Incidental Mutation 'R0206:Zkscan1'
ID 66380
Institutional Source Beutler Lab
Gene Symbol Zkscan1
Ensembl Gene ENSMUSG00000029729
Gene Name zinc finger with KRAB and SCAN domains 1
Synonyms 5930429A01Rik, KOX18, 9130423L19Rik, 9230118B16Rik
MMRRC Submission 038459-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R0206 (G1)
Quality Score 118
Status Not validated
Chromosome 5
Chromosomal Location 138083346-138106084 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 138099448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 391 (C391S)
Ref Sequence ENSEMBL: ENSMUSP00000106588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019660] [ENSMUST00000066617] [ENSMUST00000110962] [ENSMUST00000110963]
AlphaFold Q8BGS3
Predicted Effect probably damaging
Transcript: ENSMUST00000019660
AA Change: C464S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000019660
Gene: ENSMUSG00000029729
AA Change: C464S

DomainStartEndE-ValueType
low complexity region 19 35 N/A INTRINSIC
SCAN 52 162 1.5e-75 SMART
KRAB 225 285 5.7e-8 SMART
low complexity region 300 314 N/A INTRINSIC
low complexity region 316 337 N/A INTRINSIC
ZnF_C2H2 375 397 1.3e-5 SMART
ZnF_C2H2 403 425 7.3e-6 SMART
ZnF_C2H2 431 453 5.6e-6 SMART
ZnF_C2H2 459 481 4e-7 SMART
ZnF_C2H2 487 509 3.8e-6 SMART
ZnF_C2H2 515 537 5.7e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000066617
AA Change: C391S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068480
Gene: ENSMUSG00000029729
AA Change: C391S

DomainStartEndE-ValueType
low complexity region 19 35 N/A INTRINSIC
SCAN 52 162 4.62e-73 SMART
low complexity region 227 241 N/A INTRINSIC
low complexity region 243 264 N/A INTRINSIC
ZnF_C2H2 302 324 2.95e-3 SMART
ZnF_C2H2 330 352 1.69e-3 SMART
ZnF_C2H2 358 380 1.28e-3 SMART
ZnF_C2H2 386 408 9.22e-5 SMART
ZnF_C2H2 414 436 9.08e-4 SMART
ZnF_C2H2 442 464 1.28e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110962
AA Change: C391S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106587
Gene: ENSMUSG00000029729
AA Change: C391S

DomainStartEndE-ValueType
low complexity region 19 35 N/A INTRINSIC
SCAN 52 162 4.62e-73 SMART
low complexity region 227 241 N/A INTRINSIC
low complexity region 243 264 N/A INTRINSIC
ZnF_C2H2 302 324 2.95e-3 SMART
ZnF_C2H2 330 352 1.69e-3 SMART
ZnF_C2H2 358 380 1.28e-3 SMART
ZnF_C2H2 386 408 9.22e-5 SMART
ZnF_C2H2 414 436 9.08e-4 SMART
ZnF_C2H2 442 464 1.28e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110963
AA Change: C391S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106588
Gene: ENSMUSG00000029729
AA Change: C391S

