Incidental Mutation 'R4777:Zfp451'
ID 367979
Institutional Source Beutler Lab
Gene Symbol Zfp451
Ensembl Gene ENSMUSG00000042197
Gene Name zinc finger protein 451
Synonyms 4930515K21Rik, Kiaa0576-hp, 4933435G09Rik
MMRRC Submission 041992-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4777 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 33800626-33853676 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33821186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 222 (V222D)
Ref Sequence ENSEMBL: ENSMUSP00000019861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019861] [ENSMUST00000115167] [ENSMUST00000139143] [ENSMUST00000151055] [ENSMUST00000194656]
AlphaFold Q8C0P7
Predicted Effect possibly damaging
Transcript: ENSMUST00000019861
AA Change: V222D

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000019861
Gene: ENSMUSG00000042197
AA Change: V222D

DomainStartEndE-ValueType
coiled coil region 81 109 N/A INTRINSIC
ZnF_C2H2 169 195 1.63e1 SMART
ZnF_C2H2 212 232 1.18e2 SMART
ZnF_C2H2 253 277 1.73e0 SMART
ZnF_C2H2 315 335 2.03e2 SMART
ZnF_C2H2 362 385 3.75e1 SMART
ZnF_C2H2 494 517 2.91e-2 SMART
ZnF_C2H2 527 550 5.4e1 SMART
low complexity region 558 577 N/A INTRINSIC
ZnF_C2H2 604 629 1.55e1 SMART
ZnF_C2H2 634 657 2.29e0 SMART
ZnF_C2H2 665 687 1.64e-1 SMART
ZnF_C2H2 751 774 6.75e0 SMART
ZnF_C2H2 787 810 4.94e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115167
SMART Domains Protein: ENSMUSP00000110821
Gene: ENSMUSG00000042197

DomainStartEndE-ValueType
coiled coil region 81 109 N/A INTRINSIC
ZnF_C2H2 169 195 1.63e1 SMART
ZnF_C2H2 212 232 1.18e2 SMART
ZnF_C2H2 253 277 1.73e0 SMART
ZnF_C2H2 315 335 2.03e2 SMART
ZnF_C2H2 362 385 3.75e1 SMART
ZnF_C2H2 494 517 2.91e-2 SMART
ZnF_C2H2 527 550 5.4e1 SMART
low complexity region 558 577 N/A INTRINSIC
ZnF_C2H2 604 629 1.55e1 SMART
ZnF_C2H2 634 657 2.29e0 SMART
ZnF_C2H2 665 687 1.64e-1 SMART
ZnF_C2H2 751 774 6.75e0 SMART
ZnF_C2H2 787 810 4.94e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130376
SMART Domains Protein: ENSMUSP00000118047
Gene: ENSMUSG00000042197

DomainStartEndE-ValueType
ZnF_C2H2 30 56 1.63e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139143
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140163
Predicted Effect probably benign
Transcript: ENSMUST00000151055
Predicted Effect probably benign
Transcript: ENSMUST00000194656
AA Change: V180D

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000141813
Gene: ENSMUSG00000042197
AA Change: V180D

