Mutagenetix > Incidental Mutation

Incidental Mutation 'R2275:Tsr1'

242741

Institutional Source

Beutler Lab

Gene Symbol

Tsr1

Ensembl Gene

ENSMUSG00000038335

Gene Name

TSR1 20S rRNA accumulation

Synonyms

MMRRC Submission

040274-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R2275 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74898071-74909342 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 74904827 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045807] [ENSMUST00000065211] [ENSMUST00000108447] [ENSMUST00000108448] [ENSMUST00000121738] [ENSMUST00000128230] [ENSMUST00000128556] [ENSMUST00000155702] [ENSMUST00000155702] [ENSMUST00000153316]

AlphaFold

Q5SWD9

Predicted Effect

probably null
Transcript: ENSMUST00000045807

SMART Domains

Protein: ENSMUSP00000039027
Gene: ENSMUSG00000038335

Domain	Start	End	E-Value	Type
low complexity region	16	25	N/A	INTRINSIC
AARP2CN	228	309	1.14e-28	SMART
low complexity region	373	383	N/A	INTRINSIC
low complexity region	407	421	N/A	INTRINSIC
low complexity region	429	452	N/A	INTRINSIC
coiled coil region	453	478	N/A	INTRINSIC
DUF663	486	772	2.6e-179	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000065211

SMART Domains

Protein: ENSMUSP00000067552
Gene: ENSMUSG00000001323

Domain	Start	End	E-Value	Type
Pfam:PALP	19	314	3.3e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104305

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104449

Predicted Effect

probably benign
Transcript: ENSMUST00000108447

SMART Domains

Protein: ENSMUSP00000104086
Gene: ENSMUSG00000001323

Domain	Start	End	E-Value	Type
Pfam:PALP	19	179	1.8e-41	PFAM
Pfam:PALP	173	289	4.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108448

SMART Domains

Protein: ENSMUSP00000104087
Gene: ENSMUSG00000001323

Domain	Start	End	E-Value	Type
Pfam:PALP	19	314	2.1e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121738

SMART Domains

Protein: ENSMUSP00000113372
Gene: ENSMUSG00000001323

Domain	Start	End	E-Value	Type
Pfam:PALP	19	314	3.3e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127499

Predicted Effect

probably benign
Transcript: ENSMUST00000128230

SMART Domains

Protein: ENSMUSP00000121384
Gene: ENSMUSG00000038335

Domain	Start	End	E-Value	Type
low complexity region	16	25	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128556

SMART Domains

Protein: ENSMUSP00000120012
Gene: ENSMUSG00000001323

Domain	Start	End	E-Value	Type
Pfam:PALP	19	182	2.6e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155702

SMART Domains

Protein: ENSMUSP00000119868
Gene: ENSMUSG00000038335

Domain	Start	End	E-Value	Type
low complexity region	16	25	N/A	INTRINSIC
low complexity region	39	58	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155702

SMART Domains

Protein: ENSMUSP00000119868
Gene: ENSMUSG00000038335

Domain	Start	End	E-Value	Type
low complexity region	16	25	N/A	INTRINSIC
low complexity region	39	58	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155785

