Incidental Mutation 'R6542:Zkscan4'
ID 520873
Institutional Source Beutler Lab
Gene Symbol Zkscan4
Ensembl Gene ENSMUSG00000054931
Gene Name zinc finger with KRAB and SCAN domains 4
Synonyms
MMRRC Submission 044668-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R6542 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 21663019-21669677 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21668508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 320 (S320G)
Ref Sequence ENSEMBL: ENSMUSP00000153278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062609] [ENSMUST00000076238] [ENSMUST00000225845]
AlphaFold Q5SZT6
Predicted Effect probably damaging
Transcript: ENSMUST00000062609
AA Change: S349G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000054604
Gene: ENSMUSG00000054931
AA Change: S349G

DomainStartEndE-ValueType
SCAN 47 159 9.33e-69 SMART
ZnF_C2H2 253 275 4.11e-2 SMART
ZnF_C2H2 281 303 1.12e-3 SMART
ZnF_C2H2 309 331 6.52e-5 SMART
ZnF_C2H2 337 359 2.57e-3 SMART
ZnF_C2H2 365 387 1.98e-4 SMART
ZnF_C2H2 420 442 1.98e-4 SMART
ZnF_C2H2 448 470 2.09e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000076238
SMART Domains Protein: ENSMUSP00000075589
Gene: ENSMUSG00000059459

