Incidental Mutation 'R7693:Hinfp'
ID593502
Institutional Source Beutler Lab
Gene Symbol Hinfp
Ensembl Gene ENSMUSG00000032119
Gene Namehistone H4 transcription factor
SynonymsMizf, DKFZp434F162
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7693 (G1)
Quality Score225.009
Status Not validated
Chromosome9
Chromosomal Location44292440-44305671 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44298345 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 244 (M244T)
Ref Sequence ENSEMBL: ENSMUSP00000149879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034629] [ENSMUST00000214660] [ENSMUST00000216508]
Predicted Effect probably damaging
Transcript: ENSMUST00000034629
AA Change: M244T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034629
Gene: ENSMUSG00000032119
AA Change: M244T

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 probably damaging
Transcript: ENSMUST00000216508
AA Change: M244T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931409K22Rik T C 5: 24,546,628 I541V probably benign Het
Abcc8 C A 7: 46,178,544 S63I probably damaging Het
Adcy10 A G 1: 165,570,771 E1479G probably benign Het
Alpl C T 4: 137,743,809 G339R probably damaging Het
Anapc1 A G 2: 128,641,537 S1213P possibly damaging Het
Aoc3 C A 11: 101,332,512 H525N probably benign Het
Arhgap33 A T 7: 30,526,112 probably null Het
Arhgef4 A G 1: 34,724,141 E826G probably benign Het
Art2a-ps A T 7: 101,554,849 *161R probably null Het
Azi2 A T 9: 118,047,593 N59I probably damaging Het
Cdhr5 T C 7: 141,271,778 T538A probably benign Het
Csnk2b C A 17: 35,117,996 G123C probably null Het
Dnaja2 G T 8: 85,540,310 P306Q probably damaging Het
Dusp19 A G 2: 80,617,561 T60A probably benign Het
Epm2aip1 G A 9: 111,272,375 G139S probably benign Het
Fer1l4 A G 2: 156,020,431 F1774S possibly damaging Het
Fxyd3 T A 7: 31,071,173 R66S probably benign Het
Gjd2 T C 2: 114,011,828 N56S probably damaging Het
Gmcl1 A G 6: 86,714,257 I252T probably benign Het
Gnl1 T C 17: 35,988,220 C517R probably damaging Het
Grin1 T A 2: 25,318,667 M74L possibly damaging Het
Ick A G 9: 78,157,726 D306G probably benign Het
Kcnma1 T A 14: 23,367,612 I850F probably damaging Het
Kif13a G T 13: 46,750,613 T1748N probably benign Het
Lama1 C T 17: 67,817,031 A2817V Het
Map6 C T 7: 99,336,292 L671F possibly damaging Het
Neb C T 2: 52,299,569 A770T probably damaging Het
Noc2l T A 4: 156,240,307 H280Q probably damaging Het
Ntrk1 T C 3: 87,788,426 D205G probably benign Het
Olfr1030 A T 2: 85,984,635 Y265F probably damaging Het
Olfr1353 A T 10: 78,970,303 Y218F probably damaging Het
Parp9 A G 16: 35,956,912 S409G possibly damaging Het
Pcnx2 G A 8: 125,887,125 T529I probably benign Het
Popdc3 A G 10: 45,315,131 S113G probably benign Het
Rbm8a T C 3: 96,630,308 I25T probably damaging Het
Rfc4 A G 16: 23,127,413 W40R probably damaging Het
Rp1 T C 1: 4,347,403 D1162G probably damaging Het
Slc14a2 G A 18: 78,154,003 A846V possibly damaging Het
Spx A G 6: 142,414,790 D56G probably damaging Het
Tanc2 T A 11: 105,923,467 N1912K probably damaging Het
Tmcc1 T C 6: 116,024,882 I559V Het
Tnfaip3 A G 10: 19,004,780 V513A probably benign Het
Ucp3 T C 7: 100,482,592 F217L probably benign Het
Wdr92 T C 11: 17,212,064 V34A probably benign Het
Zc3h11a A T 1: 133,645,737 M55K probably damaging Het
Zfp316 G A 5: 143,263,412 T156I unknown Het
Other mutations in Hinfp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Hinfp APN 9 44297766 missense probably damaging 1.00
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
R8086:Hinfp UTSW 9 44298989 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAAAGCGCATGTGATTCCGG -3'
(R):5'- CACTTAGACAATGATCAGCACTTAC -3'

Sequencing Primer
(F):5'- CGGAGGGAAGAAGGCAGTG -3'
(R):5'- TTAACTCAGGTGGACTCCAGATC -3'
Posted On2019-11-12