Incidental Mutation 'IGL01450:Zfp750'
ID84599
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: 0.508) question?
Stock #IGL01450
Quality Score
Status
Chromosome11
Chromosomal Location121510978-121519333 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 121513029 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 340 (R340H)
Ref Sequence ENSEMBL: ENSMUSP00000089951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092298] [ENSMUST00000103013]
Predicted Effect probably benign
Transcript: ENSMUST00000092298
AA Change: R340H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000089951
Gene: ENSMUSG00000039238
AA Change: R340H

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 G A 14: 103,051,483 R143Q possibly damaging Het
Adh4 T A 3: 138,424,033 C207S probably benign Het
Akap8 C A 17: 32,315,687 R317L probably damaging Het
Aptx T C 4: 40,688,133 T182A probably damaging Het
Ccar2 A T 14: 70,139,751 probably benign Het
Cd300ld2 T A 11: 115,012,543 probably benign Het
Cgnl1 T C 9: 71,631,862 probably benign Het
Cubn A G 2: 13,350,862 probably benign Het
Cyp2j5 T A 4: 96,658,690 T196S probably damaging Het
Dctn1 T C 6: 83,194,110 probably benign Het
Dync2li1 A T 17: 84,633,556 T67S possibly damaging Het
Fetub A G 16: 22,929,236 N54S probably benign Het
Gpld1 T C 13: 24,979,681 Y486H probably damaging Het
Grb10 T A 11: 11,970,432 H62L probably damaging Het
H6pd T G 4: 149,984,118 H264P probably damaging Het
Lmtk2 T C 5: 144,174,702 S747P probably benign Het
Nkpd1 T C 7: 19,523,625 F293S probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Osbpl1a A C 18: 12,871,095 F422V possibly damaging Het
Pclo A T 5: 14,677,193 probably benign Het
Phc3 G A 3: 30,914,504 R825C probably damaging Het
Plk2 G A 13: 110,396,324 V140M probably damaging Het
Racgap1 A G 15: 99,626,363 S388P probably benign Het
Rap1gds1 A T 3: 138,965,920 N146K probably damaging Het
Rgs7 C T 1: 175,086,180 V1M probably benign Het
Rps6ka5 A T 12: 100,552,991 probably benign Het
Scn4a A G 11: 106,324,661 I1163T probably damaging Het
Selenop C T 15: 3,277,273 T178M probably benign Het
Shank2 G T 7: 144,285,068 E680* probably null Het
Sipa1l2 A C 8: 125,422,577 probably null Het
Slc14a2 T C 18: 78,183,530 T437A probably damaging Het
Smarcc2 C T 10: 128,469,320 P307S probably damaging Het
Soga3 T A 10: 29,196,323 M537K probably damaging Het
Sptb C A 12: 76,624,240 R443L possibly damaging Het
Stpg3 T C 2: 25,214,610 probably benign Het
Tinag T A 9: 77,045,576 E42V possibly damaging Het
Topors C A 4: 40,262,417 R289L probably damaging Het
Ubash3a C A 17: 31,208,231 A38E probably damaging Het
Vmn2r121 T A X: 124,131,191 Y481F possibly damaging Het
Vps54 A T 11: 21,291,135 E359D probably benign Het
Xkr6 G A 14: 63,798,215 R255H probably damaging Het
Other mutations in Zfp750
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Zfp750 APN 11 121513096 missense probably benign 0.07
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
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 On2013-11-11