Incidental Mutation 'R4090:Zfp281'
ID 317542
Institutional Source Beutler Lab
Gene Symbol Zfp281
Ensembl Gene ENSMUSG00000041483
Gene Name zinc finger protein 281
Synonyms
MMRRC Submission 040983-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4090 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 136552639-136557791 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 136553859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 279 (I279N)
Ref Sequence ENSEMBL: ENSMUSP00000107677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047734] [ENSMUST00000112046]
AlphaFold Q99LI5
Predicted Effect probably damaging
Transcript: ENSMUST00000047734
AA Change: I279N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039003
Gene: ENSMUSG00000041483
AA Change: I279N

DomainStartEndE-ValueType
low complexity region 4 36 N/A INTRINSIC
low complexity region 83 95 N/A INTRINSIC
low complexity region 161 171 N/A INTRINSIC
low complexity region 180 191 N/A INTRINSIC
low complexity region 230 241 N/A INTRINSIC
ZnF_C2H2 258 280 3.34e-2 SMART
ZnF_C2H2 286 308 6.78e-3 SMART
ZnF_C2H2 314 336 1.43e-1 SMART
ZnF_C2H2 342 362 2.97e1 SMART
low complexity region 397 407 N/A INTRINSIC
low complexity region 488 501 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112046
AA Change: I279N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107677
Gene: ENSMUSG00000041483
AA Change: I279N