Predicted Effect

probably benign
Transcript: ENSMUST00000153316

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013F07Rik	A	G	3: 108,542,503	N33D	possibly damaging	Het
2300003K06Rik	A	T	11: 99,837,841	C59S	possibly damaging	Het
Abca5	A	T	11: 110,275,281	N1556K	possibly damaging	Het
Ackr1	T	C	1: 173,332,485	N156D	probably benign	Het
Aco2	C	T	15: 81,895,264	R57C	probably benign	Het
Adamtsl3	A	T	7: 82,606,558	S1593C	probably benign	Het
Adgrb2	G	A	4: 130,006,854	G333D	probably damaging	Het
Arhgef7	T	A	8: 11,815,010	F374Y	possibly damaging	Het
Armc4	C	A	18: 7,223,676	G456W	probably benign	Het
Atxn7	T	A	14: 14,013,268	M62K	possibly damaging	Het
C87436	G	A	6: 86,445,600	R52H	probably damaging	Het
Cacna1g	T	A	11: 94,415,936	E1842V	probably damaging	Het
Cdh4	T	C	2: 179,890,847	S701P	probably damaging	Het
Cdr2	A	T	7: 120,958,509	H264Q	possibly damaging	Het
Cecr2	C	T	6: 120,756,741	S563L	probably benign	Het
Col12a1	A	T	9: 79,635,427	V2352E	probably damaging	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Csad	G	T	15: 102,187,122	R167S	probably damaging	Het
Dnlz	A	T	2: 26,351,471	C82S	probably damaging	Het
Ehmt2	T	A	17: 34,910,715	N951K	possibly damaging	Het
Emilin1	C	T	5: 30,917,738	P441L	possibly damaging	Het
Enpp2	A	C	15: 54,897,794	Y221D	probably damaging	Het
Exoc3l	A	T	8: 105,290,447		probably null	Het
F11	T	C	8: 45,252,147	D119G	possibly damaging	Het
Faiml	T	C	9: 99,229,559	Y149C	probably benign	Het
Fn1	C	T	1: 71,613,943	G1296R	probably null	Het
Glg1	A	T	8: 111,168,721	Y819*	probably null	Het
Gm11568	A	G	11: 99,858,244	S92G	unknown	Het
Gm28042	A	C	2: 120,036,829	Q465P	probably damaging	Het
Gpatch1	A	T	7: 35,288,678	S678T	probably benign	Het
Gpr158	A	T	2: 21,826,863	M925L	probably benign	Het
Hecw1	T	C	13: 14,346,068	T195A	probably benign	Het
Hoxd1	A	G	2: 74,764,157	K252R	probably damaging	Het
Iqck	G	A	7: 118,899,657	D173N	possibly damaging	Het
Kcnh1	T	G	1: 192,337,521	V358G	probably damaging	Het
Kifap3	T	A	1: 163,868,758	V652D	possibly damaging	Het
Knl1	C	A	2: 119,072,281	Q1488K	probably damaging	Het
Map4k1	T	A	7: 29,001,957	H729Q	probably damaging	Het
March1	T	A	8: 66,387,499	N311K	probably benign	Het
Mypn	A	G	10: 63,131,069	F943L	probably damaging	Het
Nkpd1	A	G	7: 19,523,897	I534V	probably benign	Het
Nrarp	T	C	2: 25,181,409	V100A	possibly damaging	Het
Nt5c1a	T	C	4: 123,216,080	F324S	probably damaging	Het
Ntrk2	T	A	13: 58,861,351	Y319N	probably damaging	Het
Olfr1170	A	G	2: 88,224,823	F70L	probably benign	Het
Parg	A	G	14: 32,295,238	D384G	probably damaging	Het
Pde7b	T	A	10: 20,400,419	*460L	probably null	Het
Pigr	G	T	1: 130,846,470	V396L	probably benign	Het
Pkhd1	A	G	1: 20,200,849	I3160T	possibly damaging	Het
Ppl	T	C	16: 5,094,552	S722G	probably benign	Het
Ppp1r26	A	G	2: 28,452,701	E781G	possibly damaging	Het
Rptor	T	A	11: 119,756,322	C246*	probably null	Het
Rusc2	G	A	4: 43,416,260	R522H	probably damaging	Het
Senp7	T	C	16: 56,184,783	S927P	probably damaging	Het
Serpinb6d	A	T	13: 33,671,428	M362L	probably benign	Het
Setx	GTGGCT	GT	2: 29,154,061	1814	probably null	Het
Slc12a3	T	A	8: 94,333,287	I187N	possibly damaging	Het
Slc46a1	T	G	11: 78,466,423	S101A	probably benign	Het
Slc4a8	A	G	15: 100,807,402	M830V	probably benign	Het
Slco4a1	T	C	2: 180,464,736	L237P	possibly damaging	Het
Sned1	T	A	1: 93,281,642		probably null	Het
Tia1	A	G	6: 86,427,677	N298S	probably benign	Het
Ttc6	G	A	12: 57,702,298	V1339I	probably benign	Het
Tyrp1	A	T	4: 80,837,534	E180V	probably damaging	Het
Ubr3	T	C	2: 70,016,341	V1636A	probably benign	Het
Usp1	T	C	4: 98,929,842	L139P	probably damaging	Het
Vmn1r228	A	G	17: 20,776,545	L237P	probably damaging	Het
Vmn1r232	A	G	17: 20,914,203	L45P	probably benign	Het
Vmn2r2	T	C	3: 64,116,509	R884G	probably benign	Het
Vmn2r60	T	A	7: 42,136,827	Y351*	probably null	Het
Zbtb7a	G	A	10: 81,144,997	V342I	possibly damaging	Het
Zdhhc11	C	A	13: 73,973,752	N127K	probably damaging	Het

