Incidental Mutation 'IGL00518:Zscan4d'
ID 5330
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zscan4d
Ensembl Gene ENSMUSG00000090714
Gene Name zinc finger and SCAN domain containing 4D
Synonyms EG545913
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.107) question?
Stock # IGL00518
Quality Score
Status
Chromosome 7
Chromosomal Location 11161374-11166159 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11162354 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 363 (E363G)
Ref Sequence ENSEMBL: ENSMUSP00000131258 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067210] [ENSMUST00000165848]
AlphaFold A7KBS4
Predicted Effect probably benign
Transcript: ENSMUST00000067210
AA Change: E363G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066504
Gene: ENSMUSG00000090714
AA Change: E363G

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: E363G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131258
Gene: ENSMUSG00000110103
AA Change: E363G

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430573F11Rik C T 8: 36,512,299 T352I possibly damaging Het
Adam23 T C 1: 63,570,954 V705A probably damaging Het
Cacna2d4 C T 6: 119,343,575 L905F probably damaging Het
Copb2 A T 9: 98,582,894 K627N possibly damaging Het
Dennd5b A G 6: 149,027,330 C782R probably damaging Het
Diaph1 A G 18: 37,893,348 probably null Het
Esyt1 C T 10: 128,521,874 D243N probably benign Het
Hectd1 A G 12: 51,776,489 probably benign Het
Klk1b4 T C 7: 44,211,032 probably benign Het
Lce1i T A 3: 92,777,604 R88S unknown Het
Lrrc37a G T 11: 103,500,351 P1416Q probably benign Het
Mcm6 C A 1: 128,344,383 A426S probably damaging Het
Mycbp2 C T 14: 103,155,808 V3106I probably damaging Het
Nkiras1 T G 14: 18,278,435 F50V probably benign Het
Pik3r6 A T 11: 68,534,251 I457F probably damaging Het
Rbck1 T C 2: 152,318,395 K455E probably damaging Het
Ryr2 T A 13: 11,834,092 probably benign Het
Serpinb9b T A 13: 33,039,570 F248L probably benign Het
Sox6 C A 7: 115,477,206 M733I probably benign Het
Supt20 T C 3: 54,715,169 S446P probably damaging Het
Tmem209 A G 6: 30,487,417 M530T probably damaging Het
Top2a A T 11: 99,018,821 Y150* probably null Het
Ttn T A 2: 76,903,382 probably benign Het
Ubr2 A G 17: 46,992,996 Y138H probably damaging Het
Utrn A G 10: 12,666,843 probably benign Het
Zfp354a T A 11: 51,070,554 S531T probably damaging Het
Other mutations in Zscan4d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01576:Zscan4d APN 7 11162592 missense possibly damaging 0.91
IGL01926:Zscan4d APN 7 11164994 missense probably damaging 0.98
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
R7726:Zscan4d UTSW 7 11165242 missense possibly damaging 0.65
R7772:Zscan4d UTSW 7 11162843 missense probably benign 0.28
R8282:Zscan4d UTSW 7 11162442 missense possibly damaging 0.91
R8320:Zscan4d UTSW 7 11066015 missense probably benign 0.00
Posted On 2012-04-20