Incidental Mutation 'IGL01576:Zscan4d'
ID91248
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? Probably non essential (E-score: 0.142) question?
Stock #IGL01576
Quality Score
Status
Chromosome7
Chromosomal Location11161374-11166159 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 11162592 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 284 (N284D)
Ref Sequence ENSEMBL: ENSMUSP00000066504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067210] [ENSMUST00000165848]
Predicted Effect possibly damaging
Transcript: ENSMUST00000067210
AA Change: N284D

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000066504
Gene: ENSMUSG00000090714
AA Change: N284D

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: N284D

PolyPhen 2 Score 0.040 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131258
Gene: ENSMUSG00000110103
AA Change: N284D

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,554,330 probably benign Het
Ank3 A G 10: 69,980,291 E541G probably damaging Het
Arhgef5 A T 6: 43,274,028 D571V probably benign Het
Birc6 A G 17: 74,677,370 N4459S possibly damaging Het
Brsk2 T C 7: 141,981,555 I38T possibly damaging Het
Cacna2d4 A T 6: 119,281,641 R563* probably null Het
Car7 T A 8: 104,549,548 probably null Het
Chml T C 1: 175,687,705 T217A probably benign Het
Dnah7b T G 1: 46,268,653 N3042K probably damaging Het
Efcab2 T G 1: 178,437,392 probably benign Het
Espn T C 4: 152,123,717 E397G probably damaging Het
Fam20c A G 5: 138,807,339 T443A probably damaging Het
Fam221b T C 4: 43,666,227 E128G probably benign Het
Fat4 A G 3: 38,888,947 D663G probably damaging Het
Fndc10 T A 4: 155,694,976 V159D probably benign Het
Gm14496 A G 2: 181,991,371 Y49C possibly damaging Het
Gpr63 G T 4: 25,008,445 D390Y possibly damaging Het
Herc2 G A 7: 56,226,661 probably null Het
Igdcc3 A G 9: 65,177,870 T199A probably damaging Het
Ireb2 T C 9: 54,892,510 Y412H probably damaging Het
Lpin3 T C 2: 160,897,127 V285A probably benign Het
Mdga1 T C 17: 29,843,127 S443G possibly damaging Het
Med22 C T 2: 26,908,992 probably null Het
Mpp6 G A 6: 50,163,492 R164Q probably benign Het
Olfr1356 G T 10: 78,847,373 L181I possibly damaging Het
Pcnt T G 10: 76,368,822 D2583A probably damaging Het
Pkn3 G A 2: 30,087,042 R598Q probably damaging Het
Pnpla7 T C 2: 25,016,563 V646A probably damaging Het
Podxl A T 6: 31,524,384 V412D probably damaging Het
Rad51ap1 A T 6: 126,928,160 S129R probably damaging Het
Relb T C 7: 19,612,601 I349V probably benign Het
Rorb C T 19: 18,957,334 G224D probably damaging Het
Slc40a1 T A 1: 45,909,597 I508F probably damaging Het
Tanc1 G A 2: 59,797,735 V619M probably damaging Het
Tgm7 A T 2: 121,101,033 D216E probably damaging Het
Tmem132e A G 11: 82,438,374 D493G probably damaging Het
Zfp110 T A 7: 12,849,671 C749S probably damaging Het
Other mutations in Zscan4d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00518:Zscan4d APN 7 11162354 missense probably benign 0.00
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 On2013-12-09