Incidental Mutation 'R7920:Zkscan8'
ID611198
Institutional Source Beutler Lab
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: 0.096) question?
Stock #R7920 (G1)
Quality Score225.009
Status Not validated
Chromosome13
Chromosomal Location21513222-21531120 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 21520428 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 447 (N447I)
Ref Sequence ENSEMBL: ENSMUSP00000040248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045228] [ENSMUST00000156674] [ENSMUST00000224362]
Predicted Effect possibly damaging
Transcript: ENSMUST00000045228
AA Change: N447I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000040248
Gene: ENSMUSG00000063894
AA Change: N447I

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 benign
Transcript: ENSMUST00000156674
SMART Domains Protein: ENSMUSP00000116058
Gene: ENSMUSG00000063894

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: N375I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933417A18Rik A T 13: 34,944,376 Q192L possibly damaging Het
Aadacl4 T C 4: 144,617,977 S108P probably damaging Het
Acox3 A G 5: 35,611,486 probably null Het
Adam22 T A 5: 8,149,284 probably null Het
Adgrb3 T C 1: 25,128,834 Y1007C probably damaging Het
Agps A T 2: 75,854,107 probably null Het
Akap2 A G 4: 57,855,262 D197G probably damaging Het
Anapc4 T A 5: 52,859,208 probably null Het
Aoc1 T A 6: 48,905,650 Y153* probably null Het
Armc1 A T 3: 19,144,469 I109N probably benign Het
Bcl2 A C 1: 106,543,356 F207V possibly damaging Het
Btd C A 14: 31,666,827 S168R possibly damaging Het
Cage1 A T 13: 38,022,405 M488K not run Het
Cenpj T C 14: 56,558,728 N224S probably benign Het
Cln6 T C 9: 62,849,048 V81A Het
Crispld1 T A 1: 17,728,730 V25E probably benign Het
Dnah12 A G 14: 26,796,219 T1808A probably benign Het
Dnm3 C T 1: 161,992,050 R851H possibly damaging Het
Dtx3l T A 16: 35,931,526 N675I probably damaging Het
Dusp28 A G 1: 92,907,683 E163G probably benign Het
Ecd A T 14: 20,333,332 F346L probably damaging Het
F5 G A 1: 164,186,794 V545M probably damaging Het
Gm19410 A T 8: 35,808,980 Y1597F possibly damaging Het
Gm4559 C T 7: 142,273,816 R183K unknown Het
Gria2 A T 3: 80,710,788 N313K probably benign Het
Igkv13-84 C T 6: 68,939,809 S30F possibly damaging Het
Kcnh6 C A 11: 106,033,810 H867N probably benign Het
Krt82 T C 15: 101,548,357 Q196R possibly damaging Het
Mbd4 T C 6: 115,849,539 N164D probably benign Het
Mrgpra1 A T 7: 47,335,328 M201K possibly damaging Het
Msh6 G A 17: 87,984,666 G283E probably damaging Het
Msr1 C T 8: 39,581,832 C426Y probably damaging Het
Muc5ac A G 7: 141,815,963 H3149R possibly damaging Het
Nr1i2 T C 16: 38,253,784 M156V probably benign Het
Ogdhl T C 14: 32,346,458 V884A possibly damaging Het
Olfr1189 A T 2: 88,592,379 I192F possibly damaging Het
Olfr532 T C 7: 140,419,321 I151V probably benign Het
Olfr610 A T 7: 103,506,845 C34S possibly damaging Het
Olfr725 T A 14: 50,034,576 T276S probably damaging Het
Pcnx4 C A 12: 72,556,118 L385M probably damaging Het
Plscr4 T A 9: 92,484,923 C197S probably damaging Het
Rin3 A G 12: 102,368,765 T312A unknown Het
Rsf1 GGCGGCGGC GGCGGCGGCTGCGGCGGC 7: 97,579,918 probably benign Het
Sept7 T A 9: 25,288,235 N143K possibly damaging Het
Sgk2 A G 2: 163,003,296 K208E probably damaging Het
Slc4a5 A T 6: 83,261,557 T236S probably benign Het
Sptbn1 A G 11: 30,138,832 L810P probably damaging Het
Stard9 A G 2: 120,703,665 S3468G probably benign Het
Tmem2 T A 19: 21,798,021 D209E probably benign Het
Tmem246 A T 4: 49,586,262 M302K probably damaging Het
Tssk2 T C 16: 17,898,751 V6A possibly damaging Het
Ttll4 A T 1: 74,681,757 probably null Het
Ubr4 C T 4: 139,393,151 R296* probably null Het
Wscd2 G T 5: 113,572,333 C306F probably damaging Het
Zbtb43 C T 2: 33,453,969 G378R probably damaging Het
Zdhhc12 A T 2: 30,091,697 V165E probably damaging Het
Zfp59 GAAA GAAAAA 7: 27,854,917 probably null Het
Zfp943 A T 17: 21,992,365 Y144F probably benign Het
Other mutations in Zkscan8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01726:Zkscan8 APN 13 21520803 missense probably benign 0.00
IGL01987:Zkscan8 APN 13 21526559 missense probably damaging 1.00
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
R7960:Zkscan8 UTSW 13 21520410 missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- AAGCTTCTCCTAAACTCCTGTG -3'
(R):5'- GGAATGTGGTAAGGCCTTCAG -3'

Sequencing Primer
(F):5'- GTGCTGAATGAGACCAGTATTCCC -3'
(R):5'- TTCAGTCAGAACACAGGCTTG -3'
Posted On2019-12-27