Incidental Mutation 'R3923:Zfp451'
ID 307005
Institutional Source Beutler Lab
Gene Symbol Zfp451
Ensembl Gene ENSMUSG00000042197
Gene Name zinc finger protein 451
Synonyms 4930515K21Rik, Kiaa0576-hp, 4933435G09Rik
MMRRC Submission 040820-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3923 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 33800626-33853676 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33818126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 118 (R118G)
Ref Sequence ENSEMBL: ENSMUSP00000110821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019861] [ENSMUST00000019861] [ENSMUST00000115167] [ENSMUST00000115167] [ENSMUST00000139143] [ENSMUST00000151055] [ENSMUST00000194656]
AlphaFold Q8C0P7
Predicted Effect probably null
Transcript: ENSMUST00000019861
AA Change: R335G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019861
Gene: ENSMUSG00000042197
AA Change: R335G

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 null
Transcript: ENSMUST00000019861
AA Change: R335G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019861
Gene: ENSMUSG00000042197
AA Change: R335G

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 null
Transcript: ENSMUST00000115167
AA Change: R118G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110821
Gene: ENSMUSG00000042197
AA Change: R118G

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 null
Transcript: ENSMUST00000115167
AA Change: R118G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110821
Gene: ENSMUSG00000042197
AA Change: R118G

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 probably benign
Transcript: ENSMUST00000151055
Predicted Effect probably benign
Transcript: ENSMUST00000194656
SMART Domains Protein: ENSMUSP00000141813
Gene: ENSMUSG00000042197

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,180,514 (GRCm39) M528V possibly damaging Het
Ano3 T A 2: 110,601,304 (GRCm39) Y318F probably damaging Het
Asic4 T A 1: 75,427,871 (GRCm39) D132E probably damaging Het
Atp2b2 A G 6: 113,774,069 (GRCm39) probably null Het
Cast T C 13: 74,876,532 (GRCm39) E447G probably damaging Het
Ccdc110 T C 8: 46,395,426 (GRCm39) I439T probably damaging Het
Ccdc50 A T 16: 27,263,294 (GRCm39) R264S probably damaging Het
Cdhr18 T A 14: 13,865,990 (GRCm38) K300* probably null Het
Chd9 T A 8: 91,660,147 (GRCm39) V369E probably benign Het
Cnnm1 A G 19: 43,428,884 (GRCm39) M1V probably null Het
Col4a1 T A 8: 11,251,665 (GRCm39) probably benign Het
Crtac1 A G 19: 42,322,386 (GRCm39) V118A probably damaging Het
Ddx59 T A 1: 136,344,482 (GRCm39) V51D probably benign Het
Dipk1c A T 18: 84,748,812 (GRCm39) T137S probably damaging Het
Dtd2 G C 12: 52,051,734 (GRCm39) probably null Het
Ehmt1 A T 2: 24,774,347 (GRCm39) probably null Het
Emc1 T A 4: 139,090,496 (GRCm39) L412* probably null Het
Ep400 T C 5: 110,904,389 (GRCm39) N70S possibly damaging Het
Ercc6l2 T C 13: 64,018,549 (GRCm39) probably benign Het
Fry T C 5: 150,336,814 (GRCm39) V1395A probably benign Het
Gps1 A G 11: 120,677,259 (GRCm39) N186S possibly damaging Het
Hdgf T A 3: 87,821,535 (GRCm39) D128E probably benign Het
Hipk3 A G 2: 104,301,107 (GRCm39) S362P probably damaging Het
Hypk C A 2: 121,288,683 (GRCm39) H116Q possibly damaging Het
Ifna9 T A 4: 88,510,508 (GRCm39) T39S possibly damaging Het
Itgae A C 11: 73,006,969 (GRCm39) D405A probably damaging Het
Itprid1 T C 6: 55,945,045 (GRCm39) S589P probably benign Het
Kdm5a T C 6: 120,358,625 (GRCm39) S223P probably benign Het
Kif21a C T 15: 90,821,497 (GRCm39) S1432N possibly damaging Het
Klhl1 A T 14: 96,584,316 (GRCm39) C305S possibly damaging Het
Lrrn2 A G 1: 132,866,230 (GRCm39) S432G probably benign Het
Mlana T A 19: 29,682,098 (GRCm39) S50R probably damaging Het
Mycbp2 A T 14: 103,364,149 (GRCm39) H4383Q probably damaging Het
Ncor1 A G 11: 62,216,442 (GRCm39) S1469P probably damaging Het
Nol6 G T 4: 41,121,531 (GRCm39) F270L probably benign Het
Nr2c2 T A 6: 92,137,382 (GRCm39) M431K probably damaging Het
Nrap T C 19: 56,368,688 (GRCm39) I243V probably damaging Het
Obscn T C 11: 58,951,754 (GRCm39) I4297V possibly damaging Het
Onecut2 A G 18: 64,474,591 (GRCm39) K381E probably damaging Het
Or52n1 T A 7: 104,383,396 (GRCm39) E58D probably benign Het
Or8k23 T C 2: 86,186,205 (GRCm39) I174V probably benign Het
Palb2 A T 7: 121,716,583 (GRCm39) probably null Het
Plod1 T C 4: 148,000,280 (GRCm39) K260E possibly damaging Het
Rgsl1 T C 1: 153,679,876 (GRCm39) probably null Het
Rpe65 T A 3: 159,310,037 (GRCm39) F103L probably benign Het
Ryr3 C T 2: 112,672,218 (GRCm39) A1438T possibly damaging Het
Slc17a3 G A 13: 24,042,037 (GRCm39) V402M possibly damaging Het
Slc19a3 A T 1: 83,000,678 (GRCm39) F113Y probably damaging Het
Snph C T 2: 151,435,431 (GRCm39) C430Y probably damaging Het
Tarbp1 T C 8: 127,167,510 (GRCm39) I1101V probably benign Het
Tatdn1 G A 15: 58,793,020 (GRCm39) L120F possibly damaging Het
Trav3-3 A G 14: 53,903,828 (GRCm39) K49E probably benign Het
Trpv5 T C 6: 41,630,183 (GRCm39) T636A probably benign Het
Ube2l6 A G 2: 84,639,418 (GRCm39) D127G possibly damaging Het
Usp33 T A 3: 152,080,428 (GRCm39) probably null Het
Usp53 A T 3: 122,727,954 (GRCm39) F876Y probably benign Het
Utrn A T 10: 12,615,223 (GRCm39) I316K probably benign Het
Zfp106 G T 2: 120,365,337 (GRCm39) Q357K probably damaging Het
Zfp143 T C 7: 109,673,398 (GRCm39) V138A 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
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
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'- GCGTCTCAACCACTCATGTC -3'
(R):5'- TGTACACCATTACTTAACTGATGCC -3'

Sequencing Primer
(F):5'- TCAACCACTCATGTCTCCCCATAC -3'
(R):5'- ATTGGGTTCCCTGTGTTCTGATTAC -3'
Posted On 2015-04-17