Incidental Mutation 'R4684:Zfp251'
ID353557
Institutional Source Beutler Lab
Gene Symbol Zfp251
Ensembl Gene ENSMUSG00000022526
Gene Namezinc finger protein 251
Synonyms9130001M19Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock #R4684 (G1)
Quality Score225
Status Not validated
Chromosome15
Chromosomal Location76851609-76871435 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 76854407 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 162 (D162G)
Ref Sequence ENSEMBL: ENSMUSP00000079268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080406] [ENSMUST00000229494]
Predicted Effect possibly damaging
Transcript: ENSMUST00000080406
AA Change: D162G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000079268
Gene: ENSMUSG00000022526
AA Change: D162G

DomainStartEndE-ValueType
KRAB 15 75 3.24e-32 SMART
ZnF_C2H2 202 224 3.69e-4 SMART
ZnF_C2H2 230 252 3.34e-2 SMART
ZnF_C2H2 258 280 1.69e-3 SMART
ZnF_C2H2 286 308 1.18e-2 SMART
ZnF_C2H2 314 336 4.94e-5 SMART
ZnF_C2H2 342 364 1.82e-3 SMART
ZnF_C2H2 370 392 2.71e-2 SMART
ZnF_C2H2 398 420 1.56e-2 SMART
ZnF_C2H2 426 448 1.2e-3 SMART
ZnF_C2H2 454 476 1.28e-3 SMART
ZnF_C2H2 482 504 1.3e-4 SMART
PDB:1MEY|G 551 610 2e-8 PDB
Blast:PHD 556 610 2e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000229494
AA Change: D157G

