Mutagenetix > Incidental Mutation

Incidental Mutation 'R5400:Swt1'

429911

Institutional Source

Beutler Lab

Gene Symbol

Swt1

Ensembl Gene

ENSMUSG00000052748

Gene Name

SWT1 RNA endoribonuclease homolog (S. cerevisiae)

Synonyms

MMRRC Submission

042971-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R5400 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

151367699-151428455 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 151412834 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 80 (T80A)

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: T80A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000067516
Gene: ENSMUSG00000052748
AA Change: T80A

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 benign
Transcript: ENSMUST00000111883
AA Change: T80A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000107514
Gene: ENSMUSG00000052748
AA Change: T80A

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 benign
Transcript: ENSMUST00000129939

SMART Domains

Protein: ENSMUSP00000120483
Gene: ENSMUSG00000052748

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131312

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138095

Meta Mutation Damage Score

0.0803

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	T	5: 9,479,247	N1027Y	probably damaging	Het
Accsl	T	C	2: 93,859,422	D380G	probably damaging	Het
Afm	T	C	5: 90,551,398	L567P	possibly damaging	Het
AI481877	A	G	4: 59,082,432	S399P	possibly damaging	Het
Anks1b	A	T	10: 90,512,824	I785L	probably damaging	Het
Arpc5l	G	A	2: 39,013,735	G79S	probably benign	Het
Arvcf	G	T	16: 18,399,070	R440L	probably benign	Het
Atm	T	C	9: 53,503,018	D924G	probably damaging	Het
Atp8b1	A	T	18: 64,545,989		probably null	Het
Cd19	C	T	7: 126,414,452	G55D	probably benign	Het
Cd34	A	G	1: 194,938,958		probably benign	Het
Cd69	T	A	6: 129,269,991	M88L	probably benign	Het
Ces2h	A	G	8: 105,018,425	E397G	probably benign	Het
Ddx60	T	C	8: 62,010,002	F1306L	possibly damaging	Het
Dennd5b	T	C	6: 149,000,016	E1124G	probably damaging	Het
Dio1	A	T	4: 107,306,988	M44K	probably damaging	Het
En1	A	G	1: 120,603,595	D188G	probably damaging	Het
Epha10	C	T	4: 124,914,121		probably benign	Het
Fam120b	A	T	17: 15,403,126	L455F	possibly damaging	Het
Flt4	AC	ACC	11: 49,651,034		probably null	Het
Gm38394	G	A	1: 133,658,141	T486I	probably damaging	Het
Incenp	A	G	19: 9,877,675		probably null	Het
Kansl3	A	G	1: 36,358,149	V86A	possibly damaging	Het
Klhl7	C	G	5: 24,126,920	F73L	probably damaging	Het
Med28	T	A	5: 45,525,199	V69D	probably damaging	Het
Mknk1	C	A	4: 115,864,552	L98M	probably damaging	Het
Mknk1	T	A	4: 115,864,553	L98Q	probably damaging	Het
Myo3b	T	A	2: 70,105,380	C97S	probably damaging	Het
Neto1	A	G	18: 86,395,908	H9R	possibly damaging	Het
Olfr1230	T	C	2: 89,296,913	D119G	probably damaging	Het
Olfr317	T	C	11: 58,732,320	T282A	possibly damaging	Het
Olfr354	A	T	2: 36,907,821	I292F	probably damaging	Het
Olfr78	G	A	7: 102,742,430	T191I	probably benign	Het
Omd	A	T	13: 49,592,227	E371V	probably benign	Het
Osbpl9	G	T	4: 109,062,300	Y733*	probably null	Het
Pcdh12	A	T	18: 38,268,898	S91R	probably damaging	Het
Pxk	C	A	14: 8,136,911	P144Q	probably benign	Het
Qser1	A	G	2: 104,789,874	S198P	probably damaging	Het
Recql	T	G	6: 142,362,347		probably benign	Het
Reln	T	C	5: 21,979,714	D1601G	probably damaging	Het
Scn10a	T	C	9: 119,609,034	D1922G	probably damaging	Het
Scn11a	T	A	9: 119,769,908	R1185S	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc13a4	A	T	6: 35,301,842	C37*	probably null	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc9a9	T	A	9: 94,712,901	F155I	probably damaging	Het
Spef2	T	A	15: 9,614,281	K1193M	probably damaging	Het
Tmc1	A	G	19: 20,804,602	I584T	probably damaging	Het
Tsc22d1	C	A	14: 76,417,054	F324L	probably benign	Het
Usp19	T	C	9: 108,500,193	V1236A	probably damaging	Het
Vmn2r63	T	C	7: 42,928,211	N301S	probably benign	Het
Wrn	C	T	8: 33,294,917	V476I	probably benign	Het
Zbtb25	C	A	12: 76,349,702	E249*	probably null	Het
Zfp54	C	A	17: 21,433,700	T152K	probably benign	Het

