Incidental Mutation 'IGL01446:Zfp800'
ID84419
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp800
Ensembl Gene ENSMUSG00000039841
Gene Namezinc finger protein 800
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.506) question?
Stock #IGL01446
Quality Score
Status
Chromosome6
Chromosomal Location28239927-28398005 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 28242984 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 661 (L661F)
Ref Sequence ENSEMBL: ENSMUSP00000110976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035930] [ENSMUST00000115320] [ENSMUST00000115321] [ENSMUST00000123098] [ENSMUST00000155494]
Predicted Effect possibly damaging
Transcript: ENSMUST00000035930
AA Change: L661F

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000039222
Gene: ENSMUSG00000039841
AA Change: L661F

DomainStartEndE-ValueType
ZnF_C2H2 69 89 8.18e1 SMART
low complexity region 203 217 N/A INTRINSIC
ZnF_C2H2 231 254 3.83e-2 SMART
ZnF_C2H2 288 311 1.76e-1 SMART
ZnF_C2H2 359 382 1.76e-1 SMART
low complexity region 455 469 N/A INTRINSIC
ZnF_C2H2 484 506 2.36e-2 SMART
ZnF_C2H2 517 540 5.14e-3 SMART
ZnF_C2H2 616 638 1.67e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000115320
AA Change: L661F

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110975
Gene: ENSMUSG00000039841
AA Change: L661F

DomainStartEndE-ValueType
ZnF_C2H2 69 89 8.18e1 SMART
low complexity region 203 217 N/A INTRINSIC
ZnF_C2H2 231 254 3.83e-2 SMART
ZnF_C2H2 288 311 1.76e-1 SMART
ZnF_C2H2 359 382 1.76e-1 SMART
Pfam:zf-C2H2_assoc2 391 483 2.9e-38 PFAM
ZnF_C2H2 484 506 2.36e-2 SMART
ZnF_C2H2 517 540 5.14e-3 SMART
ZnF_C2H2 616 638 1.67e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000115321
AA Change: L661F

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110976
Gene: ENSMUSG00000039841
AA Change: L661F

DomainStartEndE-ValueType
ZnF_C2H2 69 89 8.18e1 SMART
low complexity region 203 217 N/A INTRINSIC
ZnF_C2H2 231 254 3.83e-2 SMART
ZnF_C2H2 288 311 1.76e-1 SMART
ZnF_C2H2 359 382 1.76e-1 SMART
low complexity region 455 469 N/A INTRINSIC
ZnF_C2H2 484 506 2.36e-2 SMART
ZnF_C2H2 517 540 5.14e-3 SMART
ZnF_C2H2 616 638 1.67e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123098
SMART Domains Protein: ENSMUSP00000114604
Gene: ENSMUSG00000039841

DomainStartEndE-ValueType
ZnF_C2H2 69 89 8.18e1 SMART
low complexity region 203 217 N/A INTRINSIC
ZnF_C2H2 231 254 3.83e-2 SMART
ZnF_C2H2 288 311 1.76e-1 SMART
ZnF_C2H2 359 382 1.76e-1 SMART
low complexity region 455 469 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143099
SMART Domains Protein: ENSMUSP00000133161
Gene: ENSMUSG00000043340

DomainStartEndE-ValueType
low complexity region 34 48 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155494
SMART Domains Protein: ENSMUSP00000120392
Gene: ENSMUSG00000039841

