Incidental Mutation 'IGL01528:Zfp553'
ID278556
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp553
Ensembl Gene ENSMUSG00000045598
Gene Namezinc finger protein 553
SynonymsC330013F15Rik, ENSMUSG00000054461, 2600009K23Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01528
Quality Score
Status
Chromosome7
Chromosomal Location127233061-127238179 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 127236215 bp
ZygosityHeterozygous
Amino Acid Change Serine to Isoleucine at position 314 (S314I)
Ref Sequence ENSEMBL: ENSMUSP00000101919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056232] [ENSMUST00000106312] [ENSMUST00000133913]
Predicted Effect probably damaging
Transcript: ENSMUST00000056232
AA Change: S314I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000060967
Gene: ENSMUSG00000045598
AA Change: S314I

DomainStartEndE-ValueType
ZnF_C2H2 83 105 5.9e-3 SMART
ZnF_C2H2 111 133 6.32e-3 SMART
low complexity region 140 155 N/A INTRINSIC
ZnF_C2H2 163 185 4.17e-3 SMART
ZnF_C2H2 191 213 5.5e-3 SMART
low complexity region 219 239 N/A INTRINSIC
ZnF_C2H2 246 268 1.45e-2 SMART
ZnF_C2H2 274 296 4.17e-3 SMART
ZnF_C2H2 302 324 3.89e-3 SMART
ZnF_C2H2 330 352 1.36e-2 SMART
low complexity region 364 392 N/A INTRINSIC
low complexity region 394 419 N/A INTRINSIC
ZnF_C2H2 423 445 3.21e-4 SMART
ZnF_C2H2 451 473 3.89e-3 SMART
low complexity region 477 494 N/A INTRINSIC
ZnF_C2H2 516 538 9.08e-4 SMART
ZnF_C2H2 544 566 5.42e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106312
AA Change: S314I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101919
Gene: ENSMUSG00000045598
AA Change: S314I

DomainStartEndE-ValueType
ZnF_C2H2 83 105 5.9e-3 SMART
ZnF_C2H2 111 133 6.32e-3 SMART
low complexity region 140 155 N/A INTRINSIC
ZnF_C2H2 163 185 4.17e-3 SMART
ZnF_C2H2 191 213 5.5e-3 SMART
low complexity region 219 239 N/A INTRINSIC
ZnF_C2H2 246 268 1.45e-2 SMART
ZnF_C2H2 274 296 4.17e-3 SMART
ZnF_C2H2 302 324 3.89e-3 SMART
ZnF_C2H2 330 352 1.36e-2 SMART
low complexity region 364 392 N/A INTRINSIC
low complexity region 394 419 N/A INTRINSIC
ZnF_C2H2 423 445 3.21e-4 SMART
ZnF_C2H2 451 473 3.89e-3 SMART
low complexity region 477 494 N/A INTRINSIC
ZnF_C2H2 516 538 9.08e-4 SMART
ZnF_C2H2 544 566 5.42e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205367
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205570
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit complete embryonic lethality during organogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T A 9: 21,539,894 probably benign Het
Cdc45 A G 16: 18,811,561 F2S probably damaging Het
Cdon A G 9: 35,470,107 R598G possibly damaging Het
Dusp22 C T 13: 30,705,628 T64I probably benign Het
Gfer T A 17: 24,695,929 T47S probably benign Het
Gfra2 T C 14: 70,966,298 S296P possibly damaging Het
Gjb2 G A 14: 57,100,668 L28F probably damaging Het
Gm17782 A G 17: 36,161,790 probably benign Het
Gm2832 T C 14: 41,281,713 V167A unknown Het
Gpr155 A G 2: 73,362,423 probably null Het
Gpr45 A G 1: 43,033,223 H342R probably benign Het
Gsdmd A T 15: 75,863,505 T33S possibly damaging Het
Hal T A 10: 93,497,593 L341Q probably damaging Het
Igfbp7 T G 5: 77,351,332 D273A probably damaging Het
Kdm2a T C 19: 4,343,055 D424G probably benign Het
Kif13a C T 13: 46,864,837 probably benign Het
Krt35 A T 11: 100,094,594 L207Q probably damaging Het
Lrp1b A T 2: 40,919,182 D2572E probably damaging Het
Lrp2 A G 2: 69,492,460 V1848A probably damaging Het
Myo9a T C 9: 59,779,674 Y21H probably damaging Het
Ncan G T 8: 70,110,081 A509E probably benign Het
Olfr450 T C 6: 42,818,274 S268P probably damaging Het
Pde11a G A 2: 76,194,956 probably benign Het
Phf19 G T 2: 34,897,107 D448E probably damaging Het
Ptprj A T 2: 90,452,144 V799D probably damaging Het
Rpgrip1 T A 14: 52,112,177 Y7* probably null Het
Sema3c A G 5: 17,714,415 H483R probably benign Het
Slc4a11 A G 2: 130,685,408 probably benign Het
St3gal1 C A 15: 67,112,617 R103L probably benign Het
Tet2 A T 3: 133,480,298 V1126E possibly damaging Het
Tmem117 A T 15: 95,094,664 I402L probably benign Het
Tmem2 T C 19: 21,835,545 V1038A possibly damaging Het
Ttc28 T A 5: 111,101,960 probably benign Het
Ttn A T 2: 76,871,838 probably benign Het
Vmn1r7 T A 6: 57,024,547 M243L probably benign Het
Wnt1 G T 15: 98,791,833 W167L probably damaging Het
Zranb2 T C 3: 157,544,965 probably benign Het
Other mutations in Zfp553
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01501:Zfp553 APN 7 127236215 missense probably damaging 1.00
IGL03228:Zfp553 APN 7 127236077 missense probably damaging 1.00
R1051:Zfp553 UTSW 7 127236805 nonsense probably null
R1859:Zfp553 UTSW 7 127235345 missense probably benign 0.04
R1899:Zfp553 UTSW 7 127235654 missense possibly damaging 0.66
R4997:Zfp553 UTSW 7 127235511 missense probably benign 0.15
R5090:Zfp553 UTSW 7 127235487 missense probably damaging 0.98
R5282:Zfp553 UTSW 7 127236841 missense probably benign 0.12
R5468:Zfp553 UTSW 7 127237030 missense probably benign
R5576:Zfp553 UTSW 7 127236703 missense possibly damaging 0.80
R6334:Zfp553 UTSW 7 127236892 unclassified probably null
R6828:Zfp553 UTSW 7 127236275 missense probably damaging 1.00
R6974:Zfp553 UTSW 7 127236653 missense probably damaging 1.00
R7149:Zfp553 UTSW 7 127236433 missense possibly damaging 0.94
R7615:Zfp553 UTSW 7 127236016 missense probably damaging 1.00
Z1088:Zfp553 UTSW 7 127235498 missense probably damaging 1.00
Posted On2015-04-16