Incidental Mutation 'IGL01467:Zfp750'
ID88125
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: 0.580) question?
Stock #IGL01467
Quality Score
Status
Chromosome11
Chromosomal Location121510978-121519333 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 121512941 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 369 (C369*)
Ref Sequence ENSEMBL: ENSMUSP00000089951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092298] [ENSMUST00000103013]
Predicted Effect probably null
Transcript: ENSMUST00000092298
AA Change: C369*
SMART Domains Protein: ENSMUSP00000089951
Gene: ENSMUSG00000039238
AA Change: C369*

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1a A G 5: 121,519,728 C501R probably damaging Het
Atxn1 C T 13: 45,567,193 V409I probably damaging Het
Cdkn2aip T C 8: 47,711,212 R489G probably damaging Het
Cgn A G 3: 94,779,588 S135P probably damaging Het
Cpne3 C A 4: 19,553,737 C98F probably benign Het
Cyp2c23 T C 19: 44,015,073 N221S possibly damaging Het
Dnah8 A G 17: 30,779,916 N3525S probably damaging Het
Efr3b T C 12: 3,969,597 E560G probably damaging Het
Eif2b5 C A 16: 20,508,964 C154* probably null Het
Eps8l2 A G 7: 141,361,601 E595G probably damaging Het
Gm8394 A G 10: 85,314,122 noncoding transcript Het
Gm9839 A T 1: 32,519,951 I350N probably damaging Het
Hdlbp A T 1: 93,417,698 probably benign Het
Il18rap A T 1: 40,548,639 I466F probably damaging Het
Itpr1 T A 6: 108,488,496 I2123N probably damaging Het
Jakmip2 A G 18: 43,582,287 I58T probably benign Het
Kdm2a A G 19: 4,324,407 S899P probably damaging Het
Mmp15 T A 8: 95,366,331 F113I probably benign Het
Neb T C 2: 52,159,487 H6448R possibly damaging Het
Olfr165 T C 16: 19,407,789 T77A probably benign Het
Olfr340 C T 2: 36,452,644 R20* probably null Het
Pdgfc A G 3: 81,209,091 T251A probably damaging Het
Pdgfra T C 5: 75,185,631 probably null Het
Pdpk1 A G 17: 24,088,170 S269P probably damaging Het
Pip4k2c A T 10: 127,199,629 F347L probably benign Het
Platr26 T C 2: 71,723,312 noncoding transcript Het
Pnisr C T 4: 21,874,650 probably benign Het
Rab3gap1 T A 1: 127,930,384 probably null Het
Scn10a C T 9: 119,658,412 V619I probably benign Het
Slc38a11 T A 2: 65,316,856 T426S probably benign Het
Son T C 16: 91,657,277 S971P possibly damaging Het
Stk33 T A 7: 109,329,589 I239L probably damaging Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tmem270 G T 5: 134,901,961 probably benign Het
Vmn2r4 A T 3: 64,406,395 N388K 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
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
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
X0057:Zfp750 UTSW 11 121513278 missense probably damaging 0.96
Posted On2013-11-18