Incidental Mutation 'R4396:Zswim1'
ID 325478
Institutional Source Beutler Lab
Gene Symbol Zswim1
Ensembl Gene ENSMUSG00000017764
Gene Name zinc finger SWIM-type containing 1
Synonyms 2410003H12Rik
MMRRC Submission 041129-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.128) question?
Stock # R4396 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 164664933-164668791 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 164667369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 207 (D207G)
Ref Sequence ENSEMBL: ENSMUSP00000017908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017908] [ENSMUST00000017911] [ENSMUST00000052107] [ENSMUST00000132282]
AlphaFold Q9CWV7
Predicted Effect probably damaging
Transcript: ENSMUST00000017908
AA Change: D207G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017908
Gene: ENSMUSG00000017764
AA Change: D207G

DomainStartEndE-ValueType
Pfam:SWIM 342 375 2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000017911
SMART Domains Protein: ENSMUSP00000017911
Gene: ENSMUSG00000017767

DomainStartEndE-ValueType
Pfam:SPATA25 1 226 3.2e-144 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052107
SMART Domains Protein: ENSMUSP00000050970
Gene: ENSMUSG00000045822

DomainStartEndE-ValueType
low complexity region 436 453 N/A INTRINSIC
low complexity region 474 489 N/A INTRINSIC
ZnF_PMZ 546 573 2.09e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132282
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141411
Meta Mutation Damage Score 0.3607 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 T C 7: 119,195,143 (GRCm39) F552L probably damaging Het
Actn2 A G 13: 12,325,765 (GRCm39) L70P probably damaging Het
Btbd7 A G 12: 102,751,552 (GRCm39) S1071P probably benign Het
Cd200r1 T A 16: 44,586,417 (GRCm39) W16R probably benign Het
Cdhr2 A G 13: 54,863,478 (GRCm39) N120D probably damaging Het
Col19a1 T C 1: 24,549,947 (GRCm39) T317A unknown Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dmbt1 T C 7: 130,718,361 (GRCm39) L1683P probably damaging Het
Dynll1 A T 5: 115,438,700 (GRCm39) C2S probably benign Het
Elp2 T A 18: 24,742,707 (GRCm39) S80T probably damaging Het
Fat1 T A 8: 45,405,383 (GRCm39) N711K probably damaging Het
Fzd3 A G 14: 65,473,054 (GRCm39) I238T probably damaging Het
Galnt7 A T 8: 57,991,215 (GRCm39) F432I probably damaging Het
Gemin5 T A 11: 58,030,375 (GRCm39) T817S probably benign Het
Gm5414 T G 15: 101,534,101 (GRCm39) E294A probably damaging Het
H2-T5 C A 17: 36,472,861 (GRCm39) probably benign Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Kcnj4 C A 15: 79,368,874 (GRCm39) A369S probably benign Het
Llgl1 T C 11: 60,596,834 (GRCm39) V145A probably benign Het
Mdga1 T C 17: 30,069,491 (GRCm39) D185G probably damaging Het
Mettl2 A G 11: 105,017,604 (GRCm39) D38G probably damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Mpp4 T C 1: 59,183,961 (GRCm39) I260V possibly damaging Het
Mtcl1 T C 17: 66,651,220 (GRCm39) E1112G probably damaging Het
Mtus2 T A 5: 148,140,748 (GRCm39) N871K possibly damaging Het
Mylk C T 16: 34,732,645 (GRCm39) Q642* probably null Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Or4f57 A G 2: 111,790,560 (GRCm39) I286T probably damaging Het
Pdzd2 A T 15: 12,387,732 (GRCm39) D875E probably benign Het
Piezo1 G T 8: 123,225,413 (GRCm39) T557K probably damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Plxnb1 T C 9: 108,929,291 (GRCm39) V49A possibly damaging Het
Pramel6 A T 2: 87,338,874 (GRCm39) I25F probably damaging Het
Rreb1 C T 13: 38,114,419 (GRCm39) Q593* probably null Het
Scn8a A G 15: 100,870,711 (GRCm39) N254S probably damaging Het
Scnn1g T G 7: 121,339,650 (GRCm39) S150A probably benign Het
Sec24a A G 11: 51,605,991 (GRCm39) F686L possibly damaging Het
Sirt1 T C 10: 63,157,777 (GRCm39) T546A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Traf5 A T 1: 191,729,806 (GRCm39) V415E probably benign Het
Traip C G 9: 107,836,686 (GRCm39) T110S probably benign Het
Treml2 T C 17: 48,615,142 (GRCm39) V209A probably benign Het
Trpv5 T C 6: 41,634,830 (GRCm39) S500G probably benign Het
Usp32 G A 11: 84,944,801 (GRCm39) L296F probably benign Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Other mutations in Zswim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0268:Zswim1 UTSW 2 164,668,046 (GRCm39) missense probably damaging 0.99
R0321:Zswim1 UTSW 2 164,667,947 (GRCm39) missense probably benign 0.02
R0490:Zswim1 UTSW 2 164,667,203 (GRCm39) missense possibly damaging 0.90
R1795:Zswim1 UTSW 2 164,667,320 (GRCm39) missense probably benign
R4213:Zswim1 UTSW 2 164,667,705 (GRCm39) missense probably benign 0.15
R5191:Zswim1 UTSW 2 164,667,939 (GRCm39) missense probably benign
R5290:Zswim1 UTSW 2 164,667,845 (GRCm39) missense probably damaging 1.00
R6178:Zswim1 UTSW 2 164,667,972 (GRCm39) splice site probably null
R6547:Zswim1 UTSW 2 164,666,716 (GRCm39) start gained probably benign
R7247:Zswim1 UTSW 2 164,667,719 (GRCm39) missense possibly damaging 0.95
R7442:Zswim1 UTSW 2 164,667,710 (GRCm39) missense probably damaging 0.99
R8774:Zswim1 UTSW 2 164,668,062 (GRCm39) missense probably benign 0.04
R8774-TAIL:Zswim1 UTSW 2 164,668,062 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ACATCTGCAAGTTCCTCCAGG -3'
(R):5'- AAGGAGTGTGACTGTCCTGG -3'

Sequencing Primer
(F):5'- CAGGGTAAATTCTATCAGCTGCCG -3'
(R):5'- ACTGTCCTGGGGTGTCTC -3'
Posted On 2015-07-06