Incidental Mutation 'IGL02236:Zscan18'
ID 285872
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zscan18
Ensembl Gene ENSMUSG00000070822
Gene Name zinc finger and SCAN domain containing 18
Synonyms EG232875
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL02236
Quality Score
Status
Chromosome 7
Chromosomal Location 12502017-12537562 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 12503251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 769 (D769E)
Ref Sequence ENSEMBL: ENSMUSP00000148239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046245] [ENSMUST00000210650] [ENSMUST00000211392]
AlphaFold E9PUD6
Predicted Effect probably benign
Transcript: ENSMUST00000046245
AA Change: D769E

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000047088
Gene: ENSMUSG00000070822
AA Change: D769E

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
low complexity region 30 45 N/A INTRINSIC
low complexity region 72 102 N/A INTRINSIC
low complexity region 118 132 N/A INTRINSIC
low complexity region 134 154 N/A INTRINSIC
internal_repeat_2 159 204 6.76e-5 PROSPERO
internal_repeat_1 197 221 2.66e-6 PROSPERO
low complexity region 225 256 N/A INTRINSIC
low complexity region 262 310 N/A INTRINSIC
low complexity region 312 335 N/A INTRINSIC
internal_repeat_1 353 377 2.66e-6 PROSPERO
SCAN 397 509 1.16e-37 SMART
ZnF_C2H2 776 798 2.24e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209869
Predicted Effect probably benign
Transcript: ENSMUST00000210650
AA Change: D769E

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000210891
Predicted Effect probably benign
Transcript: ENSMUST00000211392
AA Change: D769E

