Incidental Mutation 'R5704:Zfp606'
ID 451850
Institutional Source Beutler Lab
Gene Symbol Zfp606
Ensembl Gene ENSMUSG00000030386
Gene Name zinc finger protein 606
Synonyms 2410022M24Rik
MMRRC Submission 043329-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R5704 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 12212220-12230162 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 12227456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Glycine at position 468 (W468G)
Ref Sequence ENSEMBL: ENSMUSP00000148075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098822] [ENSMUST00000151933] [ENSMUST00000209403]
AlphaFold Q7TSV0
Predicted Effect possibly damaging
Transcript: ENSMUST00000098822
AA Change: W526G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000096421
Gene: ENSMUSG00000030386
AA Change: W526G

DomainStartEndE-ValueType
KRAB 63 123 3.36e-39 SMART
ZnF_C2H2 291 313 1.83e2 SMART
ZnF_C2H2 403 425 2.89e1 SMART
ZnF_C2H2 431 453 2.3e-5 SMART
ZnF_C2H2 459 481 1.28e-3 SMART
ZnF_C2H2 487 509 3.95e-4 SMART
ZnF_C2H2 515 537 5.67e-5 SMART
ZnF_C2H2 543 565 6.88e-4 SMART
ZnF_C2H2 571 593 9.22e-5 SMART
ZnF_C2H2 599 621 1.95e-3 SMART
ZnF_C2H2 627 649 1.47e-3 SMART
ZnF_C2H2 655 677 3.39e-3 SMART
ZnF_C2H2 683 705 4.11e-2 SMART
ZnF_C2H2 711 733 4.87e-4 SMART
ZnF_C2H2 739 761 1.67e-2 SMART
ZnF_C2H2 767 789 2.4e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133515
Predicted Effect probably benign
Transcript: ENSMUST00000151933
SMART Domains Protein: ENSMUSP00000122197
Gene: ENSMUSG00000030386

DomainStartEndE-ValueType
KRAB 5 65 3.36e-39 SMART
ZnF_C2H2 233 255 1.83e2 SMART
ZnF_C2H2 345 367 2.89e1 SMART
ZnF_C2H2 373 395 2.3e-5 SMART
ZnF_C2H2 401 423 1.28e-3 SMART
ZnF_C2H2 429 451 3.95e-4 SMART
ZnF_C2H2 457 479 5.67e-5 SMART
ZnF_C2H2 485 507 6.88e-4 SMART
ZnF_C2H2 513 535 9.22e-5 SMART
ZnF_C2H2 541 563 1.95e-3 SMART
ZnF_C2H2 569 591 1.47e-3 SMART
ZnF_C2H2 597 619 3.39e-3 SMART
ZnF_C2H2 625 647 4.11e-2 SMART
ZnF_C2H2 653 675 4.87e-4 SMART
ZnF_C2H2 681 703 1.67e-2 SMART
ZnF_C2H2 709 731 2.4e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000209403
AA Change: W468G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Meta Mutation Damage Score 0.1381 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (85/87)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger protein containing a Kruppel-associated box (KRAB) domain at its N-terminus, followed by contiguous C2H2 zinc finger motifs. The encoded protein is a nuclear protein that can act as a transcriptional repressor of growth factor-mediated signaling pathways in a reporter gene assay. This protein has been shown to interact with the SRY-box 9 gene product, and suppresses its transcriptional activity by inhibiting its DNA binding activity. Reduced expression of this gene promotes chondrocyte differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 G A 5: 105,116,036 (GRCm39) A266V probably damaging Het
Acad10 A G 5: 121,769,606 (GRCm39) S617P probably benign Het
Ahi1 A C 10: 20,950,326 (GRCm39) M126L probably benign Het
Alk T C 17: 72,910,115 (GRCm39) E197G probably damaging Het
Alyref2 A T 1: 171,331,547 (GRCm39) Y108F probably damaging Het
Ankrd26 T G 6: 118,500,843 (GRCm39) H876P probably damaging Het
Arfgef1 T C 1: 10,229,808 (GRCm39) T1298A probably damaging Het
Arhgap33 T A 7: 30,219,045 (GRCm39) probably benign Het
Arhgef17 A G 7: 100,530,548 (GRCm39) S1413P probably damaging Het
Arid1a A T 4: 133,409,050 (GRCm39) V1819E unknown Het
