Mutagenetix > Incidental Mutation

Incidental Mutation 'R7068:Tsr1'

548698

Institutional Source

Beutler Lab

Gene Symbol

Tsr1

Ensembl Gene

ENSMUSG00000038335

Gene Name

TSR1 20S rRNA accumulation

Synonyms

MMRRC Submission

045164-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R7068 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74788906-74800166 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 74794745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 467 (E467*)

Ref Sequence

ENSEMBL: ENSMUSP00000039027 (fasta)

Gene Model

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

AlphaFold

Q5SWD9

Predicted Effect

probably null
Transcript: ENSMUST00000045807
AA Change: E467*

SMART Domains

Protein: ENSMUSP00000039027
Gene: ENSMUSG00000038335
AA Change: E467*

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

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

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: ENSMUST00000153316

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	A	G	7: 119,221,803 (GRCm39)	H24R	probably benign	Het
Ago2	A	T	15: 73,018,299 (GRCm39)	F46L	probably damaging	Het
Amd1	A	G	10: 40,166,508 (GRCm39)	F123L	probably benign	Het
Arhgef10	T	C	8: 15,008,639 (GRCm39)	F546L	probably damaging	Het
Asic2	G	A	11: 81,043,081 (GRCm39)	H71Y	probably benign	Het
Asphd1	A	G	7: 126,547,850 (GRCm39)	V151A	probably benign	Het
Best3	T	C	10: 116,824,543 (GRCm39)	V3A	probably damaging	Het
C4b	A	G	17: 34,952,451 (GRCm39)	L1196P	probably damaging	Het
Cd22	A	G	7: 30,577,504 (GRCm39)	V3A	probably benign	Het
Cdkl3	T	C	11: 51,902,154 (GRCm39)		probably null	Het
Clcnka	A	T	4: 141,114,421 (GRCm39)	V631E	probably damaging	Het
Cmya5	A	G	13: 93,229,205 (GRCm39)	V1961A	possibly damaging	Het
Dnah14	A	G	1: 181,597,355 (GRCm39)	E3559G	probably benign	Het
Emsy	A	T	7: 98,259,968 (GRCm39)	D39E	probably benign	Het
Fbxl16	G	T	17: 26,038,485 (GRCm39)	V477F	possibly damaging	Het
Flt1	A	T	5: 147,610,444 (GRCm39)	I393N	probably damaging	Het
Gabra4	A	T	5: 71,729,402 (GRCm39)	N433K	probably benign	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Ghsr	T	A	3: 27,425,986 (GRCm39)	V14D	probably benign	Het
Glb1l	A	G	1: 75,179,381 (GRCm39)	Y183H	probably damaging	Het
Hycc1	A	G	5: 24,169,793 (GRCm39)	S519P	possibly damaging	Het
Ighv3-4	T	C	12: 114,217,274 (GRCm39)	T106A	probably damaging	Het
Ik	T	G	18: 36,888,518 (GRCm39)	F439V	possibly damaging	Het
Itih5	T	C	2: 10,254,115 (GRCm39)	S789P	probably damaging	Het
Kcnj8	T	C	6: 142,511,965 (GRCm39)	D214G	probably damaging	Het
Kdm5a	C	A	6: 120,407,176 (GRCm39)	H1464N	probably benign	Het
Klb	A	T	5: 65,536,683 (GRCm39)	Y671F	probably damaging	Het
Kremen2	C	A	17: 23,960,859 (GRCm39)	R421L	possibly damaging	Het
Mroh9	T	A	1: 162,866,750 (GRCm39)	D662V	probably damaging	Het
Mtmr12	T	G	15: 12,257,756 (GRCm39)	M278R	probably null	Het
Ndufa8	T	C	2: 35,934,447 (GRCm39)	M44V	possibly damaging	Het
Nedd4l	A	T	18: 65,338,722 (GRCm39)	R695S	probably damaging	Het
Nuf2	G	A	1: 169,349,988 (GRCm39)	P97S	probably damaging	Het
Or14c46	A	C	7: 85,918,745 (GRCm39)	L84R	probably damaging	Het
Or2ah1	T	C	2: 85,653,396 (GRCm39)	V27A	probably benign	Het
Or5ac24	T	C	16: 59,165,567 (GRCm39)	T166A	possibly damaging	Het
P4ha2	A	G	11: 54,001,820 (GRCm39)	T33A	probably benign	Het
Parp1	A	G	1: 180,416,233 (GRCm39)	H544R	probably damaging	Het
Plec	A	G	15: 76,061,969 (GRCm39)	L2678P	probably damaging	Het
Rad1	T	A	15: 10,490,379 (GRCm39)	Y85*	probably null	Het
Sema6d	A	G	2: 124,499,741 (GRCm39)	I309V	probably benign	Het
Skint2	T	C	4: 112,481,548 (GRCm39)	V137A	probably damaging	Het
Slc23a3	T	C	1: 75,109,877 (GRCm39)	N130S	probably benign	Het
Slc35f1	T	C	10: 52,938,596 (GRCm39)	F176S	probably damaging	Het
Slc44a2	T	A	9: 21,232,144 (GRCm39)	Y10N	probably benign	Het
Smarcc1	A	G	9: 110,014,952 (GRCm39)	T506A	probably damaging	Het
Smchd1	A	T	17: 71,694,087 (GRCm39)	S1219R	probably benign	Het
Smco1	A	G	16: 32,092,929 (GRCm39)	N200S	probably benign	Het
Srcap	A	G	7: 127,141,115 (GRCm39)	T1571A	probably benign	Het
Strip2	C	T	6: 29,932,207 (GRCm39)	T459I	probably benign	Het
Tarbp1	C	T	8: 127,153,773 (GRCm39)	A1560T	probably damaging	Het
Tcl1b1	T	A	12: 105,125,952 (GRCm39)		probably benign	Het
Tdrd5	T	C	1: 156,111,841 (GRCm39)	E436G	probably damaging	Het
Trim31	T	A	17: 37,209,408 (GRCm39)	C55S	probably damaging	Het
Tulp4	T	A	17: 6,235,564 (GRCm39)	D178E	probably damaging	Het
Vmn1r30	A	G	6: 58,411,995 (GRCm39)	V279A	possibly damaging	Het
Vmn2r98	A	G	17: 19,285,575 (GRCm39)	R132G	probably benign	Het