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211665
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baz1b T C 5: 135,246,138 (GRCm39) L529P probably damaging Het
Bdp1 A T 13: 100,197,399 (GRCm39) D995E probably benign Het
Cd22 T C 7: 30,566,893 (GRCm39) N607S possibly damaging Het
Ddx10 T A 9: 53,146,682 (GRCm39) D180V probably damaging Het
Dennd4c T C 4: 86,725,672 (GRCm39) Y709H possibly damaging Het
Dhrs3 A C 4: 144,620,133 (GRCm39) I17L probably benign Het
Dnah8 A T 17: 30,868,747 (GRCm39) K394* probably null Het
Flnc T A 6: 29,454,375 (GRCm39) I1896N probably damaging Het
Glipr1l2 A G 10: 111,928,534 (GRCm39) Y143C probably damaging Het
Lmo7 T C 14: 102,163,524 (GRCm39) probably benign Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Mast3 A G 8: 71,241,888 (GRCm39) S98P probably benign Het
Myf5 A G 10: 107,320,051 (GRCm39) S200P possibly damaging Het
Or52r1b T G 7: 102,690,928 (GRCm39) S76A possibly damaging Het
Pramel12 G A 4: 143,143,512 (GRCm39) V93I probably benign Het
Recql5 A C 11: 115,784,856 (GRCm39) S824A probably benign Het
Reg2 A G 6: 78,383,188 (GRCm39) E45G probably damaging Het
Rergl T C 6: 139,471,918 (GRCm39) D77G probably benign Het
Rnf224 T C 2: 25,126,260 (GRCm39) D31G probably damaging Het
Sema4c C T 1: 36,592,166 (GRCm39) S227N probably damaging Het
Sgsm2 C T 11: 74,750,698 (GRCm39) G439D probably damaging Het
Smap2 T A 4: 120,832,587 (GRCm39) M185L probably benign Het
Spty2d1 A G 7: 46,647,360 (GRCm39) V523A probably benign Het
Stk17b C A 1: 53,803,247 (GRCm39) R184L probably damaging Het
Syt13 A G 2: 92,771,210 (GRCm39) D99G probably damaging Het
Trav14-1 T A 14: 53,791,763 (GRCm39) S38T possibly damaging Het
Ttn T C 2: 76,700,812 (GRCm39) probably benign Het
Usp17la G A 7: 104,510,353 (GRCm39) W319* probably null Het
Vmn2r73 T C 7: 85,521,902 (GRCm39) T146A probably benign Het
Vwa3b C T 1: 37,193,132 (GRCm39) probably benign Het
Zfp13 A T 17: 23,799,739 (GRCm39) probably benign Het
Other mutations in Zscan18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01930:Zscan18 APN 7 12,509,275 (GRCm39) unclassified probably benign
IGL02152:Zscan18 APN 7 12,509,223 (GRCm39) unclassified probably benign
IGL02591:Zscan18 APN 7 12,509,206 (GRCm39) unclassified probably benign
IGL02619:Zscan18 APN 7 12,508,793 (GRCm39) unclassified probably benign
IGL02711:Zscan18 APN 7 12,509,044 (GRCm39) unclassified probably benign
IGL03397:Zscan18 APN 7 12,507,488 (GRCm39) missense probably damaging 0.97
R0014:Zscan18 UTSW 7 12,503,344 (GRCm39) missense possibly damaging 0.48
R0465:Zscan18 UTSW 7 12,509,413 (GRCm39) unclassified probably benign
R0548:Zscan18 UTSW 7 12,508,103 (GRCm39) missense probably damaging 1.00
R1506:Zscan18 UTSW 7 12,508,129 (GRCm39) missense probably damaging 1.00
R1725:Zscan18 UTSW 7 12,504,784 (GRCm39) missense probably damaging 1.00
R2323:Zscan18 UTSW 7 12,509,386 (GRCm39) unclassified probably benign
R5034:Zscan18 UTSW 7 12,508,072 (GRCm39) missense probably damaging 1.00
R5180:Zscan18 UTSW 7 12,509,216 (GRCm39) unclassified probably benign
R5579:Zscan18 UTSW 7 12,509,308 (GRCm39) unclassified probably benign
R5635:Zscan18 UTSW 7 12,504,791 (GRCm39) missense probably benign 0.00
R5708:Zscan18 UTSW 7 12,508,383 (GRCm39) missense probably benign 0.01
R6088:Zscan18 UTSW 7 12,509,125 (GRCm39) unclassified probably benign
R6320:Zscan18 UTSW 7 12,509,147 (GRCm39) unclassified probably benign
R7048:Zscan18 UTSW 7 12,508,671 (GRCm39) unclassified probably benign
R7610:Zscan18 UTSW 7 12,503,237 (GRCm39) missense probably damaging 0.98
R7683:Zscan18 UTSW 7 12,503,532 (GRCm39) nonsense probably null
R8287:Zscan18 UTSW 7 12,509,298 (GRCm39) missense unknown
R8674:Zscan18 UTSW 7 12,504,827 (GRCm39) splice site probably benign
R8735:Zscan18 UTSW 7 12,503,625 (GRCm39) missense probably benign 0.16
R8928:Zscan18 UTSW 7 12,509,120 (GRCm39) nonsense probably null
R9028:Zscan18 UTSW 7 12,506,116 (GRCm39) intron probably benign
R9290:Zscan18 UTSW 7 12,508,054 (GRCm39) missense probably damaging 0.99
R9342:Zscan18 UTSW 7 12,505,612 (GRCm39) missense probably damaging 1.00
R9471:Zscan18 UTSW 7 12,508,343 (GRCm39) missense possibly damaging 0.70
R9522:Zscan18 UTSW 7 12,503,297 (GRCm39) missense possibly damaging 0.91
R9631:Zscan18 UTSW 7 12,505,657 (GRCm39) missense possibly damaging 0.90
RF055:Zscan18 UTSW 7 12,508,352 (GRCm39) small deletion probably benign
Z1088:Zscan18 UTSW 7 12,509,020 (GRCm39) unclassified probably benign
Z1088:Zscan18 UTSW 7 12,508,994 (GRCm39) missense probably benign 0.18
Posted On 2015-04-16