Incidental Mutation 'R6442:Zswim5'
ID 519050
Institutional Source Beutler Lab
Gene Symbol Zswim5
Ensembl Gene ENSMUSG00000033948
Gene Name zinc finger SWIM-type containing 5
Synonyms 4933426E21Rik
MMRRC Submission 044580-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6442 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 116734573-116846461 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 116808202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 262 (P262Q)
Ref Sequence ENSEMBL: ENSMUSP00000049474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044823]
AlphaFold Q80TC6
Predicted Effect probably damaging
Transcript: ENSMUST00000044823
AA Change: P262Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049474
Gene: ENSMUSG00000033948
AA Change: P262Q

DomainStartEndE-ValueType
low complexity region 35 56 N/A INTRINSIC
low complexity region 119 182 N/A INTRINSIC
low complexity region 692 708 N/A INTRINSIC
low complexity region 982 995 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122445
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp9a T C 2: 168,491,481 (GRCm39) T695A probably benign Het
Btla A G 16: 45,044,821 (GRCm39) N36D probably benign Het
Btla T C 16: 45,070,713 (GRCm39) V224A possibly damaging Het
Cep126 T C 9: 8,100,564 (GRCm39) N657D probably benign Het
Cops3 T A 11: 59,718,780 (GRCm39) K171N probably benign Het
Crocc2 A G 1: 93,112,775 (GRCm39) R193G probably benign Het
Dis3l T C 9: 64,214,837 (GRCm39) I911V probably benign Het
Dpp6 G A 5: 27,923,507 (GRCm39) probably null Het
Efcab5 A T 11: 76,996,260 (GRCm39) Y1100* probably null Het
Fcgbpl1 C T 7: 27,843,611 (GRCm39) T833I possibly damaging Het
Galnt10 A G 11: 57,656,448 (GRCm39) T211A probably benign Het
Gdf9 A G 11: 53,324,515 (GRCm39) T95A probably benign Het
Gm826 T A 2: 160,169,328 (GRCm39) probably benign Het
Hsd17b6 C T 10: 127,829,636 (GRCm39) probably null Het
Hyal4 A G 6: 24,765,849 (GRCm39) N401S probably benign Het
Itga8 C T 2: 12,234,954 (GRCm39) V435I probably benign Het
Nr1h5 G A 3: 102,848,427 (GRCm39) P418L probably damaging Het
Or3a4 G A 11: 73,945,505 (GRCm39) R27W probably benign Het
Or4f15 G A 2: 111,813,874 (GRCm39) P182S probably damaging Het
Or4n4 T G 14: 50,518,826 (GRCm39) K295Q probably damaging Het
Or6c214 C A 10: 129,591,277 (GRCm39) G14V probably damaging Het
Or9i14 T C 19: 13,792,992 (GRCm39) probably benign Het
Prdm11 G A 2: 92,805,990 (GRCm39) A320V probably benign Het
Ptpn5 T C 7: 46,732,831 (GRCm39) probably null Het
Reln T A 5: 22,137,774 (GRCm39) I2473L probably benign Het
Rmnd5a A T 6: 71,371,659 (GRCm39) C180* probably null Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Sapcd2 T A 2: 25,266,134 (GRCm39) probably benign Het
Sec24b A G 3: 129,790,350 (GRCm39) L462S probably damaging Het
Slc26a9 A T 1: 131,686,555 (GRCm39) Y425F possibly damaging Het
Sult1b1 T C 5: 87,682,912 (GRCm39) D11G probably benign Het
Tgs1 T A 4: 3,604,760 (GRCm39) Y727* probably null Het
Tmem80 T C 7: 140,915,839 (GRCm39) V83A probably benign Het
Ttn T C 2: 76,551,978 (GRCm39) T31220A probably benign Het
Usp46 A T 5: 74,177,377 (GRCm39) D167E probably benign Het
Vmn2r67 T A 7: 84,805,046 (GRCm39) D22V possibly damaging Het
Other mutations in Zswim5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00753:Zswim5 APN 4 116,842,933 (GRCm39) missense possibly damaging 0.93
IGL01700:Zswim5 APN 4 116,843,658 (GRCm39) unclassified probably benign
IGL01975:Zswim5 APN 4 116,822,889 (GRCm39) missense probably benign 0.03
IGL02334:Zswim5 APN 4 116,843,841 (GRCm39) missense probably damaging 1.00
IGL02505:Zswim5 APN 4 116,819,749 (GRCm39) missense probably benign 0.43