Other mutations in Tsr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02568:Tsr1	APN	11	74,791,204 (GRCm39)	missense	probably benign	0.19
IGL02959:Tsr1	APN	11	74,791,075 (GRCm39)	missense	probably benign	0.00
IGL03230:Tsr1	APN	11	74,791,297 (GRCm39)	missense	probably benign	0.00
IGL03358:Tsr1	APN	11	74,794,824 (GRCm39)	missense	probably benign	0.13
R0684:Tsr1	UTSW	11	74,798,767 (GRCm39)	missense	probably damaging	1.00
R1452:Tsr1	UTSW	11	74,790,425 (GRCm39)	missense	probably benign	0.21
R1484:Tsr1	UTSW	11	74,792,914 (GRCm39)	missense	probably damaging	1.00
R1831:Tsr1	UTSW	11	74,791,182 (GRCm39)	missense	probably benign	0.00
R2166:Tsr1	UTSW	11	74,798,280 (GRCm39)	splice site	probably null
R2185:Tsr1	UTSW	11	74,792,906 (GRCm39)	missense	probably damaging	1.00
R2273:Tsr1	UTSW	11	74,795,653 (GRCm39)	critical splice acceptor site	probably null
R2274:Tsr1	UTSW	11	74,795,653 (GRCm39)	critical splice acceptor site	probably null
R2275:Tsr1	UTSW	11	74,795,653 (GRCm39)	critical splice acceptor site	probably null
R2289:Tsr1	UTSW	11	74,790,111 (GRCm39)	missense	probably damaging	0.98
R3606:Tsr1	UTSW	11	74,796,059 (GRCm39)	missense	probably benign	0.01
R4928:Tsr1	UTSW	11	74,798,705 (GRCm39)	missense	probably benign
R5260:Tsr1	UTSW	11	74,796,781 (GRCm39)	missense	probably damaging	1.00
R6020:Tsr1	UTSW	11	74,791,119 (GRCm39)	splice site	probably null
R6743:Tsr1	UTSW	11	74,799,177 (GRCm39)	missense	probably benign	0.00
R7117:Tsr1	UTSW	11	74,790,360 (GRCm39)	missense	probably benign
R7868:Tsr1	UTSW	11	74,791,158 (GRCm39)	missense	possibly damaging	0.66
R8392:Tsr1	UTSW	11	74,791,096 (GRCm39)	missense	probably benign	0.40
R8734:Tsr1	UTSW	11	74,794,652 (GRCm39)	missense	probably benign
R8767:Tsr1	UTSW	11	74,799,149 (GRCm39)	missense	probably damaging	0.96
R8904:Tsr1	UTSW	11	74,790,217 (GRCm39)	nonsense	probably null
R9261:Tsr1	UTSW	11	74,799,056 (GRCm39)	missense	probably damaging	1.00
R9295:Tsr1	UTSW	11	74,799,135 (GRCm39)	missense	probably damaging	1.00
R9345:Tsr1	UTSW	11	74,790,126 (GRCm39)	missense	probably benign	0.03
R9802:Tsr1	UTSW	11	74,799,225 (GRCm39)	missense	possibly damaging	0.54
X0010:Tsr1	UTSW	11	74,794,700 (GRCm39)	missense	possibly damaging	0.78
X0026:Tsr1	UTSW	11	74,791,053 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AGTCTTTTATGTATCTCAGGGTGAC -3'
(R):5'- CCCTCTGAACAATTCTAAACCTTG -3'

Sequencing Primer
(F):5'- ACCAAGAGCTTCATGTGTGC -3'
(R):5'- TCCTTCAAGGACAAGAACAGTG -3'

Posted On

2019-05-13