DomainStartEndE-ValueType
ZnF_C2H2 127 153 6.9e-2 SMART
ZnF_C2H2 170 190 5e-1 SMART
ZnF_C2H2 211 235 7.2e-3 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A C 3: 137,771,503 (GRCm39) S231R probably benign Het
5730455P16Rik A T 11: 80,265,041 (GRCm39) I137N probably damaging Het
Abhd10 G A 16: 45,557,279 (GRCm39) Q176* probably null Het
Acer3 T C 7: 97,910,804 (GRCm39) Y86C probably damaging Het
Ankrd36 T C 11: 5,557,120 (GRCm39) V356A probably benign Het
Atp1a1 A G 3: 101,502,312 (GRCm39) probably null Het
Bmp8b G A 4: 123,015,793 (GRCm39) R260Q possibly damaging Het
C2cd3 T A 7: 100,065,539 (GRCm39) V775D possibly damaging Het
Cacna1b T A 2: 24,622,337 (GRCm39) I216F probably damaging Het
Capn5 T A 7: 97,780,925 (GRCm39) N284I probably damaging Het
Cbr1 C A 16: 93,406,942 (GRCm39) D219E probably benign Het
Cdca2 C T 14: 67,950,589 (GRCm39) R114Q probably damaging Het
Cdh20 G A 1: 109,922,055 (GRCm39) W49* probably null Het
Cep152 C T 2: 125,406,015 (GRCm39) V1506I probably benign Het
Cfap97 C T 8: 46,648,334 (GRCm39) Q537* probably null Het
Cpsf2 T A 12: 101,963,091 (GRCm39) V385E probably damaging Het
Dse A G 10: 34,029,584 (GRCm39) V502A possibly damaging Het
Fam171a1 T A 2: 3,224,550 (GRCm39) F300L probably benign Het
Fnip1 T G 11: 54,391,382 (GRCm39) N438K probably damaging Het
Fstl5 C T 3: 76,500,807 (GRCm39) T412M probably damaging Het
Gm11938 T A 11: 99,494,059 (GRCm39) Q12L unknown Het
Hcls1 G T 16: 36,775,678 (GRCm39) A171S probably damaging Het
Hcn1 ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC 13: 118,112,269 (GRCm39) probably benign Het
Hydin G T 8: 111,137,096 (GRCm39) C633F probably damaging Het
Ica1 A T 6: 8,644,145 (GRCm39) D381E probably benign Het
Ift74 A G 4: 94,541,234 (GRCm39) K220E probably benign Het
Igfn1 A T 1: 135,882,600 (GRCm39) D2748E probably benign Het
Il16 A C 7: 83,300,104 (GRCm39) D396E probably benign Het
Impdh1 G T 6: 29,205,201 (GRCm39) A200E possibly damaging Het
Itga4 C T 2: 79,144,054 (GRCm39) T647I possibly damaging Het
Jpt1 A T 11: 115,391,497 (GRCm39) M104K probably benign Het
Krt73 C A 15: 101,702,436 (GRCm39) A476S probably benign Het
Lama3 T C 18: 12,546,828 (GRCm39) Y363H probably damaging Het
Lgr4 C T 2: 109,827,027 (GRCm39) P177L probably damaging Het
Lrp2 T C 2: 69,312,608 (GRCm39) D2560G probably damaging Het
Ly6m T C 15: 74,752,532 (GRCm39) N48S probably benign Het
Macf1 A T 4: 123,270,295 (GRCm39) F6617I probably damaging Het
Mcf2l T A 8: 13,068,051 (GRCm39) probably null Het
Mcub T A 3: 129,763,600 (GRCm39) Q42L probably damaging Het
Mfsd9 C T 1: 40,820,700 (GRCm39) V150I possibly damaging Het
Myo15b T C 11: 115,770,478 (GRCm39) V96A probably damaging Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or10aa3 T G 1: 173,878,244 (GRCm39) Y102D probably damaging Het
Or10g6 T C 9: 39,933,994 (GRCm39) F102L possibly damaging Het
Or1r1 A G 11: 73,875,221 (GRCm39) V71A probably benign Het
Pgap6 T C 17: 26,340,515 (GRCm39) V633A probably damaging Het
Pinlyp T A 7: 24,241,568 (GRCm39) I153F possibly damaging Het
Plk2 A C 13: 110,534,307 (GRCm39) M296L probably benign Het
Plvap T C 8: 71,960,630 (GRCm39) Y262C probably benign Het
Ppfia3 C A 7: 44,990,581 (GRCm39) G1066V probably damaging Het
Prokr1 A G 6: 87,565,842 (GRCm39) M1T probably null Het
Ptgs2 G T 1: 149,981,138 (GRCm39) A474S probably benign Het
