Incidental Mutation 'R2070:Zswim5'
ID 227029
Institutional Source Beutler Lab
Gene Symbol Zswim5
Ensembl Gene ENSMUSG00000033948
Gene Name zinc finger SWIM-type containing 5
Synonyms 4933426E21Rik
MMRRC Submission 040075-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2070 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 116734573-116846461 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116837109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 731 (V731A)
Ref Sequence ENSEMBL: ENSMUSP00000049474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044823]
AlphaFold Q80TC6
Predicted Effect probably benign
Transcript: ENSMUST00000044823
AA Change: V731A

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000049474
Gene: ENSMUSG00000033948
AA Change: V731A

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik A G 11: 58,767,595 (GRCm39) K31E probably damaging Het
Abcc10 G C 17: 46,614,491 (GRCm39) N1477K probably benign Het
Ablim2 G A 5: 35,955,857 (GRCm39) C24Y probably damaging Het
Ankle1 T C 8: 71,861,988 (GRCm39) F497S probably damaging Het
Armh3 G T 19: 45,879,724 (GRCm39) P543Q probably damaging Het
Ash1l C G 3: 88,873,510 (GRCm39) P98A probably damaging Het
Atad5 A T 11: 79,988,878 (GRCm39) probably null Het
B3gnt4 A T 5: 123,649,433 (GRCm39) H266L probably benign Het
Bmi1 A G 2: 18,688,851 (GRCm39) I207V probably benign Het
Bnip3l A G 14: 67,226,671 (GRCm39) M174T probably damaging Het
Bora T C 14: 99,299,714 (GRCm39) S229P probably damaging Het
Ccdc121 T C 5: 31,644,727 (GRCm39) V160A possibly damaging Het
Ccdc27 T A 4: 154,126,270 (GRCm39) N73I unknown Het
Cdc42bpg T A 19: 6,370,518 (GRCm39) C1204S probably damaging Het
Cdsn A T 17: 35,865,591 (GRCm39) D40V probably damaging Het
Cilp T A 9: 65,186,377 (GRCm39) V824D probably damaging Het
Cmtr1 A G 17: 29,913,757 (GRCm39) probably null Het
Cntnap1 A G 11: 101,073,805 (GRCm39) Y652C probably damaging Het
Col12a1 T C 9: 79,554,978 (GRCm39) I2033M probably benign Het
Cwh43 T C 5: 73,578,860 (GRCm39) L289P probably damaging Het
Ddhd1 T C 14: 45,848,081 (GRCm39) D529G probably damaging Het
Defb28 T A 2: 152,362,064 (GRCm39) S75T probably benign Het
Dennd2a A T 6: 39,442,053 (GRCm39) V939D probably damaging Het
Dlg5 T C 14: 24,186,703 (GRCm39) R1866G probably damaging Het
Dsc1 C T 18: 20,221,353 (GRCm39) probably null Het
Ecscr T G 18: 35,848,490 (GRCm39) N184T probably damaging Het
Eif4ebp1 G T 8: 27,763,372 (GRCm39) R55L probably damaging Het
Eml1 G T 12: 108,479,258 (GRCm39) V344L probably damaging Het
Exoc2 G T 13: 30,999,353 (GRCm39) N901K probably benign Het
Fam161b T A 12: 84,403,202 (GRCm39) I143F probably benign Het
Fam180a A G 6: 35,302,846 (GRCm39) S2P probably benign Het
Fat3 T A 9: 15,910,666 (GRCm39) I1779F probably benign Het
Fat4 A G 3: 39,064,804 (GRCm39) K4920R probably benign Het
Fsip2 T A 2: 82,806,699 (GRCm39) V1006E probably damaging Het
Glcci1 A G 6: 8,558,566 (GRCm39) S30G probably damaging Het
Gm5414 A T 15: 101,536,495 (GRCm39) S43R possibly damaging Het
Hao1 T C 2: 134,372,535 (GRCm39) T158A probably damaging Het
Hic1 T C 11: 75,059,885 (GRCm39) H154R possibly damaging Het