Asprv1 A G 6: 86,605,532 (GRCm39) N126S probably damaging Het
Atg16l2 T C 7: 100,949,418 (GRCm39) Y43C probably damaging Het
Atp13a3 G T 16: 30,140,697 (GRCm39) T1160K probably benign Het
Atp1a3 T C 7: 24,696,736 (GRCm39) T272A probably damaging Het
Bpifa3 G T 2: 153,979,562 (GRCm39) probably null Het
Bri3 T C 5: 144,192,716 (GRCm39) V80A probably damaging Het
Ccdc28a T A 10: 18,106,320 (GRCm39) E2V probably damaging Het
Ccdc7a T A 8: 129,706,577 (GRCm39) probably benign Het
Cds2 G A 2: 132,135,249 (GRCm39) V47I probably benign Het
Cela2a G A 4: 141,553,299 (GRCm39) probably benign Het
Ckap5 A G 2: 91,406,548 (GRCm39) Y783C probably damaging Het
Cmtr1 G C 17: 29,882,217 (GRCm39) A23P possibly damaging Het
Crym C A 7: 119,801,163 (GRCm39) probably null Het
Def6 T G 17: 28,447,200 (GRCm39) D610E probably benign Het
Dnajc15 T C 14: 78,063,898 (GRCm39) Y130C probably damaging Het
Dock8 G A 19: 25,151,586 (GRCm39) V1560I probably damaging Het
Eif4g3 T C 4: 137,918,003 (GRCm39) V1501A probably damaging Het
Esyt1 A G 10: 128,347,379 (GRCm39) S1049P probably damaging Het
Gm4952 G T 19: 12,604,275 (GRCm39) R229L probably damaging Het
Golga5 T A 12: 102,455,707 (GRCm39) H548Q probably benign Het
Gspt1 A T 16: 11,046,057 (GRCm39) D449E possibly damaging Het
Gtf3c2 T A 5: 31,316,454 (GRCm39) D732V probably damaging Het
Hax1 T A 3: 89,903,403 (GRCm39) Q168L probably damaging Het
Hectd2 T A 19: 36,576,291 (GRCm39) S91T possibly damaging Het
Igfbp2 T A 1: 72,891,303 (GRCm39) H300Q probably benign Het
Il12rb2 T C 6: 67,269,197 (GRCm39) N538S possibly damaging Het
Insr G A 8: 3,235,122 (GRCm39) P124L possibly damaging Het
Irak3 C A 10: 119,981,594 (GRCm39) R437L probably benign Het
Jhy C T 9: 40,808,734 (GRCm39) V676I probably damaging Het
Kcns3 G A 12: 11,142,328 (GRCm39) R124C probably benign Het
Lactb G A 9: 66,863,058 (GRCm39) R519* probably null Het
Mdfic G A 6: 15,770,291 (GRCm39) G94D probably damaging Het
Mospd3 A G 5: 137,598,613 (GRCm39) V42A possibly damaging Het
Mov10 A G 3: 104,706,912 (GRCm39) V666A probably benign Het
Mucl1 T C 15: 103,785,663 (GRCm39) I15V probably benign Het
Mug1 T A 6: 121,828,392 (GRCm39) V268D possibly damaging Het
Myo5c T A 9: 75,180,185 (GRCm39) S709T probably benign Het
Nol11 T A 11: 107,064,195 (GRCm39) E519V probably benign Het
Nrp2 A T 1: 62,824,267 (GRCm39) I791L probably benign Het
Nudt19 A G 7: 35,250,972 (GRCm39) Y256H probably benign Het
Nudt8 C T 19: 4,050,777 (GRCm39) R42C probably damaging Het
Or5ac16 A G 16: 59,022,369 (GRCm39) L140P probably damaging Het
Or6c213 T A 10: 129,574,685 (GRCm39) I34F probably benign Het
Pcdhga12 A G 18: 37,900,422 (GRCm39) Y418C probably damaging Het
Pds5a A G 5: 65,784,422 (GRCm39) probably null Het
Pdzd2 T C 15: 12,385,761 (GRCm39) D1003G probably benign Het
Pglyrp4 T A 3: 90,647,581 (GRCm39) probably null Het
Phip T C 9: 82,753,408 (GRCm39) N1779D probably damaging Het
Postn G T 3: 54,279,527 (GRCm39) C335F probably damaging Het
Ppp4r3a T C 12: 101,049,619 (GRCm39) probably benign Het
Prrt2 C T 7: 126,618,590 (GRCm39) V292M probably damaging Het
Rpl18 T C 7: 45,370,146 (GRCm39) V138A possibly damaging Het
Rps14 G A 18: 60,910,205 (GRCm39) probably benign Het
Sbno1 A G 5: 124,533,956 (GRCm39) probably null Het
Siah2 T G 3: 58,583,821 (GRCm39) K155T probably damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc25a39 T A 11: 102,294,220 (GRCm39) probably benign Het
Slco1a7 T C 6: 141,658,980 (GRCm39) M539V probably benign Het
Smok2b T A 17: 13,455,231 (GRCm39) C464S probably damaging Het
