Incidental Mutation 'IGL00594:Zkscan7'
ID6128
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zkscan7
Ensembl Gene ENSMUSG00000063488
Gene Namezinc finger with KRAB and SCAN domains 7
SynonymsZfp167
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00594
Quality Score
Status
Chromosome9
Chromosomal Location122885685-122898618 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 122895594 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 543 (Y543H)
Ref Sequence ENSEMBL: ENSMUSP00000071695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063980] [ENSMUST00000215872]
Predicted Effect possibly damaging
Transcript: ENSMUST00000063980
AA Change: Y543H

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000071695
Gene: ENSMUSG00000063488
AA Change: Y543H

DomainStartEndE-ValueType
SCAN 45 156 1.18e-65 SMART
ZnF_C2H2 350 372 5.59e-4 SMART
ZnF_C2H2 378 400 3.69e-4 SMART
ZnF_C2H2 434 456 8.4e1 SMART
ZnF_C2H2 487 509 4.24e-4 SMART
ZnF_C2H2 515 537 8.34e-3 SMART
ZnF_C2H2 543 565 7.37e-4 SMART
ZnF_C2H2 571 593 1.92e-2 SMART
ZnF_C2H2 599 621 1.13e-4 SMART
ZnF_C2H2 627 649 2.24e-3 SMART
ZnF_C2H2 655 677 4.17e-3 SMART
ZnF_C2H2 683 705 1.04e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180486
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180877
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214426
Predicted Effect probably benign
Transcript: ENSMUST00000215872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216429
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216924
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 193,174,801 T154A probably benign Het
Acox1 A G 11: 116,174,505 probably benign Het
Adgrg2 G A X: 160,485,777 V677I probably benign Het
Aifm1 T C X: 48,482,099 T386A probably benign Het
Aspm T C 1: 139,487,422 probably benign Het
Fgfr2 A G 7: 130,228,723 V175A probably damaging Het
Gm14781 C T X: 91,635,485 Q348* probably null Het
Gm382 T C X: 127,063,152 Y987H probably benign Het
Golga3 A T 5: 110,204,975 M911L probably benign Het
Hmgxb3 A G 18: 61,157,739 V354A probably benign Het
Ifne T C 4: 88,879,804 N126D probably benign Het
Igkv3-7 T C 6: 70,607,823 V49A possibly damaging Het
Kbtbd8 A T 6: 95,126,513 Y381F probably damaging Het
Klc1 C T 12: 111,776,884 T215M probably damaging Het
Lrp2 A T 2: 69,486,280 V2119E probably benign Het
Lrrc7 A G 3: 158,187,010 V322A probably benign Het
Ms4a14 A G 19: 11,301,619 S1192P possibly damaging Het
Ndufaf6 T C 4: 11,062,127 Y168C probably damaging Het
Plcg2 C T 8: 117,556,071 T97I possibly damaging Het
Rasgrp4 T C 7: 29,148,541 probably benign Het
Rgs22 T C 15: 36,083,631 H515R probably benign Het
Rpn1 G T 6: 88,095,629 R318L probably damaging Het
Shroom2 A T X: 152,613,516 F1359Y probably damaging Het
Tarsl2 T A 7: 65,676,132 probably null Het
Tbc1d12 A G 19: 38,896,043 E346G possibly damaging Het
Tbccd1 A G 16: 22,822,544 F361S possibly damaging Het
Tenm1 G T X: 42,715,036 P837T probably benign Het
Tmem144 A G 3: 79,839,167 V27A probably benign Het
Zfp616 T A 11: 74,082,963 N19K possibly damaging Het
Other mutations in Zkscan7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01650:Zkscan7 APN 9 122894827 missense probably benign
IGL01905:Zkscan7 APN 9 122890761 missense possibly damaging 0.93
IGL02466:Zkscan7 APN 9 122888885 missense probably damaging 0.98
R0310:Zkscan7 UTSW 9 122888893 nonsense probably null
R0355:Zkscan7 UTSW 9 122888807 missense probably damaging 1.00
R0477:Zkscan7 UTSW 9 122890809 splice site probably null
R1276:Zkscan7 UTSW 9 122890723 missense probably damaging 0.98
R1426:Zkscan7 UTSW 9 122895163 missense probably benign
R2055:Zkscan7 UTSW 9 122888937 missense probably damaging 1.00
R2195:Zkscan7 UTSW 9 122895621 missense possibly damaging 0.73
R2354:Zkscan7 UTSW 9 122894827 missense probably benign
R4878:Zkscan7 UTSW 9 122890800 nonsense probably null
R5106:Zkscan7 UTSW 9 122896133 unclassified probably benign
R6266:Zkscan7 UTSW 9 122895234 nonsense probably null
R6299:Zkscan7 UTSW 9 122888717 missense probably damaging 1.00
R6513:Zkscan7 UTSW 9 122896105 missense probably benign 0.00
R6881:Zkscan7 UTSW 9 122888701 missense possibly damaging 0.96
Posted On2012-04-20