Incidental Mutation 'IGL00420:Zkscan6'
ID4581
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zkscan6
Ensembl Gene ENSMUSG00000018347
Gene Namezinc finger with KRAB and SCAN domains 6
Synonyms1700128E15Rik, Zfp535, KOX11, D11Ertd714e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.145) question?
Stock #IGL00420
Quality Score
Status
Chromosome11
Chromosomal Location65807175-65829239 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 65828461 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 436 (T436A)
Ref Sequence ENSEMBL: ENSMUSP00000071406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018491] [ENSMUST00000071465] [ENSMUST00000080665]
Predicted Effect possibly damaging
Transcript: ENSMUST00000018491
AA Change: T436A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000018491
Gene: ENSMUSG00000018347
AA Change: T436A

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 possibly damaging
Transcript: ENSMUST00000071465
AA Change: T436A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000071406
Gene: ENSMUSG00000018347
AA Change: T436A

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 benign
Transcript: ENSMUST00000080665
SMART Domains Protein: ENSMUSP00000079494
Gene: ENSMUSG00000056752

DomainStartEndE-ValueType
Pfam:DHC_N1 209 787 3.6e-164 PFAM
coiled coil region 788 820 N/A INTRINSIC
low complexity region 1228 1240 N/A INTRINSIC
Pfam:DHC_N2 1290 1699 1.4e-134 PFAM
AAA 1863 1999 4.9e-1 SMART
AAA 2141 2341 1.99e0 SMART
AAA 2468 2614 6.75e-1 SMART
Pfam:AAA_8 2786 3053 1.1e-165 PFAM
Pfam:MT 3065 3408 7.2e-208 PFAM
Pfam:AAA_9 3430 3652 3.2e-87 PFAM
Pfam:Dynein_heavy 3786 4482 1e-241 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152386
SMART Domains Protein: ENSMUSP00000116499
Gene: ENSMUSG00000056752

DomainStartEndE-ValueType
Pfam:AAA_7 1 258 3e-155 PFAM
Pfam:AAA_8 336 603 3.9e-166 PFAM
Pfam:MT 615 958 2.3e-208 PFAM
Pfam:AAA_9 980 1202 1.1e-87 PFAM
Pfam:Dynein_heavy 1336 1514 2.4e-52 PFAM
Pfam:Dynein_heavy 1508 1956 8.6e-155 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adtrp A T 13: 41,777,602 S170T probably benign Het
Cep55 C A 19: 38,073,439 Q443K probably damaging Het
Ces1c T C 8: 93,106,673 E388G probably benign Het
Chd9 T C 8: 91,025,392 S1753P possibly damaging Het
Cse1l T A 2: 166,927,804 I343N probably damaging Het
Ctif T G 18: 75,437,176 M551L possibly damaging Het
Cyp2c29 A G 19: 39,321,699 probably benign Het
Filip1 G A 9: 79,817,944 T1131I probably damaging Het
Gm13941 G A 2: 111,091,848 probably benign Het
Klc3 T C 7: 19,396,295 E319G possibly damaging Het
Lonrf1 T C 8: 36,230,077 probably benign Het
Lrba A G 3: 86,359,782 E1593G probably benign Het
Mroh5 G A 15: 73,792,789 probably benign Het
Mthfr T A 4: 148,041,270 M20K probably benign Het
Nsd2 C A 5: 33,883,003 N960K possibly damaging Het
Osgin1 T A 8: 119,445,046 V193E probably damaging Het
Pced1a A T 2: 130,419,178 C420S probably benign Het
Pkd2l1 C T 19: 44,157,636 probably null Het
Plekhg5 C A 4: 152,102,041 probably null Het
Prkg2 A G 5: 99,024,541 V105A probably benign Het
Rab11fip3 A G 17: 26,067,625 I518T probably benign Het
Rapgef5 T A 12: 117,714,182 V150D probably damaging Het
Sema4c A G 1: 36,553,920 probably benign Het
Slc27a2 A G 2: 126,580,917 E354G probably damaging Het
Slc28a3 A T 13: 58,574,300 L257I probably benign Het
Slc2a8 G T 2: 32,973,624 Q469K probably damaging Het
Slc44a1 T C 4: 53,553,550 V519A possibly damaging Het
Slco6d1 A G 1: 98,432,230 probably null Het
Strap T C 6: 137,745,523 S219P probably damaging Het
Tjp1 T C 7: 65,301,219 I1636V probably benign Het
Tle1 G A 4: 72,169,118 R126C possibly damaging Het
Traf3 T A 12: 111,239,067 I94N probably damaging Het
Trps1 G T 15: 50,846,870 T28K probably benign Het
Unc13c T A 9: 73,736,703 T1160S probably damaging Het
Vapb G A 2: 173,778,171 V228M probably benign Het
Wdr3 A T 3: 100,148,108 D506E probably damaging Het
Zfp119a A T 17: 55,865,792 C350* probably null Het
Zfp51 A T 17: 21,463,452 M110L probably benign Het
Zfp687 G A 3: 95,012,416 A15V probably damaging Het
Other mutations in Zkscan6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Zkscan6 APN 11 65814747 missense probably damaging 1.00
IGL01784:Zkscan6 APN 11 65814721 missense probably damaging 1.00
IGL02423:Zkscan6 APN 11 65828294 missense probably benign 0.00
IGL03001:Zkscan6 APN 11 65814669 missense probably damaging 1.00
R0105:Zkscan6 UTSW 11 65821985 missense probably damaging 1.00
R0105:Zkscan6 UTSW 11 65821985 missense probably damaging 1.00
R0112:Zkscan6 UTSW 11 65814863 splice site probably benign
R0542:Zkscan6 UTSW 11 65828699 missense possibly damaging 0.92
R1636:Zkscan6 UTSW 11 65814430 start gained probably benign
R2235:Zkscan6 UTSW 11 65828272 missense probably benign 0.00
R3926:Zkscan6 UTSW 11 65828225 missense probably benign
R6083:Zkscan6 UTSW 11 65815931 missense probably damaging 1.00
R6277:Zkscan6 UTSW 11 65828157 missense probably benign 0.00
R6558:Zkscan6 UTSW 11 65828225 missense probably benign
R6733:Zkscan6 UTSW 11 65828635 missense probably damaging 0.99
R7301:Zkscan6 UTSW 11 65828225 missense probably benign
R7432:Zkscan6 UTSW 11 65814363 critical splice acceptor site probably null
R7466:Zkscan6 UTSW 11 65828531 missense probably damaging 0.98
Posted On2012-04-20