Incidental Mutation 'R4933:Zswim2'
ID 380697
Institutional Source Beutler Lab
Gene Symbol Zswim2
Ensembl Gene ENSMUSG00000034552
Gene Name zinc finger SWIM-type containing 2
Synonyms 4933437F18Rik, MEX, 1700025P14Rik
MMRRC Submission 042533-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R4933 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 83745423-83771572 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83755571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 110 (L110P)
Ref Sequence ENSEMBL: ENSMUSP00000119439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038223] [ENSMUST00000152829]
AlphaFold Q9D9X6
Predicted Effect probably damaging
Transcript: ENSMUST00000038223
AA Change: L110P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044913
Gene: ENSMUSG00000034552
AA Change: L110P

DomainStartEndE-ValueType
Pfam:SWIM 54 87 1.4e-7 PFAM
RING 147 198 8.3e-5 SMART
ZnF_ZZ 229 273 1.8e-5 SMART
RING 344 385 1.3e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000152829
AA Change: L110P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119439
Gene: ENSMUSG00000034552
AA Change: L110P

DomainStartEndE-ValueType
Pfam:SWIM 54 87 1.6e-10 PFAM
RING 147 198 1.69e-2 SMART
ZnF_ZZ 229 273 3.65e-3 SMART
Blast:RING 344 365 3e-6 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155127
Meta Mutation Damage Score 0.5935 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
Validation Efficiency 97% (73/75)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik A G 7: 41,276,226 (GRCm39) E643G probably damaging Het
Abca2 T C 2: 25,334,839 (GRCm39) V1937A probably benign Het
Acot10 A T 15: 20,666,416 (GRCm39) N108K possibly damaging Het
Agtpbp1 A T 13: 59,648,386 (GRCm39) M478K probably benign Het
Akirin1 G A 4: 123,630,651 (GRCm39) S191F probably damaging Het
Aoc1l3 T C 6: 48,964,426 (GRCm39) S145P probably damaging Het
Aurkb T C 11: 68,938,970 (GRCm39) probably benign Het
Cabyr T C 18: 12,877,549 (GRCm39) probably benign Het
Ccp110 A G 7: 118,324,542 (GRCm39) E688G probably damaging Het
Champ1 T A 8: 13,929,137 (GRCm39) S432T probably benign Het
Crybg1 T A 10: 43,875,209 (GRCm39) N633I probably damaging Het
Dagla A T 19: 10,247,079 (GRCm39) probably null Het
Dkkl1 A T 7: 44,860,949 (GRCm39) L10Q probably null Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Fndc7 G T 3: 108,783,986 (GRCm39) Q208K probably benign Het
Gins4 A T 8: 23,724,796 (GRCm39) C53S probably damaging Het
Gja8 T A 3: 96,826,351 (GRCm39) probably benign Het
Golph3l T A 3: 95,524,734 (GRCm39) N328K probably benign Het
Haus6 A C 4: 86,503,524 (GRCm39) probably benign Het
Hdac5 A G 11: 102,091,389 (GRCm39) probably benign Het
Ide A G 19: 37,255,155 (GRCm39) Y883H unknown Het
Igf2r A G 17: 12,910,764 (GRCm39) probably null Het
Kdm3b T C 18: 34,943,446 (GRCm39) Y723H probably damaging Het
Kif21b G A 1: 136,079,063 (GRCm39) probably null Het
Lancl1 A T 1: 67,060,193 (GRCm39) N77K probably benign Het
Lyst T A 13: 13,812,349 (GRCm39) N920K probably damaging Het
Lyst G A 13: 13,933,963 (GRCm39) V3554I probably benign Het
Map1a G A 2: 121,136,386 (GRCm39) A2163T probably damaging Het
Mapk7 G T 11: 61,384,734 (GRCm39) probably benign Het
Myo10 C A 15: 25,781,204 (GRCm39) Q154K probably damaging Het
Or2a7 C T 6: 43,151,255 (GRCm39) L112F probably benign Het
Or2h15 A G 17: 38,441,441 (GRCm39) I214T probably damaging Het
Pcdhgb2 G A 18: 37,825,267 (GRCm39) V753M probably benign Het
Pnn T A 12: 59,117,013 (GRCm39) L195Q probably damaging Het
Pot1a A G 6: 25,771,540 (GRCm39) V227A possibly damaging Het
Ppp1r21 T A 17: 88,855,049 (GRCm39) D109E probably benign Het
Prr15l G A 11: 96,825,588 (GRCm39) G73S probably damaging Het
Rnf148 A G 6: 23,654,339 (GRCm39) F219S probably benign Het
Rnpep C A 1: 135,194,764 (GRCm39) probably benign Het
Ryr1 T C 7: 28,803,723 (GRCm39) T643A probably damaging Het
Ryr2 A T 13: 11,960,831 (GRCm39) C36S probably damaging Het
Shc3 G T 13: 51,596,805 (GRCm39) T406N probably benign Het
Slit3 G T 11: 35,579,420 (GRCm39) G1199V probably damaging Het
Spata6l G T 19: 28,919,175 (GRCm39) H195N possibly damaging Het
