Mutagenetix > Incidental Mutations

Incidental Mutation 'R1270:Swt1'

151262

Institutional Source

Beutler Lab

Gene Symbol

Swt1

Ensembl Gene

ENSMUSG00000052748

Gene Name

SWT1 RNA endoribonuclease homolog (S. cerevisiae)

Synonyms

MMRRC Submission

039336-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R1270 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

151367699-151428455 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 151384391 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 752 (N752K)

Ref Sequence

ENSEMBL: ENSMUSP00000067516 (fasta)

Gene Model

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

AlphaFold

Q9DBQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000064771
AA Change: N752K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000067516
Gene: ENSMUSG00000052748
AA Change: N752K

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

SMART Domains

Protein: ENSMUSP00000107514
Gene: ENSMUSG00000052748

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

noncoding transcript
Transcript: ENSMUST00000139244

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 36,952,184	H1662Q	probably damaging	Het
Abcc3	C	T	11: 94,357,384	R1129Q	probably damaging	Het
Adam7	T	A	14: 68,527,669	K93M	probably damaging	Het
Aldh1a2	T	G	9: 71,281,706	L301V	probably benign	Het
Alg9	A	G	9: 50,787,572		probably benign	Het
Aspg	C	T	12: 112,116,447	T187I	probably damaging	Het
C4a	A	G	17: 34,814,528		noncoding transcript	Het
Cdh2	T	G	18: 16,627,557		probably benign	Het
Ceacam1	T	C	7: 25,466,314		probably null	Het
Cep250	G	A	2: 155,990,681	V1509I	probably benign	Het
D130043K22Rik	T	C	13: 24,857,338	S248P	probably benign	Het
Dgkd	A	T	1: 87,934,125	M801L	probably damaging	Het
E330021D16Rik	A	T	6: 136,401,787	I15N	probably damaging	Het
Edc4	A	G	8: 105,891,264	E1152G	possibly damaging	Het
Enkd1	A	G	8: 105,703,901	I334T	probably damaging	Het
Gli3	C	T	13: 15,723,744	A803V	probably benign	Het
Glrx3	A	G	7: 137,453,414	N95S	probably benign	Het
Ints2	C	T	11: 86,233,085	G626R	probably damaging	Het
Kank2	A	T	9: 21,772,760	N724K	probably damaging	Het
Kctd20	A	G	17: 28,966,931	D416G	possibly damaging	Het
Lmtk3	A	G	7: 45,793,828	E645G	probably damaging	Het
Mrgpra9	A	T	7: 47,252,783		probably null	Het
Muc1	T	A	3: 89,232,107	Y605N	probably damaging	Het
Olfr1256	C	T	2: 89,835,322	V208M	possibly damaging	Het
Olfr146	A	C	9: 39,019,247	I98R	possibly damaging	Het
Prx	T	A	7: 27,518,930	I952N	probably damaging	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Skint5	A	T	4: 113,942,659	Y90*	probably null	Het
Taar1	T	C	10: 23,920,533	V43A	probably damaging	Het
Tenm2	T	C	11: 36,041,659	N1702D	probably damaging	Het
Tff2	C	T	17: 31,144,169		probably null	Het
Trim2	G	A	3: 84,167,677	A686V	probably damaging	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
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
R5400:Swt1	UTSW	1	151412834	missense	probably benign	0.00
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
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'- TCCTGATTACACCAGAATCACCTGGAG -3'
(R):5'- GAGTAGCCAGTCTGTCTGGAAAGTTG -3'

Sequencing Primer
(F):5'- TTTGACAAAAGGCCCGTAGC -3'
(R):5'- AAAGTTGGTATCTCTGTTTCCTCAG -3'

Posted On

2014-01-29