Incidental Mutation 'IGL02441:Zfp750'
ID 293974
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 # IGL02441
Quality Score
Status
Chromosome 11
Chromosomal Location 121401804-121410159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121404455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 140 (I140T)
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: I140T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000089951
Gene: ENSMUSG00000039238
AA Change: I140T

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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg8 C T 7: 97,029,504 (GRCm39) R179C probably benign Het
Als2 A G 1: 59,254,631 (GRCm39) M242T probably damaging Het
Atad1 C T 19: 32,684,348 (GRCm39) V17I probably benign Het
Bag4 A G 8: 26,258,136 (GRCm39) V397A probably damaging Het
Brd7 A G 8: 89,070,218 (GRCm39) V396A probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdhr4 T A 9: 107,870,466 (GRCm39) I123N possibly damaging Het
Cep68 A G 11: 20,189,186 (GRCm39) F609L probably benign Het
Clec3b C A 9: 122,980,178 (GRCm39) P24T possibly damaging Het
Ctsg T A 14: 56,339,869 (GRCm39) T9S probably benign Het
Dalrd3 A T 9: 108,448,725 (GRCm39) probably benign Het
Dock6 A T 9: 21,753,222 (GRCm39) V286E possibly damaging Het
Dpep2 G A 8: 106,711,723 (GRCm39) A568V probably benign Het
Dph5 A C 3: 115,720,390 (GRCm39) Q192P possibly damaging Het
Eppin T A 2: 164,433,698 (GRCm39) R37* probably null Het
Esyt1 A G 10: 128,348,293 (GRCm39) L865P possibly damaging Het
Exoc6b A G 6: 84,981,990 (GRCm39) L102P probably damaging Het
Foxo6 A G 4: 120,125,232 (GRCm39) I521T possibly damaging Het
Guca1a A T 17: 47,705,578 (GRCm39) probably benign Het
Hpx A G 7: 105,241,430 (GRCm39) F327S probably damaging Het
Hspa12b A G 2: 130,980,515 (GRCm39) M145V probably null Het
Hspa4 A T 11: 53,161,809 (GRCm39) S448T probably benign Het
Kbtbd6 T C 14: 79,690,759 (GRCm39) Y422H probably benign Het
Lama4 A T 10: 38,937,441 (GRCm39) D677V probably benign Het
Ldb1 C T 19: 46,024,195 (GRCm39) E111K probably damaging Het
Macf1 A G 4: 123,281,029 (GRCm39) S3823P probably damaging Het
Man1a2 G A 3: 100,499,189 (GRCm39) T415I probably benign Het
Map3k2 T C 18: 32,333,099 (GRCm39) probably benign Het
Morn5 T A 2: 35,945,038 (GRCm39) Y87* probably null Het
Mpp3 T C 11: 101,900,501 (GRCm39) D326G probably benign Het
Mrgprx1 T C 7: 47,671,336 (GRCm39) H137R probably benign Het
Nav2 C A 7: 49,102,260 (GRCm39) P292T probably damaging Het
Nlrp2 C A 7: 5,338,566 (GRCm39) probably null Het
Noxo1 G A 17: 24,918,030 (GRCm39) S112N probably damaging Het
Nudt9 G T 5: 104,212,885 (GRCm39) K319N probably benign Het
Or8b38 A T 9: 37,973,233 (GRCm39) I206L probably benign Het
Osbpl7 C A 11: 96,958,528 (GRCm39) Q728K probably damaging Het
Pcsk1 A T 13: 75,280,282 (GRCm39) E702D probably benign Het
Piezo2 T C 18: 63,205,933 (GRCm39) D1492G probably damaging Het
Plekhg1 A G 10: 3,908,103 (GRCm39) K1007E possibly damaging Het
Ppp6r3 G A 19: 3,514,693 (GRCm39) P141S probably benign Het
Prrt3 T C 6: 113,473,977 (GRCm39) T354A probably damaging Het
Ptk2 C A 15: 73,192,675 (GRCm39) W181L probably benign Het
Rif1 T A 2: 51,995,527 (GRCm39) H915Q probably benign Het
Selenbp2 G T 3: 94,611,371 (GRCm39) V361L probably benign Het
Slamf7 A G 1: 171,468,625 (GRCm39) L89P probably damaging Het
Slc6a21 G A 7: 44,937,505 (GRCm39) V599M probably damaging Het
Sltm G T 9: 70,494,467 (GRCm39) S921I probably damaging Het
Smc4 C A 3: 68,913,544 (GRCm39) A44E probably damaging Het
Tdrd5 A T 1: 156,087,513 (GRCm39) probably benign Het
Tead2 T A 7: 44,866,845 (GRCm39) I68N probably damaging Het
Tnks1bp1 T A 2: 84,902,143 (GRCm39) S1680T probably damaging Het
Topbp1 T C 9: 103,197,438 (GRCm39) V386A possibly damaging Het
Tpx2 C A 2: 152,724,207 (GRCm39) P328T possibly damaging Het
Ttn T A 2: 76,576,332 (GRCm39) I24854F probably damaging Het
Zbtb11 G A 16: 55,794,552 (GRCm39) R43H possibly damaging Het
Zfp609 A G 9: 65,610,611 (GRCm39) L784S possibly damaging Het
Zfp703 T C 8: 27,470,036 (GRCm39) S567P 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
IGL02004:Zfp750 APN 11 121,402,975 (GRCm39) missense probably benign 0.00
IGL02334:Zfp750 APN 11 121,402,837 (GRCm39) missense probably benign 0.03
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 2015-04-16