Incidental Mutation 'R2185:Swt1'
ID 237798
Institutional Source Beutler Lab
Gene Symbol Swt1
Ensembl Gene ENSMUSG00000052748
Gene Name SWT1 RNA endoribonuclease homolog (S. cerevisiae)
Synonyms 1200016B10Rik
MMRRC Submission 040187-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # R2185 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 151243450-151304206 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 151260219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 677 (H677L)
Ref Sequence ENSEMBL: ENSMUSP00000107514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064771] [ENSMUST00000111883]
AlphaFold Q9DBQ9
Predicted Effect probably benign
Transcript: ENSMUST00000064771
AA Change: T727S

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000067516
Gene: ENSMUSG00000052748
AA Change: T727S

DomainStartEndE-ValueType
low complexity region 186 206 N/A INTRINSIC
low complexity region 231 242 N/A INTRINSIC
low complexity region 258 269 N/A INTRINSIC
PINc 395 522 1.94e-9 SMART
low complexity region 783 793 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111883
AA Change: H677L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107514
Gene: ENSMUSG00000052748
AA Change: H677L

DomainStartEndE-ValueType
low complexity region 186 206 N/A INTRINSIC
low complexity region 231 242 N/A INTRINSIC
low complexity region 258 269 N/A INTRINSIC
PINc 395 522 1.94e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139244
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,829 (GRCm39) D119G probably damaging Het
Abca1 A G 4: 53,089,830 (GRCm39) M427T probably benign Het
Ankra2 T C 13: 98,402,912 (GRCm39) F53S probably damaging Het
Ano3 T C 2: 110,605,390 (GRCm39) E272G probably benign Het
Aqr C T 2: 113,961,015 (GRCm39) probably null Het
Ccdc168 G A 1: 44,100,541 (GRCm39) H186Y probably benign Het
Cibar1 A T 4: 12,169,041 (GRCm39) probably benign Het
Clca4b T C 3: 144,634,317 (GRCm39) Y92C probably damaging Het
Crebbp A T 16: 3,902,002 (GRCm39) N2374K probably damaging Het
Cspg4 A T 9: 56,794,256 (GRCm39) I664L probably benign Het
Ctnnd1 A T 2: 84,442,892 (GRCm39) D626E probably damaging Het
Dnai3 A G 3: 145,772,619 (GRCm39) S476P possibly damaging Het
Eml2 A G 7: 18,927,953 (GRCm39) Y254C probably damaging Het
Gabrr3 T C 16: 59,255,031 (GRCm39) S239P probably damaging Het
Gen1 T C 12: 11,311,041 (GRCm39) T64A probably null Het
Gm14399 C A 2: 174,973,188 (GRCm39) C189F probably damaging Het
Gm9476 T G 10: 100,143,040 (GRCm39) noncoding transcript Het
Kcnh5 A T 12: 75,177,705 (GRCm39) F134I possibly damaging Het
Kdm4b G C 17: 56,700,750 (GRCm39) A474P probably benign Het
Kif2b TTCTCTCTCT TTCTCTCT 11: 91,467,797 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc28 C T 7: 67,195,201 (GRCm39) R203Q possibly damaging Het
Lrrc8e G T 8: 4,284,986 (GRCm39) E404* probably null Het
Macf1 A T 4: 123,369,349 (GRCm39) M239K probably damaging Het
Mamdc4 A G 2: 25,459,704 (GRCm39) probably null Het
Matr3 A G 18: 35,714,278 (GRCm39) Y75C probably damaging Het
Myo19 T C 11: 84,783,047 (GRCm39) V187A probably benign Het
Ncbp2 A G 16: 31,775,195 (GRCm39) D116G probably damaging Het
Or1d2 A T 11: 74,255,572 (GRCm39) I26F probably benign Het
Or4p8 A C 2: 88,727,047 (GRCm39) V298G probably damaging Het
Or56a3 T A 7: 104,735,509 (GRCm39) D195E possibly damaging Het
Or9g3 T C 2: 85,590,363 (GRCm39) Y119C probably damaging Het
Pkd1l3 T A 8: 110,359,827 (GRCm39) M894K possibly damaging Het
Prpf8 C T 11: 75,377,939 (GRCm39) R8* probably null Het
Prss12 T A 3: 123,280,793 (GRCm39) S493T probably benign Het
Ptov1 T G 7: 44,516,707 (GRCm39) probably benign Het
Rfpl4 A T 7: 5,118,499 (GRCm39) L24M probably damaging Het
Rundc1 C A 11: 101,316,157 (GRCm39) D76E probably benign Het
Slc5a11 G T 7: 122,872,421 (GRCm39) A673S probably damaging Het
Smg5 T C 3: 88,258,868 (GRCm39) M613T probably benign Het
Tas2r107 T C 6: 131,636,566 (GRCm39) N161S probably damaging Het
Trp73 A T 4: 154,189,274 (GRCm39) probably null Het
Tsr1 A G 11: 74,792,906 (GRCm39) I405V probably damaging Het
Ttll4 A G 1: 74,718,988 (GRCm39) T280A possibly damaging Het