IGL02712:Zswim5 APN 4 116,842,892 (GRCm39) missense probably damaging 0.99
PIT4243001:Zswim5 UTSW 4 116,841,975 (GRCm39) missense probably benign 0.10
R0324:Zswim5 UTSW 4 116,844,103 (GRCm39) missense probably damaging 1.00
R0611:Zswim5 UTSW 4 116,843,874 (GRCm39) splice site probably null
R0730:Zswim5 UTSW 4 116,842,943 (GRCm39) missense possibly damaging 0.75
R1663:Zswim5 UTSW 4 116,844,092 (GRCm39) missense probably damaging 1.00
R1843:Zswim5 UTSW 4 116,734,896 (GRCm39) missense unknown
R2070:Zswim5 UTSW 4 116,837,109 (GRCm39) missense probably benign 0.14
R2176:Zswim5 UTSW 4 116,830,238 (GRCm39) missense probably damaging 0.99
R3715:Zswim5 UTSW 4 116,819,755 (GRCm39) missense probably benign 0.21
R4044:Zswim5 UTSW 4 116,843,899 (GRCm39) missense probably damaging 1.00
R4063:Zswim5 UTSW 4 116,735,177 (GRCm39) missense unknown
R4118:Zswim5 UTSW 4 116,844,016 (GRCm39) missense possibly damaging 0.93
R4612:Zswim5 UTSW 4 116,843,901 (GRCm39) missense probably damaging 1.00
R4782:Zswim5 UTSW 4 116,830,169 (GRCm39) missense probably benign 0.00
R4799:Zswim5 UTSW 4 116,830,169 (GRCm39) missense probably benign 0.00
R4983:Zswim5 UTSW 4 116,842,883 (GRCm39) missense possibly damaging 0.60
R5294:Zswim5 UTSW 4 116,836,774 (GRCm39) missense possibly damaging 0.93
R5836:Zswim5 UTSW 4 116,842,000 (GRCm39) missense probably benign 0.27
R6025:Zswim5 UTSW 4 116,808,106 (GRCm39) missense probably damaging 1.00
R6041:Zswim5 UTSW 4 116,819,818 (GRCm39) missense probably benign 0.01
R6042:Zswim5 UTSW 4 116,819,818 (GRCm39) missense probably benign 0.01
R6043:Zswim5 UTSW 4 116,819,818 (GRCm39) missense probably benign 0.01
R6159:Zswim5 UTSW 4 116,836,876 (GRCm39) missense probably damaging 1.00
R6198:Zswim5 UTSW 4 116,735,204 (GRCm39) missense probably benign 0.13
R6415:Zswim5 UTSW 4 116,838,063 (GRCm39) missense possibly damaging 0.89
R6547:Zswim5 UTSW 4 116,844,100 (GRCm39) missense probably damaging 1.00
R6616:Zswim5 UTSW 4 116,843,938 (GRCm39) missense possibly damaging 0.93
R6745:Zswim5 UTSW 4 116,832,401 (GRCm39) missense probably damaging 1.00
R7144:Zswim5 UTSW 4 116,833,173 (GRCm39) critical splice donor site probably null
R7260:Zswim5 UTSW 4 116,819,843 (GRCm39) missense probably damaging 1.00
R7300:Zswim5 UTSW 4 116,833,102 (GRCm39) missense probably damaging 1.00
R7310:Zswim5 UTSW 4 116,841,885 (GRCm39) missense probably benign 0.01
R7326:Zswim5 UTSW 4 116,838,031 (GRCm39) missense possibly damaging 0.75
R7429:Zswim5 UTSW 4 116,833,054 (GRCm39) missense possibly damaging 0.87
R7430:Zswim5 UTSW 4 116,833,054 (GRCm39) missense possibly damaging 0.87
R7607:Zswim5 UTSW 4 116,843,939 (GRCm39) missense possibly damaging 0.93
R7811:Zswim5 UTSW 4 116,734,673 (GRCm39) missense unknown
R7993:Zswim5 UTSW 4 116,808,291 (GRCm39) missense probably benign 0.10
R8221:Zswim5 UTSW 4 116,735,219 (GRCm39) missense probably benign 0.09
R8341:Zswim5 UTSW 4 116,843,989 (GRCm39) missense probably damaging 1.00
R8433:Zswim5 UTSW 4 116,844,007 (GRCm39) missense possibly damaging 0.90
R8690:Zswim5 UTSW 4 116,842,002 (GRCm39) missense probably damaging 1.00
R8766:Zswim5 UTSW 4 116,816,004 (GRCm39) missense probably damaging 1.00
R8808:Zswim5 UTSW 4 116,822,887 (GRCm39) missense probably benign 0.34
R9175:Zswim5 UTSW 4 116,822,941 (GRCm39) missense probably benign 0.38
R9354:Zswim5 UTSW 4 116,844,232 (GRCm39) missense probably damaging 1.00
R9639:Zswim5 UTSW 4 116,836,714 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGAGACTCTCTAAGCAGGATG -3'
(R):5'- CCATTCACTTGGTTGATTTCTGAG -3'

Sequencing Primer
(F):5'- TAGGCTTCCATCTGAGTGGCAC -3'
(R):5'- TCTGAGTTGGAGGACAGAATCTCATC -3'
Posted On 2018-05-24