Pth2r A G 1: 65,427,676 (GRCm39) T450A possibly damaging Het
Ranbp6 A T 19: 29,789,037 (GRCm39) F438L probably damaging Het
Ripor1 A T 8: 106,341,622 (GRCm39) Q102L probably damaging Het
Rprd2 C T 3: 95,694,686 (GRCm39) V116I probably benign Het
Sacs T C 14: 61,449,258 (GRCm39) V3768A probably damaging Het
Scn8a T C 15: 100,913,832 (GRCm39) Y1075H probably damaging Het
Senp3 C T 11: 69,569,063 (GRCm39) G366D probably damaging Het
Smim1 T C 4: 154,108,107 (GRCm39) probably benign Het
Sptan1 A G 2: 29,886,447 (GRCm39) I817V probably damaging Het
Stag3 A T 5: 138,307,461 (GRCm39) probably benign Het
Stk17b A T 1: 53,810,867 (GRCm39) H79Q probably damaging Het
Svil A G 18: 5,088,813 (GRCm39) K1296E probably damaging Het
Tmem117 T A 15: 94,992,331 (GRCm39) Y330* probably null Het
Tnxb G T 17: 34,890,917 (GRCm39) R420L probably damaging Het
Trim9 C A 12: 70,393,845 (GRCm39) C33F probably damaging Het
Usp29 A C 7: 6,965,747 (GRCm39) Y530S probably benign Het
Vps26b T C 9: 26,921,752 (GRCm39) T258A possibly damaging Het
Vrtn C A 12: 84,695,600 (GRCm39) H117N probably damaging Het
Wdr33 C T 18: 32,014,301 (GRCm39) H388Y probably damaging Het
Zfp953 A G 13: 67,491,193 (GRCm39) I253T probably benign Het
Zfy2 A G Y: 2,116,194 (GRCm39) V282A probably benign Het
Zscan29 A T 2: 120,999,805 (GRCm39) V132D probably damaging Het
Zswim4 G T 8: 84,963,586 (GRCm39) D16E probably benign Het
Other mutations in Zfp451
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00225:Zfp451 APN 1 33,825,621 (GRCm39) intron probably benign
IGL00423:Zfp451 APN 1 33,816,660 (GRCm39) missense probably benign 0.44
IGL00925:Zfp451 APN 1 33,815,342 (GRCm39) unclassified probably benign
IGL00971:Zfp451 APN 1 33,822,234 (GRCm39) missense probably benign 0.01
IGL01521:Zfp451 APN 1 33,816,412 (GRCm39) splice site probably null
IGL01672:Zfp451 APN 1 33,801,247 (GRCm39) missense probably benign 0.33
IGL01826:Zfp451 APN 1 33,821,243 (GRCm39) missense probably damaging 1.00
IGL02298:Zfp451 APN 1 33,812,002 (GRCm39) missense probably damaging 0.98
IGL02343:Zfp451 APN 1 33,815,574 (GRCm39) missense probably damaging 1.00
IGL03150:Zfp451 APN 1 33,816,535 (GRCm39) missense probably damaging 1.00
IGL03257:Zfp451 APN 1 33,816,129 (GRCm39) missense possibly damaging 0.90
R0006:Zfp451 UTSW 1 33,841,861 (GRCm39) intron probably benign
R0068:Zfp451 UTSW 1 33,816,706 (GRCm39) missense probably damaging 1.00
R0068:Zfp451 UTSW 1 33,816,706 (GRCm39) missense probably damaging 1.00
R0358:Zfp451 UTSW 1 33,816,810 (GRCm39) missense probably damaging 1.00
R0441:Zfp451 UTSW 1 33,816,126 (GRCm39) missense probably damaging 0.96
R0483:Zfp451 UTSW 1 33,809,991 (GRCm39) splice site probably benign
R0745:Zfp451 UTSW 1 33,809,929 (GRCm39) nonsense probably null
R1469:Zfp451 UTSW 1 33,808,894 (GRCm39) missense possibly damaging 0.93
R1469:Zfp451 UTSW 1 33,808,894 (GRCm39) missense possibly damaging 0.93
R1486:Zfp451 UTSW 1 33,816,808 (GRCm39) missense probably damaging 0.99
R1774:Zfp451 UTSW 1 33,852,849 (GRCm39) missense probably benign 0.02
R1929:Zfp451 UTSW 1 33,822,937 (GRCm39) missense probably benign 0.12
R1929:Zfp451 UTSW 1 33,821,274 (GRCm39) missense probably damaging 1.00
R1933:Zfp451 UTSW 1 33,816,903 (GRCm39) missense probably damaging 1.00
R2108:Zfp451 UTSW 1 33,818,248 (GRCm39) missense possibly damaging 0.93
