Incidental Mutation 'R2176:Zswim3'
ID236857
Institutional Source Beutler Lab
Gene Symbol Zswim3
Ensembl Gene ENSMUSG00000045822
Gene Namezinc finger SWIM-type containing 3
Synonyms4921517A06Rik
MMRRC Submission 040178-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock #R2176 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location164805098-164822130 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 164820694 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 365 (A365S)
Ref Sequence ENSEMBL: ENSMUSP00000050970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017908] [ENSMUST00000052107] [ENSMUST00000132282]
Predicted Effect probably benign
Transcript: ENSMUST00000017908
SMART Domains Protein: ENSMUSP00000017908
Gene: ENSMUSG00000017764

DomainStartEndE-ValueType
Pfam:SWIM 342 375 2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052107
AA Change: A365S

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000050970
Gene: ENSMUSG00000045822
AA Change: A365S

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
Meta Mutation Damage Score 0.1144 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik A G 9: 103,259,367 probably benign Het
Adam1a T A 5: 121,519,586 Y548F probably benign Het
Armc9 T C 1: 86,199,892 L83P probably damaging Het
BC051665 A T 13: 60,784,530 probably benign Het
Casp3 A G 8: 46,629,756 N3S probably damaging Het
Ccdc174 G A 6: 91,888,089 M109I probably benign Het
Ccr6 T A 17: 8,256,241 F93I probably damaging Het
Clvs2 T C 10: 33,595,815 S165G probably damaging Het
Cntnap5c T C 17: 58,013,946 V171A probably benign Het
Dennd5a C A 7: 109,905,120 probably null Het
Dock2 T A 11: 34,695,217 Y546F probably benign Het
Fat2 A G 11: 55,267,575 probably null Het
Focad T A 4: 88,279,244 Y625N unknown Het
Fyb A G 15: 6,579,954 K3E probably damaging Het
Gm14496 G A 2: 181,991,337 D38N probably benign Het
Gm20403 T C 12: 54,986,370 T54A probably benign Het
Gm9830 A G 9: 44,464,259 noncoding transcript Het
Hectd1 A T 12: 51,745,494 S2487R probably damaging Het
Il5ra A G 6: 106,738,272 L175S probably benign Het
Itgav C T 2: 83,803,255 R983C probably damaging Het
Kcna10 T C 3: 107,194,716 V221A probably damaging Het
Kif13b G A 14: 64,669,671 V35I probably benign Het
Kif6 G A 17: 49,755,230 E473K probably damaging Het
Mfsd14a T C 3: 116,632,393 T452A probably benign Het
Mllt1 A G 17: 56,897,398 S382P probably benign Het
Myo15b T C 11: 115,866,572 W1083R probably damaging Het
Nell2 T C 15: 95,435,157 I174V probably damaging Het
Noct G A 3: 51,249,696 probably null Het
Nvl A T 1: 181,135,074 probably benign Het
Ofcc1 T C 13: 40,097,119 S574G probably benign Het
Olfr1248 A T 2: 89,617,580 M204K possibly damaging Het
Olfr512 G A 7: 108,714,132 V248I probably damaging Het
Olfr749 T C 14: 50,736,224 M313V probably benign Het
Pip5k1a A T 3: 95,065,496 S415T probably damaging Het
Pkhd1 G A 1: 20,553,517 P785S probably damaging Het
Plcg2 A G 8: 117,612,994 Y1048C probably damaging Het
Ppp3cb A T 14: 20,520,652 V337E probably benign Het
Prkg2 T C 5: 98,966,509 probably benign Het
Prl7a2 T G 13: 27,659,106 Y238S probably benign Het
Psg28 T A 7: 18,427,879 D233V probably damaging Het
Rad50 A G 11: 53,698,209 C221R probably benign Het
Rgl3 A G 9: 21,975,958 probably benign Het
Rgsl1 T A 1: 153,825,268 probably benign Het
