Incidental Mutation 'R3748:Zswim4'
ID 309928
Institutional Source Beutler Lab
Gene Symbol Zswim4
Ensembl Gene ENSMUSG00000035671
Gene Name zinc finger SWIM-type containing 4
Synonyms E130119J17Rik
MMRRC Submission 040733-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R3748 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 84937571-84963671 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 84938676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 1069 (P1069S)
Ref Sequence ENSEMBL: ENSMUSP00000040078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039480]
AlphaFold Q8C7B8
Predicted Effect possibly damaging
Transcript: ENSMUST00000039480
AA Change: P1069S

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000040078
Gene: ENSMUSG00000035671
AA Change: P1069S

DomainStartEndE-ValueType
low complexity region 531 545 N/A INTRINSIC
low complexity region 576 588 N/A INTRINSIC
low complexity region 607 628 N/A INTRINSIC
low complexity region 672 683 N/A INTRINSIC
low complexity region 907 917 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083607
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083677
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199621
Meta Mutation Damage Score 0.0876 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A G 5: 88,112,422 (GRCm39) probably benign Het
Aasdh C A 5: 77,036,501 (GRCm39) E347* probably null Het
Abca13 T C 11: 9,266,119 (GRCm39) probably benign Het
Acaca A G 11: 84,202,235 (GRCm39) probably null Het
Adam2 C T 14: 66,297,361 (GRCm39) V182I probably benign Het
Adam26b A C 8: 43,974,234 (GRCm39) V256G probably benign Het
Cfap68 A G 9: 50,677,050 (GRCm39) C14R probably benign Het
Cfhr1 C A 1: 139,485,372 (GRCm39) probably null Het
Clcn1 T A 6: 42,276,849 (GRCm39) Y393N probably damaging Het
Cmss1 T C 16: 57,122,635 (GRCm39) E253G probably damaging Het
Csmd1 T G 8: 15,956,071 (GRCm39) N3379H probably damaging Het
Cx3cr1 T C 9: 119,881,132 (GRCm39) H90R probably damaging Het
Cyp4v3 G A 8: 45,768,745 (GRCm39) R272* probably null Het
Daam1 C A 12: 72,017,940 (GRCm39) D716E probably damaging Het
Dnah8 A T 17: 31,003,148 (GRCm39) K3616* probably null Het
Fam221a A G 6: 49,349,630 (GRCm39) D2G probably damaging Het
Golgb1 G C 16: 36,739,274 (GRCm39) D2538H probably benign Het
Hoxc12 A G 15: 102,846,813 (GRCm39) E235G probably damaging Het
Lrba T G 3: 86,283,260 (GRCm39) L1858R probably damaging Het
Mfsd4b4 A G 10: 39,770,132 (GRCm39) probably benign Het
Mroh2b G A 15: 4,981,728 (GRCm39) W1513* probably null Het
Nrp1 T C 8: 129,184,461 (GRCm39) W369R probably damaging Het
Nuf2 T A 1: 169,352,945 (GRCm39) N20I probably damaging Het
Or13a19 T C 7: 139,903,041 (GRCm39) L143P possibly damaging Het
Pkdrej T A 15: 85,705,278 (GRCm39) K219N probably damaging Het
Primpol A T 8: 47,052,848 (GRCm39) D154E probably benign Het
Slk T G 19: 47,608,248 (GRCm39) D400E possibly damaging Het
Tdh T C 14: 63,733,442 (GRCm39) T149A probably benign Het
Tnip3 C T 6: 65,591,747 (GRCm39) L249F probably damaging Het
Tpcn2 T C 7: 144,809,260 (GRCm39) H682R probably damaging Het
Upf1 G T 8: 70,786,000 (GRCm39) N975K possibly damaging Het
Vmn1r39 T C 6: 66,781,854 (GRCm39) N155D probably benign Het
Vmn2r27 T C 6: 124,207,351 (GRCm39) I97V probably benign Het
Zfhx4 G A 3: 5,308,225 (GRCm39) E484K possibly damaging Het
Other mutations in Zswim4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Zswim4 APN 8 84,938,769 (GRCm39) missense probably damaging 1.00
