Incidental Mutation 'IGL01926:Zscan4d'
ID180287
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zscan4d
Ensembl Gene ENSMUSG00000090714
Gene Namezinc finger and SCAN domain containing 4D
SynonymsEG545913
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.284) question?
Stock #IGL01926
Quality Score
Status
Chromosome7
Chromosomal Location11161374-11166159 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 11164994 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 119 (C119R)
Ref Sequence ENSEMBL: ENSMUSP00000066504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067210] [ENSMUST00000165848]
Predicted Effect probably damaging
Transcript: ENSMUST00000067210
AA Change: C119R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066504
Gene: ENSMUSG00000090714
AA Change: C119R

DomainStartEndE-ValueType
Pfam:SCAN 39 126 2.5e-19 PFAM
low complexity region 181 197 N/A INTRINSIC
ZnF_C2H2 395 417 5.14e-3 SMART
ZnF_C2H2 424 446 7.68e0 SMART
ZnF_C2H2 452 474 4.17e-3 SMART
ZnF_C2H2 480 503 3.83e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165848
AA Change: C119R

PolyPhen 2 Score 0.210 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131258
Gene: ENSMUSG00000110103
AA Change: C119R

DomainStartEndE-ValueType
Pfam:SCAN 43 122 1.3e-17 PFAM
low complexity region 181 197 N/A INTRINSIC
ZnF_C2H2 395 417 5.14e-3 SMART
ZnF_C2H2 424 446 7.68e0 SMART
ZnF_C2H2 452 474 4.17e-3 SMART
ZnF_C2H2 480 503 3.83e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209835
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C T 11: 110,135,329 probably benign Het
Ano1 C T 7: 144,610,875 V671M possibly damaging Het
Atf7ip2 G T 16: 10,241,885 D430Y probably damaging Het
Atp7b A T 8: 22,011,781 D740E probably damaging Het
Bbs1 A C 19: 4,902,863 S191A probably benign Het
Capn5 C T 7: 98,128,472 probably null Het
Cyp2c40 A G 19: 39,802,655 I244T probably benign Het
Dsg1a G T 18: 20,333,584 D504Y possibly damaging Het
Eif3a T C 19: 60,769,961 D793G unknown Het
Exoc4 C A 6: 33,862,142 D704E probably damaging Het
Fmo5 A C 3: 97,637,481 T109P probably damaging Het
Ggt5 A G 10: 75,604,101 I179V probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Irs1 G T 1: 82,289,959 R179S probably damaging Het
Jmy A T 13: 93,459,786 V445E probably damaging Het
Jup C A 11: 100,383,586 V93F probably benign Het
Krt20 T C 11: 99,437,826 Y91C probably damaging Het
Mug2 T A 6: 122,036,104 probably benign Het
Mybpc3 C T 2: 91,135,407 T1188I possibly damaging Het
Myt1 T C 2: 181,821,997 L1032P probably benign Het
Naip6 A T 13: 100,300,196 N606K probably damaging Het
Nfrkb A T 9: 31,414,179 M973L probably benign Het
Olfr1109 C T 2: 87,092,974 C141Y probably damaging Het
Olfr1477 A T 19: 13,502,741 T133S possibly damaging Het
Parp8 T C 13: 116,862,302 probably benign Het
Plekha5 T A 6: 140,525,916 M131K probably benign Het
Pomt1 T A 2: 32,243,472 S207T probably benign Het
Prlr T A 15: 10,314,220 M1K probably null Het
Prr15 A G 6: 54,329,505 K83E probably damaging Het
Rnf4 A G 5: 34,346,779 N5S probably benign Het
Sel1l3 T A 5: 53,200,143 H169L probably benign Het
Slc24a5 A G 2: 125,068,903 I85V probably benign Het
Tmc2 T C 2: 130,260,240 I775T possibly damaging Het
Trnau1ap A T 4: 132,319,562 F141L probably benign Het
Zswim9 A T 7: 13,260,321 V636D possibly damaging Het
Other mutations in Zscan4d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00518:Zscan4d APN 7 11162354 missense probably benign 0.00
IGL01576:Zscan4d APN 7 11162592 missense possibly damaging 0.91
IGL02008:Zscan4d APN 7 11162369 missense probably benign 0.00
IGL02245:Zscan4d APN 7 11162789 missense probably benign
IGL02473:Zscan4d APN 7 11162409 missense probably benign 0.04
IGL02805:Zscan4d APN 7 11164970 splice site probably benign
IGL03010:Zscan4d APN 7 11163143 missense probably damaging 0.98
IGL03383:Zscan4d APN 7 11162765 missense probably benign 0.07
R0626:Zscan4d UTSW 7 11165019 missense probably damaging 0.97
R1084:Zscan4d UTSW 7 11165005 missense probably damaging 0.99
R1457:Zscan4d UTSW 7 11164994 missense probably damaging 0.98
R2426:Zscan4d UTSW 7 11165095 missense probably damaging 0.99
R2912:Zscan4d UTSW 7 11162687 missense probably benign
R3736:Zscan4d UTSW 7 11162876 missense probably benign
R4379:Zscan4d UTSW 7 11164978 missense probably benign
R4580:Zscan4d UTSW 7 11162508 missense probably benign 0.00
R4765:Zscan4d UTSW 7 11162667 missense probably benign 0.08
R4975:Zscan4d UTSW 7 11165347 start codon destroyed probably null 0.02
R6452:Zscan4d UTSW 7 11162072 missense probably damaging 0.98
R6570:Zscan4d UTSW 7 11162000 missense possibly damaging 0.92
R6680:Zscan4d UTSW 7 11162439 missense possibly damaging 0.85
Posted On2014-05-07