Incidental Mutation 'R8137:Zfp451'
ID 632278
Institutional Source Beutler Lab
Gene Symbol Zfp451
Ensembl Gene ENSMUSG00000042197
Gene Name zinc finger protein 451
Synonyms 4930515K21Rik, Kiaa0576-hp, 4933435G09Rik
MMRRC Submission 067565-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8137 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 33800626-33853676 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33821156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 232 (L232H)
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: L232H

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000019861
Gene: ENSMUSG00000042197
AA Change: L232H

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 probably benign
Transcript: ENSMUST00000139143
Predicted Effect probably benign
Transcript: ENSMUST00000151055
Predicted Effect possibly damaging
Transcript: ENSMUST00000194656
AA Change: L190H

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141813
Gene: ENSMUSG00000042197
AA Change: L190H

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: 99.8%
  • 3x: 99.6%
  • 10x: 98.8%
  • 20x: 96.4%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankfn1 T G 11: 89,344,003 (GRCm39) Q326H probably benign Het
Carf G A 1: 60,187,124 (GRCm39) V576I probably benign Het
Ccnl1 C T 3: 65,865,291 (GRCm39) D87N possibly damaging Het
Cgref1 T A 5: 31,091,749 (GRCm39) D111V possibly damaging Het
Cnot4 G A 6: 35,023,222 (GRCm39) P567S unknown Het
Cyp7b1 A T 3: 18,151,765 (GRCm39) D149E probably benign Het
Dcc A T 18: 71,511,783 (GRCm39) D877E probably benign Het
Dhx8 T A 11: 101,654,808 (GRCm39) I1032N probably damaging Het
Dnah7b A G 1: 46,272,913 (GRCm39) Y2347C probably damaging Het
Dtx3 A G 10: 127,029,041 (GRCm39) S63P possibly damaging Het
Dyrk2 C T 10: 118,695,789 (GRCm39) E490K probably benign Het
Fcgbp A C 7: 27,804,496 (GRCm39) Y1868S probably damaging Het
Foxa2 T C 2: 147,885,768 (GRCm39) H355R probably benign Het
Fpr-rs7 A G 17: 20,334,055 (GRCm39) V145A possibly damaging Het
Gm14137 A T 2: 119,005,837 (GRCm39) E132V probably benign Het
Gpn2 T C 4: 133,315,873 (GRCm39) S211P possibly damaging Het
Greb1l A T 18: 10,474,357 (GRCm39) Q224L possibly damaging Het
Gspt1 A G 16: 11,058,532 (GRCm39) V144A probably benign Het
Ifi204 A G 1: 173,589,188 (GRCm39) I81T possibly damaging Het
Il27ra T A 8: 84,767,720 (GRCm39) probably null Het
Kif21a T C 15: 90,852,645 (GRCm39) T862A probably benign Het
Klf2 T C 8: 73,074,088 (GRCm39) probably null Het
Kmt2e A G 5: 23,706,952 (GRCm39) Y1505C probably damaging Het
Mcm9 T C 10: 53,499,076 (GRCm39) T216A Het
Muc16 T C 9: 18,556,972 (GRCm39) E3107G unknown Het
Ncor2 C T 5: 125,114,957 (GRCm39) V169I Het
Oas3 T C 5: 120,915,565 (GRCm39) Q42R probably benign Het
Or2l5 A G 16: 19,333,846 (GRCm39) V180A possibly damaging Het
Or4p8 T C 2: 88,727,013 (GRCm39) *309W probably null Het
Pde10a A G 17: 9,193,647 (GRCm39) Y693C possibly damaging Het
Pde11a T C 2: 76,041,383 (GRCm39) E429G possibly damaging Het
Pramel23 A G 4: 143,425,835 (GRCm39) F36S probably damaging Het
Pygo1 A G 9: 72,852,140 (GRCm39) H109R probably damaging Het
Rbsn A T 6: 92,167,003 (GRCm39) V547D probably benign Het
Ros1 A G 10: 52,001,933 (GRCm39) I1084T possibly damaging Het
Sis T C 3: 72,796,378 (GRCm39) D1801G probably benign Het
Slco4c1 C T 1: 96,748,970 (GRCm39) G649E probably damaging Het
Spmip10 A G 18: 56,727,653 (GRCm39) D117G probably damaging Het
Sptbn2 A T 19: 4,787,431 (GRCm39) I914F possibly damaging Het
Srebf2 C T 15: 82,062,966 (GRCm39) R468C probably damaging Het
Strc C T 2: 121,197,219 (GRCm39) G1503R probably damaging Het
Sv2c T A 13: 96,225,171 (GRCm39) Y46F probably damaging Het
Tctn3 A T 19: 40,593,785 (GRCm39) W462R probably damaging Het
Tjp3 T C 10: 81,109,525 (GRCm39) D857G probably benign Het
Tor1aip2 C T 1: 155,939,414 (GRCm39) T242I possibly damaging Het
Ttn T A 2: 76,800,273 (GRCm39) I312F unknown Het
Vezt T C 10: 93,775,154 (GRCm39) N94D Het
Vmn2r105 T C 17: 20,454,966 (GRCm39) N57D probably benign Het
Wdr59 T C 8: 112,212,011 (GRCm39) D353G Het
Ykt6 T C 11: 5,909,368 (GRCm39) V59A probably damaging Het
Ypel3 T G 7: 126,377,269 (GRCm39) V54G possibly damaging Het
Zfp386 T A 12: 116,023,268 (GRCm39) C329S possibly damaging Het
Zfp648 A G 1: 154,081,110 (GRCm39) H423R probably damaging Het
Zfp729b T C 13: 67,740,861 (GRCm39) Y468C probably damaging 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
R4777:Zfp451 UTSW 1 33,821,186 (GRCm39) missense possibly damaging 0.80
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
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'- CTCTAGGACTGCTGGAGTTG -3'
(R):5'- AGGCAAACCAGGTCATCTCC -3'

Sequencing Primer
(F):5'- GCTTAAGTGTCCAAAGTAACACAG -3'
(R):5'- AGGTCATCTCCTGGGAAGTAGATCC -3'
Posted On 2020-06-30