IGL03048:Zswim4 UTSW 8 84,938,604 (GRCm39) missense possibly damaging 0.95
R0217:Zswim4 UTSW 8 84,939,293 (GRCm39) missense probably damaging 1.00
R0688:Zswim4 UTSW 8 84,955,517 (GRCm39) missense possibly damaging 0.93
R1217:Zswim4 UTSW 8 84,946,601 (GRCm39) missense possibly damaging 0.89
R1853:Zswim4 UTSW 8 84,950,829 (GRCm39) missense probably damaging 1.00
R1878:Zswim4 UTSW 8 84,939,405 (GRCm39) missense possibly damaging 0.55
R2205:Zswim4 UTSW 8 84,952,498 (GRCm39) missense possibly damaging 0.70
R2940:Zswim4 UTSW 8 84,950,377 (GRCm39) missense probably damaging 1.00
R3747:Zswim4 UTSW 8 84,938,676 (GRCm39) missense possibly damaging 0.86
R3750:Zswim4 UTSW 8 84,938,676 (GRCm39) missense possibly damaging 0.86
R4777:Zswim4 UTSW 8 84,963,586 (GRCm39) missense probably benign
R4831:Zswim4 UTSW 8 84,938,948 (GRCm39) missense probably damaging 1.00
R4959:Zswim4 UTSW 8 84,938,852 (GRCm39) missense probably benign 0.22
R4968:Zswim4 UTSW 8 84,944,001 (GRCm39) missense probably benign 0.37
R4973:Zswim4 UTSW 8 84,938,852 (GRCm39) missense probably benign 0.22
R4977:Zswim4 UTSW 8 84,953,296 (GRCm39) splice site probably null
R4978:Zswim4 UTSW 8 84,953,296 (GRCm39) splice site probably null
R4980:Zswim4 UTSW 8 84,953,296 (GRCm39) splice site probably null
R4981:Zswim4 UTSW 8 84,953,296 (GRCm39) splice site probably null
R4982:Zswim4 UTSW 8 84,953,296 (GRCm39) splice site probably null
R4983:Zswim4 UTSW 8 84,953,296 (GRCm39) splice site probably null
R5248:Zswim4 UTSW 8 84,946,561 (GRCm39) missense probably benign 0.13
R5337:Zswim4 UTSW 8 84,961,708 (GRCm39) missense probably damaging 1.00
R5366:Zswim4 UTSW 8 84,939,419 (GRCm39) missense probably benign 0.39
R5646:Zswim4 UTSW 8 84,957,739 (GRCm39) splice site probably null
R5845:Zswim4 UTSW 8 84,943,871 (GRCm39) splice site probably null
R6193:Zswim4 UTSW 8 84,952,774 (GRCm39) missense probably benign
R6270:Zswim4 UTSW 8 84,957,580 (GRCm39) missense probably damaging 1.00
R6648:Zswim4 UTSW 8 84,957,543 (GRCm39) missense probably benign 0.22
R6920:Zswim4 UTSW 8 84,940,714 (GRCm39) missense probably benign 0.01
R7117:Zswim4 UTSW 8 84,940,681 (GRCm39) missense probably damaging 1.00
R7155:Zswim4 UTSW 8 84,946,556 (GRCm39) missense probably damaging 1.00
R7344:Zswim4 UTSW 8 84,950,327 (GRCm39) nonsense probably null
R7354:Zswim4 UTSW 8 84,955,478 (GRCm39) missense probably damaging 1.00
R8036:Zswim4 UTSW 8 84,949,918 (GRCm39) missense probably benign 0.22
R8408:Zswim4 UTSW 8 84,939,014 (GRCm39) missense possibly damaging 0.82
R8518:Zswim4 UTSW 8 84,938,586 (GRCm39) missense probably damaging 1.00
R8750:Zswim4 UTSW 8 84,939,313 (GRCm39) missense possibly damaging 0.82
R8830:Zswim4 UTSW 8 84,949,945 (GRCm39) missense possibly damaging 0.92
R8838:Zswim4 UTSW 8 84,940,699 (GRCm39) missense probably damaging 1.00
R8840:Zswim4 UTSW 8 84,940,699 (GRCm39) missense probably damaging 1.00
R8842:Zswim4 UTSW 8 84,940,699 (GRCm39) missense probably damaging 1.00
R9185:Zswim4 UTSW 8 84,963,633 (GRCm39) start codon destroyed probably null 0.94
R9355:Zswim4 UTSW 8 84,955,687 (GRCm39) missense probably damaging 1.00
R9432:Zswim4 UTSW 8 84,963,539 (GRCm39) missense probably damaging 1.00
R9635:Zswim4 UTSW 8 84,939,354 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTTTGTCTGCACACTCCTAGGC -3'
(R):5'- GCTACCAAACCACTAGGGACTG -3'

Sequencing Primer
(F):5'- ACTTTACTGCAAGTAGCCATGGG -3'
(R):5'- CACTAGGGACTGACAGGGCAC -3'
Posted On 2015-04-17