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230315
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310039H08Rik T C 17: 46,772,946 V45A probably benign Het
4921509C19Rik A G 2: 151,471,871 I629T unknown Het
4933402N03Rik T C 7: 131,138,684 R268G probably damaging Het
Abca13 A T 11: 9,434,193 R3882* probably null Het
Adamts3 T G 5: 89,703,007 T558P probably damaging Het
Ano2 A G 6: 125,790,341 N214S probably benign Het
Arhgef4 A T 1: 34,811,785 probably null Het
Boc C T 16: 44,500,380 A306T probably benign Het
Capn10 T C 1: 92,943,781 F367S probably damaging Het
Ccdc6 T C 10: 70,189,256 probably benign Het
Cobll1 G T 2: 65,099,028 S688R possibly damaging Het
Cpxm2 G T 7: 132,049,038 P631Q possibly damaging Het
Cyp2c68 A G 19: 39,699,335 V406A possibly damaging Het
Cyp4a30b T A 4: 115,455,003 Y118N probably damaging Het
Dgki A T 6: 37,299,846 probably benign Het
Disp2 A G 2: 118,792,756 N1323S probably damaging Het
Dock1 T A 7: 134,724,409 Y42* probably null Het
Eps8l1 C A 7: 4,473,945 P471Q probably damaging Het
Fam20a A C 11: 109,721,687 L10R unknown Het
Fpr-rs4 T A 17: 18,022,184 I151K probably damaging Het
Gga1 C A 15: 78,885,309 P161T probably damaging Het
Gm8909 A T 17: 36,165,858 H241Q possibly damaging Het
Gm9923 T A 10: 72,309,476 Y52* probably null Het
Gucy2g A G 19: 55,206,256 F910L probably damaging Het
Helz T C 11: 107,649,145 V315A probably damaging Het
Hk2 T C 6: 82,739,648 Y301C probably damaging Het
Htt C T 5: 34,852,765 P1521S probably damaging Het
Iah1 T C 12: 21,316,433 M1T probably null Het
Ik T C 18: 36,752,414 S287P probably damaging Het
Itga1 T A 13: 115,049,370 D32V probably damaging Het
Itpr2 A G 6: 146,373,173 F837S probably damaging Het
Klk14 A G 7: 43,691,968 I15V probably benign Het
Kng2 T C 16: 22,987,641 I603V possibly damaging Het
Lama1 T C 17: 67,773,778 I1267T possibly damaging Het
Lrp1b A C 2: 40,922,304 L2430V probably benign Het
Lrrn3 T G 12: 41,454,244 K25Q possibly damaging Het
Lta4h T A 10: 93,468,816 N233K probably benign Het
Mapk13 T C 17: 28,770,049 I53T probably damaging Het
Mdn1 T C 4: 32,666,430 F123L probably damaging Het
Mettl7b G T 10: 128,960,702 C79* probably null Het
Myh4 G C 11: 67,245,811 D472H probably damaging Het
Nipa2 A T 7: 55,935,826 N121K probably benign Het
Nostrin C T 2: 69,183,924 T408M probably benign Het
Olfr347 A G 2: 36,734,674 M118V probably damaging Het
Olfr725 T C 14: 50,034,830 D191G probably damaging Het
Oosp2 C T 19: 11,649,653 R102H probably damaging Het
Osgin2 T A 4: 16,001,946 I202L probably benign Het
Pbld2 C A 10: 63,057,697 R271S probably damaging Het
Pex6 C T 17: 46,712,101 T201I probably benign Het
Pilra T C 5: 137,835,515 I96M probably damaging Het
Pllp T A 8: 94,677,278 D47V possibly damaging Het
Plxna2 A G 1: 194,762,594 S765G probably benign Het
Prkca A T 11: 107,961,608 Y100N probably damaging Het
Prkg1 T A 19: 31,664,179 K35* probably null Het
Psmc2 A G 5: 21,803,265 D389G possibly damaging Het
Rnf213 A G 11: 119,441,125 T2387A probably damaging Het
Ros1 T C 10: 52,129,096 N914S probably damaging Het
Ruvbl1 C A 6: 88,491,599 T367K probably benign Het
Scube2 C T 7: 109,810,713 R525H probably damaging Het
Sec14l4 T C 11: 4,035,200 probably null Het
Secisbp2l T C 2: 125,745,942 D751G probably damaging Het
Setd3 T C 12: 108,108,690 D402G probably benign Het
Slc15a2 T A 16: 36,757,849 K359N probably damaging Het
Slc25a21 A G 12: 57,196,936 S2P probably benign Het
Slfn8 A T 11: 83,017,506 H70Q probably benign Het
Spef2 T C 15: 9,647,490 I944V probably benign Het
Spg11 A G 2: 122,065,076 F1887S probably damaging Het
Sptbn4 T C 7: 27,364,419 E879G probably damaging Het
Sptbn4 A T 7: 27,366,735 D649E possibly damaging Het
Stx5a C A 19: 8,743,361 R121S probably damaging Het
Tbcd T C 11: 121,493,771 L26P probably damaging Het
Tecpr1 T C 5: 144,207,437 D649G probably benign Het
Tfam A G 10: 71,237,847 S32P probably benign Het
Trmt44 C T 5: 35,558,043 R642H probably benign Het
Trpm3 G A 19: 22,987,781 A1547T probably benign Het
Ttll6 T C 11: 96,153,177 V519A probably benign Het
Umodl1 T C 17: 30,998,114 F1107L probably benign Het
Usp5 A T 6: 124,817,956 V677E probably damaging Het
Utp20 A T 10: 88,807,445 L605* probably null Het
Utrn T C 10: 12,745,240 D229G probably damaging Het
Uty A T Y: 1,176,502 L178* probably null Het
Vmn2r88 A T 14: 51,413,334 D168V possibly damaging Het
Vps13b T C 15: 35,646,178 V1476A probably damaging Het
Vps13b C T 15: 35,841,341 H2506Y probably benign Het
Vps13b C A 15: 35,879,821 T3014K probably benign Het
Vps37c T C 19: 10,712,768 V198A probably benign Het
Zfc3h1 T C 10: 115,423,385 Y1621H probably benign Het
Zfp292 T C 4: 34,807,078 T1994A probably benign Het
Zfp791 A G 8: 85,110,930 Y102H probably benign Het
Other mutations in Zfp251
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01433:Zfp251 APN 15 76854555 missense probably benign 0.33
IGL02868:Zfp251 APN 15 76854534 missense probably damaging 1.00
R0011:Zfp251 UTSW 15 76854554 missense probably benign 0.42
R0011:Zfp251 UTSW 15 76854554 missense probably benign 0.42
R1199:Zfp251 UTSW 15 76854236 missense possibly damaging 0.73
R1201:Zfp251 UTSW 15 76854236 missense possibly damaging 0.73
R1321:Zfp251 UTSW 15 76854236 missense possibly damaging 0.73
R1322:Zfp251 UTSW 15 76854236 missense possibly damaging 0.73
R1565:Zfp251 UTSW 15 76853038 missense probably damaging 0.96
R1565:Zfp251 UTSW 15 76853039 missense possibly damaging 0.81
R1587:Zfp251 UTSW 15 76870284 missense probably damaging 0.98
R1752:Zfp251 UTSW 15 76853663 missense possibly damaging 0.71
R3771:Zfp251 UTSW 15 76853636 missense possibly damaging 0.67
R3772:Zfp251 UTSW 15 76853636 missense possibly damaging 0.67
R3773:Zfp251 UTSW 15 76853636 missense possibly damaging 0.67
R5733:Zfp251 UTSW 15 76870327 missense probably damaging 1.00
R6341:Zfp251 UTSW 15 76854137 missense probably damaging 1.00
R7050:Zfp251 UTSW 15 76854296 missense possibly damaging 0.53
R7605:Zfp251 UTSW 15 76854357 missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- AGGCTTTTCCCCAGTGTGAC -3'
(R):5'- AGATTCTGAGATCGAGGCCG -3'

Sequencing Primer
(F):5'- CAGTGTGACTCCTGCGGTG -3'
(R):5'- GAGCTATCCATTTTAAACCAGAAATG -3'
Posted On2015-10-21