Incidental Mutation 'IGL03229:Zfp750'
ID413823
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp750
Ensembl Gene ENSMUSG00000039238
Gene Namezinc finger protein 750
SynonymsA030007D23Rik
Accession Numbers

NCBI RefSeq: NM_178763.4; MGI:2442210

Is this an essential gene? Possibly essential (E-score: 0.554) question?
Stock #IGL03229
Quality Score
Status
Chromosome11
Chromosomal Location121510978-121519333 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 121512952 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 366 (H366Y)
Ref Sequence ENSEMBL: ENSMUSP00000089951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092298] [ENSMUST00000103013]
Predicted Effect possibly damaging
Transcript: ENSMUST00000092298
AA Change: H366Y

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000089951
Gene: ENSMUSG00000039238
AA Change: H366Y

DomainStartEndE-ValueType
ZnF_C2H2 25 45 2.12e1 SMART
low complexity region 352 362 N/A INTRINSIC
low complexity region 689 702 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103013
SMART Domains Protein: ENSMUSP00000099302
Gene: ENSMUSG00000039230

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
low complexity region 45 62 N/A INTRINSIC
SCOP:d1b3ua_ 357 742 4e-20 SMART
Pfam:TFCD_C 900 1090 1.4e-74 PFAM
low complexity region 1113 1120 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125167
SMART Domains Protein: ENSMUSP00000124735
Gene: ENSMUSG00000039230

DomainStartEndE-ValueType
low complexity region 36 58 N/A INTRINSIC
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 protein with a nuclear localization site and a C2H2 zinc finger domain. Mutations in this gene have been associated with seborrhea-like dermatitis with psoriasiform elements. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,940,936 I832T probably damaging Het
Adcyap1r1 T C 6: 55,478,123 S124P probably damaging Het
Coq4 A G 2: 29,788,485 D41G probably benign Het
Cpb1 A T 3: 20,249,837 Y354* probably null Het
Dip2b T C 15: 100,207,838 probably benign Het
Dmxl2 C T 9: 54,404,172 R1755H probably damaging Het
Dyrk4 G T 6: 126,886,642 probably benign Het
E2f7 T C 10: 110,754,346 V120A probably benign Het
Fsip2 A T 2: 82,978,076 I1580F possibly damaging Het
Gm7030 C T 17: 36,127,722 G259E probably damaging Het
Gm9755 C A 8: 67,514,672 noncoding transcript Het
Gprc6a T G 10: 51,616,603 N480T probably damaging Het
Hdlbp T C 1: 93,430,187 I331V probably benign Het
Heatr6 G T 11: 83,781,445 G1093V probably benign Het
Hist2h2ac C T 3: 96,220,637 A70T probably damaging Het
Kri1 T C 9: 21,282,070 E162G probably damaging Het
Nckipsd T C 9: 108,811,614 V116A probably benign Het
Nek10 A G 14: 14,986,686 H997R probably benign Het
Nov A G 15: 54,749,308 T238A probably benign Het
Nxph1 A G 6: 9,247,830 Y267C probably damaging Het
Olfr1090 A T 2: 86,754,016 C241S probably damaging Het
Olfr294 T C 7: 86,616,078 D189G probably benign Het
Ppip5k2 A T 1: 97,728,961 V829E probably damaging Het
Prkcz A C 4: 155,262,506 S573A probably benign Het
Prl2c1 T A 13: 27,856,629 probably benign Het
Rgs22 T A 15: 36,015,779 probably benign Het
Scn1a T A 2: 66,299,713 I1253F probably damaging Het
Tarm1 A G 7: 3,496,897 C146R probably damaging Het
Tor2a A T 2: 32,759,692 I189F probably damaging Het
Trappc9 A T 15: 73,058,456 L17Q probably damaging Het
Trim45 T A 3: 100,923,069 L53Q probably damaging Het
Ubr7 T C 12: 102,769,155 L291P probably damaging Het
Unc79 T C 12: 103,134,539 V1878A probably damaging Het
Wdr90 T C 17: 25,845,463 probably benign Het
Xpnpep1 T C 19: 53,025,380 H42R probably benign Het
Zmynd11 A G 13: 9,689,565 C462R probably damaging Het
Other mutations in Zfp750
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Zfp750 APN 11 121513096 missense probably benign 0.07
IGL01450:Zfp750 APN 11 121513029 missense probably benign
IGL01467:Zfp750 APN 11 121512941 nonsense probably null
IGL01538:Zfp750 APN 11 121512165 missense probably benign 0.02
IGL01732:Zfp750 APN 11 121512993 missense probably benign 0.01
IGL01793:Zfp750 APN 11 121513984 missense probably damaging 1.00
IGL02004:Zfp750 APN 11 121512149 missense probably benign 0.00
IGL02334:Zfp750 APN 11 121512011 missense probably benign 0.03
IGL02441:Zfp750 APN 11 121513629 missense probably benign 0.00
IGL03173:Zfp750 APN 11 121513825 nonsense probably null
IGL03244:Zfp750 APN 11 121513687 nonsense probably null
IGL03351:Zfp750 APN 11 121513347 missense probably damaging 1.00
IGL03390:Zfp750 APN 11 121511944 nonsense probably null
P0016:Zfp750 UTSW 11 121513978 nonsense probably null
R0800:Zfp750 UTSW 11 121512012 missense probably benign
R0900:Zfp750 UTSW 11 121512981 missense probably benign 0.31
R1444:Zfp750 UTSW 11 121512047 missense probably damaging 1.00
R1470:Zfp750 UTSW 11 121511993 missense probably benign
R1470:Zfp750 UTSW 11 121511993 missense probably benign
R2008:Zfp750 UTSW 11 121513125 missense possibly damaging 0.92
R2009:Zfp750 UTSW 11 121513125 missense possibly damaging 0.92
R2134:Zfp750 UTSW 11 121513932 missense probably damaging 1.00
R2415:Zfp750 UTSW 11 121512479 missense probably benign 0.01
R2912:Zfp750 UTSW 11 121512327 missense probably benign 0.00
R3611:Zfp750 UTSW 11 121512155 missense probably benign 0.03
R4648:Zfp750 UTSW 11 121511880 missense probably benign 0.00
R5068:Zfp750 UTSW 11 121512195 missense probably benign 0.02
R5487:Zfp750 UTSW 11 121513732 missense probably benign 0.00
X0057:Zfp750 UTSW 11 121513278 missense probably damaging 0.96
Posted On2016-08-02