Incidental Mutation 'P0016:Zfp750'
ID7592
Institutional Source Beutler Lab
Gene Symbol Zfp750
Ensembl Gene ENSMUSG00000039238
Gene Namezinc finger protein 750
SynonymsA030007D23Rik
MMRRC Submission 038269-MU
Accession Numbers

NCBI RefSeq: NM_178763.4; MGI:2442210

Is this an essential gene? Possibly essential (E-score: 0.581) question?
Stock #P0016 (G1)
Quality Score
Status Validated
Chromosome11
Chromosomal Location121510978-121519333 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 121513978 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 24 (K24*)
Ref Sequence ENSEMBL: ENSMUSP00000089951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092298] [ENSMUST00000103013]
Predicted Effect probably null
Transcript: ENSMUST00000092298
AA Change: K24*
SMART Domains Protein: ENSMUSP00000089951
Gene: ENSMUSG00000039238
AA Change: K24*

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
Meta Mutation Damage Score 0.9717 question?
Coding Region Coverage
  • 1x: 85.6%
  • 3x: 81.0%
  • 10x: 66.8%
  • 20x: 50.1%
Validation Efficiency 96% (97/101)
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik A T 5: 138,562,938 L154* probably null Het
4930432E11Rik T C 7: 29,563,112 noncoding transcript Het
Arap3 T A 18: 37,984,348 T892S probably benign Het
Ctnnd2 G A 15: 30,966,938 V987I probably benign Het
Dennd6b T C 15: 89,186,977 I351V probably benign Het
Kif27 G A 13: 58,303,452 Q1021* probably null Het
Klb G A 5: 65,379,923 W865* probably null Het
Mbd1 C T 18: 74,274,538 R130* probably null Het
Mroh7 T A 4: 106,707,857 probably null Het
Myo16 C T 8: 10,400,596 probably benign Het
Rbm22 T A 18: 60,570,770 probably benign Het
Rnaseh2a C G 8: 84,959,800 D206H probably damaging Het
Slain1 A G 14: 103,685,674 T187A probably benign Het
Slamf6 A G 1: 171,936,501 T154A probably damaging Het
Traip A G 9: 107,968,656 D316G possibly damaging Het
Ttn T C 2: 76,811,183 D5196G probably damaging Het
Ubr5 C T 15: 38,000,578 V1569M probably damaging Het
Zfp799 T C 17: 32,819,357 E645G possibly 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
IGL03229:Zfp750 APN 11 121512952 missense possibly damaging 0.87
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
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
R7953:Zfp750 UTSW 11 121511880 missense probably benign 0.00
R8013:Zfp750 UTSW 11 121513017 missense possibly damaging 0.83
R8014:Zfp750 UTSW 11 121513017 missense possibly damaging 0.83
R8043:Zfp750 UTSW 11 121511880 missense probably benign 0.00
R8351:Zfp750 UTSW 11 121513309 missense probably benign 0.01
R8451:Zfp750 UTSW 11 121513309 missense probably benign 0.01
X0057:Zfp750 UTSW 11 121513278 missense probably damaging 0.96
Posted On2012-10-05