Incidental Mutation 'R8111:Zfp553'
ID630872
Institutional Source Beutler Lab
Gene Symbol Zfp553
Ensembl Gene ENSMUSG00000045598
Gene Namezinc finger protein 553
SynonymsC330013F15Rik, ENSMUSG00000054461, 2600009K23Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R8111 (G1)
Quality Score225.009
Status Not validated
Chromosome7
Chromosomal Location127233061-127238179 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 127236921 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 549 (C549*)
Ref Sequence ENSEMBL: ENSMUSP00000060967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056232] [ENSMUST00000106312] [ENSMUST00000133913]
Predicted Effect probably null
Transcript: ENSMUST00000056232
AA Change: C549*
SMART Domains Protein: ENSMUSP00000060967
Gene: ENSMUSG00000045598
AA Change: C549*

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 null
Transcript: ENSMUST00000106312
AA Change: C549*
SMART Domains Protein: ENSMUSP00000101919
Gene: ENSMUSG00000045598
AA Change: C549*

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 93.2%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik C T 14: 32,660,309 W1233* probably null Het
4930590J08Rik A G 6: 91,917,710 I247V probably benign Het
8030423J24Rik T A 13: 70,883,958 C50S unknown Het
Adam29 T G 8: 55,871,550 H623P probably benign Het
Adamts5 A G 16: 85,899,315 V318A probably damaging Het
Ano3 T C 2: 110,783,713 D215G possibly damaging Het
Ap3b2 A G 7: 81,463,782 I893T unknown Het
Apob G A 12: 8,008,801 A2428T probably benign Het
Armc3 T C 2: 19,296,863 V660A probably benign Het
Atf7 G T 15: 102,563,334 T42K probably damaging Het
Atg9a A T 1: 75,187,722 I160N probably damaging Het
Atp2b1 T C 10: 98,996,924 V429A possibly damaging Het
Bpifb3 A C 2: 153,922,689 H167P probably benign Het
Cacna1f G T X: 7,621,087 E921D probably damaging Het
Ccdc57 T A 11: 120,878,887 L713F probably damaging Het
Chd1l C T 3: 97,587,210 E385K possibly damaging Het
Csmd1 C T 8: 15,917,306 V3186I probably benign Het
Dclre1c T A 2: 3,447,148 D349E probably benign Het
Dlg1 C T 16: 31,842,802 T657M possibly damaging Het
Dync2h1 T C 9: 7,148,688 I919V probably benign Het
Eml5 A G 12: 98,792,514 probably null Het
Epas1 C A 17: 86,818,432 S286* probably null Het
Fat1 G A 8: 45,026,058 V2714I possibly damaging Het
Fuca2 T C 10: 13,514,801 M447T probably benign Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,667,016 probably null Het
Gm11110 A C 17: 57,103,427 C24G probably null Het
Gm6176 T A 7: 22,051,168 I113F probably benign Het
Gmcl1 G T 6: 86,721,426 A163E probably damaging Het
Gpat2 G T 2: 127,433,857 L518F probably damaging Het
Gpr137b T C 13: 13,359,406 Y355C probably damaging Het
Hgsnat C T 8: 25,968,412 V195I probably benign Het
Hivep3 T A 4: 120,098,386 S1300T probably damaging Het
Hs3st2 A T 7: 121,393,139 H137L probably damaging Het
Iffo1 T C 6: 125,145,818 S188P possibly damaging Het
Itih1 T C 14: 30,932,268 D684G probably damaging Het
Lrba C A 3: 86,327,705 N852K probably damaging Het
Lrriq4 T C 3: 30,655,781 S425P possibly damaging Het
Mdn1 T A 4: 32,674,003 S562T possibly damaging Het
Mex3a T C 3: 88,536,757 V380A probably benign Het
Mgat4d A T 8: 83,368,147 N271I probably damaging Het
Mmp24 T A 2: 155,807,425 V254E possibly damaging Het
Muc16 T A 9: 18,592,629 R6455S possibly damaging Het
Npffr1 T A 10: 61,623,349 V127E probably damaging Het
Obox5 T A 7: 15,758,616 N165K probably damaging Het
Olfr1513 G A 14: 52,349,887 T53M possibly damaging Het
Otulin A C 15: 27,606,295 V344G probably damaging Het
Pappa A G 4: 65,261,992 D1030G probably damaging Het
Pdzd2 G A 15: 12,373,506 S2181L probably benign Het
Ppp2r3c C A 12: 55,297,849 M111I probably benign Het
Prss37 T C 6: 40,517,813 T13A probably benign Het
Sfi1 TCGC TC 11: 3,146,254 probably null Het
Sgo2b T A 8: 63,943,104 K39N probably damaging Het
Sike1 T C 3: 103,001,807 *208Q probably null Het
Spire1 A G 18: 67,519,321 S229P probably damaging Het
Tmem132b A G 5: 125,622,793 I132V probably benign Het
Umodl1 T C 17: 30,971,818 V213A probably damaging Het
Washc1 C G 17: 66,116,038 Q116E probably benign Het
Wdr34 C A 2: 30,031,847 A501S possibly damaging Het
Zfp9 G A 6: 118,464,600 P367L probably damaging Het
Other mutations in Zfp553
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01501:Zfp553 APN 7 127236215 missense probably damaging 1.00
IGL01528: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 splice site 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
R7922:Zfp553 UTSW 7 127236596 missense probably damaging 0.99
R8103:Zfp553 UTSW 7 127236764 missense probably benign
R8199:Zfp553 UTSW 7 127236296 missense probably damaging 1.00
R8390:Zfp553 UTSW 7 127236304 missense probably damaging 1.00
Z1088:Zfp553 UTSW 7 127235498 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTGCCCGAGTCAAACACC -3'
(R):5'- GCGCCTAACCAAGACAGTTTC -3'

Sequencing Primer
(F):5'- GGCCCCATAATCCACCTGG -3'
(R):5'- CAAGACAGTTTCCTGAGCATG -3'
Posted On2020-06-30