Incidental Mutation 'IGL00510:Hinfp'
ID4901
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
Status
Chromosome9
Chromosomal Location44292440-44305671 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 44297766 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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