Incidental Mutation 'R1389:Zswim8'
ID 162556
Institutional Source Beutler Lab
Gene Symbol Zswim8
Ensembl Gene ENSMUSG00000021819
Gene Name zinc finger SWIM-type containing 8
Synonyms 2310021P13Rik, 4832404P21Rik
MMRRC Submission 039451-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R1389 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 20757620-20773687 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 20760816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 30 (R30L)
Ref Sequence ENSEMBL: ENSMUSP00000153700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022358] [ENSMUST00000223840] [ENSMUST00000224129] [ENSMUST00000224751]
AlphaFold Q3UHH1
Predicted Effect probably damaging
Transcript: ENSMUST00000022358
AA Change: R107L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022358
Gene: ENSMUSG00000021819
AA Change: R107L

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: R107L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000224129
AA Change: R30L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224165
Predicted Effect probably damaging
Transcript: ENSMUST00000224751
AA Change: R107L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225715
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225332
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 A G 10: 85,476,460 (GRCm39) T914A possibly damaging Het
Acsl3 A C 1: 78,665,999 (GRCm39) I142L probably benign Het
Adgra2 C T 8: 27,601,116 (GRCm39) P252L probably damaging Het
Akap6 A G 12: 53,186,303 (GRCm39) E1239G probably benign Het
Arhgef17 TGGAGGAGGAGGAGGAGG TGGAGGAGGAGGAGG 7: 100,580,244 (GRCm39) probably benign Het
Calml4 A T 9: 62,778,548 (GRCm39) D12V probably damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Ccar2 C A 14: 70,377,558 (GRCm39) V699L possibly damaging Het
Ccdc27 T C 4: 154,126,226 (GRCm39) M88V unknown Het
Ceacam15 T C 7: 16,405,988 (GRCm39) R188G probably damaging Het
Dcaf8 G A 1: 172,001,619 (GRCm39) R272H probably benign Het
Dchs1 A G 7: 105,404,778 (GRCm39) V2588A probably benign Het
Dst G A 1: 34,250,313 (GRCm39) R1749H probably damaging Het
Exog A G 9: 119,291,572 (GRCm39) Q283R probably benign Het
Fmnl1 A T 11: 103,077,535 (GRCm39) probably null Het
Gramd1c T C 16: 43,811,085 (GRCm39) D213G probably damaging Het
Iqgap1 A G 7: 80,409,504 (GRCm39) probably null Het
Itgae A G 11: 73,016,188 (GRCm39) Y799C probably damaging Het
Kalrn T C 16: 33,809,173 (GRCm39) I903V probably benign Het
Kcnh1 A G 1: 192,188,071 (GRCm39) E844G probably benign Het
Khdc1a A T 1: 21,420,251 (GRCm39) D3V probably damaging Het
Ly6g T C 15: 75,028,615 (GRCm39) F25S probably benign Het
Mapk1ip1 G A 7: 138,438,456 (GRCm39) probably benign Het
Mfsd3 A G 15: 76,586,889 (GRCm39) H243R probably benign Het
Mms22l T A 4: 24,591,076 (GRCm39) Y1016N probably damaging Het
Mrgprb5 A T 7: 47,818,078 (GRCm39) V219E probably damaging Het
Nars2 G A 7: 96,652,036 (GRCm39) S209N probably benign Het
Nckap5 T C 1: 125,954,447 (GRCm39) T702A probably damaging Het
Or1e26 T C 11: 73,480,369 (GRCm39) N65S possibly damaging Het
Paf1 A G 7: 28,098,257 (GRCm39) probably benign Het
Prl3d1 A T 13: 27,282,693 (GRCm39) R145* probably null Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Rnf13 T A 3: 57,686,917 (GRCm39) N103K probably damaging Het
Senp1 T C 15: 97,973,734 (GRCm39) S170G probably benign Het
Slc46a2 A G 4: 59,914,620 (GRCm39) L101P probably damaging Het
Tmem123 C T 9: 7,791,107 (GRCm39) T136M probably damaging Het
Tpo T A 12: 30,153,109 (GRCm39) H415L probably damaging Het
Vipr2 A G 12: 116,100,950 (GRCm39) I255V probably benign Het
Zc3h11a A T 1: 133,561,541 (GRCm39) V310E probably damaging Het
Zfp3 T A 11: 70,663,462 (GRCm39) C474S probably damaging Het
Zfp707 T A 15: 75,846,465 (GRCm39) C99S probably damaging Het
Zranb1 C T 7: 132,573,062 (GRCm39) P410S 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
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
Predicted Primers PCR Primer
(F):5'- GGGTGTGGCACTGGTTCCAAATAA -3'
(R):5'- GCCATTGGCTAGGCATGAATACAGA -3'

Sequencing Primer
(F):5'- ATTGGTGGAGCTGTCAGCAA -3'
(R):5'- TTAGCACTCCTTAGGAGAAAGC -3'
Posted On 2014-03-17