Ube2q2 A G 9: 55,102,366 (GRCm39) probably null Het
Usp5 T C 6: 124,794,373 (GRCm39) E769G probably damaging Het
Vmn2r68 T A 7: 84,882,901 (GRCm39) K284* probably null Het
Zfp963 C A 8: 70,195,561 (GRCm39) K297N probably benign Het
Zfp975 C A 7: 42,311,105 (GRCm39) A503S possibly damaging Het
Other mutations in Swt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Swt1 APN 1 151,286,890 (GRCm39) missense probably damaging 0.99
IGL01622:Swt1 APN 1 151,286,760 (GRCm39) missense probably benign 0.01
IGL01623:Swt1 APN 1 151,286,760 (GRCm39) missense probably benign 0.01
IGL01672:Swt1 APN 1 151,270,359 (GRCm39) critical splice donor site probably null
IGL01693:Swt1 APN 1 151,297,855 (GRCm39) missense probably benign 0.02
IGL02203:Swt1 APN 1 151,246,377 (GRCm39) missense probably benign 0.01
IGL03223:Swt1 APN 1 151,255,170 (GRCm39) missense possibly damaging 0.80
R0124:Swt1 UTSW 1 151,267,280 (GRCm39) missense probably damaging 1.00
R0496:Swt1 UTSW 1 151,287,021 (GRCm39) missense probably benign
R1037:Swt1 UTSW 1 151,246,320 (GRCm39) splice site probably benign
R1171:Swt1 UTSW 1 151,281,272 (GRCm39) missense probably damaging 1.00
R1270:Swt1 UTSW 1 151,260,142 (GRCm39) missense probably benign 0.00
R1883:Swt1 UTSW 1 151,299,284 (GRCm39) nonsense probably null
R2051:Swt1 UTSW 1 151,248,081 (GRCm39) missense probably damaging 1.00
R2110:Swt1 UTSW 1 151,279,636 (GRCm39) missense probably damaging 0.97
R3688:Swt1 UTSW 1 151,267,240 (GRCm39) missense probably damaging 0.99
R3785:Swt1 UTSW 1 151,255,155 (GRCm39) missense probably benign 0.03
R4074:Swt1 UTSW 1 151,270,520 (GRCm39) missense probably benign
R4157:Swt1 UTSW 1 151,278,795 (GRCm39) missense probably damaging 1.00
R4660:Swt1 UTSW 1 151,283,348 (GRCm39) missense probably benign 0.18
R4761:Swt1 UTSW 1 151,276,853 (GRCm39) missense probably benign 0.43
R4972:Swt1 UTSW 1 151,299,293 (GRCm39) missense probably benign 0.22
R5141:Swt1 UTSW 1 151,287,145 (GRCm39) missense probably benign 0.04
R5227:Swt1 UTSW 1 151,278,727 (GRCm39) nonsense probably null
R5400:Swt1 UTSW 1 151,288,585 (GRCm39) missense probably benign 0.00
R5580:Swt1 UTSW 1 151,260,206 (GRCm39) missense probably benign 0.00
R5912:Swt1 UTSW 1 151,287,160 (GRCm39) missense probably damaging 1.00
R5945:Swt1 UTSW 1 151,286,921 (GRCm39) missense probably benign 0.01
R5973:Swt1 UTSW 1 151,278,700 (GRCm39) splice site probably null
R5979:Swt1 UTSW 1 151,283,339 (GRCm39) missense possibly damaging 0.94
R6242:Swt1 UTSW 1 151,283,365 (GRCm39) missense probably benign 0.41
R6283:Swt1 UTSW 1 151,260,084 (GRCm39) missense possibly damaging 0.78
R6951:Swt1 UTSW 1 151,273,019 (GRCm39) missense possibly damaging 0.88
R7009:Swt1 UTSW 1 151,246,381 (GRCm39) missense possibly damaging 0.94
R7165:Swt1 UTSW 1 151,264,428 (GRCm39) missense probably damaging 1.00
R7214:Swt1 UTSW 1 151,270,364 (GRCm39) missense possibly damaging 0.63
R7403:Swt1 UTSW 1 151,264,444 (GRCm39) missense probably benign 0.01
R7439:Swt1 UTSW 1 151,286,815 (GRCm39) missense probably benign 0.04
R7441:Swt1 UTSW 1 151,286,815 (GRCm39) missense probably benign 0.04
R7571:Swt1 UTSW 1 151,270,470 (GRCm39) missense probably benign 0.00
R8028:Swt1 UTSW 1 151,260,248 (GRCm39) missense probably benign 0.26
R8225:Swt1 UTSW 1 151,297,859 (GRCm39) missense possibly damaging 0.96
R9075:Swt1 UTSW 1 151,246,245 (GRCm39) intron probably benign
R9100:Swt1 UTSW 1 151,299,256 (GRCm39) critical splice donor site probably null
R9135:Swt1 UTSW 1 151,244,239 (GRCm39) missense possibly damaging 0.61
R9291:Swt1 UTSW 1 151,286,694 (GRCm39) missense probably damaging 0.96
R9292:Swt1 UTSW 1 151,278,787 (GRCm39) missense probably benign 0.00
R9368:Swt1 UTSW 1 151,286,767 (GRCm39) missense possibly damaging 0.90
X0062:Swt1 UTSW 1 151,287,190 (GRCm39) missense probably benign 0.43
Z1176:Swt1 UTSW 1 151,264,436 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGGCAGAGCTGAATGTCTTG -3'
(R):5'- TACTATGGTAAGTAGGTCGAGCAG -3'

Sequencing Primer
(F):5'- GCTGAATGTCTTGGGAATTTAATACC -3'
(R):5'- CTGGTCTACAAAGTGAGCTCCAG -3'
Posted On 2014-10-02