Incidental Mutation 'R2215:Zfp229'
ID241122
Institutional Source Beutler Lab
Gene Symbol Zfp229
Ensembl Gene ENSMUSG00000061544
Gene Namezinc finger protein 229
Synonyms
MMRRC Submission 040217-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.164) question?
Stock #R2215 (G1)
Quality Score225
Status Validated
Chromosome17
Chromosomal Location21730795-21769342 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 21746277 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 496 (V496G)
Ref Sequence ENSEMBL: ENSMUSP00000138107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065871] [ENSMUST00000182603] [ENSMUST00000182827] [ENSMUST00000183192]
Predicted Effect possibly damaging
Transcript: ENSMUST00000065871
AA Change: V496G

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000065379
Gene: ENSMUSG00000061544
AA Change: V496G

DomainStartEndE-ValueType
KRAB 13 73 7.74e-30 SMART
ZnF_C2H2 229 249 1.88e2 SMART
ZnF_C2H2 257 279 1.38e-3 SMART
ZnF_C2H2 285 307 3.63e-3 SMART
ZnF_C2H2 312 334 9.44e-2 SMART
ZnF_C2H2 340 362 3.58e-2 SMART
ZnF_C2H2 368 390 2.99e-4 SMART
ZnF_C2H2 395 417 2.36e-2 SMART
ZnF_C2H2 423 445 2.09e-3 SMART
ZnF_C2H2 451 473 1.18e-2 SMART
ZnF_C2H2 479 501 6.78e-3 SMART
ZnF_C2H2 507 529 1.28e-3 SMART
ZnF_C2H2 535 557 7.05e-1 SMART
ZnF_C2H2 562 584 8.02e-5 SMART
ZnF_C2H2 590 612 9.58e-3 SMART
ZnF_C2H2 618 640 7.78e-3 SMART
ZnF_C2H2 646 668 3.83e-2 SMART
ZnF_C2H2 674 696 1.72e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000182603
AA Change: V496G

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138107
Gene: ENSMUSG00000061544
AA Change: V496G

DomainStartEndE-ValueType
KRAB 13 73 7.74e-30 SMART
Pfam:zf-C2H2_6 205 219 3.9e-1 PFAM
ZnF_C2H2 229 249 1.88e2 SMART
ZnF_C2H2 257 279 1.38e-3 SMART
ZnF_C2H2 285 307 3.63e-3 SMART
ZnF_C2H2 312 334 9.44e-2 SMART
ZnF_C2H2 340 362 3.58e-2 SMART
ZnF_C2H2 368 390 2.99e-4 SMART
ZnF_C2H2 395 417 2.36e-2 SMART
ZnF_C2H2 423 445 2.09e-3 SMART
ZnF_C2H2 451 473 1.18e-2 SMART
ZnF_C2H2 479 501 6.78e-3 SMART
ZnF_C2H2 507 529 1.28e-3 SMART
ZnF_C2H2 535 557 7.05e-1 SMART
ZnF_C2H2 562 584 8.02e-5 SMART
ZnF_C2H2 590 612 9.58e-3 SMART
ZnF_C2H2 618 640 7.78e-3 SMART
ZnF_C2H2 646 668 3.83e-2 SMART
ZnF_C2H2 674 696 1.72e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182827
SMART Domains Protein: ENSMUSP00000138478
Gene: ENSMUSG00000061544

DomainStartEndE-ValueType
KRAB 13 73 7.74e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183192
SMART Domains Protein: ENSMUSP00000138265
Gene: ENSMUSG00000061544

