Incidental Mutation 'IGL02004:Zfp750'
ID 182210
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp750
Ensembl Gene ENSMUSG00000039238
Gene Name zinc finger protein 750
Synonyms A030007D23Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.649) question?
Stock # IGL02004
Quality Score
Status
Chromosome 11
Chromosomal Location 121401804-121410159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121402975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 591 (D591G)
Ref Sequence ENSEMBL: ENSMUSP00000089951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092298] [ENSMUST00000103013]
AlphaFold Q8BH05
Predicted Effect probably benign
Transcript: ENSMUST00000092298
AA Change: D591G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000089951
Gene: ENSMUSG00000039238
AA Change: D591G

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G T 11: 72,082,423 (GRCm39) A301E possibly damaging Het
C4b A T 17: 34,957,984 (GRCm39) probably benign Het
Cep85 A G 4: 133,894,698 (GRCm39) V36A probably damaging Het
Cnot10 A T 9: 114,451,998 (GRCm39) F259L probably damaging Het
Crim1 T C 17: 78,680,004 (GRCm39) probably benign Het
Crispld1 G A 1: 17,817,744 (GRCm39) A216T probably damaging Het
Cyp8b1 T C 9: 121,744,058 (GRCm39) I425V probably benign Het
Fat2 A T 11: 55,173,666 (GRCm39) V2349D probably damaging Het
Fer G T 17: 64,231,174 (GRCm39) probably null Het
Galnt3 T C 2: 65,926,270 (GRCm39) T313A probably damaging Het
Hsd3b9 T A 3: 98,363,735 (GRCm39) R37W probably damaging Het
Igkv10-94 A T 6: 68,681,928 (GRCm39) L12* probably null Het
Kcnj3 G A 2: 55,327,243 (GRCm39) D11N probably benign Het
Kit T A 5: 75,781,674 (GRCm39) S368T probably benign Het
Mark1 G A 1: 184,644,786 (GRCm39) S390L possibly damaging Het
Mpped1 C A 15: 83,684,357 (GRCm39) S126R probably damaging Het
Myh15 A C 16: 48,930,892 (GRCm39) probably benign Het
Nat1 G A 8: 67,943,878 (GRCm39) E85K probably benign Het
Or9q1 T C 19: 13,805,427 (GRCm39) D111G possibly damaging Het
Pde3b A T 7: 114,118,852 (GRCm39) M664L possibly damaging Het
Phrf1 A G 7: 140,840,246 (GRCm39) D1147G probably benign Het
Pth1r G T 9: 110,571,376 (GRCm39) probably benign Het
Shank3 C T 15: 89,387,502 (GRCm39) probably benign Het
Slc39a7 A C 17: 34,250,095 (GRCm39) probably benign Het
Slc6a1 A G 6: 114,291,286 (GRCm39) T520A probably benign Het
St3gal2 C A 8: 111,696,804 (GRCm39) A317E probably damaging Het
St3gal3 C A 4: 117,817,236 (GRCm39) L139F possibly damaging Het
Sval3 T A 6: 41,949,776 (GRCm39) probably benign Het
Syvn1 G A 19: 6,102,437 (GRCm39) A502T probably benign Het
Tm4sf1 T C 3: 57,200,499 (GRCm39) I68V possibly damaging Het
Tnrc6a T A 7: 122,780,589 (GRCm39) N1326K possibly damaging Het
Tvp23b G A 11: 62,782,826 (GRCm39) C174Y probably damaging Het
Other mutations in Zfp750
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Zfp750 APN 11 121,403,922 (GRCm39) missense probably benign 0.07
IGL01450:Zfp750 APN 11 121,403,855 (GRCm39) missense probably benign
IGL01467:Zfp750 APN 11 121,403,767 (GRCm39) nonsense probably null
IGL01538:Zfp750 APN 11 121,402,991 (GRCm39) missense probably benign 0.02
IGL01732:Zfp750 APN 11 121,403,819 (GRCm39) missense probably benign 0.01
IGL01793:Zfp750 APN 11 121,404,810 (GRCm39) missense probably damaging 1.00
IGL02334:Zfp750 APN 11 121,402,837 (GRCm39) missense probably benign 0.03
IGL02441:Zfp750 APN 11 121,404,455 (GRCm39) missense probably benign 0.00
IGL03173:Zfp750 APN 11 121,404,651 (GRCm39) nonsense probably null
IGL03229:Zfp750 APN 11 121,403,778 (GRCm39) missense possibly damaging 0.87
IGL03244:Zfp750 APN 11 121,404,513 (GRCm39) nonsense probably null
IGL03351:Zfp750 APN 11 121,404,173 (GRCm39) missense probably damaging 1.00
IGL03390:Zfp750 APN 11 121,402,770 (GRCm39) nonsense probably null
P0016:Zfp750 UTSW 11 121,404,804 (GRCm39) nonsense probably null
R0800:Zfp750 UTSW 11 121,402,838 (GRCm39) missense probably benign
R0900:Zfp750 UTSW 11 121,403,807 (GRCm39) missense probably benign 0.31
R1444:Zfp750 UTSW 11 121,402,873 (GRCm39) missense probably damaging 1.00
R1470:Zfp750 UTSW 11 121,402,819 (GRCm39) missense probably benign
R1470:Zfp750 UTSW 11 121,402,819 (GRCm39) missense probably benign
R2008:Zfp750 UTSW 11 121,403,951 (GRCm39) missense possibly damaging 0.92
R2009:Zfp750 UTSW 11 121,403,951 (GRCm39) missense possibly damaging 0.92
R2134:Zfp750 UTSW 11 121,404,758 (GRCm39) missense probably damaging 1.00
R2415:Zfp750 UTSW 11 121,403,305 (GRCm39) missense probably benign 0.01
R2912:Zfp750 UTSW 11 121,403,153 (GRCm39) missense probably benign 0.00
R3611:Zfp750 UTSW 11 121,402,981 (GRCm39) missense probably benign 0.03
R4648:Zfp750 UTSW 11 121,402,706 (GRCm39) missense probably benign 0.00
R5068:Zfp750 UTSW 11 121,403,021 (GRCm39) missense probably benign 0.02
R5487:Zfp750 UTSW 11 121,404,558 (GRCm39) missense probably benign 0.00
R7953:Zfp750 UTSW 11 121,402,706 (GRCm39) missense probably benign 0.00
R8013:Zfp750 UTSW 11 121,403,843 (GRCm39) missense possibly damaging 0.83
R8014:Zfp750 UTSW 11 121,403,843 (GRCm39) missense possibly damaging 0.83
R8043:Zfp750 UTSW 11 121,402,706 (GRCm39) missense probably benign 0.00
R8351:Zfp750 UTSW 11 121,404,135 (GRCm39) missense probably benign 0.01
R8451:Zfp750 UTSW 11 121,404,135 (GRCm39) missense probably benign 0.01
R8694:Zfp750 UTSW 11 121,404,456 (GRCm39) missense possibly damaging 0.57
R9029:Zfp750 UTSW 11 121,403,149 (GRCm39) missense probably benign 0.08
R9128:Zfp750 UTSW 11 121,404,674 (GRCm39) missense probably benign 0.30
R9166:Zfp750 UTSW 11 121,403,980 (GRCm39) missense probably damaging 1.00
R9429:Zfp750 UTSW 11 121,404,693 (GRCm39) missense probably damaging 1.00
X0057:Zfp750 UTSW 11 121,404,104 (GRCm39) missense probably damaging 0.96
Posted On 2014-05-07