Incidental Mutation 'IGL02485:Zswim8'
ID 295386
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zswim8
Ensembl Gene ENSMUSG00000021819
Gene Name zinc finger SWIM-type containing 8
Synonyms 2310021P13Rik, 4832404P21Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # IGL02485
Quality Score
Status
Chromosome 14
Chromosomal Location 20757620-20773687 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 20761955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 243 (L243F)
Ref Sequence ENSEMBL: ENSMUSP00000153285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022358] [ENSMUST00000223840] [ENSMUST00000224129] [ENSMUST00000224751]
AlphaFold Q3UHH1
Predicted Effect probably damaging
Transcript: ENSMUST00000022358
AA Change: L243F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022358
Gene: ENSMUSG00000021819
AA Change: L243F

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: ENSMUST00000223782
Predicted Effect probably damaging
Transcript: ENSMUST00000223840
AA Change: L243F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000224129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224165
Predicted Effect probably damaging
Transcript: ENSMUST00000224751
AA Change: L243F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225332
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225715
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225010
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225743
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A G 3: 116,572,729 (GRCm39) S841P probably benign Het
Cd59b A C 2: 103,911,449 (GRCm39) probably benign Het
Dop1b T C 16: 93,567,710 (GRCm39) L1379P probably damaging Het
Ercc2 G A 7: 19,127,970 (GRCm39) A433T possibly damaging Het
Gm17175 T C 14: 51,807,068 (GRCm39) probably benign Het
Gm5150 A T 3: 16,044,916 (GRCm39) I103N probably damaging Het
Igf1 A G 10: 87,700,608 (GRCm39) M11V probably benign Het
Incenp T C 19: 9,870,732 (GRCm39) N299S unknown Het
Maneal A T 4: 124,750,563 (GRCm39) S398T probably damaging Het
Map1a A G 2: 121,129,769 (GRCm39) N195S probably damaging Het
Mars2 T C 1: 55,276,750 (GRCm39) F118L possibly damaging Het
Mast4 A G 13: 102,872,004 (GRCm39) S2263P probably benign Het
Mrgprb1 C A 7: 48,097,465 (GRCm39) R149L possibly damaging Het
Myo1d T C 11: 80,557,407 (GRCm39) D511G probably damaging Het
Ntan1 T C 16: 13,652,540 (GRCm39) probably benign Het
Nxf2 A G X: 133,857,216 (GRCm39) F158L probably damaging Het
Odr4 A G 1: 150,239,240 (GRCm39) probably null Het
Or10g3b T A 14: 52,587,501 (GRCm39) M1L possibly damaging Het
Potefam1 A T 2: 111,058,670 (GRCm39) V94E probably damaging Het
Trpm1 C T 7: 63,918,862 (GRCm39) A734V possibly damaging Het
Upf2 G A 2: 6,032,102 (GRCm39) E883K unknown Het
Ush1c T C 7: 45,878,674 (GRCm39) I83V probably damaging Het
Vmn2r60 C A 7: 41,844,890 (GRCm39) T751N possibly damaging Het
Zfp146 A G 7: 29,862,015 (GRCm39) I9T probably benign Het
Zfp592 G A 7: 80,687,718 (GRCm39) probably benign Het
Other mutations in Zswim8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Zswim8 APN 14 20,768,543 (GRCm39) missense probably damaging 0.99
IGL00470:Zswim8 APN 14 20,773,249 (GRCm39) missense probably damaging 1.00
IGL00675:Zswim8 APN 14 20,766,969 (GRCm39) unclassified probably benign
IGL00896:Zswim8 APN 14 20,766,069 (GRCm39) missense probably damaging 1.00
IGL01343:Zswim8 APN 14 20,763,409 (GRCm39) missense probably damaging 1.00
IGL01736:Zswim8 APN 14 20,764,780 (GRCm39) missense probably benign 0.11
IGL01961:Zswim8 APN 14 20,762,402 (GRCm39) missense possibly damaging 0.76
IGL02331:Zswim8 APN 14 20,773,325 (GRCm39) missense probably damaging 1.00
IGL02662:Zswim8 APN 14 20,763,142 (GRCm39) missense probably benign 0.14
IGL03001:Zswim8 APN 14 20,764,459 (GRCm39) missense probably damaging 1.00
