Incidental Mutation 'R4044:Zswim5'
ID 313976
Institutional Source Beutler Lab
Gene Symbol Zswim5
Ensembl Gene ENSMUSG00000033948
Gene Name zinc finger SWIM-type containing 5
Synonyms 4933426E21Rik
MMRRC Submission 040967-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4044 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 116734573-116846461 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116843899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 979 (D979G)
Ref Sequence ENSEMBL: ENSMUSP00000049474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030446] [ENSMUST00000044823] [ENSMUST00000130273]
AlphaFold Q80TC6
Predicted Effect probably benign
Transcript: ENSMUST00000030446
SMART Domains Protein: ENSMUSP00000030446
Gene: ENSMUSG00000028684

DomainStartEndE-ValueType
Pfam:URO-D 14 360 2.4e-135 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000044823
AA Change: D979G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049474
Gene: ENSMUSG00000033948
AA Change: D979G

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 probably benign
Transcript: ENSMUST00000130273
SMART Domains Protein: ENSMUSP00000116154
Gene: ENSMUSG00000028684

DomainStartEndE-ValueType
Pfam:URO-D 1 64 1.2e-18 PFAM
Pfam:URO-D 60 120 4e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134598
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150370
Meta Mutation Damage Score 0.3203 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579C12Rik T A 9: 89,044,347 (GRCm39) noncoding transcript Het
Ada A T 2: 163,577,380 (GRCm39) I36N probably damaging Het
Armh3 A T 19: 45,808,763 (GRCm39) Y643N probably damaging Het
Atg7 T C 6: 114,678,939 (GRCm39) V384A probably benign Het
Ccl1 T A 11: 82,070,519 (GRCm39) I18L probably benign Het
Cep70 T A 9: 99,144,662 (GRCm39) C66S possibly damaging Het
D16Ertd472e A T 16: 78,372,894 (GRCm39) D14E probably damaging Het
Dnah9 T C 11: 66,024,461 (GRCm39) K278E probably benign Het
Dsg1a C A 18: 20,457,087 (GRCm39) N153K probably damaging Het
Galnt5 T A 2: 57,888,472 (GRCm39) I24N probably damaging Het
Grid1 A T 14: 35,172,358 (GRCm39) probably benign Het
Gtf2a1 T C 12: 91,542,441 (GRCm39) H47R probably benign Het
Igf1r A G 7: 67,839,810 (GRCm39) T706A possibly damaging Het
Itih4 A T 14: 30,616,995 (GRCm39) N517I probably damaging Het
Jam3 C A 9: 27,013,159 (GRCm39) probably null Het
Katnip A G 7: 125,467,913 (GRCm39) I1366V probably benign Het
Klk1b4 A G 7: 43,860,179 (GRCm39) M98V probably benign Het
Kndc1 A G 7: 139,504,044 (GRCm39) E1116G probably benign Het
Ksr2 C T 5: 117,693,127 (GRCm39) R192* probably null Het
L3mbtl4 T C 17: 69,084,909 (GRCm39) S607P possibly damaging Het
Map6 T C 7: 98,917,256 (GRCm39) C10R probably damaging Het
Myo3a A G 2: 22,467,712 (GRCm39) E322G probably damaging Het
Nell1 A G 7: 49,869,367 (GRCm39) N214S probably damaging Het
Npm3 T C 19: 45,736,692 (GRCm39) E149G possibly damaging Het
Or4k35 C T 2: 111,099,927 (GRCm39) V262I probably benign Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Orc3 G A 4: 34,587,055 (GRCm39) Q345* probably null Het
Otol1 A G 3: 69,935,112 (GRCm39) D368G probably damaging Het
Pals1 G A 12: 78,871,613 (GRCm39) E398K probably benign Het
Pramel26 T A 4: 143,538,170 (GRCm39) N267I probably benign Het
Prss40 G T 1: 34,599,960 (GRCm39) S9* probably null Het
Radx C T X: 138,407,752 (GRCm39) S364L probably damaging Het
Reln A T 5: 22,333,630 (GRCm39) V264D possibly damaging Het
Rpp40 A G 13: 36,082,549 (GRCm39) C275R probably benign Het
Scaf1 G A 7: 44,655,798 (GRCm39) probably benign Het
Sncaip A G 18: 53,040,475 (GRCm39) T890A probably benign Het
Spata6l A T 19: 28,923,183 (GRCm39) C80S possibly damaging Het
Thada A G 17: 84,749,135 (GRCm39) V612A probably benign Het
Tsnaxip1 G A 8: 106,560,177 (GRCm39) probably null Het
Vcan T A 13: 89,840,662 (GRCm39) L1627F probably benign Het
Vrtn T C 12: 84,695,844 (GRCm39) I198T probably damaging Het
Wnt9b T C 11: 103,622,824 (GRCm39) D193G probably damaging Het
Znrd2 T C 19: 5,780,431 (GRCm39) E189G probably 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
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'- AGAGCTGGTACACACTCTTCAC -3'
(R):5'- ACATCATTGATGGCTGGATGGG -3'

Sequencing Primer
(F):5'- CCCGACTGAGGCTACAAGTATTG -3'
(R):5'- ATGGCTGGATGGGTGTCC -3'
Posted On 2015-04-30