Spata31 G A 13: 65,069,855 (GRCm39) V668I probably benign Het
Tbxas1 C A 6: 38,998,067 (GRCm39) H212N probably benign Het
Tenm1 A G X: 42,163,572 (GRCm39) V107A possibly damaging Het
Thada C T 17: 84,538,329 (GRCm39) A1560T probably benign Het
Tmem241 G C 18: 12,197,263 (GRCm39) F65L probably damaging Het
Ttc16 C G 2: 32,659,137 (GRCm39) E321Q probably damaging Het
Ttn A T 2: 76,748,929 (GRCm39) L4040H possibly damaging Het
Tyw1 G A 5: 130,310,863 (GRCm39) W437* probably null Het
Unc79 T A 12: 102,968,202 (GRCm39) Y143N probably damaging Het
Urb2 C T 8: 124,764,921 (GRCm39) R1310W probably damaging Het
Vmn2r4 T C 3: 64,317,370 (GRCm39) I34V probably benign Het
Zfp513 C T 5: 31,358,010 (GRCm39) C121Y possibly damaging Het
Zfyve16 C T 13: 92,640,979 (GRCm39) probably null Het
Other mutations in Zfp606
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Zfp606 APN 7 12,228,159 (GRCm39) missense probably damaging 0.99
F5770:Zfp606 UTSW 7 12,215,123 (GRCm39) splice site probably benign
R1680:Zfp606 UTSW 7 12,227,898 (GRCm39) missense probably damaging 1.00
R1861:Zfp606 UTSW 7 12,214,858 (GRCm39) unclassified probably benign
R1943:Zfp606 UTSW 7 12,227,615 (GRCm39) missense probably damaging 1.00
R2142:Zfp606 UTSW 7 12,213,653 (GRCm39) missense probably damaging 0.99
R2340:Zfp606 UTSW 7 12,227,016 (GRCm39) missense possibly damaging 0.91
R3426:Zfp606 UTSW 7 12,223,591 (GRCm39) missense probably damaging 0.99
R4208:Zfp606 UTSW 7 12,228,102 (GRCm39) missense probably damaging 1.00
R4258:Zfp606 UTSW 7 12,228,267 (GRCm39) splice site probably null
R4383:Zfp606 UTSW 7 12,227,928 (GRCm39) missense probably damaging 1.00
R4393:Zfp606 UTSW 7 12,226,776 (GRCm39) missense probably damaging 1.00
R4782:Zfp606 UTSW 7 12,227,932 (GRCm39) missense probably damaging 1.00
R4858:Zfp606 UTSW 7 12,226,983 (GRCm39) missense possibly damaging 0.89
R5668:Zfp606 UTSW 7 12,226,479 (GRCm39) missense probably benign 0.28
R6064:Zfp606 UTSW 7 12,214,960 (GRCm39) missense possibly damaging 0.82
R6080:Zfp606 UTSW 7 12,228,043 (GRCm39) missense probably damaging 1.00
R6190:Zfp606 UTSW 7 12,227,928 (GRCm39) missense probably damaging 1.00
R6383:Zfp606 UTSW 7 12,226,871 (GRCm39) missense probably benign 0.18
R6964:Zfp606 UTSW 7 12,223,519 (GRCm39) missense probably damaging 1.00
R7193:Zfp606 UTSW 7 12,227,966 (GRCm39) missense probably benign 0.32
R7507:Zfp606 UTSW 7 12,226,868 (GRCm39) missense probably benign 0.18
R7997:Zfp606 UTSW 7 12,228,134 (GRCm39) missense possibly damaging 0.86
R7997:Zfp606 UTSW 7 12,223,519 (GRCm39) missense probably damaging 1.00
R8078:Zfp606 UTSW 7 12,214,942 (GRCm39) missense possibly damaging 0.85
R8209:Zfp606 UTSW 7 12,227,234 (GRCm39) missense probably benign 0.13
R8254:Zfp606 UTSW 7 12,226,788 (GRCm39) missense possibly damaging 0.51
R8701:Zfp606 UTSW 7 12,215,025 (GRCm39) missense unknown
R8904:Zfp606 UTSW 7 12,223,506 (GRCm39) missense possibly damaging 0.71
R9196:Zfp606 UTSW 7 12,227,935 (GRCm39) nonsense probably null
R9214:Zfp606 UTSW 7 12,215,026 (GRCm39) missense unknown
R9321:Zfp606 UTSW 7 12,226,610 (GRCm39) missense possibly damaging 0.53
R9384:Zfp606 UTSW 7 12,227,935 (GRCm39) nonsense probably null
R9416:Zfp606 UTSW 7 12,227,907 (GRCm39) missense possibly damaging 0.86
Z1176:Zfp606 UTSW 7 12,214,952 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGGAGAAAGTCTTTGGTTACGAC -3'
(R):5'- CCAGCTGAAGGACTTTCCACA -3'

Sequencing Primer
(F):5'- GGAATCGTTCAGCCCTTACTAAG -3'
(R):5'- GCTGAAGGACTTTCCACACTCAG -3'
Posted On 2017-01-03