DomainStartEndE-ValueType
Pfam:zf-C2H2_6 68 94 1.9e-10 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,403,834 T3719A probably damaging Het
Acaca A G 11: 84,260,631 K785R probably damaging Het
Acsm3 G A 7: 119,778,454 V401M probably damaging Het
Aff4 G T 11: 53,415,469 R1146L probably damaging Het
Alms1 C A 6: 85,696,701 P3562T probably damaging Het
Arsj A G 3: 126,438,814 E403G probably benign Het
Baiap2l1 C T 5: 144,275,913 V431I probably benign Het
Cecr2 T A 6: 120,758,599 M904K probably benign Het
Cenpe A T 3: 135,237,539 T775S probably benign Het
Dennd1b G A 1: 139,023,110 E30K possibly damaging Het
Dnah5 A G 15: 28,326,669 D2008G probably damaging Het
Dnm2 T C 9: 21,481,376 V460A probably damaging Het
Ell2 G T 13: 75,761,991 L285F probably benign Het
Erg A G 16: 95,361,282 S322P probably damaging Het
Extl3 A G 14: 65,077,080 F218L probably benign Het
Fam84a A T 12: 14,149,928 I266N probably damaging Het
Fzd9 T C 5: 135,250,566 E155G probably damaging Het
Ghr A G 15: 3,333,355 W212R probably damaging Het
Gulp1 A G 1: 44,744,548 probably benign Het
Hdgfl2 C T 17: 56,097,281 R332C possibly damaging Het
Nsd2 T C 5: 33,861,186 probably benign Het
Olfr1259 A G 2: 89,943,938 F59S probably damaging Het
Olfr1441 T C 19: 12,422,801 I164T possibly damaging Het
Olfr1480 C T 19: 13,530,252 T237I probably benign Het
Phf11b A C 14: 59,341,291 S9A probably benign Het
Psd4 T C 2: 24,405,395 S854P probably damaging Het
Reln C T 5: 21,969,317 D1963N probably damaging Het
Rpe65 T A 3: 159,600,405 probably benign Het
Sdccag8 T C 1: 176,845,245 S235P probably damaging Het
Sgip1 G T 4: 102,928,913 probably null Het
Skint5 G A 4: 113,942,822 P36L probably damaging Het
Slc26a3 G T 12: 31,452,491 probably benign Het
Snx13 T A 12: 35,124,480 C669* probably null Het
Svil A T 18: 5,062,385 T902S probably damaging Het
Syne2 T C 12: 76,041,375 S4989P probably damaging Het
Ttn G A 2: 76,809,939 T13775M probably damaging Het
Ubr4 T C 4: 139,438,040 probably benign Het
Ush1c C T 7: 46,208,956 R636H possibly damaging Het
Usp17lc A T 7: 103,418,444 R315S probably benign Het
Vmn1r236 T A 17: 21,286,656 V12D probably benign Het
Wsb2 T G 5: 117,371,164 I170S probably damaging Het
Other mutations in Zfp800
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Zfp800 APN 6 28243038 missense probably benign
IGL01462:Zfp800 APN 6 28242984 missense possibly damaging 0.87
R0195:Zfp800 UTSW 6 28243847 missense probably damaging 0.99
R1942:Zfp800 UTSW 6 28243273 missense probably benign 0.00
R4204:Zfp800 UTSW 6 28243181 missense probably benign
R4981:Zfp800 UTSW 6 28247191 missense probably damaging 1.00
R5281:Zfp800 UTSW 6 28243166 missense probably benign 0.05
R5339:Zfp800 UTSW 6 28256473 missense probably damaging 1.00
R5391:Zfp800 UTSW 6 28242993 missense probably damaging 0.97
R5614:Zfp800 UTSW 6 28243136 missense probably damaging 1.00
R5665:Zfp800 UTSW 6 28244513 missense probably null 0.10
R6349:Zfp800 UTSW 6 28244602 nonsense probably null
R6458:Zfp800 UTSW 6 28244216 missense probably damaging 1.00
R7219:Zfp800 UTSW 6 28243663 missense probably benign 0.00
R7263:Zfp800 UTSW 6 28243663 missense probably benign 0.00
R7420:Zfp800 UTSW 6 28243719 missense probably benign
R7457:Zfp800 UTSW 6 28244229 missense probably benign 0.00
R7582:Zfp800 UTSW 6 28244090 missense probably damaging 1.00
R7597:Zfp800 UTSW 6 28260765 missense probably damaging 1.00
R7685:Zfp800 UTSW 6 28244194 missense probably damaging 1.00
R8321:Zfp800 UTSW 6 28242993 missense probably damaging 1.00
Posted On2013-11-11