Incidental Mutation 'IGL01987:Zkscan8'
ID181939
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zkscan8
Ensembl Gene ENSMUSG00000063894
Gene Namezinc finger with KRAB and SCAN domains 8
SynonymsLD5-1, 2510038J07Rik, D430019P06Rik, Zfp192
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock #IGL01987
Quality Score
Status
Chromosome13
Chromosomal Location21513222-21531120 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 21526559 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Serine at position 127 (L127S)
Ref Sequence ENSEMBL: ENSMUSP00000116058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045228] [ENSMUST00000110481] [ENSMUST00000156674] [ENSMUST00000224362]
Predicted Effect probably damaging
Transcript: ENSMUST00000045228
AA Change: L127S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040248
Gene: ENSMUSG00000063894
AA Change: L127S

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
SCAN 48 160 1.07e-68 SMART
KRAB 230 289 1.64e-10 SMART
ZnF_C2H2 332 354 6.42e-4 SMART
ZnF_C2H2 360 382 3.95e-4 SMART
ZnF_C2H2 388 410 8.47e-4 SMART
ZnF_C2H2 416 438 3.69e-4 SMART
ZnF_C2H2 444 466 8.47e-4 SMART
ZnF_C2H2 472 494 3.44e-4 SMART
ZnF_C2H2 500 522 5.67e-5 SMART
ZnF_C2H2 528 550 3.44e-4 SMART
ZnF_C2H2 556 578 1.84e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110481
AA Change: L127S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106107
Gene: ENSMUSG00000063894
AA Change: L127S

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
SCAN 48 145 3.33e-56 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000156674
AA Change: L127S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116058
Gene: ENSMUSG00000063894
AA Change: L127S

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
SCAN 48 160 1.07e-68 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000224362
AA Change: L127S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932411N23Rik C T X: 126,814,475 E336K possibly damaging Het
Abca17 A G 17: 24,346,228 F77L probably benign Het
Abca8a A G 11: 110,074,155 F439L possibly damaging Het
Abcb5 A T 12: 118,927,358 V468D probably damaging Het
Adgrb3 A T 1: 25,101,431 probably null Het
Ankrd28 T C 14: 31,778,974 D50G probably damaging Het
Cacna1b A T 2: 24,697,567 probably null Het
Capn9 A G 8: 124,576,226 S28G probably benign Het
Cdk5rap2 A G 4: 70,302,082 probably null Het
E2f5 T C 3: 14,587,303 probably benign Het
Fam135b A G 15: 71,462,115 Y1077H probably benign Het
Fap A G 2: 62,528,676 Y428H probably damaging Het
Fasn A G 11: 120,818,073 S595P probably damaging Het
Flnb T C 14: 7,922,748 probably null Het
Fzd3 A T 14: 65,239,898 V69E probably damaging Het
Gcdh A T 8: 84,893,481 probably benign Het
Gm996 T C 2: 25,577,958 E647G possibly damaging Het
Ido1 A G 8: 24,593,143 Y89H probably benign Het
Itga2 G A 13: 114,847,946 Q1010* probably null Het
Man1a2 T C 3: 100,644,557 Y280C probably damaging Het
Mgat4d T C 8: 83,368,102 I256T probably damaging Het
Mmrn1 A G 6: 60,944,573 K5E probably benign Het
Ncapd2 A G 6: 125,185,841 probably benign Het
Olfr520 A T 7: 99,735,271 I43F probably damaging Het
Olfr830 A T 9: 18,875,707 I127L probably benign Het
Pcnx3 T C 19: 5,677,479 D644G probably damaging Het
Pole T C 5: 110,337,232 V2280A probably benign Het
Ptprf T A 4: 118,277,370 M24L probably benign Het
Sbno1 T C 5: 124,404,219 N337S probably damaging Het
Serpinc1 T A 1: 160,993,407 F141L probably damaging Het
Shroom3 C A 5: 92,942,189 R933S probably damaging Het
Slc24a2 G A 4: 87,227,796 P7L probably benign Het
Slc25a32 G A 15: 39,097,607 T227I probably damaging Het
Slc7a1 A G 5: 148,337,192 F396L possibly damaging Het
Smok2a G A 17: 13,226,490 R318H probably benign Het
Sntg2 A G 12: 30,312,570 V59A probably damaging Het
Sspo A G 6: 48,477,624 probably null Het
Tnfrsf1a G A 6: 125,356,864 V27I probably damaging Het
Tnpo3 T C 6: 29,560,201 T648A probably benign Het
Tpbg A G 9: 85,845,199 Y407C probably damaging Het
Wbp2nl A T 15: 82,308,561 M149L probably benign Het
Yif1a T A 19: 5,091,597 M181K probably benign Het
Other mutations in Zkscan8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01726:Zkscan8 APN 13 21520803 missense probably benign 0.00
R0129:Zkscan8 UTSW 13 21522271 missense probably benign 0.35
R0371:Zkscan8 UTSW 13 21526674 missense probably damaging 1.00
R0682:Zkscan8 UTSW 13 21526760 missense probably damaging 1.00
R1635:Zkscan8 UTSW 13 21526595 missense possibly damaging 0.84
R1688:Zkscan8 UTSW 13 21520154 missense possibly damaging 0.94
R1908:Zkscan8 UTSW 13 21525155 missense probably damaging 0.96
R1912:Zkscan8 UTSW 13 21520757 nonsense probably null
R2117:Zkscan8 UTSW 13 21520318 missense probably damaging 1.00
R2155:Zkscan8 UTSW 13 21520589 nonsense probably null
R2214:Zkscan8 UTSW 13 21520912 missense probably benign 0.43
R2274:Zkscan8 UTSW 13 21521796 missense probably benign 0.02
R3624:Zkscan8 UTSW 13 21520776 missense probably damaging 1.00
R5528:Zkscan8 UTSW 13 21520725 missense probably damaging 1.00
R5536:Zkscan8 UTSW 13 21526668 missense probably damaging 1.00
R6492:Zkscan8 UTSW 13 21525227 missense probably benign 0.25
R6533:Zkscan8 UTSW 13 21520578 missense probably damaging 1.00
R7131:Zkscan8 UTSW 13 21525273 missense probably damaging 1.00
R7837:Zkscan8 UTSW 13 21520428 missense possibly damaging 0.96
R7877:Zkscan8 UTSW 13 21520410 missense possibly damaging 0.90
R7920:Zkscan8 UTSW 13 21520428 missense possibly damaging 0.96
R7960:Zkscan8 UTSW 13 21520410 missense possibly damaging 0.90
Posted On2014-05-07