Sptbn5 G A 2: 119,880,601 (GRCm39) noncoding transcript Het
St8sia6 T C 2: 13,670,253 (GRCm39) N236D probably damaging Het
Stpg1 A T 4: 135,233,727 (GRCm39) Q3L probably benign Het
Sult3a1 T A 10: 33,742,550 (GRCm39) I59N probably damaging Het
Vmn1r208 T G 13: 22,956,958 (GRCm39) I180L probably benign Het
Vmn2r51 A T 7: 9,832,247 (GRCm39) N446K probably damaging Het
Vmn2r63 A T 7: 42,553,402 (GRCm39) I618N probably damaging Het
Wrn T C 8: 33,812,371 (GRCm39) N182S probably benign Het
Zfp296 G T 7: 19,313,637 (GRCm39) C164F possibly damaging Het
Zfp764l1 A G 7: 126,992,521 (GRCm39) Y30H probably damaging Het
Zmynd8 A G 2: 165,676,871 (GRCm39) V249A possibly damaging Het
Other mutations in Zswim2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00844:Zswim2 APN 2 83,754,115 (GRCm39) missense probably benign 0.00
IGL01140:Zswim2 APN 2 83,745,672 (GRCm39) missense probably benign 0.06
IGL01362:Zswim2 APN 2 83,745,690 (GRCm39) missense probably benign 0.09
IGL01768:Zswim2 APN 2 83,748,301 (GRCm39) missense probably benign 0.00
IGL02166:Zswim2 APN 2 83,745,750 (GRCm39) nonsense probably null
IGL02187:Zswim2 APN 2 83,753,982 (GRCm39) missense probably damaging 0.98
IGL02239:Zswim2 APN 2 83,769,107 (GRCm39) nonsense probably null
IGL02629:Zswim2 APN 2 83,755,553 (GRCm39) missense possibly damaging 0.94
R0609:Zswim2 UTSW 2 83,754,003 (GRCm39) missense probably benign 0.02
R0943:Zswim2 UTSW 2 83,748,342 (GRCm39) missense possibly damaging 0.88
R0946:Zswim2 UTSW 2 83,754,103 (GRCm39) missense probably benign 0.10
R1006:Zswim2 UTSW 2 83,745,737 (GRCm39) missense probably damaging 0.97
R1191:Zswim2 UTSW 2 83,754,039 (GRCm39) missense possibly damaging 0.60
R1309:Zswim2 UTSW 2 83,769,100 (GRCm39) missense probably damaging 1.00
R1549:Zswim2 UTSW 2 83,754,092 (GRCm39) missense probably benign 0.24
R1563:Zswim2 UTSW 2 83,745,626 (GRCm39) missense possibly damaging 0.71
R1739:Zswim2 UTSW 2 83,745,684 (GRCm39) nonsense probably null
R1994:Zswim2 UTSW 2 83,746,007 (GRCm39) missense possibly damaging 0.95
R4039:Zswim2 UTSW 2 83,746,338 (GRCm39) missense probably damaging 1.00
R4645:Zswim2 UTSW 2 83,745,891 (GRCm39) missense probably benign 0.00
R4738:Zswim2 UTSW 2 83,745,739 (GRCm39) missense probably benign 0.16
R4855:Zswim2 UTSW 2 83,747,187 (GRCm39) critical splice donor site probably null
R4963:Zswim2 UTSW 2 83,755,454 (GRCm39) missense probably damaging 1.00
R5153:Zswim2 UTSW 2 83,770,010 (GRCm39) missense possibly damaging 0.75
R5401:Zswim2 UTSW 2 83,755,589 (GRCm39) missense possibly damaging 0.94
R5698:Zswim2 UTSW 2 83,755,527 (GRCm39) missense possibly damaging 0.92
R6002:Zswim2 UTSW 2 83,746,032 (GRCm39) missense probably damaging 0.98
R6396:Zswim2 UTSW 2 83,754,062 (GRCm39) missense probably damaging 1.00
R6447:Zswim2 UTSW 2 83,745,457 (GRCm39) splice site probably null
R6646:Zswim2 UTSW 2 83,746,128 (GRCm39) nonsense probably null
R6717:Zswim2 UTSW 2 83,745,753 (GRCm39) missense probably benign 0.02
R6735:Zswim2 UTSW 2 83,754,105 (GRCm39) missense probably benign 0.04
R6830:Zswim2 UTSW 2 83,770,028 (GRCm39) missense probably damaging 1.00
R7056:Zswim2 UTSW 2 83,751,092 (GRCm39) critical splice acceptor site probably null
R7088:Zswim2 UTSW 2 83,746,071 (GRCm39) nonsense probably null
R7383:Zswim2 UTSW 2 83,745,672 (GRCm39) missense possibly damaging 0.95
R7440:Zswim2 UTSW 2 83,751,063 (GRCm39) missense probably damaging 1.00
R7747:Zswim2 UTSW 2 83,745,951 (GRCm39) missense probably damaging 0.97
R7955:Zswim2 UTSW 2 83,747,227 (GRCm39) missense probably benign 0.00
R7983:Zswim2 UTSW 2 83,753,911 (GRCm39) critical splice donor site probably null
R8765:Zswim2 UTSW 2 83,771,431 (GRCm39) missense probably damaging 1.00
R9295:Zswim2 UTSW 2 83,748,304 (GRCm39) missense probably benign 0.00
R9465:Zswim2 UTSW 2 83,746,275 (GRCm39) missense probably benign 0.21
X0018:Zswim2 UTSW 2 83,771,438 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GAATTTCATGATGGAACTTCCTAGG -3'
(R):5'- CAGAACAGTCCACCTGGTAC -3'

Sequencing Primer
(F):5'- CTTTAGAGTACAAAAGCATCACCTG -3'
(R):5'- GAACAGTCCACCTGGTACTATCTC -3'
Posted On 2016-04-15