Mutagenetix > Incidental Mutation

Incidental Mutation 'R1883:Swt1'

209221

Institutional Source

Beutler Lab

Gene Symbol

Swt1

Ensembl Gene

ENSMUSG00000052748

Gene Name

SWT1 RNA endoribonuclease homolog (S. cerevisiae)

Synonyms

1200016B10Rik

MMRRC Submission

039904-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R1883 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

151243450-151304206 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 151299284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 8 (K8*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064771] [ENSMUST00000111883]

AlphaFold

Q9DBQ9

Predicted Effect

probably null
Transcript: ENSMUST00000064771
AA Change: K10*

SMART Domains

Protein: ENSMUSP00000067516
Gene: ENSMUSG00000052748
AA Change: K10*

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000111883
AA Change: K10*

SMART Domains

Protein: ENSMUSP00000107514
Gene: ENSMUSG00000052748
AA Change: K10*

Domain	Start	End	E-Value	Type
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

probably null
Transcript: ENSMUST00000129939
AA Change: K8*

SMART Domains

Protein: ENSMUSP00000120483
Gene: ENSMUSG00000052748
AA Change: K8*

Domain	Start	End	E-Value	Type
PINc	146	245	6.78e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131312

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185247

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano9	T	C	7: 140,682,244 (GRCm39)	E677G	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bhmt1b	T	C	18: 87,774,669 (GRCm39)	L64P	probably damaging	Het
Brs3	T	C	X: 56,092,449 (GRCm39)	I311T	probably benign	Het
Capn9	A	G	8: 125,338,297 (GRCm39)	K552R	probably benign	Het
Catsperg1	C	T	7: 28,881,661 (GRCm39)		probably null	Het
Cdc16	A	G	8: 13,825,738 (GRCm39)	N449D	probably damaging	Het
Cdyl2	A	T	8: 117,321,902 (GRCm39)	N208K	probably damaging	Het
Cnot4	C	T	6: 35,055,092 (GRCm39)	V66I	probably damaging	Het
Cntn4	A	G	6: 106,656,353 (GRCm39)	T885A	probably benign	Het
Col20a1	C	T	2: 180,634,703 (GRCm39)	T131I	possibly damaging	Het
Crybg2	C	A	4: 133,801,594 (GRCm39)	S918*	probably null	Het
Dact2	A	T	17: 14,418,085 (GRCm39)	S207T	possibly damaging	Het
Dbnl	G	A	11: 5,749,247 (GRCm39)	G356E	probably benign	Het
Ddx18	C	A	1: 121,495,645 (GRCm39)		probably benign	Het
Dis3	A	T	14: 99,328,905 (GRCm39)	H282Q	probably benign	Het
Dnah3	T	C	7: 119,677,142 (GRCm39)	D453G	probably benign	Het
Dst	T	C	1: 34,228,389 (GRCm39)	V1994A	possibly damaging	Het
Dusp8	C	T	7: 141,638,085 (GRCm39)		probably null	Het
Eipr1	A	T	12: 28,816,850 (GRCm39)	H69L	possibly damaging	Het
Eml1	A	G	12: 108,429,911 (GRCm39)	R65G	probably damaging	Het
Epha7	C	T	4: 28,950,362 (GRCm39)	H722Y	possibly damaging	Het
Epyc	A	T	10: 97,511,695 (GRCm39)	K229N	possibly damaging	Het
Extl1	A	G	4: 134,091,917 (GRCm39)	I312T	probably benign	Het
F13a1	G	C	13: 37,172,981 (GRCm39)	A133G	probably benign	Het
Fam185a	G	T	5: 21,630,242 (GRCm39)	C26F	possibly damaging	Het
Fam186b	T	C	15: 99,176,679 (GRCm39)	N737S	probably damaging	Het
Fam78b	A	G	1: 166,829,171 (GRCm39)	I13V	probably benign	Het
Fat1	A	T	8: 45,504,184 (GRCm39)	Q4559L	probably benign	Het
Fnip1	T	C	11: 54,406,373 (GRCm39)	S1157P	probably damaging	Het
Foxj3	A	C	4: 119,467,226 (GRCm39)	M190L	probably benign	Het
Heatr3	T	C	8: 88,871,221 (GRCm39)	Y192H	possibly damaging	Het
Hexd	T	A	11: 121,098,524 (GRCm39)	S3T	probably benign	Het
Klf3	C	T	5: 64,980,224 (GRCm39)	P5S	probably damaging	Het
Klf9	C	T	19: 23,142,101 (GRCm39)	S187L	probably damaging	Het
Krt9	T	C	11: 100,079,523 (GRCm39)	H623R	unknown	Het