DomainStartEndE-ValueType
low complexity region 1 15 N/A INTRINSIC
low complexity region 20 43 N/A INTRINSIC
low complexity region 58 69 N/A INTRINSIC
low complexity region 79 94 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157938
Predicted Effect probably damaging
Transcript: ENSMUST00000225845
AA Change: S320G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226034
Meta Mutation Damage Score 0.2310 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 98% (47/48)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,030,902 (GRCm39) L566Q probably damaging Het
Apbb1ip C T 2: 22,764,972 (GRCm39) T551I probably benign Het
Aqp5 A G 15: 99,492,143 (GRCm39) E247G probably damaging Het
Bdkrb1 T C 12: 105,571,352 (GRCm39) F306S probably damaging Het
Clca3a1 C T 3: 144,465,021 (GRCm39) V71I probably benign Het
Cog4 A G 8: 111,577,994 (GRCm39) D36G probably damaging Het
Ctbp1 A G 5: 33,426,915 (GRCm39) probably benign Het
Dync1li2 C T 8: 105,169,396 (GRCm39) G13D probably benign Het
F5 T C 1: 164,022,037 (GRCm39) V1504A probably benign Het
Fancm T C 12: 65,144,203 (GRCm39) L555P probably damaging Het
Fgfr2 A T 7: 129,802,853 (GRCm39) S152T probably benign Het
Fign A T 2: 63,810,639 (GRCm39) H210Q possibly damaging Het
Hbs1l A G 10: 21,180,516 (GRCm39) N66S probably benign Het
Ighv12-3 A T 12: 114,330,435 (GRCm39) M20K probably benign Het
Isoc2b T C 7: 4,854,454 (GRCm39) K26E probably damaging Het
Katnal1 C T 5: 148,813,016 (GRCm39) A467T probably benign Het
Loxl3 A G 6: 83,025,147 (GRCm39) T292A probably benign Het
Map3k9 A G 12: 81,769,028 (GRCm39) S1007P possibly damaging Het
Mcur1 A T 13: 43,705,134 (GRCm39) V174D probably damaging Het
Metrnl A C 11: 121,593,704 (GRCm39) probably null Het
Midn A G 10: 79,992,418 (GRCm39) D490G probably damaging Het
Mmp10 G A 9: 7,506,513 (GRCm39) A330T probably benign Het
Mto1 T A 9: 78,364,510 (GRCm39) C281S possibly damaging Het
Nek10 A G 14: 14,999,108 (GRCm38) I1036V probably benign Het
Odad1 G T 7: 45,597,814 (GRCm39) A575S probably benign Het
Or13c7c A C 4: 43,835,686 (GRCm39) L268R probably benign Het
Or1ab2 T C 8: 72,863,715 (GRCm39) F102L probably damaging Het
Or2b7 T C 13: 21,739,677 (GRCm39) T172A probably damaging Het
Or8b48 C A 9: 38,450,733 (GRCm39) L181I probably benign Het
Parp4 A C 14: 56,885,339 (GRCm39) I1473L unknown Het
Pcdhb9 A G 18: 37,534,642 (GRCm39) Y212C probably damaging Het
Pilra G T 5: 137,820,237 (GRCm39) probably null Het
Pkhd1 A G 1: 20,655,927 (GRCm39) I202T probably benign Het
Ppfia2 A T 10: 106,671,586 (GRCm39) E432D probably damaging Het
Prom1 T C 5: 44,194,851 (GRCm39) D298G possibly damaging Het
Prr22 T A 17: 57,077,527 (GRCm39) probably null Het
Septin2 T A 1: 93,425,188 (GRCm39) probably null Het
Setdb1 C A 3: 95,247,618 (GRCm39) V426L probably damaging Het
Slc8b1 C T 5: 120,667,582 (GRCm39) A405V probably damaging Het
Srrm1 G A 4: 135,068,237 (GRCm39) R279* probably null Het
Ssh2 C G 11: 77,340,976 (GRCm39) D709E possibly damaging Het
Tmprss9 A G 10: 80,724,389 (GRCm39) D373G probably damaging Het
Trpm3 T C 19: 22,903,477 (GRCm39) L921S probably benign Het
Ubqln3 T C 7: 103,790,824 (GRCm39) N422S probably benign Het
Vmn2r105 C T 17: 20,448,803 (GRCm39) V125I probably benign Het
Vmn2r69 A T 7: 85,060,413 (GRCm39) Y390* probably null Het
Zcwpw1 T C 5: 137,810,282 (GRCm39) F353L probably damaging Het
Zfp462 G A 4: 55,023,433 (GRCm39) C987Y probably damaging Het
Other mutations in Zkscan4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01353:Zkscan4 APN 13 21,668,518 (GRCm39) missense probably damaging 1.00
IGL01358:Zkscan4 APN 13 21,668,475 (GRCm39) missense possibly damaging 0.82
R0107:Zkscan4 UTSW 13 21,668,751 (GRCm39) missense possibly damaging 0.62
R0637:Zkscan4 UTSW 13 21,665,477 (GRCm39) missense probably damaging 0.99
R0791:Zkscan4 UTSW 13 21,668,081 (GRCm39) missense probably benign 0.04
R1252:Zkscan4 UTSW 13 21,668,044 (GRCm39) missense probably benign 0.02
R1870:Zkscan4 UTSW 13 21,668,104 (GRCm39) missense probably benign 0.00
R4771:Zkscan4 UTSW 13 21,663,416 (GRCm39) nonsense probably null
R5080:Zkscan4 UTSW 13 21,665,498 (GRCm39) missense probably benign 0.02
R5987:Zkscan4 UTSW 13 21,668,623 (GRCm39) missense probably damaging 1.00
R6238:Zkscan4 UTSW 13 21,668,757 (GRCm39) missense possibly damaging 0.53
R6954:Zkscan4 UTSW 13 21,668,535 (GRCm39) missense probably damaging 1.00
R7227:Zkscan4 UTSW 13 21,668,413 (GRCm39) missense probably benign 0.00
R7418:Zkscan4 UTSW 13 21,668,799 (GRCm39) missense probably damaging 1.00
R7462:Zkscan4 UTSW 13 21,668,044 (GRCm39) missense probably benign 0.02
R7549:Zkscan4 UTSW 13 21,668,419 (GRCm39) missense probably damaging 1.00
R7750:Zkscan4 UTSW 13 21,663,525 (GRCm39) missense probably damaging 1.00
R8051:Zkscan4 UTSW 13 21,668,823 (GRCm39) missense not run
R8942:Zkscan4 UTSW 13 21,668,680 (GRCm39) missense probably benign 0.00
R9040:Zkscan4 UTSW 13 21,668,229 (GRCm39) missense probably benign
R9297:Zkscan4 UTSW 13 21,668,201 (GRCm39) missense probably benign 0.06
R9304:Zkscan4 UTSW 13 21,665,570 (GRCm39) missense possibly damaging 0.75
RF049:Zkscan4 UTSW 13 21,668,881 (GRCm39) frame shift probably null
T0722:Zkscan4 UTSW 13 21,663,370 (GRCm39) small deletion probably benign
T0975:Zkscan4 UTSW 13 21,663,370 (GRCm39) small deletion probably benign
Z1088:Zkscan4 UTSW 13 21,668,067 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAAGTTACAGACAGCACAG -3'
(R):5'- CAGGAGCTTCAACATCTTCCC -3'

Sequencing Primer
(F):5'- AAGACCTTTATTGGGAGCTCTGCC -3'
(R):5'- AGCTTCAACATCTTCCCCCTGG -3'
Posted On 2018-06-06