Incidental Mutation 'IGL01990:Zfp551'
ID182033
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp551
Ensembl Gene ENSMUSG00000034071
Gene Namezinc fingr protein 551
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL01990
Quality Score
Status
Chromosome7
Chromosomal Location12415153-12422751 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 12422416 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 25 (V25M)
Ref Sequence ENSEMBL: ENSMUSP00000079222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080348] [ENSMUST00000120220]
Predicted Effect possibly damaging
Transcript: ENSMUST00000080348
AA Change: V25M

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000079222
Gene: ENSMUSG00000034071
AA Change: V25M

DomainStartEndE-ValueType
KRAB 48 109 2.3e-14 SMART
ZnF_C2H2 337 359 2.57e-3 SMART
ZnF_C2H2 365 387 1.47e-3 SMART
ZnF_C2H2 393 415 3.69e-4 SMART
ZnF_C2H2 421 443 1.22e-4 SMART
ZnF_C2H2 449 471 3.11e-2 SMART
ZnF_C2H2 477 499 3.44e-4 SMART
ZnF_C2H2 505 527 9.73e-4 SMART
ZnF_C2H2 533 555 1.6e-4 SMART
ZnF_C2H2 561 583 1.38e-3 SMART
ZnF_C2H2 589 611 8.47e-4 SMART
ZnF_C2H2 617 639 6.99e-5 SMART
ZnF_C2H2 645 667 2.09e-3 SMART
ZnF_C2H2 673 695 1.98e-4 SMART
Predicted Effect unknown
Transcript: ENSMUST00000120220
AA Change: V25M
Predicted Effect unknown
Transcript: ENSMUST00000123877
AA Change: V8M
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl9 A G 17: 33,434,094 N376S probably benign Het
Adgrv1 T C 13: 81,556,996 D1565G probably damaging Het
Atf5 T G 7: 44,813,049 D217A probably damaging Het
Azgp1 T C 5: 137,989,735 W260R probably damaging Het
Cnr2 C T 4: 135,916,805 R65C probably damaging Het
Col14a1 A G 15: 55,363,463 Y203C unknown Het
Colec11 A G 12: 28,594,986 Y170H probably benign Het
Exosc10 A G 4: 148,566,410 Q471R possibly damaging Het
Gal3st1 G T 11: 3,998,741 W316L probably damaging Het
Igfbp3 C A 11: 7,208,504 R253L probably damaging Het
Kcnb2 A T 1: 15,312,954 D168V probably benign Het
Khnyn T G 14: 55,887,588 I433S possibly damaging Het
Naaa T A 5: 92,268,063 T193S possibly damaging Het
Nsun7 G A 5: 66,261,073 D49N probably damaging Het
Pappa T C 4: 65,156,687 probably benign Het
Pfkfb2 A G 1: 130,705,370 probably benign Het
Pkd1l3 C T 8: 109,660,806 T1794I probably damaging Het
Prex2 A C 1: 11,123,233 probably benign Het
Slc2a7 T G 4: 150,154,684 I122S possibly damaging Het
Slc31a2 A G 4: 62,295,970 K53E probably benign Het
Slc35f4 C T 14: 49,304,169 probably null Het
Slc38a7 C T 8: 95,844,962 W213* probably null Het
Slc5a4b T C 10: 76,060,354 E589G probably benign Het
Syne2 A G 12: 76,054,933 N5407S probably damaging Het
Tgm2 A T 2: 158,124,131 D534E probably benign Het
Ugt1a7c A G 1: 88,095,602 Y161C probably damaging Het
Vmn2r114 A G 17: 23,310,381 M249T probably benign Het
Xkr9 A G 1: 13,700,979 I240V probably benign Het
Zfat A G 15: 68,224,817 L49P probably damaging Het
Zfhx2 G T 14: 55,073,590 P549H probably damaging Het
Other mutations in Zfp551
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01470:Zfp551 APN 7 12418541 critical splice donor site probably null
IGL02511:Zfp551 APN 7 12416675 missense possibly damaging 0.70
R2001:Zfp551 UTSW 7 12416349 missense probably damaging 1.00
R3120:Zfp551 UTSW 7 12416016 missense possibly damaging 0.94
R4256:Zfp551 UTSW 7 12416391 missense possibly damaging 0.95
R4387:Zfp551 UTSW 7 12418641 missense probably damaging 1.00
R5314:Zfp551 UTSW 7 12416160 nonsense probably null
R5536:Zfp551 UTSW 7 12415561 missense possibly damaging 0.86
R5874:Zfp551 UTSW 7 12416174 missense probably damaging 1.00
R6265:Zfp551 UTSW 7 12415412 missense probably damaging 1.00
R6765:Zfp551 UTSW 7 12416840 missense possibly damaging 0.85
R6803:Zfp551 UTSW 7 12417181 nonsense probably null
R6953:Zfp551 UTSW 7 12416788 nonsense probably null
R7334:Zfp551 UTSW 7 12416754 missense probably damaging 0.97
R7345:Zfp551 UTSW 7 12416595 missense probably benign
R7502:Zfp551 UTSW 7 12415798 nonsense probably null
R7772:Zfp551 UTSW 7 12418608 missense probably damaging 0.98
R7776:Zfp551 UTSW 7 12418642 missense probably damaging 1.00
R7999:Zfp551 UTSW 7 12417211 nonsense probably null
R8032:Zfp551 UTSW 7 12418560 missense possibly damaging 0.82
Posted On2014-05-07