pool UTSW 14 20,764,641 (GRCm39) splice site probably null
R0123:Zswim8 UTSW 14 20,766,558 (GRCm39) splice site probably benign
R0362:Zswim8 UTSW 14 20,772,013 (GRCm39) missense possibly damaging 0.58
R0402:Zswim8 UTSW 14 20,760,834 (GRCm39) missense probably damaging 1.00
R0458:Zswim8 UTSW 14 20,768,965 (GRCm39) missense probably damaging 1.00
R1087:Zswim8 UTSW 14 20,767,933 (GRCm39) splice site probably null
R1158:Zswim8 UTSW 14 20,771,736 (GRCm39) splice site probably benign
R1171:Zswim8 UTSW 14 20,763,181 (GRCm39) missense possibly damaging 0.94
R1389:Zswim8 UTSW 14 20,760,816 (GRCm39) missense probably damaging 1.00
R1773:Zswim8 UTSW 14 20,761,598 (GRCm39) missense probably damaging 0.96
R1780:Zswim8 UTSW 14 20,766,395 (GRCm39) missense probably damaging 0.99
R1850:Zswim8 UTSW 14 20,760,815 (GRCm39) nonsense probably null
R2421:Zswim8 UTSW 14 20,769,525 (GRCm39) missense probably damaging 1.00
R3826:Zswim8 UTSW 14 20,761,157 (GRCm39) nonsense probably null
R3965:Zswim8 UTSW 14 20,763,141 (GRCm39) missense probably benign
R4301:Zswim8 UTSW 14 20,763,977 (GRCm39) missense possibly damaging 0.91
R4499:Zswim8 UTSW 14 20,764,365 (GRCm39) missense probably benign 0.05
R4633:Zswim8 UTSW 14 20,768,891 (GRCm39) missense probably damaging 1.00
R4675:Zswim8 UTSW 14 20,764,681 (GRCm39) missense probably benign
R4958:Zswim8 UTSW 14 20,763,533 (GRCm39) missense probably damaging 1.00
R5255:Zswim8 UTSW 14 20,771,719 (GRCm39) missense probably damaging 1.00
R5288:Zswim8 UTSW 14 20,768,939 (GRCm39) missense possibly damaging 0.92
R5341:Zswim8 UTSW 14 20,766,122 (GRCm39) missense probably damaging 1.00
R5495:Zswim8 UTSW 14 20,772,354 (GRCm39) missense probably damaging 0.97
R5652:Zswim8 UTSW 14 20,763,495 (GRCm39) missense possibly damaging 0.62
R6273:Zswim8 UTSW 14 20,763,521 (GRCm39) missense probably benign 0.06
R6281:Zswim8 UTSW 14 20,764,708 (GRCm39) missense probably benign 0.02
R6364:Zswim8 UTSW 14 20,763,079 (GRCm39) missense probably damaging 1.00
R6426:Zswim8 UTSW 14 20,768,594 (GRCm39) missense probably damaging 0.99
R6576:Zswim8 UTSW 14 20,771,942 (GRCm39) missense probably benign 0.41
R6798:Zswim8 UTSW 14 20,766,060 (GRCm39) missense probably damaging 1.00
R7059:Zswim8 UTSW 14 20,764,641 (GRCm39) splice site probably null
R7243:Zswim8 UTSW 14 20,764,436 (GRCm39) missense probably damaging 1.00
R7250:Zswim8 UTSW 14 20,770,036 (GRCm39) missense probably damaging 1.00
R7311:Zswim8 UTSW 14 20,771,552 (GRCm39) missense probably damaging 1.00
R7567:Zswim8 UTSW 14 20,770,001 (GRCm39) missense probably damaging 1.00
R7635:Zswim8 UTSW 14 20,766,368 (GRCm39) missense probably damaging 0.99
R7771:Zswim8 UTSW 14 20,763,048 (GRCm39) missense probably damaging 1.00
R7874:Zswim8 UTSW 14 20,773,217 (GRCm39) missense probably damaging 0.98
R7994:Zswim8 UTSW 14 20,758,072 (GRCm39) missense possibly damaging 0.95
R8466:Zswim8 UTSW 14 20,760,744 (GRCm39) missense possibly damaging 0.93
R9019:Zswim8 UTSW 14 20,761,119 (GRCm39) missense probably damaging 1.00
R9177:Zswim8 UTSW 14 20,761,908 (GRCm39) missense probably damaging 1.00
R9192:Zswim8 UTSW 14 20,769,588 (GRCm39) missense probably damaging 1.00
R9229:Zswim8 UTSW 14 20,766,393 (GRCm39) missense probably benign 0.45
R9268:Zswim8 UTSW 14 20,761,908 (GRCm39) missense probably damaging 1.00
R9562:Zswim8 UTSW 14 20,762,150 (GRCm39) nonsense probably null
R9589:Zswim8 UTSW 14 20,763,171 (GRCm39) missense probably damaging 0.99
R9621:Zswim8 UTSW 14 20,772,231 (GRCm39) missense probably benign 0.00
X0026:Zswim8 UTSW 14 20,760,700 (GRCm39) splice site probably null
X0028:Zswim8 UTSW 14 20,764,725 (GRCm39) missense probably benign 0.19
X0058:Zswim8 UTSW 14 20,763,058 (GRCm39) missense probably damaging 0.99
Z1177:Zswim8 UTSW 14 20,763,112 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16