DomainStartEndE-ValueType
KRAB 13 73 7.74e-30 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (68/68)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,363,793 S1899T probably damaging Het
Accs G T 2: 93,841,898 N208K probably benign Het
Actn4 C A 7: 28,918,753 V22L possibly damaging Het
Adam21 A G 12: 81,560,290 S233P probably damaging Het
Agmat C T 4: 141,749,588 R102C probably benign Het
Akap8l T C 17: 32,321,595 E608G possibly damaging Het
Arap2 T C 5: 62,677,176 I788V probably damaging Het
Arhgef12 G T 9: 43,005,871 H391N probably damaging Het
Arhgef28 G T 13: 98,051,021 H255Q possibly damaging Het
Baz1a G A 12: 54,975,369 R43* probably null Het
Bcas3 T C 11: 85,801,943 S862P probably damaging Het
Blm A T 7: 80,499,847 H671Q possibly damaging Het
Bmp8a C T 4: 123,325,118 V166I probably benign Het
Cep120 G T 18: 53,727,635 P241Q probably damaging Het
Col14a1 G A 15: 55,380,842 G437E unknown Het
Cyp2a5 T C 7: 26,840,475 L3S probably damaging Het
D16Ertd472e T C 16: 78,545,267 T242A probably benign Het
Dach1 A G 14: 98,168,481 probably null Het
Ddx20 A T 3: 105,680,340 probably benign Het
Eif4enif1 A G 11: 3,227,476 S185G probably damaging Het
Ep400 A T 5: 110,693,555 probably benign Het
Fam117b T A 1: 59,969,060 I351K probably damaging Het
Fbxo31 T C 8: 121,566,311 I112V probably benign Het
Galntl5 A T 5: 25,198,478 N149I probably damaging Het
Gja8 A T 3: 96,919,902 F148Y probably damaging Het
Gm9774 G A 3: 92,428,423 A324V probably damaging Het
Gpatch1 A T 7: 35,293,827 L531Q possibly damaging Het
Gprin1 G A 13: 54,740,233 T76M probably damaging Het
Htr4 T A 18: 62,413,716 C113* probably null Het
Igf1r T A 7: 68,165,234 D294E probably benign Het
Kdm6b G A 11: 69,405,044 P799L unknown Het
Lat A T 7: 126,367,965 V139E probably damaging Het
Lrrc34 G A 3: 30,643,529 R51C probably benign Het
Map3k1 A G 13: 111,755,788 S978P probably benign Het
Masp1 T A 16: 23,452,521 D659V possibly damaging Het
Mcam A T 9: 44,139,953 R415* probably null Het
Mtmr10 A G 7: 64,337,655 T648A probably benign Het
Myh2 T C 11: 67,191,737 W1378R probably benign Het
Nipsnap2 A G 5: 129,739,585 E64G probably damaging Het
Olfr1240 T C 2: 89,440,037 M81V probably benign Het
Olfr1412 G A 1: 92,588,986 V219I probably benign Het
Olfr503 T C 7: 108,544,888 L119P probably damaging Het
Olfr788 A T 10: 129,473,420 I243F probably damaging Het
Pcdhb8 T G 18: 37,357,074 S602A probably damaging Het
Peg10 A T 6: 4,756,918 probably benign Het
Pld1 A T 3: 28,078,393 I577F probably benign Het
Plekhm1 A T 11: 103,376,985 I720N probably damaging Het
Ppp2r1a A G 17: 20,961,743 probably null Het
Retreg3 G T 11: 101,119,633 Y49* probably null Het
Rrp36 T C 17: 46,672,820 E22G possibly damaging Het
Sec14l2 C A 11: 4,109,169 A167S probably damaging Het
Sema5b A G 16: 35,660,215 T751A probably damaging Het
Smarcc1 C A 9: 110,237,839 probably benign Het
Smox T C 2: 131,520,270 probably null Het
Spats2l A T 1: 57,946,416 T543S possibly damaging Het
Sppl2a G T 2: 126,927,834 T34K probably benign Het
Svep1 T C 4: 58,138,602 probably benign Het
Tet2 T A 3: 133,486,601 I691F probably benign Het
Tnxb T C 17: 34,704,140 Y2566H possibly damaging Het
Ttn T C 2: 76,740,509 E26680G probably damaging Het
Txlna T C 4: 129,639,318 E139G possibly damaging Het
Ubap2 T C 4: 41,196,483 probably null Het
Ubr3 A T 2: 69,979,317 probably null Het
Usp37 A C 1: 74,444,526 F844V probably damaging Het
Usp6nl A G 2: 6,424,339 D204G probably damaging Het
Vmn1r230 T C 17: 20,847,422 I291T probably benign Het
Other mutations in Zfp229
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00733:Zfp229 APN 17 21739502 missense possibly damaging 0.52
R0268:Zfp229 UTSW 17 21745841 missense probably benign
R0344:Zfp229 UTSW 17 21745841 missense probably benign
R0608:Zfp229 UTSW 17 21746634 missense probably damaging 1.00
R1672:Zfp229 UTSW 17 21745847 missense probably damaging 1.00
R2519:Zfp229 UTSW 17 21745587 missense possibly damaging 0.89
R2937:Zfp229 UTSW 17 21745503 missense probably damaging 1.00
R2965:Zfp229 UTSW 17 21746029 missense probably damaging 1.00
R3108:Zfp229 UTSW 17 21746816 missense probably damaging 1.00
R3768:Zfp229 UTSW 17 21745863 missense probably damaging 1.00
R3778:Zfp229 UTSW 17 21745202 missense probably benign 0.44
R3850:Zfp229 UTSW 17 21745862 missense probably damaging 1.00
R4273:Zfp229 UTSW 17 21746821 missense probably benign 0.02
R4731:Zfp229 UTSW 17 21745286 missense possibly damaging 0.73
R4732:Zfp229 UTSW 17 21745286 missense possibly damaging 0.73
R4733:Zfp229 UTSW 17 21745286 missense possibly damaging 0.73
R4818:Zfp229 UTSW 17 21743904 missense probably benign 0.33
R4929:Zfp229 UTSW 17 21746373 missense probably damaging 1.00
R5512:Zfp229 UTSW 17 21745036 splice site probably null
R7124:Zfp229 UTSW 17 21742616 missense probably damaging 0.98
R7511:Zfp229 UTSW 17 21745064 missense probably benign 0.00
R7576:Zfp229 UTSW 17 21745299 missense probably damaging 1.00
R7840:Zfp229 UTSW 17 21746150 nonsense probably null
R7923:Zfp229 UTSW 17 21746150 nonsense probably null
Z1177:Zfp229 UTSW 17 21743942 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GTGCTTTACCTGGTGCTCATC -3'
(R):5'- AGTTGATAGAAGGCCTTACCACA -3'

Sequencing Primer
(F):5'- GTGCTCATCTCTTAGAGCACATGAG -3'
(R):5'- ACAAGCATGAGGTTTCTCTCCAG -3'
Posted On2014-10-15