Incidental Mutation 'IGL01784:Zkscan6'
ID 154254
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zkscan6
Ensembl Gene ENSMUSG00000018347
Gene Name zinc finger with KRAB and SCAN domains 6
Synonyms D11Ertd714e, Zfp535, 1700128E15Rik, KOX11
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # IGL01784
Quality Score
Status
Chromosome 11
Chromosomal Location 65698001-65720065 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65705547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 86 (L86Q)
Ref Sequence ENSEMBL: ENSMUSP00000071406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018491] [ENSMUST00000071465]
AlphaFold Q810A1
Predicted Effect probably damaging
Transcript: ENSMUST00000018491
AA Change: L86Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018491
Gene: ENSMUSG00000018347
AA Change: L86Q

DomainStartEndE-ValueType
SCAN 37 149 2.75e-57 SMART
KRAB 223 280 4.18e-3 SMART
ZnF_C2H2 415 437 1.08e-1 SMART
ZnF_C2H2 443 465 4.72e-2 SMART
ZnF_C2H2 471 493 1.67e-2 SMART
ZnF_C2H2 499 521 4.94e-5 SMART
ZnF_C2H2 527 549 1.72e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000071465
AA Change: L86Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071406
Gene: ENSMUSG00000018347
AA Change: L86Q

DomainStartEndE-ValueType
SCAN 37 149 2.75e-57 SMART
KRAB 223 280 4.18e-3 SMART
ZnF_C2H2 415 437 1.08e-1 SMART
ZnF_C2H2 443 465 4.72e-2 SMART
ZnF_C2H2 471 493 1.67e-2 SMART
ZnF_C2H2 499 521 4.94e-5 SMART
ZnF_C2H2 527 549 1.72e-4 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C T 11: 58,771,445 (GRCm39) P309L possibly damaging Het
Abca4 A T 3: 121,932,154 (GRCm39) K269N probably benign Het
Abcb5 T C 12: 118,854,399 (GRCm39) T839A probably benign Het
Adcy7 A G 8: 89,040,751 (GRCm39) D30G probably damaging Het
Aldh3b1 A G 19: 3,971,217 (GRCm39) I149T probably benign Het
Ap3b1 A G 13: 94,630,247 (GRCm39) D199G probably damaging Het
Cplx3 T C 9: 57,527,847 (GRCm39) Y36C probably damaging Het
Ddo A G 10: 40,507,784 (GRCm39) probably benign Het
Ensa T A 3: 95,535,844 (GRCm39) probably benign Het
Etnppl A G 3: 130,425,427 (GRCm39) I405V possibly damaging Het
Fam171b T A 2: 83,710,031 (GRCm39) L568M possibly damaging Het
Fmn2 A G 1: 174,329,994 (GRCm39) D128G unknown Het
Fra10ac1 T A 19: 38,208,125 (GRCm39) H43L probably benign Het
Gm7589 T C 9: 59,053,310 (GRCm39) noncoding transcript Het
Gsx1 A G 5: 147,126,939 (GRCm39) D254G probably benign Het
Hoxb6 A G 11: 96,191,639 (GRCm39) E187G probably damaging Het
Kmt2c A T 5: 25,518,524 (GRCm39) I2385N probably damaging Het
Mc3r T A 2: 172,091,290 (GRCm39) C171S probably benign Het
Mccc1 T G 3: 36,030,897 (GRCm39) N390H probably damaging Het
Mphosph9 T C 5: 124,403,373 (GRCm39) probably benign Het
Nfic T C 10: 81,241,982 (GRCm39) D364G possibly damaging Het
Niban1 T A 1: 151,525,116 (GRCm39) Y174N probably damaging Het
Npy A G 6: 49,806,314 (GRCm39) probably benign Het
Or6c8 C T 10: 128,915,224 (GRCm39) V203M probably benign Het
Osbpl3 A G 6: 50,321,902 (GRCm39) S75P probably damaging Het
Plekhg4 G T 8: 106,105,589 (GRCm39) A685S probably damaging Het
Pramel51 A G 12: 88,143,085 (GRCm39) Y178H probably benign Het
Prss53 T C 7: 127,485,724 (GRCm39) T539A probably benign Het
Rnf43 T A 11: 87,622,632 (GRCm39) S537T possibly damaging Het
Rpgrip1l G A 8: 91,997,089 (GRCm39) T597I possibly damaging Het
Rtn4 C A 11: 29,657,291 (GRCm39) Q482K probably damaging Het
Sema3g T C 14: 30,944,924 (GRCm39) I349T probably damaging Het
Sh3gl1 A C 17: 56,326,325 (GRCm39) S108A possibly damaging Het
Tmc7 A T 7: 118,146,538 (GRCm39) probably null Het
Tmem131 G A 1: 36,854,564 (GRCm39) T131I probably damaging Het
Vac14 T C 8: 111,397,800 (GRCm39) L505P probably benign Het
Wasf2 A G 4: 132,919,439 (GRCm39) Q231R unknown Het
Wnt7a A G 6: 91,342,839 (GRCm39) C348R probably damaging Het
Other mutations in Zkscan6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Zkscan6 APN 11 65,719,287 (GRCm39) missense possibly damaging 0.96
IGL00941:Zkscan6 APN 11 65,705,573 (GRCm39) missense probably damaging 1.00
IGL02423:Zkscan6 APN 11 65,719,120 (GRCm39) missense probably benign 0.00
IGL03001:Zkscan6 APN 11 65,705,495 (GRCm39) missense probably damaging 1.00
R0105:Zkscan6 UTSW 11 65,712,811 (GRCm39) missense probably damaging 1.00
R0105:Zkscan6 UTSW 11 65,712,811 (GRCm39) missense probably damaging 1.00
R0112:Zkscan6 UTSW 11 65,705,689 (GRCm39) splice site probably benign
R0542:Zkscan6 UTSW 11 65,719,525 (GRCm39) missense possibly damaging 0.92
R1636:Zkscan6 UTSW 11 65,705,256 (GRCm39) start gained probably benign
R2235:Zkscan6 UTSW 11 65,719,098 (GRCm39) missense probably benign 0.00
R3926:Zkscan6 UTSW 11 65,719,051 (GRCm39) missense probably benign
R6083:Zkscan6 UTSW 11 65,706,757 (GRCm39) missense probably damaging 1.00
R6277:Zkscan6 UTSW 11 65,718,983 (GRCm39) missense probably benign 0.00
R6558:Zkscan6 UTSW 11 65,719,051 (GRCm39) missense probably benign
R6733:Zkscan6 UTSW 11 65,719,461 (GRCm39) missense probably damaging 0.99
R7301:Zkscan6 UTSW 11 65,719,051 (GRCm39) missense probably benign
R7432:Zkscan6 UTSW 11 65,705,189 (GRCm39) critical splice acceptor site probably null
R7466:Zkscan6 UTSW 11 65,719,357 (GRCm39) missense probably damaging 0.98
R9511:Zkscan6 UTSW 11 65,712,817 (GRCm39) missense probably damaging 1.00
R9513:Zkscan6 UTSW 11 65,712,795 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04