Incidental Mutation 'R2110:Swt1'
ID 232434
Institutional Source Beutler Lab
Gene Symbol Swt1
Ensembl Gene ENSMUSG00000052748
Gene Name SWT1 RNA endoribonuclease homolog (S. cerevisiae)
Synonyms 1200016B10Rik
MMRRC Submission 040114-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # R2110 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 151243450-151304206 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 151279636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 391 (S391P)
Ref Sequence ENSEMBL: ENSMUSP00000107514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064771] [ENSMUST00000111883]
AlphaFold Q9DBQ9
Predicted Effect probably damaging
Transcript: ENSMUST00000064771
AA Change: S391P

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000067516
Gene: ENSMUSG00000052748
AA Change: S391P

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: S391P

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107514
Gene: ENSMUSG00000052748
AA Change: S391P

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 unknown
Transcript: ENSMUST00000129939
AA Change: S141P
SMART Domains Protein: ENSMUSP00000120483
Gene: ENSMUSG00000052748
AA Change: S141P

DomainStartEndE-ValueType
PINc 146 245 6.78e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189595
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330161L09Rik T C 12: 103,373,848 (GRCm39) probably benign Het
Ablim1 T C 19: 57,032,245 (GRCm39) D638G possibly damaging Het
Adam1b A G 5: 121,638,777 (GRCm39) probably benign Het
Aim2 T C 1: 173,287,279 (GRCm39) M93T probably benign Het
Alpk2 T C 18: 65,440,151 (GRCm39) E414G possibly damaging Het
Ap1b1 T C 11: 4,965,613 (GRCm39) F51L probably damaging Het
Bard1 T A 1: 71,114,550 (GRCm39) K144* probably null Het
Begain G T 12: 108,999,843 (GRCm39) Y514* probably null Het
Ccdc186 A T 19: 56,788,574 (GRCm39) I545N possibly damaging Het
Cfap251 G A 5: 123,392,438 (GRCm39) probably benign Het
Cfap43 T C 19: 47,824,197 (GRCm39) Y58C probably damaging Het
Cfap54 A T 10: 92,722,229 (GRCm39) D2437E unknown Het
Chd2 A G 7: 73,079,735 (GRCm39) S1722P probably benign Het
Clec5a C T 6: 40,562,137 (GRCm39) G9E probably damaging Het
Cog4 A G 8: 111,585,214 (GRCm39) Y292C possibly damaging Het
Col3a1 C T 1: 45,369,305 (GRCm39) P331S unknown Het
Ctsk T C 3: 95,413,988 (GRCm39) I245T probably benign Het
Dthd1 T C 5: 62,979,251 (GRCm39) Y304H probably damaging Het
Dthd1 T C 5: 63,000,222 (GRCm39) S515P probably damaging Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
Eci2 A G 13: 35,174,699 (GRCm39) probably null Het
Ecm1 C T 3: 95,643,254 (GRCm39) A349T probably benign Het
Efemp2 A G 19: 5,525,190 (GRCm39) E32G probably damaging Het
Flt4 C A 11: 49,516,131 (GRCm39) T78K probably benign Het
Foxg1 A G 12: 49,431,708 (GRCm39) probably benign Het
Fv1 T C 4: 147,954,619 (GRCm39) V395A possibly damaging Het
Gcfc2 C A 6: 81,900,759 (GRCm39) D24E probably benign Het
Gpha2 T G 19: 6,277,532 (GRCm39) V96G probably damaging Het
Gse1 A G 8: 121,293,719 (GRCm39) Y228C probably damaging Het
Hmgxb3 T C 18: 61,288,458 (GRCm39) R470G possibly damaging Het
Ildr1 A G 16: 36,542,341 (GRCm39) E247G probably damaging Het
Ktn1 T A 14: 47,931,345 (GRCm39) M646K possibly damaging Het
Lrrc37a T A 11: 103,388,648 (GRCm39) H2259L unknown Het
Map1b A T 13: 99,567,629 (GRCm39) H1697Q unknown Het
Mdn1 A G 4: 32,700,409 (GRCm39) E1456G probably damaging Het
Mta1 C T 12: 113,095,248 (GRCm39) T467I probably damaging Het
Nav1 C T 1: 135,376,742 (GRCm39) R1694Q probably damaging Het
Ncoa5 C A 2: 164,854,838 (GRCm39) D95Y possibly damaging Het
Nfatc1 A T 18: 80,678,879 (GRCm39) C836* probably null Het
Nr3c2 T C 8: 77,635,156 (GRCm39) S86P possibly damaging Het
Nup153 A G 13: 46,837,404 (GRCm39) S1273P probably benign Het
Or8g52 G A 9: 39,631,018 (GRCm39) R165Q probably benign Het
Pcsk5 C A 19: 17,450,423 (GRCm39) G1142C probably damaging Het
Pgghg A G 7: 140,523,453 (GRCm39) D244G possibly damaging Het
Polr1has T C 17: 37,276,336 (GRCm39) V306A possibly damaging Het
Ppargc1b G A 18: 61,444,321 (GRCm39) P297S probably benign Het
Rad52 A T 6: 119,897,855 (GRCm39) Q356L possibly damaging Het
Rhpn1 T A 15: 75,585,083 (GRCm39) F507I probably damaging Het
Rhpn2 T C 7: 35,076,433 (GRCm39) M328T probably benign Het
Rnf19a T C 15: 36,254,665 (GRCm39) I298V possibly damaging Het
Rwdd2a T C 9: 86,456,184 (GRCm39) V120A probably benign Het
Scml2 G T X: 160,014,442 (GRCm39) E566D possibly damaging Het
Serpina3a G A 12: 104,082,481 (GRCm39) A85T probably damaging Het
Slc16a11 G A 11: 70,106,146 (GRCm39) G80D probably damaging Het
Slc5a5 A T 8: 71,342,395 (GRCm39) probably null Het
Sparcl1 T A 5: 104,236,289 (GRCm39) Q488L probably damaging Het
Spg21 T A 9: 65,391,711 (GRCm39) probably null Het
Spopfm2 A G 3: 94,082,834 (GRCm39) S326P probably damaging Het
Sry T C Y: 2,662,901 (GRCm39) H253R unknown Het
Uhrf2 A G 19: 30,033,888 (GRCm39) Y200C probably damaging Het
Utp15 T C 13: 98,391,493 (GRCm39) H248R probably damaging Het
Utp20 A G 10: 88,603,313 (GRCm39) probably null Het
Vcan T A 13: 89,841,422 (GRCm39) D414V probably damaging Het
Vmn1r56 A T 7: 5,199,179 (GRCm39) M146K probably damaging Het
Zfp143 A T 7: 109,685,453 (GRCm39) K399N probably damaging Het
Zfp516 A G 18: 82,975,536 (GRCm39) D578G probably damaging Het
Zfp90 G A 8: 107,152,120 (GRCm39) C611Y probably 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
R2185:Swt1 UTSW 1 151,260,219 (GRCm39) missense probably damaging 1.00
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'- TCAGATGCTAGAGTATGACTGTGAG -3'
(R):5'- ACTGGAAAGAAATTTATGTGGCAGC -3'

Sequencing Primer
(F):5'- TGCTAGAGTATGACTGTGAGAAAATC -3'
(R):5'- TAGGCCAGTCAGTTAGTCAGC -3'
Posted On 2014-09-18