R2225:Zfp451 UTSW 1 33,809,988 (GRCm39) splice site probably benign
R2372:Zfp451 UTSW 1 33,819,133 (GRCm39) splice site probably null
R3923:Zfp451 UTSW 1 33,818,126 (GRCm39) missense probably null 1.00
R4295:Zfp451 UTSW 1 33,816,836 (GRCm39) missense probably damaging 0.99
R4409:Zfp451 UTSW 1 33,816,494 (GRCm39) missense probably damaging 1.00
R4617:Zfp451 UTSW 1 33,841,752 (GRCm39) intron probably benign
R4757:Zfp451 UTSW 1 33,804,939 (GRCm39) missense probably damaging 0.98
R4906:Zfp451 UTSW 1 33,844,465 (GRCm39) missense probably damaging 1.00
R4964:Zfp451 UTSW 1 33,816,942 (GRCm39) missense probably damaging 1.00
R5128:Zfp451 UTSW 1 33,842,014 (GRCm39) intron probably benign
R5129:Zfp451 UTSW 1 33,842,014 (GRCm39) intron probably benign
R5383:Zfp451 UTSW 1 33,852,887 (GRCm39) missense probably damaging 1.00
R5446:Zfp451 UTSW 1 33,816,609 (GRCm39) missense probably damaging 1.00
R6154:Zfp451 UTSW 1 33,842,627 (GRCm39) intron probably benign
R6228:Zfp451 UTSW 1 33,842,219 (GRCm39) intron probably benign
R6272:Zfp451 UTSW 1 33,842,325 (GRCm39) intron probably benign
R6296:Zfp451 UTSW 1 33,808,898 (GRCm39) nonsense probably null
R6321:Zfp451 UTSW 1 33,852,816 (GRCm39) missense probably damaging 1.00
R6445:Zfp451 UTSW 1 33,812,092 (GRCm39) missense probably damaging 1.00
R6528:Zfp451 UTSW 1 33,816,862 (GRCm39) missense probably damaging 1.00
R6562:Zfp451 UTSW 1 33,801,260 (GRCm39) missense possibly damaging 0.90
R6739:Zfp451 UTSW 1 33,842,675 (GRCm39) intron probably benign
R6911:Zfp451 UTSW 1 33,842,537 (GRCm39) intron probably benign
R7042:Zfp451 UTSW 1 33,816,474 (GRCm39) missense probably damaging 1.00
R7044:Zfp451 UTSW 1 33,841,248 (GRCm39) intron probably benign
R7071:Zfp451 UTSW 1 33,815,825 (GRCm39) missense possibly damaging 0.96
R7082:Zfp451 UTSW 1 33,811,972 (GRCm39) critical splice donor site probably null
R7123:Zfp451 UTSW 1 33,815,950 (GRCm39) missense probably damaging 1.00
R7149:Zfp451 UTSW 1 33,816,405 (GRCm39) missense probably damaging 1.00
R7179:Zfp451 UTSW 1 33,841,651 (GRCm39) missense unknown
R7185:Zfp451 UTSW 1 33,808,974 (GRCm39) missense probably damaging 1.00
R7228:Zfp451 UTSW 1 33,842,475 (GRCm39) missense unknown
R7402:Zfp451 UTSW 1 33,852,843 (GRCm39) missense probably benign
R7462:Zfp451 UTSW 1 33,816,094 (GRCm39) missense probably damaging 1.00
R7488:Zfp451 UTSW 1 33,818,221 (GRCm39) missense probably benign 0.22
R7507:Zfp451 UTSW 1 33,808,840 (GRCm39) missense probably damaging 1.00
R7774:Zfp451 UTSW 1 33,844,474 (GRCm39) missense probably benign 0.20
R7835:Zfp451 UTSW 1 33,812,060 (GRCm39) missense probably damaging 1.00
R7979:Zfp451 UTSW 1 33,821,219 (GRCm39) missense probably benign 0.01
R8123:Zfp451 UTSW 1 33,801,248 (GRCm39) missense possibly damaging 0.92
R8137:Zfp451 UTSW 1 33,821,156 (GRCm39) missense possibly damaging 0.57
R8938:Zfp451 UTSW 1 33,842,063 (GRCm39) intron probably benign
R8974:Zfp451 UTSW 1 33,816,535 (GRCm39) missense probably damaging 1.00
R9036:Zfp451 UTSW 1 33,815,562 (GRCm39) missense probably damaging 1.00
RF005:Zfp451 UTSW 1 33,815,873 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TAGGACTGCTGGAGTTGAGC -3'
(R):5'- TGTGTTCAGATGCATCAGCTTC -3'

Sequencing Primer
(F):5'- GCTTAAGTGTCCAAAGTAACACAG -3'
(R):5'- GTTCAGATGCATCAGCTTCACAAG -3'
Posted On 2015-12-29