Incidental Mutation 'IGL01987:Zkscan8'
ID 181939
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zkscan8
Ensembl Gene ENSMUSG00000063894
Gene Name zinc finger with KRAB and SCAN domains 8
Synonyms 2510038J07Rik, Zfp192, LD5-1, D430019P06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL01987
Quality Score
Status
Chromosome 13
Chromosomal Location 21697391-21715284 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21710729 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BSL0
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
Abca17 A G 17: 24,565,202 (GRCm39) F77L probably benign Het
Abca8a A G 11: 109,964,981 (GRCm39) F439L possibly damaging Het
Abcb5 A T 12: 118,891,093 (GRCm39) V468D probably damaging Het
Adgrb3 A T 1: 25,140,512 (GRCm39) probably null Het
Ajm1 T C 2: 25,467,970 (GRCm39) E647G possibly damaging Het
Ankrd28 T C 14: 31,500,931 (GRCm39) D50G probably damaging Het
Cacna1b A T 2: 24,587,579 (GRCm39) probably null Het
Capn9 A G 8: 125,302,965 (GRCm39) S28G probably benign Het
Cdk5rap2 A G 4: 70,220,319 (GRCm39) probably null Het
Dmtf1l C T X: 125,722,098 (GRCm39) E336K possibly damaging Het
E2f5 T C 3: 14,652,363 (GRCm39) probably benign Het
Fam135b A G 15: 71,333,964 (GRCm39) Y1077H probably benign Het
Fap A G 2: 62,359,020 (GRCm39) Y428H probably damaging Het
Fasn A G 11: 120,708,899 (GRCm39) S595P probably damaging Het
Flnb T C 14: 7,922,748 (GRCm38) probably null Het
Fzd3 A T 14: 65,477,347 (GRCm39) V69E probably damaging Het
Gcdh A T 8: 85,620,110 (GRCm39) probably benign Het
Ido1 A G 8: 25,083,159 (GRCm39) Y89H probably benign Het
Itga2 G A 13: 114,984,482 (GRCm39) Q1010* probably null Het
Man1a2 T C 3: 100,551,873 (GRCm39) Y280C probably damaging Het
Mgat4d T C 8: 84,094,731 (GRCm39) I256T probably damaging Het
Mmrn1 A G 6: 60,921,557 (GRCm39) K5E probably benign Het
Ncapd2 A G 6: 125,162,804 (GRCm39) probably benign Het
Or2at4 A T 7: 99,384,478 (GRCm39) I43F probably damaging Het
Or7g18 A T 9: 18,787,003 (GRCm39) I127L probably benign Het
Pcnx3 T C 19: 5,727,507 (GRCm39) D644G probably damaging Het
Pole T C 5: 110,485,098 (GRCm39) V2280A probably benign Het
Ptprf T A 4: 118,134,567 (GRCm39) M24L probably benign Het
Sbno1 T C 5: 124,542,282 (GRCm39) N337S probably damaging Het
Serpinc1 T A 1: 160,820,977 (GRCm39) F141L probably damaging Het
Shroom3 C A 5: 93,090,048 (GRCm39) R933S probably damaging Het
Slc24a2 G A 4: 87,146,033 (GRCm39) P7L probably benign Het
Slc25a32 G A 15: 38,961,002 (GRCm39) T227I probably damaging Het
Slc7a1 A G 5: 148,274,002 (GRCm39) F396L possibly damaging Het
Smok2a G A 17: 13,445,377 (GRCm39) R318H probably benign Het
Sntg2 A G 12: 30,362,569 (GRCm39) V59A probably damaging Het
Sspo A G 6: 48,454,558 (GRCm39) probably null Het
Tnfrsf1a G A 6: 125,333,827 (GRCm39) V27I probably damaging Het
Tnpo3 T C 6: 29,560,200 (GRCm39) T648A probably benign Het
Tpbg A G 9: 85,727,252 (GRCm39) Y407C probably damaging Het
Wbp2nl A T 15: 82,192,762 (GRCm39) M149L probably benign Het
Yif1a T A 19: 5,141,625 (GRCm39) M181K probably benign Het
Other mutations in Zkscan8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01726:Zkscan8 APN 13 21,704,973 (GRCm39) missense probably benign 0.00
R0129:Zkscan8 UTSW 13 21,706,441 (GRCm39) missense probably benign 0.35
R0371:Zkscan8 UTSW 13 21,710,844 (GRCm39) missense probably damaging 1.00
R0682:Zkscan8 UTSW 13 21,710,930 (GRCm39) missense probably damaging 1.00
R1635:Zkscan8 UTSW 13 21,710,765 (GRCm39) missense possibly damaging 0.84
R1688:Zkscan8 UTSW 13 21,704,324 (GRCm39) missense possibly damaging 0.94
R1908:Zkscan8 UTSW 13 21,709,325 (GRCm39) missense probably damaging 0.96
R1912:Zkscan8 UTSW 13 21,704,927 (GRCm39) nonsense probably null
R2117:Zkscan8 UTSW 13 21,704,488 (GRCm39) missense probably damaging 1.00
R2155:Zkscan8 UTSW 13 21,704,759 (GRCm39) nonsense probably null
R2214:Zkscan8 UTSW 13 21,705,082 (GRCm39) missense probably benign 0.43
R2274:Zkscan8 UTSW 13 21,705,966 (GRCm39) missense probably benign 0.02
R3624:Zkscan8 UTSW 13 21,704,946 (GRCm39) missense probably damaging 1.00
R5528:Zkscan8 UTSW 13 21,704,895 (GRCm39) missense probably damaging 1.00
R5536:Zkscan8 UTSW 13 21,710,838 (GRCm39) missense probably damaging 1.00
R6492:Zkscan8 UTSW 13 21,709,397 (GRCm39) missense probably benign 0.25
R6533:Zkscan8 UTSW 13 21,704,748 (GRCm39) missense probably damaging 1.00
R7131:Zkscan8 UTSW 13 21,709,443 (GRCm39) missense probably damaging 1.00
R7837:Zkscan8 UTSW 13 21,704,598 (GRCm39) missense possibly damaging 0.96
R7877:Zkscan8 UTSW 13 21,704,580 (GRCm39) missense possibly damaging 0.90
R9342:Zkscan8 UTSW 13 21,710,702 (GRCm39) missense probably benign 0.05
R9609:Zkscan8 UTSW 13 21,709,434 (GRCm39) missense possibly damaging 0.68
R9623:Zkscan8 UTSW 13 21,704,763 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07