DomainStartEndE-ValueType
low complexity region 4 36 N/A INTRINSIC
low complexity region 83 95 N/A INTRINSIC
low complexity region 161 171 N/A INTRINSIC
low complexity region 180 191 N/A INTRINSIC
low complexity region 230 241 N/A INTRINSIC
ZnF_C2H2 258 280 3.34e-2 SMART
ZnF_C2H2 286 308 6.78e-3 SMART
ZnF_C2H2 314 336 1.43e-1 SMART
ZnF_C2H2 342 362 2.97e1 SMART
low complexity region 397 407 N/A INTRINSIC
low complexity region 488 501 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180797
Meta Mutation Damage Score 0.7481 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 96% (53/55)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E7.5 and E8.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T G 10: 106,889,313 (GRCm39) Y169S probably damaging Het
Apc2 A G 10: 80,141,378 (GRCm39) K268E probably damaging Het
Arhgef2 G C 3: 88,551,185 (GRCm39) R765P probably benign Het
Bptf T C 11: 106,972,349 (GRCm39) K840E probably damaging Het
Carf A G 1: 60,175,506 (GRCm39) R245G possibly damaging Het
Cd36 A G 5: 17,990,718 (GRCm39) probably null Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Cldn34c4 A T X: 126,629,011 (GRCm39) V153E probably damaging Het
Col4a4 T A 1: 82,501,643 (GRCm39) Y370F unknown Het
Cplane1 T A 15: 8,241,842 (GRCm39) probably null Het
Ddx4 A G 13: 112,750,295 (GRCm39) V386A probably benign Het
Exoc6 A G 19: 37,560,360 (GRCm39) T126A probably benign Het
Fam83f A T 15: 80,576,393 (GRCm39) N348I possibly damaging Het
Gja8 A G 3: 96,826,468 (GRCm39) V398A probably benign Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm12789 A T 4: 101,845,526 (GRCm39) T72S possibly damaging Het
Gm1988 A G 7: 38,820,292 (GRCm39) noncoding transcript Het
Gm21370 A G 13: 120,488,489 (GRCm39) V20A probably benign Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Hsd17b13 T A 5: 104,113,720 (GRCm39) S245C probably benign Het
Htr1f T C 16: 64,746,324 (GRCm39) K323E probably benign Het
Igkc T C 6: 70,703,442 (GRCm39) probably benign Het
Ksr1 T C 11: 78,918,303 (GRCm39) E535G probably damaging Het
Mlxipl A T 5: 135,161,381 (GRCm39) E433D probably benign Het
Npc1 T C 18: 12,331,219 (GRCm39) probably null Het
Or10ak7 C T 4: 118,791,230 (GRCm39) E272K probably benign Het
Or1e29 A G 11: 73,667,667 (GRCm39) L162P probably damaging Het
Or6y1 A G 1: 174,276,500 (GRCm39) T104A probably benign Het
Or7g17 T C 9: 18,768,398 (GRCm39) I159T probably benign Het
Pcdha3 A G 18: 37,081,504 (GRCm39) R749G probably benign Het
Ppme1 A T 7: 99,997,044 (GRCm39) N122K possibly damaging Het
Rasal1 G A 5: 120,813,674 (GRCm39) V657M possibly damaging Het
Rbm47 A G 5: 66,180,080 (GRCm39) M409T probably benign Het
Rragd C T 4: 33,007,155 (GRCm39) T161M probably damaging Het
Slurp1 T C 15: 74,598,724 (GRCm39) H89R possibly damaging Het
Snap23 A G 2: 120,416,061 (GRCm39) I42V probably benign Het
Sypl2 A G 3: 108,124,992 (GRCm39) I123T possibly damaging Het
Taar8a T A 10: 23,953,062 (GRCm39) V222E probably damaging Het
Tmem171 A T 13: 98,829,096 (GRCm39) V18D probably damaging Het
Topors T C 4: 40,260,794 (GRCm39) D830G unknown Het
Traf3ip3 A G 1: 192,863,628 (GRCm39) V414A probably damaging Het
Tubg1 T A 11: 101,015,364 (GRCm39) M270K possibly damaging Het
Vmn1r188 T C 13: 22,272,772 (GRCm39) V242A probably benign Het
Vmn1r19 T A 6: 57,381,720 (GRCm39) I91N probably damaging Het
Vmn2r12 T A 5: 109,239,412 (GRCm39) M384L probably benign Het
Wdr26 T C 1: 181,030,679 (GRCm39) E205G probably damaging Het
Zfp398 T A 6: 47,843,159 (GRCm39) C272S probably damaging Het
Zfp975 A G 7: 42,312,298 (GRCm39) V105A probably benign Het
Other mutations in Zfp281
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00531:Zfp281 APN 1 136,555,648 (GRCm39) missense probably damaging 1.00
IGL01408:Zfp281 APN 1 136,553,853 (GRCm39) missense probably damaging 1.00
IGL02037:Zfp281 APN 1 136,555,185 (GRCm39) missense possibly damaging 0.64
IGL03233:Zfp281 APN 1 136,554,567 (GRCm39) missense possibly damaging 0.82
PIT4486001:Zfp281 UTSW 1 136,554,741 (GRCm39) missense possibly damaging 0.48
R1514:Zfp281 UTSW 1 136,554,435 (GRCm39) missense probably benign 0.00
R1784:Zfp281 UTSW 1 136,553,091 (GRCm39) small insertion probably benign
R1785:Zfp281 UTSW 1 136,553,091 (GRCm39) small insertion probably benign
R2049:Zfp281 UTSW 1 136,553,091 (GRCm39) small insertion probably benign
R2142:Zfp281 UTSW 1 136,553,091 (GRCm39) small insertion probably benign
R4086:Zfp281 UTSW 1 136,553,859 (GRCm39) missense probably damaging 1.00
R4087:Zfp281 UTSW 1 136,553,859 (GRCm39) missense probably damaging 1.00
R4088:Zfp281 UTSW 1 136,553,859 (GRCm39) missense probably damaging 1.00
R4819:Zfp281 UTSW 1 136,553,448 (GRCm39) missense probably benign
R5380:Zfp281 UTSW 1 136,553,676 (GRCm39) missense possibly damaging 0.93
R6033:Zfp281 UTSW 1 136,554,464 (GRCm39) missense probably benign 0.14
R6033:Zfp281 UTSW 1 136,554,464 (GRCm39) missense probably benign 0.14
R6056:Zfp281 UTSW 1 136,553,178 (GRCm39) missense possibly damaging 0.93
R6213:Zfp281 UTSW 1 136,553,250 (GRCm39) missense probably benign 0.01
R7402:Zfp281 UTSW 1 136,553,190 (GRCm39) missense probably damaging 0.99
R7503:Zfp281 UTSW 1 136,554,678 (GRCm39) missense possibly damaging 0.67
R7969:Zfp281 UTSW 1 136,553,772 (GRCm39) missense probably benign 0.06
R8343:Zfp281 UTSW 1 136,555,620 (GRCm39) missense probably damaging 1.00
R8722:Zfp281 UTSW 1 136,553,334 (GRCm39) missense probably benign 0.00
R9199:Zfp281 UTSW 1 136,553,643 (GRCm39) missense probably benign
R9461:Zfp281 UTSW 1 136,554,500 (GRCm39) missense probably benign 0.28
R9487:Zfp281 UTSW 1 136,555,143 (GRCm39) missense probably damaging 0.96
R9532:Zfp281 UTSW 1 136,554,894 (GRCm39) missense probably benign
R9541:Zfp281 UTSW 1 136,555,303 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAAAGCCAGAATCTCAGGG -3'
(R):5'- GCTTCAACAATCTGTCAGTCCTTG -3'

Sequencing Primer
(F):5'- TCTCAGGGAATCAAAGCCAAG -3'
(R):5'- ACTGTTGGCAAGTGTCACAC -3'
Posted On 2015-05-15