Incidental Mutation 'R8390:Zfp553'
ID 647329
Institutional Source Beutler Lab
Gene Symbol Zfp553
Ensembl Gene ENSMUSG00000045598
Gene Name zinc finger protein 553
Synonyms 2600009K23Rik, C330013F15Rik, ENSMUSG00000054461
MMRRC Submission 067755-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8390 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 126832233-126837351 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126835476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 344 (T344A)
Ref Sequence ENSEMBL: ENSMUSP00000060967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056232] [ENSMUST00000106312] [ENSMUST00000133913]
AlphaFold Q3US17
Predicted Effect probably damaging
Transcript: ENSMUST00000056232
AA Change: T344A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000060967
Gene: ENSMUSG00000045598
AA Change: T344A

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: T344A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101919
Gene: ENSMUSG00000045598
AA Change: T344A

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700069L16Rik A T 5: 113,830,841 (GRCm39) F50I unknown Het
Abca9 A T 11: 110,036,456 (GRCm39) M551K probably benign Het
Adgrl3 T C 5: 81,914,057 (GRCm39) S1145P probably damaging Het
Brix1 C T 15: 10,485,954 (GRCm39) R9H probably benign Het
C1d T C 11: 17,213,993 (GRCm39) V83A probably damaging Het
Ciz1 G T 2: 32,257,335 (GRCm39) V127L probably benign Het
Csnk1g3 A T 18: 54,081,150 (GRCm39) T374S probably benign Het
Elavl1 T A 8: 4,339,623 (GRCm39) K320* probably null Het
Foxn3 T A 12: 99,355,000 (GRCm39) M55L probably benign Het
Gm14399 A T 2: 174,972,605 (GRCm39) Y383* probably null Het
H2-M10.5 T A 17: 37,085,487 (GRCm39) H215Q probably benign Het
Hsd17b13 C A 5: 104,120,512 (GRCm39) C80F probably damaging Het
Ifi206 G T 1: 173,308,511 (GRCm39) T495N Het
Ifi207 GTT GT 1: 173,557,016 (GRCm39) probably null Het
Ipo13 A T 4: 117,769,534 (GRCm39) I86N probably damaging Het
Iqcf3 T G 9: 106,438,175 (GRCm39) E16A unknown Het
Kcnh5 T A 12: 75,134,532 (GRCm39) D339V probably damaging Het
Lmbr1 C T 5: 29,440,040 (GRCm39) M441I probably benign Het
Me3 G T 7: 89,498,803 (GRCm39) G461V probably damaging Het
Mepce A G 5: 137,783,441 (GRCm39) L295P possibly damaging Het
Mtpap T A 18: 4,396,141 (GRCm39) Y478N probably damaging Het
Myl12a T C 17: 71,303,231 (GRCm39) M74V probably benign Het
Neil3 A T 8: 54,062,559 (GRCm39) M99K probably damaging Het
Nlrp3 A G 11: 59,442,616 (GRCm39) T723A possibly damaging Het
Obscn A T 11: 58,892,870 (GRCm39) I6792N probably benign Het
Or13a19 G T 7: 139,903,027 (GRCm39) W138C possibly damaging Het
Or2d2 A G 7: 106,728,522 (GRCm39) L26P probably benign Het
Or5al7 A G 2: 85,993,266 (GRCm39) V9A possibly damaging Het
Or8b49 T A 9: 38,505,887 (GRCm39) Y123* probably null Het
Or8h10 G A 2: 86,808,501 (GRCm39) T213I probably benign Het
Peg10 T TCCC 6: 4,756,451 (GRCm39) probably benign Het
Pitx2 C A 3: 129,012,507 (GRCm39) N312K probably damaging Het
Pot1b C A 17: 55,999,739 (GRCm39) V229L probably benign Het
Psmd1 A G 1: 86,006,329 (GRCm39) I232V possibly damaging Het
Rif1 A G 2: 52,000,935 (GRCm39) E1463G probably damaging Het
Scn5a T A 9: 119,368,604 (GRCm39) Y307F possibly damaging Het
Shprh G A 10: 11,063,727 (GRCm39) E1267K possibly damaging Het
Smtnl1 A T 2: 84,645,694 (GRCm39) Y392* probably null Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Sspo G A 6: 48,444,896 (GRCm39) G2268R probably benign Het
Tex47 G A 5: 7,355,301 (GRCm39) E161K probably benign Het
Timd6 G T 11: 46,468,082 (GRCm39) R52L probably damaging Het
Tmem236 T C 2: 14,224,168 (GRCm39) L319P probably damaging Het
Tnk1 T C 11: 69,742,695 (GRCm39) T606A possibly damaging Het
Tnrc6a A G 7: 122,761,794 (GRCm39) T81A probably damaging Het
Trav6d-4 A T 14: 52,991,092 (GRCm39) T46S probably benign Het
Wdr19 T A 5: 65,381,210 (GRCm39) Y411* probably null Het
Zfp62 G A 11: 49,106,019 (GRCm39) G37S probably benign Het
Other mutations in Zfp553
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01501:Zfp553 APN 7 126,835,387 (GRCm39) missense probably damaging 1.00
IGL01528:Zfp553 APN 7 126,835,387 (GRCm39) missense probably damaging 1.00
IGL03228:Zfp553 APN 7 126,835,249 (GRCm39) missense probably damaging 1.00
R1051:Zfp553 UTSW 7 126,835,977 (GRCm39) nonsense probably null
R1859:Zfp553 UTSW 7 126,834,517 (GRCm39) missense probably benign 0.04
R1899:Zfp553 UTSW 7 126,834,826 (GRCm39) missense possibly damaging 0.66
R4997:Zfp553 UTSW 7 126,834,683 (GRCm39) missense probably benign 0.15
R5090:Zfp553 UTSW 7 126,834,659 (GRCm39) missense probably damaging 0.98
R5282:Zfp553 UTSW 7 126,836,013 (GRCm39) missense probably benign 0.12
R5468:Zfp553 UTSW 7 126,836,202 (GRCm39) missense probably benign
R5576:Zfp553 UTSW 7 126,835,875 (GRCm39) missense possibly damaging 0.80
R6334:Zfp553 UTSW 7 126,836,064 (GRCm39) splice site probably null
R6828:Zfp553 UTSW 7 126,835,447 (GRCm39) missense probably damaging 1.00
R6974:Zfp553 UTSW 7 126,835,825 (GRCm39) missense probably damaging 1.00
R7149:Zfp553 UTSW 7 126,835,605 (GRCm39) missense possibly damaging 0.94
R7615:Zfp553 UTSW 7 126,835,188 (GRCm39) missense probably damaging 1.00
R7922:Zfp553 UTSW 7 126,835,768 (GRCm39) missense probably damaging 0.99
R8103:Zfp553 UTSW 7 126,835,936 (GRCm39) missense probably benign
R8111:Zfp553 UTSW 7 126,836,093 (GRCm39) nonsense probably null
R8199:Zfp553 UTSW 7 126,835,468 (GRCm39) missense probably damaging 1.00
Z1088:Zfp553 UTSW 7 126,834,670 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCTGGTGAAACATCTGCG -3'
(R):5'- ACACTTGTGGGGCTTGTCAC -3'

Sequencing Primer
(F):5'- CTGGTGAAACATCTGCGGGTAC -3'
(R):5'- TCTGGTTCCAAGCCAGGTAG -3'
Posted On 2020-09-02