Incidental Mutation 'R0743:Zfp454'
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ID70793
Institutional Source Beutler Lab
Gene Symbol Zfp454
Ensembl Gene ENSMUSG00000048728
Gene Namezinc finger protein 454
Synonyms
MMRRC Submission 038924-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #R0743 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location50872720-50887651 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 50873937 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 223 (S223P)
Ref Sequence ENSEMBL: ENSMUSP00000129125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050595] [ENSMUST00000109131] [ENSMUST00000125749] [ENSMUST00000163301]
Predicted Effect probably benign
Transcript: ENSMUST00000050595
AA Change: S223P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000061824
Gene: ENSMUSG00000048728
AA Change: S223P

DomainStartEndE-ValueType
KRAB 14 75 1.35e-29 SMART
ZnF_C2H2 191 213 9.73e-4 SMART
ZnF_C2H2 230 252 6.32e-3 SMART
ZnF_C2H2 258 280 2.4e-3 SMART
ZnF_C2H2 286 308 8.22e-2 SMART
ZnF_C2H2 314 336 1.33e-1 SMART
ZnF_C2H2 342 364 1.84e-4 SMART
ZnF_C2H2 370 392 9.73e-4 SMART
ZnF_C2H2 398 420 5.21e-4 SMART
ZnF_C2H2 426 448 4.87e-4 SMART
ZnF_C2H2 454 476 2.12e-4 SMART
ZnF_C2H2 482 504 1.04e-3 SMART
ZnF_C2H2 510 532 2.95e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109131
AA Change: S112P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000104759
Gene: ENSMUSG00000048728
AA Change: S112P

DomainStartEndE-ValueType
ZnF_C2H2 80 102 9.73e-4 SMART
ZnF_C2H2 119 141 6.32e-3 SMART
ZnF_C2H2 147 169 2.4e-3 SMART
ZnF_C2H2 175 197 8.22e-2 SMART
ZnF_C2H2 203 225 1.33e-1 SMART
ZnF_C2H2 231 253 1.84e-4 SMART
ZnF_C2H2 259 281 9.73e-4 SMART
ZnF_C2H2 287 309 5.21e-4 SMART
ZnF_C2H2 315 337 4.87e-4 SMART
ZnF_C2H2 343 365 2.12e-4 SMART
ZnF_C2H2 371 393 1.04e-3 SMART
ZnF_C2H2 399 421 2.95e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125749
SMART Domains Protein: ENSMUSP00000122658
Gene: ENSMUSG00000048728

DomainStartEndE-ValueType
KRAB 14 75 1.35e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136599
Predicted Effect probably benign
Transcript: ENSMUST00000163301
AA Change: S223P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000129125
Gene: ENSMUSG00000048728
AA Change: S223P

