Incidental Mutation 'IGL00896:Zswim8'
ID28918
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zswim8
Ensembl Gene ENSMUSG00000021819
Gene Namezinc finger SWIM-type containing 8
Synonyms2310021P13Rik, 4832404P21Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.962) question?
Stock #IGL00896
Quality Score
Status
Chromosome14
Chromosomal Location20707552-20723619 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 20716001 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 785 (E785G)
Ref Sequence ENSEMBL: ENSMUSP00000153285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022358] [ENSMUST00000223840] [ENSMUST00000224129] [ENSMUST00000224751]
Predicted Effect probably damaging
Transcript: ENSMUST00000022358
AA Change: E785G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022358
Gene: ENSMUSG00000021819
AA Change: E785G

DomainStartEndE-ValueType
low complexity region 50 66 N/A INTRINSIC
low complexity region 89 102 N/A INTRINSIC
low complexity region 390 405 N/A INTRINSIC
low complexity region 578 612 N/A INTRINSIC
low complexity region 736 751 N/A INTRINSIC
low complexity region 1000 1015 N/A INTRINSIC
low complexity region 1120 1135 N/A INTRINSIC
low complexity region 1176 1211 N/A INTRINSIC
low complexity region 1259 1270 N/A INTRINSIC
low complexity region 1343 1355 N/A INTRINSIC
low complexity region 1470 1487 N/A INTRINSIC
low complexity region 1491 1511 N/A INTRINSIC
low complexity region 1527 1542 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223561
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223782
Predicted Effect probably damaging
Transcript: ENSMUST00000223840
AA Change: E751G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000224129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224485
Predicted Effect probably damaging
Transcript: ENSMUST00000224751
AA Change: E785G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225010
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225332
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225715
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225743
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,039,462 T4352A probably benign Het
Adam6a A G 12: 113,545,410 T468A possibly damaging Het
Ankrd35 A G 3: 96,684,276 E626G probably damaging Het
Arhgef4 A G 1: 34,811,696 Y1812C possibly damaging Het
Aurkc T C 7: 7,002,514 Y260H possibly damaging Het
Cpb1 A G 3: 20,252,029 V329A probably benign Het
Cyp2d11 G T 15: 82,391,074 probably benign Het
Dnase1 G A 16: 4,039,212 S28N probably benign Het
Evpl C A 11: 116,222,584 E1427* probably null Het
Gimap6 T C 6: 48,702,460 N214S probably benign Het
Htr1f A T 16: 64,926,106 H274Q probably benign Het
Ipo9 A T 1: 135,400,059 V538E probably damaging Het
Lmf2 T C 15: 89,353,336 K308E probably benign Het
Mog T A 17: 37,017,485 probably null Het
Myo19 T C 11: 84,909,498 V903A probably benign Het
Myt1l A G 12: 29,826,886 T179A unknown Het
Nckap1 C T 2: 80,580,953 V5M possibly damaging Het
Olfr382 T C 11: 73,516,341 N286S probably damaging Het
Olfr459 A T 6: 41,772,113 L62Q probably damaging Het
Olfr630 T C 7: 103,755,006 D193G probably damaging Het
Pcdhb5 T G 18: 37,322,785 probably null Het
Pcm1 C A 8: 41,276,123 Q711K possibly damaging Het
Pde6a A G 18: 61,220,792 D63G possibly damaging Het
Piezo1 T C 8: 122,497,870 M711V possibly damaging Het
Prrxl1 C T 14: 32,605,214 probably benign Het
Rev1 G A 1: 38,098,940 T88I probably damaging Het
Sntg1 A T 1: 8,595,410 probably null Het
