Incidental Mutation 'R4393:Zfp606'
ID 326470
Institutional Source Beutler Lab
Gene Symbol Zfp606
Ensembl Gene ENSMUSG00000030386
Gene Name zinc finger protein 606
Synonyms 2410022M24Rik
MMRRC Submission 041128-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R4393 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 12212220-12230162 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 12226776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 241 (S241F)
Ref Sequence ENSEMBL: ENSMUSP00000148075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098822] [ENSMUST00000151933] [ENSMUST00000209403]
AlphaFold Q7TSV0
Predicted Effect probably benign
Transcript: ENSMUST00000098822
AA Change: S299F

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000096421
Gene: ENSMUSG00000030386
AA Change: S299F

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: S241F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.3223 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.5%
  • 20x: 92.4%
Validation Efficiency 95% (71/75)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433N12Rik C A 9: 3,134,944 (GRCm39) noncoding transcript Het
Adgrg4 T G X: 55,977,703 (GRCm39) L2193V probably damaging Het
Adgrl1 T C 8: 84,665,222 (GRCm39) V1353A probably benign Het
Cep68 A T 11: 20,188,544 (GRCm39) N620K probably benign Het
Clcnkb A G 4: 141,139,547 (GRCm39) S152P probably benign Het
Crybg3 A G 16: 59,380,458 (GRCm39) probably benign Het
Cyp26c1 G A 19: 37,675,105 (GRCm39) R142H probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dlg5 T A 14: 24,228,057 (GRCm39) probably null Het
Dnai7 T C 6: 145,140,304 (GRCm39) T166A possibly damaging Het
Ebf3 C T 7: 136,826,886 (GRCm39) R342H probably damaging Het
Ece2 T C 16: 20,451,598 (GRCm39) V380A probably damaging Het
Epb41l4a C T 18: 34,024,473 (GRCm39) probably null Het
Erbb3 G T 10: 128,408,639 (GRCm39) Q815K probably damaging Het
Ercc3 T A 18: 32,398,674 (GRCm39) M651K probably benign Het
Fam3b C A 16: 97,282,986 (GRCm39) probably null Het
Foxp2 A C 6: 15,377,689 (GRCm39) probably benign Het
Gdf10 T C 14: 33,654,695 (GRCm39) Y401H probably damaging Het
Gm21738 G C 14: 19,417,178 (GRCm38) L117V probably benign Het
Gm6408 A T 5: 146,419,147 (GRCm39) D54V probably damaging Het
H2-T5 C A 17: 36,472,861 (GRCm39) probably benign Het
Hcn4 A G 9: 58,751,583 (GRCm39) E403G unknown Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hjurp A G 1: 88,194,283 (GRCm39) probably benign Het
Hyou1 T A 9: 44,293,169 (GRCm39) V125E probably damaging Het
Il11ra1 T C 4: 41,768,577 (GRCm39) probably null Het
Immt T A 6: 71,849,784 (GRCm39) S435T probably benign Het
Kcnip2 A G 19: 45,800,669 (GRCm39) L19P probably benign Het
Kctd2 T C 11: 115,320,326 (GRCm39) probably benign Het
Mdga1 T C 17: 30,069,491 (GRCm39) D185G probably damaging Het
Mdn1 C T 4: 32,754,482 (GRCm39) T4666M possibly damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Msl2 A G 9: 100,978,676 (GRCm39) E350G probably damaging Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Myo3a A T 2: 22,467,866 (GRCm39) K373N probably damaging Het
Nr5a1 T C 2: 38,584,231 (GRCm39) E396G probably damaging Het
Ogdh G A 11: 6,266,772 (GRCm39) G141D probably damaging Het
Or10q1b T C 19: 13,682,554 (GRCm39) I121T possibly damaging Het
Or2h2c T C 17: 37,424,971 (GRCm39) probably benign Het
Or5w1b A T 2: 87,476,256 (GRCm39) C70* probably null Het
Orc2 C A 1: 58,506,809 (GRCm39) probably null Het
P4ha3 C T 7: 99,954,814 (GRCm39) P291S probably benign Het
Pign T C 1: 105,449,751 (GRCm39) K925R probably benign Het
Plekhm1 A G 11: 103,267,791 (GRCm39) S727P possibly damaging Het
Prr36 G T 8: 4,264,901 (GRCm39) probably benign Het
Prrt3 A G 6: 113,471,907 (GRCm39) L755P probably benign Het
Secisbp2 A G 13: 51,808,502 (GRCm39) H89R probably damaging Het
Sgms2 A T 3: 131,135,466 (GRCm39) probably null Het
Slc35d3 T C 10: 19,725,352 (GRCm39) probably null Het
Slu7 T A 11: 43,330,096 (GRCm39) N174K possibly damaging Het
Teddm1a G T 1: 153,768,192 (GRCm39) D219Y probably damaging Het
Tgtp1 C A 11: 48,878,450 (GRCm39) G85V probably damaging Het
Tmem51 T C 4: 141,759,242 (GRCm39) T169A probably benign Het
Tmem69 C T 4: 116,411,964 (GRCm39) probably null Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Ugt1a10 C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Vwa3b T C 1: 37,084,259 (GRCm39) V144A probably damaging Het
Zdhhc21 A G 4: 82,765,891 (GRCm39) C15R possibly damaging Het
Zfp142 T C 1: 74,611,219 (GRCm39) T756A probably benign Het
Zfp804a A T 2: 82,087,265 (GRCm39) T365S probably benign 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
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
R5704:Zfp606 UTSW 7 12,227,456 (GRCm39) missense probably damaging 0.99
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'- CCTGATACACATCTTGAAAGTTGGAG -3'
(R):5'- AGTCGTAACCAAAGACTTTCTCC -3'

Sequencing Primer
(F):5'- CTTGAAAGTTGGAGCTGTAATTCAG -3'
(R):5'- AACCAAAGACTTTCTCCCATTCATTG -3'
Posted On 2015-07-06