DomainStartEndE-ValueType
KRAB 14 75 1.35e-29 SMART
ZnF_C2H2 191 213 9.73e-4 SMART
ZnF_C2H2 230 252 6.32e-3 SMART
ZnF_C2H2 258 280 2.4e-3 SMART
ZnF_C2H2 286 308 8.22e-2 SMART
ZnF_C2H2 314 336 1.33e-1 SMART
ZnF_C2H2 342 364 1.84e-4 SMART
ZnF_C2H2 370 392 9.73e-4 SMART
ZnF_C2H2 398 420 5.21e-4 SMART
ZnF_C2H2 426 448 4.87e-4 SMART
ZnF_C2H2 454 476 2.12e-4 SMART
ZnF_C2H2 482 504 1.04e-3 SMART
ZnF_C2H2 510 532 2.95e-3 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.7%
  • 20x: 92.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,553,288 I844N possibly damaging Het
Bend7 A T 2: 4,744,244 K57N probably damaging Het
Cacna2d4 C T 6: 119,307,286 R745W probably damaging Het
Csmd2 A T 4: 128,113,676 T149S probably benign Het
Cyp2a12 T C 7: 27,032,542 I236T probably benign Het
Dnase1l2 A G 17: 24,441,880 V170A possibly damaging Het
Dnm2 T A 9: 21,500,265 Y597N probably damaging Het
Epsti1 A T 14: 77,931,275 R117S probably damaging Het
Gabarapl2 A T 8: 111,942,505 I32F probably damaging Het
Glrb T A 3: 80,879,680 I59F probably damaging Het
Gm13089 A T 4: 143,698,564 I103N probably damaging Het
Gm17689 T C 9: 36,581,301 S103G probably benign Het
Gosr1 A G 11: 76,730,146 I239T probably benign Het
Kif5b G T 18: 6,209,192 R857S probably damaging Het
Kmt5a C A 5: 124,447,219 N44K probably damaging Het
Ksr1 A T 11: 79,021,503 H675Q possibly damaging Het
Maats1 A G 16: 38,335,634 F76L possibly damaging Het
Mep1b A G 18: 21,080,458 D68G possibly damaging Het
Nebl A C 2: 17,411,118 S327A probably benign Het
Nfat5 G A 8: 107,368,066 E962K probably damaging Het
Nfatc4 A C 14: 55,826,644 D126A probably damaging Het
Nmt2 A T 2: 3,314,785 R271* probably null Het
Nol7 G A 13: 43,400,615 V133I probably benign Het
Npepps A G 11: 97,206,058 probably benign Het
Nphp3 GCATCATCATCATCATC GCATCATCATCATC 9: 104,022,768 probably benign Het
Olfr1100 G A 2: 86,978,499 T99I probably benign Het
Olfr376 A T 11: 73,374,889 I47F probably benign Het
Olfr610 C T 7: 103,506,862 W28* probably null Het
Olfr798 T A 10: 129,625,843 T73S probably benign Het
Ovgp1 T A 3: 105,974,932 L37H probably damaging Het
Padi3 G T 4: 140,786,429 A646D probably benign Het
Pamr1 A G 2: 102,609,907 E142G probably damaging Het
Papolg A T 11: 23,870,818 probably null Het
Pfkl C T 10: 77,995,243 probably null Het
Plrg1 T C 3: 83,059,917 S132P probably benign Het
Prr14l C A 5: 32,831,194 C319F possibly damaging Het
Prtn3 T A 10: 79,879,677 M1K probably null Het
Ptpn22 T C 3: 103,902,171 F700S probably damaging Het
Ptprz1 C T 6: 23,044,367 Q1273* probably null Het
Rif1 GCCACCA GCCA 2: 52,110,324 probably benign Het
Ryr2 T C 13: 11,554,529 D4963G probably damaging Het
Sec16a G A 2: 26,419,722 L2091F possibly damaging Het
Senp6 C T 9: 80,093,589 R27C probably damaging Het
Shcbp1 T A 8: 4,764,906 M191L probably benign Het
Sirt4 T C 5: 115,482,955 K53E probably benign Het
Slc10a2 A G 8: 5,089,132 S271P probably damaging Het
Slc35b2 T A 17: 45,566,825 F293I probably damaging Het
Slc38a10 C T 11: 120,140,643 V103M probably damaging Het
St5 A G 7: 109,557,345 L66P probably damaging Het
Stab2 T A 10: 86,887,895 I1479F probably damaging Het
Synpo2 A G 3: 123,112,706 V987A probably benign Het
Syt9 A G 7: 107,436,561 I262V probably damaging Het
Taf2 GCTTCTTCTTCTTCTTCTT GCTTCTTCTTCTTCTT 15: 55,016,461 probably benign Het
Tmem39a A T 16: 38,585,402 I200F probably damaging Het
Ttn G A 2: 76,749,269 T23760M probably damaging Het
Uqcrc1 C T 9: 108,944,705 Q22* probably null Het
Wdtc1 A G 4: 133,300,661 W377R probably damaging Het
Other mutations in Zfp454
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Zfp454 APN 11 50874206 missense probably benign 0.22
IGL01631:Zfp454 APN 11 50883735 missense probably benign
R0109:Zfp454 UTSW 11 50883775 missense possibly damaging 0.71
R0606:Zfp454 UTSW 11 50874185 missense probably benign 0.00
R0884:Zfp454 UTSW 11 50873937 missense probably benign 0.01
R1181:Zfp454 UTSW 11 50873586 missense probably damaging 1.00
R1377:Zfp454 UTSW 11 50873780 missense probably damaging 1.00
R2126:Zfp454 UTSW 11 50873995 missense probably benign 0.44
R4869:Zfp454 UTSW 11 50873153 missense probably damaging 1.00
R4973:Zfp454 UTSW 11 50874123 missense probably benign
R5379:Zfp454 UTSW 11 50883802 missense probably damaging 0.99
R5997:Zfp454 UTSW 11 50873622 missense probably damaging 1.00
R6321:Zfp454 UTSW 11 50873049 missense probably damaging 0.98
R6490:Zfp454 UTSW 11 50874123 missense probably benign
R6892:Zfp454 UTSW 11 50873198 missense probably damaging 1.00
R7362:Zfp454 UTSW 11 50886367 critical splice donor site probably null
R7650:Zfp454 UTSW 11 50883753 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- tctggtgGTAGGAAAGGGAAGAGC -3'
(R):5'- AATTGGCAGTGCCAGGAAGGTC -3'

Sequencing Primer
(F):5'- TGTACTCTGGTGGAAGGCTT -3'
(R):5'- TTGCAGCAAGTGGTCCTC -3'
Posted On2013-09-30