Incidental Mutation 'R0371:Zkscan8'
ID 30493
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 038577-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R0371 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 21697391-21715284 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 21710844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 89 (E89K)
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: E89K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040248
Gene: ENSMUSG00000063894
AA Change: E89K

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: E89K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106107
Gene: ENSMUSG00000063894
AA Change: E89K

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: E89K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116058
Gene: ENSMUSG00000063894
AA Change: E89K

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: E89K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.5873 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.6%
  • 20x: 90.6%
Validation Efficiency 99% (67/68)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 G A 16: 4,105,911 (GRCm39) R1068C probably benign Het
Afmid C T 11: 117,725,966 (GRCm39) probably benign Het
Aqr A G 2: 113,988,085 (GRCm39) V159A possibly damaging Het
Atp6v0d2 G C 4: 19,880,033 (GRCm39) T288R possibly damaging Het
Btnl1 T C 17: 34,600,031 (GRCm39) V178A probably damaging Het
Ccdc110 T A 8: 46,395,843 (GRCm39) M578K possibly damaging Het
Ccdc38 G T 10: 93,398,674 (GRCm39) E51* probably null Het
Cep290 T A 10: 100,354,426 (GRCm39) probably benign Het
Cilp2 T C 8: 70,334,256 (GRCm39) E914G probably damaging Het
Col6a2 T C 10: 76,450,307 (GRCm39) N208S probably benign Het
Ctrb1 T A 8: 112,413,783 (GRCm39) I194F probably benign Het
Cyp4a12a C G 4: 115,183,880 (GRCm39) R229G probably damaging Het
Dach1 C T 14: 98,207,339 (GRCm39) V337M probably damaging Het
Dcbld2 A G 16: 58,271,186 (GRCm39) N321S probably benign Het
Enpep C T 3: 129,077,516 (GRCm39) probably null Het
Fat1 T C 8: 45,404,929 (GRCm39) L560P probably damaging Het
Fdxr T C 11: 115,166,915 (GRCm39) H58R possibly damaging Het
Filip1 G T 9: 79,767,373 (GRCm39) P147T probably damaging Het
Fras1 G A 5: 96,703,190 (GRCm39) E318K possibly damaging Het
Grk2 T C 19: 4,341,614 (GRCm39) probably null Het
Gvin-ps6 A T 7: 106,021,986 (GRCm39) C339S unknown Het
Havcr1 T C 11: 46,643,416 (GRCm39) I112T possibly damaging Het
Hjurp G A 1: 88,205,090 (GRCm39) probably benign Het
Ildr2 G A 1: 166,131,133 (GRCm39) V330I probably damaging Het
Ino80d T C 1: 63,097,115 (GRCm39) probably benign Het
Iqsec1 A G 6: 90,647,385 (GRCm39) probably benign Het
Irf2bpl C T 12: 86,928,417 (GRCm39) W752* probably null Het
Kdr T A 5: 76,102,494 (GRCm39) H1211L probably benign Het
Klri2 A G 6: 129,709,106 (GRCm39) *249R probably null Het
Ktn1 A T 14: 47,961,460 (GRCm39) K1054* probably null Het
Lactb2 A G 1: 13,720,984 (GRCm39) S83P possibly damaging Het
Lrrc3b A T 14: 15,358,560 (GRCm38) C15* probably null Het
Mrs2 T C 13: 25,177,078 (GRCm39) I430V probably benign Het
Myo3b C T 2: 70,083,304 (GRCm39) probably benign Het
Nbas C T 12: 13,381,096 (GRCm39) T696I probably damaging Het
Nsun6 T C 2: 15,034,898 (GRCm39) D240G probably damaging Het
Nup107 T C 10: 117,599,674 (GRCm39) E615G probably damaging Het
Or2a25 A T 6: 42,888,872 (GRCm39) R138S probably benign Het
Or3a1d T A 11: 74,237,760 (GRCm39) I217F probably damaging Het
Or4k77 A T 2: 111,199,498 (GRCm39) I174L probably benign Het
Or5ac23 A G 16: 59,149,585 (GRCm39) C96R possibly damaging Het
Pabpc1l G A 2: 163,877,192 (GRCm39) V256M probably benign Het
Sf3b2 C T 19: 5,324,852 (GRCm39) D845N probably damaging Het
Sik1 T C 17: 32,067,958 (GRCm39) D409G probably benign Het
Slc22a22 A T 15: 57,113,131 (GRCm39) D369E possibly damaging Het
Smg1 T A 7: 117,767,523 (GRCm39) probably benign Het
Snap29 C A 16: 17,224,067 (GRCm39) D27E probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Sorcs3 A G 19: 48,592,333 (GRCm39) I333V probably benign Het
Spag7 A G 11: 70,555,622 (GRCm39) M105T probably damaging Het
Srgap3 A T 6: 112,748,432 (GRCm39) S407T probably damaging Het
Supt6 T C 11: 78,113,983 (GRCm39) N854S probably benign Het
Syne2 T C 12: 75,980,619 (GRCm39) S1460P probably damaging Het
Taok3 C T 5: 117,344,752 (GRCm39) Q160* probably null Het
Tchhl1 C A 3: 93,376,884 (GRCm39) A27E probably damaging Het
Tet1 T C 10: 62,714,178 (GRCm39) D539G probably damaging Het
Tut1 T C 19: 8,940,137 (GRCm39) F374L probably damaging Het
Unc5c C T 3: 141,533,283 (GRCm39) P770S probably benign Het
Vmn2r101 T A 17: 19,810,394 (GRCm39) N393K probably benign Het
Vmn2r94 T A 17: 18,477,556 (GRCm39) H285L probably benign Het
Wdr62 G A 7: 29,941,583 (GRCm39) S700L possibly damaging Het
Wscd1 A G 11: 71,679,549 (GRCm39) D474G probably damaging Het
Zcchc7 A G 4: 44,762,190 (GRCm39) N106S probably damaging Het
Zfp345 G T 2: 150,313,983 (GRCm39) T518N possibly damaging Het
Zfp648 A T 1: 154,080,413 (GRCm39) S191C possibly 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
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
Predicted Primers PCR Primer
(F):5'- TGGCCCAAACCCTGACTGTTTGTG -3'
(R):5'- AGAAAGCCTTCTTCAGCCCCATCTC -3'

Sequencing Primer
(F):5'- GCTTTCAGGAATTCAGTCACAGC -3'
(R):5'- CTTGTCATTGTCAAGATAGAGGAG -3'
Posted On 2013-04-24