Incidental Mutation 'R6798:Zswim8'
ID 533139
Institutional Source Beutler Lab
Gene Symbol Zswim8
Ensembl Gene ENSMUSG00000021819
Gene Name zinc finger SWIM-type containing 8
Synonyms 2310021P13Rik, 4832404P21Rik
MMRRC Submission 044911-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R6798 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 20757620-20773687 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20766060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 782 (Y782C)
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: Y782C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022358
Gene: ENSMUSG00000021819
AA Change: Y782C

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 probably damaging
Transcript: ENSMUST00000223840
AA Change: Y748C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000224129
Predicted Effect probably damaging
Transcript: ENSMUST00000224751
AA Change: Y782C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.4%
Validation Efficiency 97% (73/75)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T C 5: 8,782,364 (GRCm39) Y916H probably damaging Het
Adam11 A G 11: 102,667,834 (GRCm39) I740V probably damaging Het
Adam22 A T 5: 8,210,784 (GRCm39) D161E probably damaging Het
Agap3 A G 5: 24,703,280 (GRCm39) probably null Het
Ank2 T C 3: 126,737,913 (GRCm39) probably benign Het
Aspm T A 1: 139,396,423 (GRCm39) H867Q possibly damaging Het
Aurkaip1 T C 4: 155,917,196 (GRCm39) probably null Het
BC048507 A C 13: 68,011,683 (GRCm39) D20A probably benign Het
Cacna1a G A 8: 85,338,231 (GRCm39) A1704T probably damaging Het
Cep152 A C 2: 125,408,447 (GRCm39) probably null Het
Cep19 T C 16: 31,922,867 (GRCm39) probably null Het
Cfhr4 T C 1: 139,625,859 (GRCm39) T813A probably benign Het
Chd9 A T 8: 91,778,182 (GRCm39) E2731V possibly damaging Het
Chrd T C 16: 20,553,056 (GRCm39) L139P probably damaging Het
Cit A G 5: 116,064,585 (GRCm39) E489G possibly damaging Het
Clcn7 A G 17: 25,378,734 (GRCm39) N720D probably damaging Het
Col6a3 T C 1: 90,722,731 (GRCm39) probably null Het
Dchs2 T A 3: 83,255,593 (GRCm39) Y2430N probably damaging Het
Dpy30 A G 17: 74,614,751 (GRCm39) I64T probably damaging Het
Eif2b3 G T 4: 116,923,655 (GRCm39) W290L probably benign Het
Epha6 T G 16: 60,425,427 (GRCm39) E62A possibly damaging Het
Epha6 C T 16: 60,425,428 (GRCm39) E62K possibly damaging Het
Epha8 C T 4: 136,672,980 (GRCm39) R268Q probably benign Het
Fbxw17 C A 13: 50,587,300 (GRCm39) probably null Het
Fndc8 C T 11: 82,783,217 (GRCm39) T66I probably benign Het
Frmpd1 A G 4: 45,284,850 (GRCm39) T1224A probably benign Het
Gcm2 T C 13: 41,259,361 (GRCm39) D36G probably damaging Het
Glt28d2 T C 3: 85,779,296 (GRCm39) D59G probably benign Het
Gorasp1 T C 9: 119,758,663 (GRCm39) D243G probably benign Het
Gtsf1l T C 2: 162,929,391 (GRCm39) K31E probably benign Het
Heatr5a A G 12: 51,928,048 (GRCm39) V1816A probably benign Het
Il10ra T C 9: 45,167,730 (GRCm39) K274E probably damaging Het
Il1rl2 T C 1: 40,404,400 (GRCm39) I507T probably damaging Het
Jak3 T G 8: 72,133,615 (GRCm39) F408V probably damaging Het
Kdm1b A G 13: 47,222,012 (GRCm39) T484A probably benign Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Map9 T G 3: 82,287,471 (GRCm39) L31W probably damaging Het
Mical2 T C 7: 111,975,266 (GRCm39) probably benign Het
Mt1 A G 8: 94,906,516 (GRCm39) probably benign Het
Myo18b T C 5: 112,909,252 (GRCm39) I1964V probably damaging Het
Nalf1 G A 8: 9,820,205 (GRCm39) Q272* probably null Het
Nod1 A T 6: 54,921,596 (GRCm39) C241S probably damaging Het
Nrxn1 T A 17: 90,937,378 (GRCm39) D685V probably damaging Het
Oog1 A T 12: 87,655,609 (GRCm39) probably null Het
Or11a4 T G 17: 37,536,697 (GRCm39) L227R probably damaging Het
Or2ag13 T C 7: 106,313,402 (GRCm39) Y162C probably damaging Het
Or4k2 A G 14: 50,424,584 (GRCm39) V30A probably benign Het
Or56b1b T A 7: 108,164,967 (GRCm39) K12* probably null Het
P4htm T A 9: 108,460,117 (GRCm39) N219I possibly damaging Het
Pcif1 T C 2: 164,727,711 (GRCm39) L168P possibly damaging Het
Pde4dip A G 3: 97,795,850 (GRCm39) V46A probably benign Het
Pias1 T C 9: 62,799,451 (GRCm39) T480A probably benign Het
Prkd2 A T 7: 16,583,128 (GRCm39) K297* probably null Het
Prl7d1 T A 13: 27,893,380 (GRCm39) probably null Het
Pxdc1 G T 13: 34,836,408 (GRCm39) A4E possibly damaging Het
Rcor1 A G 12: 111,006,320 (GRCm39) probably benign Het
Rev3l A T 10: 39,730,759 (GRCm39) D2761V probably damaging Het
Scgb1b7 A G 7: 31,412,406 (GRCm39) T61A probably damaging Het
Sec14l2 A G 11: 4,061,213 (GRCm39) Y83H probably damaging Het
Setd4 C A 16: 93,386,841 (GRCm39) V286F probably damaging Het
Slc22a29 A G 19: 8,137,968 (GRCm39) S536P probably benign Het
Snx25 T C 8: 46,486,810 (GRCm39) H977R probably damaging Het
Spint5 T A 2: 164,559,060 (GRCm39) C95* probably null Het
Sprr5 G C 3: 92,440,243 (GRCm39) C65W unknown Het
Srgap1 T C 10: 121,761,809 (GRCm39) D113G probably damaging Het
Stxbp2 T A 8: 3,691,180 (GRCm39) S476T probably benign Het
Tg A G 15: 66,550,688 (GRCm39) T273A probably damaging Het
Tnc C T 4: 63,883,841 (GRCm39) R1868H probably benign Het
Trappc10 A G 10: 78,024,665 (GRCm39) Y1155H probably benign Het
Trpm2 T A 10: 77,750,574 (GRCm39) N1341Y probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Zfand1 T G 3: 10,411,236 (GRCm39) K67T probably benign Het
Zfand4 A C 6: 116,305,214 (GRCm39) K214Q probably benign Het
Zfp653 A T 9: 21,968,668 (GRCm39) V465E probably damaging 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
IGL02485:Zswim8 APN 14 20,761,955 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- GTCCCAAGTCCCTATGAGTTATCC -3'
(R):5'- AAGGAAGCTCTCACTTGGGG -3'

Sequencing Primer
(F):5'- AATGATAGTGGTGTCTGTAACCAG -3'
(R):5'- CTCACTTGGGGTGGGGAATAG -3'
Posted On 2018-08-29