Incidental Mutation 'R5536:Zkscan8'
ID 434839
Institutional Source Beutler Lab
Gene Symbol Zkscan8
Ensembl Gene ENSMUSG00000063894
Gene Name zinc finger with KRAB and SCAN domains 8
Synonyms 2510038J07Rik, Zfp192, LD5-1, D430019P06Rik
MMRRC Submission 043094-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R5536 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 21697391-21715284 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21710838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 91 (I91V)
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: I91V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000040248
Gene: ENSMUSG00000063894
AA Change: I91V

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 possibly damaging
Transcript: ENSMUST00000110481
AA Change: I91V

PolyPhen 2 Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106107
Gene: ENSMUSG00000063894
AA Change: I91V

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: I91V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000116058
Gene: ENSMUSG00000063894
AA Change: I91V

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
SCAN 48 160 1.07e-68 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000224362
AA Change: I91V

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,772,149 (GRCm39) G446V possibly damaging Het
Aadac T G 3: 59,946,984 (GRCm39) N227K probably benign Het
Acap1 C T 11: 69,780,133 (GRCm39) G74R probably benign Het
Adrm1 A G 2: 179,813,981 (GRCm39) probably benign Het
Appl1 G C 14: 26,645,737 (GRCm39) S691* probably null Het
Atp2a2 T C 5: 122,595,245 (GRCm39) D1035G probably benign Het
AW551984 A G 9: 39,504,169 (GRCm39) I599T probably benign Het
Col23a1 C A 11: 51,458,776 (GRCm39) D304E probably damaging Het
Csmd1 T C 8: 16,338,674 (GRCm39) R478G probably damaging Het
Dnah7a T C 1: 53,464,412 (GRCm39) N3660D probably benign Het
Drosha T A 15: 12,929,797 (GRCm39) Y1331N possibly damaging Het
E2f6 T G 12: 16,874,685 (GRCm39) S256A probably benign Het
Evc A G 5: 37,483,927 (GRCm39) probably benign Het
Fsip2 A T 2: 82,817,403 (GRCm39) I4379F probably benign Het
Galnt2 T C 8: 125,050,412 (GRCm39) C91R probably damaging Het
Gm3095 G T 14: 15,170,371 (GRCm39) M73I probably benign Het
Gpr179 T A 11: 97,234,641 (GRCm39) Q480L probably damaging Het
Gucy2g T A 19: 55,226,359 (GRCm39) I186F probably benign Het
Hmcn1 T A 1: 150,631,042 (GRCm39) I919F probably benign Het
Kdm3a A C 6: 71,588,920 (GRCm39) V363G probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lama5 C T 2: 179,831,142 (GRCm39) R1839H probably damaging Het
Lpo T C 11: 87,707,389 (GRCm39) D208G probably damaging Het
Lpp A G 16: 24,663,956 (GRCm39) D411G possibly damaging Het
Marco T C 1: 120,432,464 (GRCm39) S8G possibly damaging Het
Mthfr T C 4: 148,128,940 (GRCm39) F171S probably damaging Het
Nlrx1 A T 9: 44,175,183 (GRCm39) S198T probably damaging Het
Nol10 C A 12: 17,466,138 (GRCm39) S511* probably null Het
Nup153 T C 13: 46,836,485 (GRCm39) T1375A probably benign Het
Obscn A G 11: 58,998,697 (GRCm39) S1367P probably damaging Het
Or4x6 A G 2: 89,949,183 (GRCm39) V253A probably benign Het
Pcdha7 G A 18: 37,108,303 (GRCm39) V443M probably damaging Het
Plekha1 G T 7: 130,511,331 (GRCm39) R305I probably damaging Het
Psmb2 T A 4: 126,578,002 (GRCm39) I60N probably damaging Het
Rad17 C A 13: 100,767,612 (GRCm39) G330C probably damaging Het
Slc5a6 A G 5: 31,200,446 (GRCm39) S80P probably damaging Het
Srgap2 T A 1: 131,228,128 (GRCm39) probably null Het
Taf8 C A 17: 47,805,407 (GRCm39) R164L possibly damaging Het
Tmem87a C A 2: 120,227,911 (GRCm39) D79Y probably damaging Het
Tmtc4 G A 14: 123,170,291 (GRCm39) R574W probably benign Het
Tprn G A 2: 25,153,369 (GRCm39) A224T probably benign Het
Usf3 A G 16: 44,037,733 (GRCm39) T738A probably benign Het
Vmn2r54 A C 7: 12,366,343 (GRCm39) V197G probably benign Het
Zbtb40 G T 4: 136,714,642 (GRCm39) P1049Q probably damaging Het
Zfp551 A T 7: 12,149,488 (GRCm39) S640R possibly damaging Het
Zfp932 T A 5: 110,157,713 (GRCm39) C470* probably null Het
Zmat4 T C 8: 24,238,508 (GRCm39) V30A probably damaging Het
Other mutations in Zkscan8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01726:Zkscan8 APN 13 21,704,973 (GRCm39) missense probably benign 0.00
IGL01987:Zkscan8 APN 13 21,710,729 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GCATGCACAGCTACTTACTGG -3'
(R):5'- AGAAAGCCTTCTTCAGCCCC -3'

Sequencing Primer
(F):5'- GGCCGCCCTAGGACATTAATTTG -3'
(R):5'- CTGAAGAGGATCTTGTCATTGTCAAG -3'
Posted On 2016-10-24