DomainStartEndE-ValueType
low complexity region 19 35 N/A INTRINSIC
SCAN 52 162 4.62e-73 SMART
low complexity region 227 241 N/A INTRINSIC
low complexity region 243 264 N/A INTRINSIC
ZnF_C2H2 302 324 2.95e-3 SMART
ZnF_C2H2 330 352 1.69e-3 SMART
ZnF_C2H2 358 380 1.28e-3 SMART
ZnF_C2H2 386 408 9.22e-5 SMART
ZnF_C2H2 414 436 9.08e-4 SMART
ZnF_C2H2 442 464 1.28e-3 SMART
Meta Mutation Damage Score 0.7979 question?
Coding Region Coverage
  • 1x: 95.8%
  • 3x: 87.0%
  • 10x: 38.5%
  • 20x: 5.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Kruppel C2H2-type zinc-finger family of proteins. This encoded protein may function as a transcription factor that regulates the expression of GABA type-A receptors in the brain. Transcripts from this gene have been shown to form stable and abundant circular RNAs. Elevated expression of this gene has been observed in gastric cancer and the encoded protein may stimulate migration and invasion of human gastric cancer cells. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik G A 17: 48,470,486 (GRCm39) T165I probably benign Het
Adam26a A C 8: 44,023,455 (GRCm39) F12V possibly damaging Het
Aldh1l1 T C 6: 90,546,848 (GRCm39) F384L possibly damaging Het
Cit A T 5: 116,132,089 (GRCm39) N1782Y possibly damaging Het
Cmya5 A G 13: 93,232,065 (GRCm39) S1008P probably damaging Het
Dnah11 A C 12: 118,007,509 (GRCm39) N2156K probably damaging Het
Gm20441 A G 10: 75,608,719 (GRCm39) M1T probably null Het
Inhca A G 9: 103,159,861 (GRCm39) C5R probably damaging Het
Inpp5k T C 11: 75,521,969 (GRCm39) I15T probably benign Het
Loxhd1 T A 18: 77,492,562 (GRCm39) F1334L possibly damaging Het
Me3 A T 7: 89,498,868 (GRCm39) T483S probably benign Het
Med1 A G 11: 98,046,515 (GRCm39) probably benign Het
Mxra8 T A 4: 155,927,053 (GRCm39) I329N probably damaging Het
Mybphl T C 3: 108,282,731 (GRCm39) V207A probably damaging Het
Myom1 T C 17: 71,344,292 (GRCm39) S266P probably damaging Het
Or1d2 A T 11: 74,255,968 (GRCm39) I158F probably benign Het
Or52b1 A T 7: 104,979,090 (GRCm39) M103K possibly damaging Het
Or5m3 T C 2: 85,838,636 (GRCm39) I172T probably damaging Het
Or6f1 T C 7: 85,970,854 (GRCm39) Y102C probably benign Het
Prex2 T A 1: 11,355,368 (GRCm39) D1556E probably damaging Het
Slc35d1 T C 4: 103,065,351 (GRCm39) T177A probably damaging Het
Vmn2r6 T C 3: 64,447,333 (GRCm39) T578A probably benign Het
Other mutations in Zkscan1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03172:Zkscan1 APN 5 138,092,264 (GRCm39) missense probably benign 0.00
R0078:Zkscan1 UTSW 5 138,091,363 (GRCm39) missense probably damaging 1.00
R0206:Zkscan1 UTSW 5 138,099,448 (GRCm39) missense probably damaging 1.00
R0324:Zkscan1 UTSW 5 138,095,785 (GRCm39) missense probably damaging 1.00
R0503:Zkscan1 UTSW 5 138,091,588 (GRCm39) missense probably damaging 0.99
R0940:Zkscan1 UTSW 5 138,091,432 (GRCm39) missense probably damaging 1.00
R1879:Zkscan1 UTSW 5 138,095,410 (GRCm39) missense probably damaging 1.00
R1926:Zkscan1 UTSW 5 138,099,625 (GRCm39) missense probably benign 0.33
R3749:Zkscan1 UTSW 5 138,099,703 (GRCm39) missense probably damaging 0.99
R5045:Zkscan1 UTSW 5 138,099,182 (GRCm39) missense probably damaging 1.00
R5391:Zkscan1 UTSW 5 138,095,363 (GRCm39) missense probably benign
R6339:Zkscan1 UTSW 5 138,091,567 (GRCm39) missense probably damaging 1.00
R6936:Zkscan1 UTSW 5 138,091,567 (GRCm39) missense probably damaging 1.00
R7178:Zkscan1 UTSW 5 138,099,192 (GRCm39) missense probably damaging 0.99
R9309:Zkscan1 UTSW 5 138,091,666 (GRCm39) missense probably damaging 1.00
Z1177:Zkscan1 UTSW 5 138,099,169 (GRCm39) nonsense probably null
Predicted Primers
Posted On 2013-08-19