Incidental Mutation 'IGL01358:Zkscan4'
ID75620
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zkscan4
Ensembl Gene ENSMUSG00000054931
Gene Namezinc finger with KRAB and SCAN domains 4
SynonymsGm11272
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL01358
Quality Score
Status
Chromosome13
Chromosomal Location21478907-21485507 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 21484305 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 309 (E309K)
Ref Sequence ENSEMBL: ENSMUSP00000153278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062609] [ENSMUST00000076238] [ENSMUST00000225845]
Predicted Effect probably benign
Transcript: ENSMUST00000062609
AA Change: E338K

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000054604
Gene: ENSMUSG00000054931
AA Change: E338K

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 possibly damaging
Transcript: ENSMUST00000225845
AA Change: E309K

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226034
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 A G 7: 27,636,154 Y316C probably damaging Het
Atp6v0a4 T G 6: 38,074,210 D411A probably damaging Het
Calr3 A T 8: 72,427,213 Y178* probably null Het
Ces1e A G 8: 93,214,150 L298P probably damaging Het
Clk3 T C 9: 57,754,592 T391A probably damaging Het
Cr2 A G 1: 195,159,820 I275T probably damaging Het
Cul9 G T 17: 46,538,314 P635H probably damaging Het
Dhx33 G A 11: 70,993,861 Q40* probably null Het
Dscam A T 16: 96,610,343 S1778T possibly damaging Het
Dsg2 T A 18: 20,601,793 Y943N probably damaging Het
Eml1 A T 12: 108,514,468 T398S probably benign Het
Epha3 G A 16: 63,595,746 probably benign Het
Gm14548 A G 7: 3,895,687 V254A probably benign Het
Hacl1 A T 14: 31,626,417 M200K probably benign Het
Ighmbp2 T A 19: 3,268,817 S420C probably damaging Het
Kcnt1 T A 2: 25,916,005 I1200N probably damaging Het
Kctd21 T A 7: 97,347,374 L18Q probably damaging Het
Krt78 A C 15: 101,946,263 S1038A probably benign Het
Lrp2 C A 2: 69,552,470 probably benign Het
Lrrc41 T A 4: 116,075,587 V60D probably benign Het
Mafk T C 5: 139,800,493 S149P probably damaging Het
Mest T A 6: 30,746,331 probably benign Het
Nlrp1b G A 11: 71,181,856 T387I possibly damaging Het
Notch3 C T 17: 32,144,747 D1140N probably damaging Het
Nxph2 A G 2: 23,400,074 N146S probably damaging Het
Olfm1 T C 2: 28,229,495 C381R probably damaging Het
Olfr504 T A 7: 108,565,202 R198W probably benign Het
Olfr510 C T 7: 108,667,662 P82L possibly damaging Het
Parp11 C T 6: 127,471,563 Q48* probably null Het
Pgc T C 17: 47,730,666 V175A probably benign Het
Plxna1 G T 6: 89,322,750 T1679N probably damaging Het
Pnpt1 G T 11: 29,138,425 L229F possibly damaging Het
Ppp1r12b A T 1: 134,892,159 L282Q probably damaging Het
Rag2 C A 2: 101,630,020 A225D possibly damaging Het
Ralgps1 T C 2: 33,143,049 D456G possibly damaging Het
Rasgrf2 T A 13: 91,982,630 T170S probably benign Het
Rel C T 11: 23,761,155 S4N probably benign Het
Rims3 C T 4: 120,891,503 S307F possibly damaging Het
Rnf123 A G 9: 108,069,182 L290P probably damaging Het
Rtn4r G T 16: 18,151,396 M229I possibly damaging Het
Rusc2 G A 4: 43,426,116 R1407Q probably damaging Het
Sec23ip A T 7: 128,752,797 Q259L possibly damaging Het
Slc24a4 G A 12: 102,223,635 C204Y probably benign Het
Slc27a3 T C 3: 90,386,552 T542A probably damaging Het
Smarcal1 A T 1: 72,616,565 I668F possibly damaging Het
Snap91 C A 9: 86,806,560 V311F probably damaging Het
Sp8 T A 12: 118,848,970 S187T probably damaging Het
Tcerg1 T C 18: 42,524,277 S275P unknown Het
Vwce T A 19: 10,664,409 V833D possibly damaging Het
Zbtb8b A G 4: 129,433,259 S38P probably damaging Het
Zfp598 T C 17: 24,681,424 probably benign Het
Other mutations in Zkscan4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01353:Zkscan4 APN 13 21484348 missense probably damaging 1.00
R0107:Zkscan4 UTSW 13 21484581 missense possibly damaging 0.62
R0637:Zkscan4 UTSW 13 21481307 missense probably damaging 0.99
R0791:Zkscan4 UTSW 13 21483911 missense probably benign 0.04
R1252:Zkscan4 UTSW 13 21483874 missense probably benign 0.02
R1870:Zkscan4 UTSW 13 21483934 missense probably benign 0.00
R4771:Zkscan4 UTSW 13 21479246 nonsense probably null
R5080:Zkscan4 UTSW 13 21481328 missense probably benign 0.02
R5987:Zkscan4 UTSW 13 21484453 missense probably damaging 1.00
R6238:Zkscan4 UTSW 13 21484587 missense possibly damaging 0.53
R6542:Zkscan4 UTSW 13 21484338 missense probably damaging 1.00
R6954:Zkscan4 UTSW 13 21484365 missense probably damaging 1.00
R7227:Zkscan4 UTSW 13 21484243 missense probably benign 0.00
R7418:Zkscan4 UTSW 13 21484629 missense probably damaging 1.00
R7462:Zkscan4 UTSW 13 21483874 missense probably benign 0.02
R7549:Zkscan4 UTSW 13 21484249 missense probably damaging 1.00
R7750:Zkscan4 UTSW 13 21479355 missense probably damaging 1.00
R8051:Zkscan4 UTSW 13 21484653 missense not run
RF049:Zkscan4 UTSW 13 21484711 frame shift probably null
T0722:Zkscan4 UTSW 13 21479200 small deletion probably benign
T0975:Zkscan4 UTSW 13 21479200 small deletion probably benign
Z1088:Zkscan4 UTSW 13 21483897 missense probably damaging 1.00
Posted On2013-10-07