Incidental Mutation 'IGL01353:Zkscan4'
ID75449
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: 0.068) question?
Stock #IGL01353
Quality Score
Status
Chromosome13
Chromosomal Location21478907-21485507 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 21484348 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 323 (L323P)
Ref Sequence ENSEMBL: ENSMUSP00000153278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062609] [ENSMUST00000076238] [ENSMUST00000225845]
Predicted Effect probably damaging
Transcript: ENSMUST00000062609
AA Change: L352P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054604
Gene: ENSMUSG00000054931
AA Change: L352P

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: L323P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226034
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A T 11: 94,352,108 V1304E possibly damaging Het
Acr T C 15: 89,569,492 L78P probably damaging Het
Adamts12 T C 15: 11,292,005 probably benign Het
Adgrb2 T C 4: 130,012,300 S872P probably damaging Het
Adhfe1 T A 1: 9,566,863 N413K probably benign Het
Apoh T A 11: 108,397,385 C110S probably damaging Het
Arhgap11a A G 2: 113,833,524 F805L probably damaging Het
BC049730 G T 7: 24,714,237 S226I probably damaging Het
Bin3 C T 14: 70,134,826 L191F possibly damaging Het
Col3a1 A G 1: 45,333,638 probably benign Het
Dapp1 T C 3: 137,961,480 K107R probably benign Het
Dnah5 T C 15: 28,233,272 V259A probably benign Het
Dnah6 T C 6: 73,173,456 M775V probably benign Het
Dnah9 A G 11: 66,080,571 L1597P probably damaging Het
Elfn2 G A 15: 78,672,418 A643V possibly damaging Het
Epha6 T C 16: 60,424,895 T314A probably damaging Het
Fn1 C A 1: 71,586,939 W2237L probably damaging Het
Foxp4 T A 17: 47,888,153 D97V probably damaging Het
Kcnb2 C A 1: 15,710,824 T640K probably benign Het
Miga2 G A 2: 30,371,233 probably null Het
Nacad T A 11: 6,600,530 Q887L possibly damaging Het
Olfr1058 A T 2: 86,386,021 Y132* probably null Het
Olfr165 C T 16: 19,407,583 M145I probably benign Het
Olfr464 T C 11: 87,914,172 I245V probably benign Het
Olfr866 T C 9: 20,027,047 N297S probably damaging Het
Otub2 A T 12: 103,404,322 M288L probably benign Het
Otud4 A G 8: 79,665,021 S432G probably benign Het
Pcca G A 14: 122,582,617 V58I probably damaging Het
Pdpr T A 8: 111,121,278 probably null Het
Pinx1 C A 14: 63,866,115 Q48K probably benign Het
Pkd1l2 G T 8: 117,057,443 S698R probably benign Het
Psg29 A G 7: 17,205,013 R71G possibly damaging Het
Psmd3 T A 11: 98,690,600 V271E probably benign Het
Smarcc1 A G 9: 110,135,666 N97S probably benign Het
Sulf2 C T 2: 166,087,095 G319S probably damaging Het
Tmem67 C A 4: 12,079,895 C132F probably damaging Het
Ttll7 T C 3: 146,961,719 L780P probably damaging Het
Vmn1r223 A G 13: 23,249,256 T7A unknown Het
Vmn1r76 T G 7: 11,930,810 H159P probably damaging Het
Vnn1 G A 10: 23,900,840 C363Y probably damaging Het
Wdr64 T G 1: 175,731,585 L305V probably damaging Het
Zscan10 A T 17: 23,609,600 H295L probably damaging Het
Other mutations in Zkscan4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01358:Zkscan4 APN 13 21484305 missense possibly damaging 0.82
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