Other mutations in Tsr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02568:Tsr1	APN	11	74900378	missense	probably benign	0.19
IGL02959:Tsr1	APN	11	74900249	missense	probably benign	0.00
IGL03230:Tsr1	APN	11	74900471	missense	probably benign	0.00
IGL03358:Tsr1	APN	11	74903998	missense	probably benign	0.13
R0684:Tsr1	UTSW	11	74907941	missense	probably damaging	1.00
R1452:Tsr1	UTSW	11	74899599	missense	probably benign	0.21
R1484:Tsr1	UTSW	11	74902088	missense	probably damaging	1.00
R1831:Tsr1	UTSW	11	74900356	missense	probably benign	0.00
R2166:Tsr1	UTSW	11	74907454	splice site	probably null
R2185:Tsr1	UTSW	11	74902080	missense	probably damaging	1.00
R2273:Tsr1	UTSW	11	74904827	critical splice acceptor site	probably null
R2274:Tsr1	UTSW	11	74904827	critical splice acceptor site	probably null
R2289:Tsr1	UTSW	11	74899285	missense	probably damaging	0.98
R3606:Tsr1	UTSW	11	74905233	missense	probably benign	0.01
R4928:Tsr1	UTSW	11	74907879	missense	probably benign
R5260:Tsr1	UTSW	11	74905955	missense	probably damaging	1.00
R6020:Tsr1	UTSW	11	74900293	splice site	probably null
R6743:Tsr1	UTSW	11	74908351	missense	probably benign	0.00
R7068:Tsr1	UTSW	11	74903919	nonsense	probably null
R7117:Tsr1	UTSW	11	74899534	missense	probably benign
R7868:Tsr1	UTSW	11	74900332	missense	possibly damaging	0.66
R8392:Tsr1	UTSW	11	74900270	missense	probably benign	0.40
R8734:Tsr1	UTSW	11	74903826	missense	probably benign
R8767:Tsr1	UTSW	11	74908323	missense	probably damaging	0.96
R8904:Tsr1	UTSW	11	74899391	nonsense	probably null
R9261:Tsr1	UTSW	11	74908230	missense	probably damaging	1.00
R9295:Tsr1	UTSW	11	74908309	missense	probably damaging	1.00
R9345:Tsr1	UTSW	11	74899300	missense	probably benign	0.03
R9802:Tsr1	UTSW	11	74908399	missense	possibly damaging	0.54
X0010:Tsr1	UTSW	11	74903874	missense	possibly damaging	0.78
X0026:Tsr1	UTSW	11	74900227	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TTTAGGCTGATGTGGAACCATG -3'
(R):5'- AGGTACCTCAGCTCCTTCAG -3'

Sequencing Primer
(F):5'- ATGTGGAACCATGATCCTGC -3'
(R):5'- CCTTCAGCTTCTTTTTCCTCAATC -3'

Posted On

2014-10-16