Incidental Mutation 'R6080:Zfp606'
ID 482883
Institutional Source Beutler Lab
Gene Symbol Zfp606
Ensembl Gene ENSMUSG00000030386
Gene Name zinc finger protein 606
Synonyms 2410022M24Rik
MMRRC Submission 044239-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R6080 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 12212220-12230162 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 12228043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 663 (N663K)
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: N721K

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000096421
Gene: ENSMUSG00000030386
AA Change: N721K

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: N663K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 C T 14: 118,906,462 (GRCm39) M44I possibly damaging Het
Anks1b C A 10: 90,802,211 (GRCm39) S1209* probably null Het
Atp9b A G 18: 80,782,023 (GRCm39) V1039A probably benign Het
Bltp3a T C 17: 28,099,271 (GRCm39) S278P probably benign Het
Cep44 T C 8: 56,992,876 (GRCm39) K246R possibly damaging Het
Cfap54 A T 10: 92,881,197 (GRCm39) D330E possibly damaging Het
Dnah10 A T 5: 124,882,961 (GRCm39) M2940L possibly damaging Het
Gm14326 T A 2: 177,578,339 (GRCm39) T68S probably benign Het
Gm4922 A C 10: 18,660,500 (GRCm39) I74S probably damaging Het
Ints14 G A 9: 64,874,044 (GRCm39) V99I probably benign Het
Lrp4 T C 2: 91,332,345 (GRCm39) S1681P probably benign Het
Lrp5 T C 19: 3,678,316 (GRCm39) E513G probably benign Het
Myh14 T A 7: 44,305,035 (GRCm39) N252I probably damaging Het
Naga A G 15: 82,219,048 (GRCm39) V233A probably benign Het
Npc1 C T 18: 12,352,408 (GRCm39) C97Y probably damaging Het
Or4f15 T G 2: 111,814,050 (GRCm39) Y123S probably damaging Het
Or52n4 T C 7: 104,294,517 (GRCm39) I19V probably benign Het
Or56a3b T C 7: 104,771,116 (GRCm39) F151L probably benign Het
Or9i2 C A 19: 13,816,464 (GRCm39) L24F possibly damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Plag1 T C 4: 3,903,815 (GRCm39) T459A probably benign Het
Rnase9 T C 14: 51,276,727 (GRCm39) T84A probably benign Het
Rps6kb2 T A 19: 4,208,671 (GRCm39) I282F probably benign Het
Smg5 A G 3: 88,258,816 (GRCm39) T596A probably benign Het
Ugcg T C 4: 59,218,524 (GRCm39) V256A possibly damaging Het
Vgll4 T C 6: 114,898,299 (GRCm39) I21V probably benign Het
Vipas39 T A 12: 87,288,727 (GRCm39) H426L probably damaging Het
Vmn1r224 A G 17: 20,639,818 (GRCm39) T132A possibly damaging Het
Zc3h18 A G 8: 123,143,283 (GRCm39) probably benign Het
Zfp819 A G 7: 43,266,120 (GRCm39) H201R probably benign Het
Zfp946 T A 17: 22,674,090 (GRCm39) H281Q 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
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
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
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'- CCCTATGAGTGCAATAAATGTGG -3'
(R):5'- TCTGATGTTGAAGTAAGGCCGAATG -3'

Sequencing Primer
(F):5'- GGAAAATCCTTCAGTCAGAGCTGTC -3'
(R):5'- CGAATGACCACTAAAGGCTCTTC -3'
Posted On 2017-07-14