Ror1 C A 4: 100,441,874 R815S probably damaging Het
Rrp1b C A 17: 32,056,560 D360E probably benign Het
Ryr3 T C 2: 112,666,335 Q3682R possibly damaging Het
Sdr42e1 A T 8: 117,662,877 F342I possibly damaging Het
Setd5 A G 6: 113,151,153 R1337G probably benign Het
Siglecf T C 7: 43,351,716 V36A probably damaging Het
Slc4a5 G A 6: 83,262,560 G152D probably damaging Het
Sptbn4 T G 7: 27,364,162 M2280L probably benign Het
Syngr2 T C 11: 117,812,580 I74T probably damaging Het
Tm9sf1 T C 14: 55,641,409 I175M possibly damaging Het
Tmc3 A G 7: 83,609,308 E502G probably damaging Het
Tph1 T A 7: 46,662,039 D88V possibly damaging Het
Tpr A G 1: 150,419,940 K979E possibly damaging Het
Usp47 A G 7: 112,092,727 T799A probably benign Het
Utf1 A G 7: 139,944,007 E45G possibly damaging Het
Vmn1r208 A T 13: 22,772,602 C242S probably damaging Het
Wrnip1 T C 13: 32,820,240 I498T probably damaging Het
Ypel2 T A 11: 86,971,873 H18L probably benign Het
Zan T G 5: 137,421,848 D2849A unknown Het
Zfp647 A T 15: 76,911,660 F267I probably damaging Het
Zfp786 G T 6: 47,820,971 H344Q possibly damaging Het
Zswim5 T C 4: 116,973,041 W538R probably damaging Het
Other mutations in Zswim3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00517:Zswim3 APN 2 164821091 missense probably damaging 1.00
IGL01345:Zswim3 APN 2 164820137 missense probably damaging 1.00
IGL01608:Zswim3 APN 2 164821520 missense probably damaging 1.00
IGL01621:Zswim3 APN 2 164821520 missense probably damaging 1.00
IGL01634:Zswim3 APN 2 164820002 missense probably damaging 0.99
IGL02165:Zswim3 APN 2 164821115 missense possibly damaging 0.94
IGL02173:Zswim3 APN 2 164820839 missense probably damaging 1.00
IGL02336:Zswim3 APN 2 164820377 missense probably damaging 0.98
IGL02379:Zswim3 APN 2 164820682 splice site probably null
R0321:Zswim3 UTSW 2 164820359 missense possibly damaging 0.83
R1489:Zswim3 UTSW 2 164819981 missense probably benign 0.00
R2126:Zswim3 UTSW 2 164819993 missense probably benign 0.31
R2859:Zswim3 UTSW 2 164820389 missense probably damaging 1.00
R3853:Zswim3 UTSW 2 164820857 missense possibly damaging 0.61
R4434:Zswim3 UTSW 2 164820643 missense probably benign 0.00
R4435:Zswim3 UTSW 2 164820643 missense probably benign 0.00
R4436:Zswim3 UTSW 2 164820643 missense probably benign 0.00
R4438:Zswim3 UTSW 2 164820643 missense probably benign 0.00
R4805:Zswim3 UTSW 2 164820179 missense possibly damaging 0.52
R5874:Zswim3 UTSW 2 164820112 missense probably benign 0.06
R6417:Zswim3 UTSW 2 164820733 missense probably damaging 0.97
R6420:Zswim3 UTSW 2 164820733 missense probably damaging 0.97
R6722:Zswim3 UTSW 2 164820624 splice site probably null
R6786:Zswim3 UTSW 2 164820851 missense probably damaging 1.00
R7266:Zswim3 UTSW 2 164820482 missense probably benign 0.41
R7467:Zswim3 UTSW 2 164819875 missense possibly damaging 0.59
R7487:Zswim3 UTSW 2 164820215 missense probably damaging 0.99
R7788:Zswim3 UTSW 2 164819779 missense probably damaging 1.00
R8191:Zswim3 UTSW 2 164820208 missense probably damaging 1.00
R8308:Zswim3 UTSW 2 164821646 missense probably damaging 1.00
R8794:Zswim3 UTSW 2 164820767 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ACACCACTCGTCTCTTGGAG -3'
(R):5'- CCTTAACTTGGGAGCATTTGTG -3'

Sequencing Primer
(F):5'- CGTCTCTTGGAGAAGAAGTTACACC -3'
(R):5'- CATTTGTGGGCAAGCTCTTCAGAC -3'
Posted On2014-10-02