Krtap2-4	G	C	11: 99,505,505 (GRCm39)		probably benign	Het
Lmtk3	T	C	7: 45,436,273 (GRCm39)	Y84H	probably damaging	Het
Mroh3	G	T	1: 136,134,731 (GRCm39)	A166D	probably damaging	Het
Musk	C	A	4: 58,373,189 (GRCm39)	P697T	probably benign	Het
Nek9	A	G	12: 85,379,330 (GRCm39)	L192P	probably damaging	Het
Nipbl	A	C	15: 8,356,616 (GRCm39)	F1590C	probably damaging	Het
Nrk	G	T	X: 137,907,922 (GRCm39)	V1455F	probably damaging	Het
Nsun3	T	C	16: 62,555,656 (GRCm39)	D290G	probably damaging	Het
Obscn	T	C	11: 58,969,029 (GRCm39)	T222A	probably damaging	Het
Or2a12	T	C	6: 42,904,764 (GRCm39)	S200P	probably damaging	Het
Or51f1d	T	C	7: 102,701,189 (GRCm39)	I228T	probably benign	Het
Or6b9	T	C	7: 106,555,981 (GRCm39)	H54R	probably benign	Het
Osbpl11	T	G	16: 33,034,723 (GRCm39)	H237Q	probably benign	Het
Pde10a	A	T	17: 9,197,776 (GRCm39)	T671S	possibly damaging	Het
Pkd2	A	T	5: 104,631,094 (GRCm39)	N506I	probably damaging	Het
Ppp3cb	A	G	14: 20,573,913 (GRCm39)	V274A	possibly damaging	Het
Prex1	T	C	2: 166,425,192 (GRCm39)	D938G	probably benign	Het
Ptch1	G	A	13: 63,659,841 (GRCm39)	Q1134*	probably null	Het
Rasgrf2	A	G	13: 92,117,149 (GRCm39)	V820A	probably benign	Het
Rimbp2	C	T	5: 128,880,998 (GRCm39)	V137M	possibly damaging	Het
Rpa1	A	G	11: 75,209,309 (GRCm39)	V137A	probably benign	Het
Rps6ka1	A	C	4: 133,591,354 (GRCm39)	I299S	probably damaging	Het
Scn3b	A	C	9: 40,190,669 (GRCm39)		probably null	Het
Sdha	A	T	13: 74,481,255 (GRCm39)	I317N	probably damaging	Het
Serpina1d	T	A	12: 103,732,037 (GRCm39)	D274V	possibly damaging	Het
Sik3	C	G	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Snx14	T	A	9: 88,284,314 (GRCm39)	E451D	probably benign	Het
Spmip4	T	C	6: 50,551,433 (GRCm39)	T339A	probably benign	Het
Tas1r3	G	T	4: 155,946,610 (GRCm39)	P332T	probably damaging	Het
Tas2r126	A	T	6: 42,411,961 (GRCm39)	T165S	probably benign	Het
Tecpr1	A	G	5: 144,143,347 (GRCm39)	V676A	probably benign	Het
Tg	A	G	15: 66,543,158 (GRCm39)	E24G	probably damaging	Het
Tlr7	C	T	X: 166,089,468 (GRCm39)	G673S	probably benign	Het
Tnxb	T	A	17: 34,908,539 (GRCm39)	D1520E	probably benign	Het
Trabd	A	G	15: 88,966,184 (GRCm39)	E47G	probably damaging	Het
Trim29	T	A	9: 43,222,702 (GRCm39)	I177N	probably damaging	Het
Ubxn2a	A	T	12: 4,944,563 (GRCm39)	L53*	probably null	Het
Ulk2	A	G	11: 61,721,438 (GRCm39)	L208P	probably damaging	Het
Unc80	G	A	1: 66,564,929 (GRCm39)	C872Y	possibly damaging	Het
Vac14	A	G	8: 111,438,319 (GRCm39)	H644R	probably damaging	Het
Vmn1r20	C	A	6: 57,409,306 (GRCm39)	H211N	probably benign	Het
Vmn1r31	C	T	6: 58,449,029 (GRCm39)	V279I	probably damaging	Het
Vmn2r18	G	T	5: 151,499,190 (GRCm39)	Q425K	probably benign	Het
Vmn2r60	T	C	7: 41,786,094 (GRCm39)	V299A	probably damaging	Het
Vps54	A	T	11: 21,262,967 (GRCm39)	T685S	possibly damaging	Het
Vwa5b1	A	G	4: 138,302,700 (GRCm39)	W932R	probably damaging	Het
Wdr53	A	T	16: 32,075,316 (GRCm39)	I174F	possibly damaging	Het
Zfp157	A	G	5: 138,443,102 (GRCm39)	D31G	probably damaging	Het
Zfp60	T	C	7: 27,449,435 (GRCm39)	L701P	probably benign	Het
Zfp609	A	T	9: 65,702,040 (GRCm39)	M204K	probably benign	Het
Zfp831	A	G	2: 174,545,870 (GRCm39)	H1325R	possibly damaging	Het
Zfp995	A	T	17: 22,099,622 (GRCm39)	I204N	probably benign	Het
Zp2	C	T	7: 119,732,624 (GRCm39)	D641N	probably benign	Het

Other mutations in Swt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- ACTGGGTGAATTCATTTTCCTCAG -3'
(R):5'- CAGGGGTAATTGAAATTACTTGGC -3'

Sequencing Primer
(F):5'- GGTGAATTCATTTTCCTCAGTGTATC -3'
(R):5'- GAAATTACTTGGCTTATAGCGTTTG -3'

Posted On

2014-06-30