Hmgxb3 T C 18: 61,304,431 (GRCm39) Y53C probably damaging Het
Ipmk A T 10: 71,208,579 (GRCm39) K122* probably null Het
Jakmip2 T C 18: 43,696,395 (GRCm39) E518G probably benign Het
Kmt2e A G 5: 23,706,993 (GRCm39) T1519A probably benign Het
Lfng T C 5: 140,598,350 (GRCm39) I224T possibly damaging Het
Magel2 G A 7: 62,028,844 (GRCm39) V583I unknown Het
Map4k5 C T 12: 69,863,111 (GRCm39) V629I probably damaging Het
Med12l A G 3: 59,152,326 (GRCm39) D1037G probably damaging Het
Morc1 C T 16: 48,412,974 (GRCm39) T705I probably benign Het
Mptx2 A T 1: 173,102,145 (GRCm39) Y181* probably null Het
Mrpl24 T C 3: 87,830,374 (GRCm39) probably null Het
Myo5a A G 9: 75,089,266 (GRCm39) E1132G probably benign Het
Nedd4l T G 18: 65,345,891 (GRCm39) F814L probably damaging Het
Nmral1 T A 16: 4,534,211 (GRCm39) I77F probably damaging Het
Oit3 T G 10: 59,266,835 (GRCm39) I224L probably benign Het
Oxsm A G 14: 16,241,983 (GRCm38) L262P probably benign Het
Pacs2 C T 12: 113,024,731 (GRCm39) T407I probably damaging Het
Pard6g T C 18: 80,160,940 (GRCm39) I351T probably benign Het
Pdcl2 A T 5: 76,472,838 (GRCm39) probably null Het
Pdzph1 T C 17: 59,281,092 (GRCm39) R397G probably benign Het
Phip T A 9: 82,757,352 (GRCm39) I1607L probably benign Het
Plekhd1 C A 12: 80,739,681 (GRCm39) S10* probably null Het
Pramel24 T G 4: 143,453,472 (GRCm39) Y193* probably null Het
Prdm1 C T 10: 44,317,408 (GRCm39) D505N possibly damaging Het
Psmd13 T C 7: 140,477,561 (GRCm39) V320A probably damaging Het
Rbak A G 5: 143,162,339 (GRCm39) L8P probably damaging Het
Rere C A 4: 150,699,047 (GRCm39) probably benign Het
Rint1 T C 5: 24,015,927 (GRCm39) S456P possibly damaging Het
Scn3a T C 2: 65,351,210 (GRCm39) Q446R possibly damaging Het
Slitrk5 A G 14: 111,917,621 (GRCm39) Y415C probably damaging Het
Snrnp200 A G 2: 127,054,323 (GRCm39) E210G possibly damaging Het
Snrnp200 A G 2: 127,079,803 (GRCm39) T1891A probably benign Het
Sohlh2 A G 3: 55,115,043 (GRCm39) I343V probably benign Het
Spin1 T C 13: 51,298,573 (GRCm39) probably null Het
St14 T A 9: 31,002,669 (GRCm39) I745F probably damaging Het
Sv2a G A 3: 96,101,191 (GRCm39) A730T possibly damaging Het
Tars2 C A 3: 95,654,950 (GRCm39) G113C probably damaging Het
Tlcd3b T C 7: 126,419,012 (GRCm39) L4P probably benign Het
Trp53 A G 11: 69,480,458 (GRCm39) D278G probably damaging Het
Ubxn7 T A 16: 32,191,287 (GRCm39) C160S possibly damaging Het
Uty T C Y: 1,169,193 (GRCm39) E414G probably benign Het
Wrap73 T A 4: 154,233,200 (GRCm39) S125T possibly damaging Het
Wwc2 T C 8: 48,321,356 (GRCm39) D586G unknown Het
Zfp106 T C 2: 120,354,010 (GRCm39) H1490R probably benign Het
Zyg11b G C 4: 108,108,016 (GRCm39) N463K 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
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
R6442:Zswim5 UTSW 4 116,808,202 (GRCm39) missense probably damaging 1.00
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'- TACACAGGACTCTGGATTCCCC -3'
(R):5'- TGAACATATGGAGGCCCTGG -3'

Sequencing Primer
(F):5'- GATTCCCCTCTCTGACATAGCACAG -3'
(R):5'- AACATATGGAGGCCCTGGGTTTG -3'
Posted On 2014-09-17