Incidental Mutation 'R4039:Zswim2'
ID 313825
Institutional Source Beutler Lab
Gene Symbol Zswim2
Ensembl Gene ENSMUSG00000034552
Gene Name zinc finger SWIM-type containing 2
Synonyms 4933437F18Rik, MEX, 1700025P14Rik
MMRRC Submission 041614-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R4039 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 83745423-83771572 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 83746338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 367 (H367Y)
Ref Sequence ENSEMBL: ENSMUSP00000044913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038223] [ENSMUST00000152829]
AlphaFold Q9D9X6
Predicted Effect probably damaging
Transcript: ENSMUST00000038223
AA Change: H367Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044913
Gene: ENSMUSG00000034552
AA Change: H367Y

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 benign
Transcript: ENSMUST00000152829
SMART Domains Protein: ENSMUSP00000119439
Gene: ENSMUSG00000034552

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
Meta Mutation Damage Score 0.4959 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik A T 15: 59,888,215 (GRCm39) L75Q possibly damaging Het
Cep290 T C 10: 100,348,263 (GRCm39) probably null Het
Col11a2 A G 17: 34,264,748 (GRCm39) T268A probably benign Het
Crnkl1 T A 2: 145,774,247 (GRCm39) D72V possibly damaging Het
Csn2 C T 5: 87,845,935 (GRCm39) M1I probably null Het
Dhcr24 T C 4: 106,431,075 (GRCm39) F255L probably benign Het
Epn2 A G 11: 61,437,348 (GRCm39) Y75H probably damaging Het
Galnt3 A T 2: 65,915,671 (GRCm39) H563Q probably damaging Het
Galnt9 T C 5: 110,762,074 (GRCm39) V37A probably damaging Het
Glb1l3 A C 9: 26,740,343 (GRCm39) M329R probably damaging Het
Gorab A T 1: 163,224,635 (GRCm39) D55E possibly damaging Het
Herc2 G A 7: 55,806,159 (GRCm39) R2318Q probably damaging Het
Hspa2 T C 12: 76,452,542 (GRCm39) V412A probably damaging Het
Hspb8 A G 5: 116,547,403 (GRCm39) V193A probably benign Het
Ly75 A G 2: 60,183,339 (GRCm39) L481P probably damaging Het
Lyzl1 T C 18: 4,169,140 (GRCm39) L48P probably damaging Het
Mettl27 C T 5: 134,969,463 (GRCm39) Q212* probably null Het
Mmachc T A 4: 116,563,215 (GRCm39) T47S probably damaging Het
Ncam2 C T 16: 81,287,211 (GRCm39) S375L probably benign Het
Ogfrl1 T C 1: 23,418,045 (GRCm39) probably benign Het
Parp9 T C 16: 35,780,417 (GRCm39) L461P probably damaging Het
Pcsk7 A G 9: 45,839,305 (GRCm39) probably null Het
Plekhh1 C A 12: 79,101,957 (GRCm39) H342Q probably benign Het
Prdm13 T G 4: 21,685,774 (GRCm39) probably benign Het
Prkaa2 T C 4: 104,908,444 (GRCm39) N144D probably damaging Het
Ptpn12 A T 5: 21,207,508 (GRCm39) Y283* probably null Het
Rab12 T C 17: 66,807,396 (GRCm39) Y111C possibly damaging Het
Ralgapa1 T C 12: 55,842,486 (GRCm39) N61S probably damaging Het
Rims1 T C 1: 22,514,793 (GRCm39) S537G probably damaging Het
Sash1 G T 10: 8,605,391 (GRCm39) P1000T probably damaging Het
Skint5 G T 4: 113,743,011 (GRCm39) T352K unknown Het
Slc12a5 A G 2: 164,834,250 (GRCm39) E757G probably benign Het
Sycp2 C A 2: 178,022,720 (GRCm39) M470I possibly damaging Het
Szt2 T C 4: 118,222,149 (GRCm39) probably benign Het
Tbc1d1 A G 5: 64,473,771 (GRCm39) T765A probably damaging Het
Tgfbr2 T C 9: 116,004,105 (GRCm39) M1V probably null Het
Tnfrsf11a A G 1: 105,755,464 (GRCm39) probably null Het
Trim43b A G 9: 88,973,400 (GRCm39) L111P probably damaging Het
Ttbk2 A T 2: 120,576,276 (GRCm39) S900R probably benign Het
Unc79 G A 12: 103,041,208 (GRCm39) C747Y possibly damaging Het
Vmn1r218 T C 13: 23,320,971 (GRCm39) V26A possibly damaging Het
Vmn2r115 A T 17: 23,564,077 (GRCm39) Y83F probably benign Het
Zfp536 A T 7: 37,268,975 (GRCm39) L147Q probably damaging Het
Zfp931 T A 2: 177,709,777 (GRCm39) Q203L 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
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
R4933:Zswim2 UTSW 2 83,755,571 (GRCm39) missense probably damaging 1.00
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'- AAAAGTTTTGGCTCTTGCTGC -3'
(R):5'- TATCAAAGCCAGGAAGGTGATTAC -3'

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