position 352 (R352C)
Ref Sequence ENSEMBL: ENSMUSP00000149879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034629] [ENSMUST00000214660] [ENSMUST00000216508]
Predicted Effect probably damaging
Transcript: ENSMUST00000034629
AA Change: R352C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034629
Gene: ENSMUSG00000032119
AA Change: R352C

ZnF_C2H2 15 39 8.09e-1 SMART
low complexity region 49 59 N/A INTRINSIC
ZnF_C2H2 60 85 2.82e1 SMART
ZnF_C2H2 125 149 1.16e1 SMART
ZnF_C2H2 165 189 5.42e-2 SMART
ZnF_C2H2 195 215 9.81e1 SMART
ZnF_C2H2 225 247 3.69e-4 SMART
ZnF_C2H2 251 274 1.4e-4 SMART
ZnF_C2H2 280 302 1.67e-2 SMART
ZnF_C2H2 308 333 5.06e-2 SMART
ZnF_C2H2 341 364 2.75e-3 SMART
low complexity region 399 406 N/A INTRINSIC
low complexity region 425 448 N/A INTRINSIC
low complexity region 482 489 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000214660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215637
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215665
Predicted Effect probably damaging
Transcript: ENSMUST00000216508
AA Change: R352C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217137
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217605
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that interacts with methyl-CpG-binding protein-2 (MBD2), a component of the MeCP1 histone deacetylase (HDAC) complex, and plays a role in DNA methylation and transcription repression. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality associated with delayed hatching and failure of the blastocyst to expand. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 A G 3: 138,289,907 N357S probably damaging Het
Akap4 A G X: 7,076,624 T389A probably damaging Het
Aldh3a1 A G 11: 61,213,596 E103G probably damaging Het
Aldh3b3 C A 19: 3,965,863 Q278K probably benign Het
Ap3m2 A T 8: 22,797,227 probably null Het
Asxl3 G T 18: 22,523,565 C1544F probably damaging Het
Chd7 A G 4: 8,801,404 D716G probably damaging Het
Dennd1b G T 1: 139,102,071 R322L probably damaging Het
Dnah7a C T 1: 53,501,542 V2558M probably damaging Het
Fbp2 T C 13: 62,841,884 I203V possibly damaging Het
Gnai1 T A 5: 18,291,619 D102V probably benign Het
Gtf2h1 C T 7: 46,819,210 T524I possibly damaging Het
Lpin1 G A 12: 16,553,992 H613Y probably benign Het
Med29 C T 7: 28,390,841 A110T possibly damaging Het
Myo9a T C 9: 59,832,181 probably benign Het
Nlgn1 G T 3: 25,436,490 P329T probably benign Het
Osmr G T 15: 6,823,631 Y593* probably null Het
Otx2 T C 14: 48,658,735 T289A probably benign Het
Pkn2 T C 3: 142,799,019 T799A probably damaging Het
Plcb1 T A 2: 135,251,756 V163D possibly damaging Het
Rgs3 G A 4: 62,701,180 A501T possibly damaging Het
Rnf103 T C 6: 71,509,749 S455P probably damaging Het
Slc9c1 A G 16: 45,539,639 T19A probably benign Het
Sp110 A C 1: 85,577,329 F434C probably benign Het
Spryd7 T A 14: 61,545,741 N111Y probably damaging Het
Zfp687 A G 3: 95,008,447 S1005P probably damaging Het
Other mutations in Hinfp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00973:Hinfp APN 9 44298139 missense probably benign 0.43
R0131:Hinfp UTSW 9 44299763 missense probably damaging 1.00
R0131:Hinfp UTSW 9 44299763 missense probably damaging 1.00
R0132:Hinfp UTSW 9 44299763 missense probably damaging 1.00
R0207:Hinfp UTSW 9 44296327 missense possibly damaging 0.84
R0254:Hinfp UTSW 9 44298239 missense probably damaging 1.00
R0390:Hinfp UTSW 9 44298948 missense probably damaging 1.00
R2116:Hinfp UTSW 9 44299615 missense probably damaging 1.00
R3613:Hinfp UTSW 9 44297744 missense probably damaging 1.00
R3742:Hinfp UTSW 9 44302515 missense probably damaging 1.00
R5199:Hinfp UTSW 9 44296392 missense probably benign 0.00
R5773:Hinfp UTSW 9 44299236 missense probably benign 0.09
R5788:Hinfp UTSW 9 44297808 missense possibly damaging 0.89
R6210:Hinfp UTSW 9 44298872 critical splice donor site probably null
R6968:Hinfp UTSW 9 44297985 missense probably benign 0.00
R7294:Hinfp UTSW 9 44299270 missense probably damaging 0.97
R7402:Hinfp UTSW 9 44298017 missense probably damaging 1.00
R7693:Hinfp UTSW 9 44298345 missense probably damaging 0.98
Posted On2012-04-20