Sult2a1 T A 7: 13,832,640 T137S probably benign Het
Txndc15 G A 13: 55,725,675 A283T probably damaging Het
Other mutations in Zswim8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Zswim8 APN 14 20718475 missense probably damaging 0.99
IGL00470:Zswim8 APN 14 20723181 missense probably damaging 1.00
IGL00675:Zswim8 APN 14 20716901 unclassified probably benign
IGL01343:Zswim8 APN 14 20713341 missense probably damaging 1.00
IGL01736:Zswim8 APN 14 20714712 missense probably benign 0.11
IGL01961:Zswim8 APN 14 20712334 missense possibly damaging 0.76
IGL02331:Zswim8 APN 14 20723257 missense probably damaging 1.00
IGL02485:Zswim8 APN 14 20711887 missense probably damaging 0.98
IGL02662:Zswim8 APN 14 20713074 missense probably benign 0.14
IGL03001:Zswim8 APN 14 20714391 missense probably damaging 1.00
pool UTSW 14 20714573 splice site probably null
R0123:Zswim8 UTSW 14 20716490 splice site probably benign
R0362:Zswim8 UTSW 14 20721945 missense possibly damaging 0.58
R0402:Zswim8 UTSW 14 20710766 missense probably damaging 1.00
R0458:Zswim8 UTSW 14 20718897 missense probably damaging 1.00
R1087:Zswim8 UTSW 14 20717865 splice site probably null
R1158:Zswim8 UTSW 14 20721668 splice site probably benign
R1171:Zswim8 UTSW 14 20713113 missense possibly damaging 0.94
R1389:Zswim8 UTSW 14 20710748 missense probably damaging 1.00
R1773:Zswim8 UTSW 14 20711530 missense probably damaging 0.96
R1780:Zswim8 UTSW 14 20716327 missense probably damaging 0.99
R1850:Zswim8 UTSW 14 20710747 nonsense probably null
R2421:Zswim8 UTSW 14 20719457 missense probably damaging 1.00
R3826:Zswim8 UTSW 14 20711089 nonsense probably null
R3965:Zswim8 UTSW 14 20713073 missense probably benign
R4301:Zswim8 UTSW 14 20713909 missense possibly damaging 0.91
R4499:Zswim8 UTSW 14 20714297 missense probably benign 0.05
R4633:Zswim8 UTSW 14 20718823 missense probably damaging 1.00
R4675:Zswim8 UTSW 14 20714613 missense probably benign
R4958:Zswim8 UTSW 14 20713465 missense probably damaging 1.00
R5255:Zswim8 UTSW 14 20721651 missense probably damaging 1.00
R5288:Zswim8 UTSW 14 20718871 missense possibly damaging 0.92
R5341:Zswim8 UTSW 14 20716054 missense probably damaging 1.00
R5495:Zswim8 UTSW 14 20722286 missense probably damaging 0.97
R5652:Zswim8 UTSW 14 20713427 missense possibly damaging 0.62
R6273:Zswim8 UTSW 14 20713453 missense probably benign 0.06
R6281:Zswim8 UTSW 14 20714640 missense probably benign 0.02
R6364:Zswim8 UTSW 14 20713011 missense probably damaging 1.00
R6426:Zswim8 UTSW 14 20718526 missense probably damaging 0.99
R6576:Zswim8 UTSW 14 20721874 missense probably benign 0.41
R6798:Zswim8 UTSW 14 20715992 missense probably damaging 1.00
R7059:Zswim8 UTSW 14 20714573 splice site probably null
R7243:Zswim8 UTSW 14 20714368 missense probably damaging 1.00
R7250:Zswim8 UTSW 14 20719968 missense probably damaging 1.00
R7311:Zswim8 UTSW 14 20721484 missense probably damaging 1.00
R7567:Zswim8 UTSW 14 20719933 missense probably damaging 1.00
R7635:Zswim8 UTSW 14 20716300 missense probably damaging 0.99
R7771:Zswim8 UTSW 14 20712980 missense probably damaging 1.00
R7874:Zswim8 UTSW 14 20723149 missense probably damaging 0.98
R7994:Zswim8 UTSW 14 20708004 missense possibly damaging 0.95
R8466:Zswim8 UTSW 14 20710676 missense possibly damaging 0.93
X0026:Zswim8 UTSW 14 20710632 splice site probably null
X0028:Zswim8 UTSW 14 20714657 missense probably benign 0.19
X0058:Zswim8 UTSW 14 20712990 missense probably damaging 0.99
Z1177:Zswim8 UTSW 14 20713044 missense probably damaging 1.00
Posted On2013-04-17