Other mutations in Swt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Swt1	APN	1	151411139	missense	probably damaging	0.99
IGL01622:Swt1	APN	1	151411009	missense	probably benign	0.01
IGL01623:Swt1	APN	1	151411009	missense	probably benign	0.01
IGL01672:Swt1	APN	1	151394608	critical splice donor site	probably null
IGL01693:Swt1	APN	1	151422104	missense	probably benign	0.02
IGL02203:Swt1	APN	1	151370626	missense	probably benign	0.01
IGL03223:Swt1	APN	1	151379419	missense	possibly damaging	0.80
R0124:Swt1	UTSW	1	151391529	missense	probably damaging	1.00
R0496:Swt1	UTSW	1	151411270	missense	probably benign
R1037:Swt1	UTSW	1	151370569	splice site	probably benign
R1171:Swt1	UTSW	1	151405521	missense	probably damaging	1.00
R1270:Swt1	UTSW	1	151384391	missense	probably benign	0.00
R1883:Swt1	UTSW	1	151423533	nonsense	probably null
R2051:Swt1	UTSW	1	151372330	missense	probably damaging	1.00
R2110:Swt1	UTSW	1	151403885	missense	probably damaging	0.97
R2185:Swt1	UTSW	1	151384468	missense	probably damaging	1.00
R3688:Swt1	UTSW	1	151391489	missense	probably damaging	0.99
R3785:Swt1	UTSW	1	151379404	missense	probably benign	0.03
R4074:Swt1	UTSW	1	151394769	missense	probably benign
R4157:Swt1	UTSW	1	151403044	missense	probably damaging	1.00
R4660:Swt1	UTSW	1	151407597	missense	probably benign	0.18
R4761:Swt1	UTSW	1	151401102	missense	probably benign	0.43
R4972:Swt1	UTSW	1	151423542	missense	probably benign	0.22
R5141:Swt1	UTSW	1	151411394	missense	probably benign	0.04
R5227:Swt1	UTSW	1	151402976	nonsense	probably null
R5580:Swt1	UTSW	1	151384455	missense	probably benign	0.00
R5912:Swt1	UTSW	1	151411409	missense	probably damaging	1.00
R5945:Swt1	UTSW	1	151411170	missense	probably benign	0.01
R5973:Swt1	UTSW	1	151402949	splice site	probably null
R5979:Swt1	UTSW	1	151407588	missense	possibly damaging	0.94
R6242:Swt1	UTSW	1	151407614	missense	probably benign	0.41
R6283:Swt1	UTSW	1	151384333	missense	possibly damaging	0.78
R6951:Swt1	UTSW	1	151397268	missense	possibly damaging	0.88
R7009:Swt1	UTSW	1	151370630	missense	possibly damaging	0.94
R7165:Swt1	UTSW	1	151388677	missense	probably damaging	1.00
R7214:Swt1	UTSW	1	151394613	missense	possibly damaging	0.63
R7403:Swt1	UTSW	1	151388693	missense	probably benign	0.01
R7439:Swt1	UTSW	1	151411064	missense	probably benign	0.04
R7441:Swt1	UTSW	1	151411064	missense	probably benign	0.04
R7571:Swt1	UTSW	1	151394719	missense	probably benign	0.00
R8028:Swt1	UTSW	1	151384497	missense	probably benign	0.26
R8225:Swt1	UTSW	1	151422108	missense	possibly damaging	0.96
R9075:Swt1	UTSW	1	151370494	intron	probably benign
R9100:Swt1	UTSW	1	151423505	critical splice donor site	probably null
R9135:Swt1	UTSW	1	151368488	missense	possibly damaging	0.61
R9291:Swt1	UTSW	1	151410943	missense	probably damaging	0.96
R9292:Swt1	UTSW	1	151403036	missense	probably benign	0.00
R9368:Swt1	UTSW	1	151411016	missense	possibly damaging	0.90
X0062:Swt1	UTSW	1	151411439	missense	probably benign	0.43
Z1176:Swt1	UTSW	1	151388685	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGTTGACATAGCCCAGTGC -3'
(R):5'- CTATGAAGGCTCTATGCTCCAG -3'

Sequencing Primer
(F):5'- GCCCAGTGCTTGCCTAG -3'
(R):5'- AAGGCTCTATGCTCCAGTGTGG -3'

Posted On

2016-09-06