Incidental Mutation 'R4025:Swi5'
ID 313431
Institutional Source Beutler Lab
Gene Symbol Swi5
Ensembl Gene ENSMUSG00000044627
Gene Name SWI5 recombination repair homolog (yeast)
Synonyms 2900010J23Rik, 1500019F05Rik
MMRRC Submission 040958-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R4025 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 32168828-32178087 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32171800 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 41 (D41G)
Ref Sequence ENSEMBL: ENSMUSP00000139369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050410] [ENSMUST00000113395] [ENSMUST00000113397] [ENSMUST00000113400] [ENSMUST00000140406] [ENSMUST00000183946]
AlphaFold Q8K3D3
Predicted Effect probably benign
Transcript: ENSMUST00000050410
AA Change: D45G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000057512
Gene: ENSMUSG00000044627
AA Change: D45G

DomainStartEndE-ValueType
Pfam:Swi5 9 89 7.5e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113395
AA Change: D3G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109022
Gene: ENSMUSG00000044627
AA Change: D3G

DomainStartEndE-ValueType
Pfam:Swi5 9 89 7.5e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113397
SMART Domains Protein: ENSMUSP00000109024
Gene: ENSMUSG00000044627

DomainStartEndE-ValueType
Pfam:Swi5 1 59 9.9e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113400
AA Change: D35G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000109027
Gene: ENSMUSG00000044627
AA Change: D35G

DomainStartEndE-ValueType
Pfam:Swi5 45 120 1.5e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127131
Predicted Effect possibly damaging
Transcript: ENSMUST00000140406
AA Change: D41G

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139369
Gene: ENSMUSG00000044627
AA Change: D41G

DomainStartEndE-ValueType
Pfam:Swi5 47 120 1.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183946
AA Change: D3G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139299
Gene: ENSMUSG00000044627
AA Change: D3G

DomainStartEndE-ValueType
Pfam:Swi5 9 89 7.5e-28 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1 A T 6: 48,885,203 (GRCm39) N646I probably damaging Het
Atad5 A G 11: 80,011,512 (GRCm39) D1293G probably damaging Het
Cacna1a C T 8: 85,307,962 (GRCm39) T1409I probably damaging Het
Cdk5rap2 T A 4: 70,168,624 (GRCm39) K1428N probably damaging Het
Clcn6 T A 4: 148,098,740 (GRCm39) T463S possibly damaging Het
Ctnna2 A T 6: 77,613,827 (GRCm39) D254E possibly damaging Het
Fbxl7 A G 15: 26,552,905 (GRCm39) S121P probably benign Het
Fezf2 A T 14: 12,343,986 (GRCm38) C302S probably damaging Het
Gm9920 A G 15: 54,975,966 (GRCm39) R25G probably benign Het
Golgb1 C T 16: 36,735,706 (GRCm39) A1651V probably benign Het
Grk3 T A 5: 113,062,850 (GRCm39) N666Y possibly damaging Het
Mctp2 C A 7: 71,739,987 (GRCm39) C801F possibly damaging Het
Myo1e A G 9: 70,232,157 (GRCm39) I229V probably benign Het
Nutm2 A G 13: 50,623,389 (GRCm39) I29V probably benign Het
Odf2 C T 2: 29,816,827 (GRCm39) R763W probably damaging Het
Or8d4 T C 9: 40,038,796 (GRCm39) T154A probably benign Het
Papss2 T C 19: 32,629,323 (GRCm39) I304T probably damaging Het
Polr2a T A 11: 69,634,485 (GRCm39) I693F possibly damaging Het
Ppm1d T A 11: 85,236,583 (GRCm39) I454N probably benign Het
Ranbp2 A G 10: 58,316,378 (GRCm39) E2366G probably benign Het
Slc22a20 T C 19: 6,035,808 (GRCm39) T121A probably damaging Het
Slc4a3 T C 1: 75,525,685 (GRCm39) S262P probably damaging Het
Slfn4 A T 11: 83,078,040 (GRCm39) N276I probably damaging Het
Spag7 C A 11: 70,555,300 (GRCm39) E130D probably damaging Het
Spns1 A T 7: 125,976,118 (GRCm39) C28* probably null Het
Stab1 C T 14: 30,876,909 (GRCm39) G805D possibly damaging Het
Tasor2 T C 13: 3,634,554 (GRCm39) D751G probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Uxs1 T C 1: 43,841,776 (GRCm39) probably benign Het
Vmn1r34 T A 6: 66,614,688 (GRCm39) M17L probably benign Het
Xirp2 A G 2: 67,341,746 (GRCm39) D1329G probably benign Het
Other mutations in Swi5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Swi5 APN 2 32,170,739 (GRCm39) missense possibly damaging 0.94
R0282:Swi5 UTSW 2 32,170,766 (GRCm39) missense probably damaging 1.00
R0452:Swi5 UTSW 2 32,171,836 (GRCm39) splice site probably benign
R1528:Swi5 UTSW 2 32,170,716 (GRCm39) splice site probably null
R4539:Swi5 UTSW 2 32,169,092 (GRCm39) missense possibly damaging 0.78
R7208:Swi5 UTSW 2 32,177,922 (GRCm39) missense probably benign 0.01
R8334:Swi5 UTSW 2 32,170,463 (GRCm39) intron probably benign
R9523:Swi5 UTSW 2 32,170,739 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CAACCATACTGTCGTGGCAAC -3'
(R):5'- CATTACCTTTCAGGCCGGTG -3'

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