Incidental Mutation 'IGL02511:Zfp551'
ID296533
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: 0.087) question?
Stock #IGL02511
Quality Score
Status
Chromosome7
Chromosomal Location12415153-12422751 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 12416675 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 269 (V269A)
Ref Sequence ENSEMBL: ENSMUSP00000079222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080348] [ENSMUST00000120220]
Predicted Effect possibly damaging
Transcript: ENSMUST00000080348
AA Change: V269A

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000079222
Gene: ENSMUSG00000034071
AA Change: V269A

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 probably benign
Transcript: ENSMUST00000120220
Predicted Effect probably benign
Transcript: ENSMUST00000123877
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl A T 2: 93,861,766 probably benign Het
Adam3 T A 8: 24,695,176 D502V probably damaging Het
Adss T C 1: 177,771,134 probably benign Het
Ankrd36 T A 11: 5,660,845 probably null Het
Atf6b T C 17: 34,654,641 S692P probably benign Het
Cap2 T C 13: 46,531,022 M1T probably null Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cntn1 A T 15: 92,216,385 probably benign Het
Copg2 A T 6: 30,858,822 F218Y probably benign Het
Dll4 G A 2: 119,326,466 G73E probably damaging Het
Dzip3 T C 16: 48,936,980 M897V possibly damaging Het
Ehbp1 T C 11: 22,089,653 R816G probably damaging Het
Enoph1 T C 5: 100,061,035 L83P probably benign Het
Enpep A G 3: 129,321,410 S238P probably damaging Het
Fermt1 A C 2: 132,933,166 probably benign Het
Gm6619 T A 6: 131,490,367 I65K possibly damaging Het
Krtap31-2 T A 11: 99,936,692 C117S possibly damaging Het
Ksr1 T C 11: 79,045,220 D106G possibly damaging Het
Lgr4 A T 2: 110,011,272 Y534F probably benign Het
Mamdc2 T C 19: 23,378,731 T118A probably benign Het
Myo10 T A 15: 25,723,889 I170N probably damaging Het
Myom2 T C 8: 15,065,743 S53P probably benign Het
Npl T A 1: 153,515,481 D176V probably damaging Het
Nrm T C 17: 35,861,424 S14P probably damaging Het
Olfr1043 A G 2: 86,162,019 I310T probably benign Het
Olfr111 A G 17: 37,529,979 M1V probably null Het
Olfr495 T A 7: 108,396,058 F313I probably benign Het
Papola T A 12: 105,809,345 C204S probably damaging Het
Pard3 A T 8: 127,161,320 probably benign Het
Pdzd4 T A X: 73,794,600 M701L probably damaging Het
Pkhd1 A T 1: 20,073,507 V3865E possibly damaging Het
Plxna3 C A X: 74,335,385 Q712K probably damaging Het
Pon1 A G 6: 5,193,724 L9P probably damaging Het
Pygm A T 19: 6,385,688 I83F probably benign Het
Scyl2 A G 10: 89,640,819 S815P probably benign Het
Serpina1a C T 12: 103,855,967 W212* probably null Het
Slc38a9 C A 13: 112,698,007 D239E possibly damaging Het
Smad6 A G 9: 63,953,577 F479L probably damaging Het
Smarcc2 T C 10: 128,461,382 S48P probably damaging Het
Ttn T A 2: 76,937,690 M3022L unknown Het
Tulp1 C A 17: 28,356,168 R441L probably benign Het
Ugt1a10 T C 1: 88,055,863 F128L probably damaging Het
Ulk4 A G 9: 121,188,354 V686A probably damaging Het
Ush2a T C 1: 188,743,687 probably null Het
Ushbp1 T C 8: 71,390,937 M286V probably null Het
Usp51 T G X: 153,008,730 I440R probably damaging Het
Wee1 G T 7: 110,139,276 R532L possibly damaging Het
Zfhx4 A G 3: 5,399,183 E1467G probably damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Other mutations in Zfp551
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01470:Zfp551 APN 7 12418541 critical splice donor site probably null
IGL01990:Zfp551 APN 7 12422416 missense possibly damaging 0.90
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
Posted On2015-04-16