Mutagenetix > Incidental Mutation

Incidental Mutation 'R1484:Tsr1'

163335

Institutional Source

Beutler Lab

Gene Symbol

Tsr1

Ensembl Gene

ENSMUSG00000038335

Gene Name

TSR1 20S rRNA accumulation

Synonyms

MMRRC Submission

039537-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R1484 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74788906-74800166 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74792914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 407 (D407E)

Ref Sequence

ENSEMBL: ENSMUSP00000039027 (fasta)

Gene Model

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

AlphaFold

Q5SWD9

Predicted Effect

probably damaging
Transcript: ENSMUST00000045807
AA Change: D407E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000039027
Gene: ENSMUSG00000038335
AA Change: D407E

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: ENSMUST00000155785

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144019

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: 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: ENSMUST00000153316

Meta Mutation Damage Score

0.2479

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

97% (85/88)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	A	T	5: 26,684,776 (GRCm39)		noncoding transcript	Het
Acvr1	A	T	2: 58,369,901 (GRCm39)	V36E	probably damaging	Het
Aldh4a1	A	G	4: 139,370,758 (GRCm39)	I414V	probably benign	Het
Alox5	C	T	6: 116,431,128 (GRCm39)	C100Y	probably damaging	Het
Ano5	T	A	7: 51,216,068 (GRCm39)	D348E	probably damaging	Het
Arhgap30	G	A	1: 171,230,839 (GRCm39)	V199M	probably damaging	Het
Arl13b	T	A	16: 62,626,999 (GRCm39)	Q234L	probably benign	Het
Atxn1	C	A	13: 45,711,052 (GRCm39)	E627*	probably null	Het
Bend3	T	C	10: 43,386,197 (GRCm39)	F197L	probably benign	Het
Brca1	A	T	11: 101,420,638 (GRCm39)	V190E	possibly damaging	Het
Brpf1	T	C	6: 113,292,096 (GRCm39)	W381R	probably damaging	Het
Brwd1	A	C	16: 95,829,491 (GRCm39)		probably null	Het
C1s2	T	C	6: 124,602,604 (GRCm39)	I530V	possibly damaging	Het
C2cd3	C	T	7: 100,089,397 (GRCm39)	R1638W	probably damaging	Het
Capns1	T	A	7: 29,893,511 (GRCm39)		probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cep126	G	A	9: 8,100,554 (GRCm39)	T660I	possibly damaging	Het
Cep295	A	C	9: 15,246,080 (GRCm39)	I744R	probably damaging	Het
Chd3	T	C	11: 69,250,725 (GRCm39)	E668G	probably benign	Het
Chek2	A	G	5: 110,996,553 (GRCm39)	T172A	probably damaging	Het
Col6a4	A	G	9: 105,890,501 (GRCm39)		probably null	Het
Coq3	G	A	4: 21,900,291 (GRCm39)	V173I	probably benign	Het
Cyp4x1	A	T	4: 114,970,098 (GRCm39)	I343N	probably damaging	Het
Dnah7b	T	A	1: 46,176,703 (GRCm39)	D774E	probably benign	Het
Dnai3	T	C	3: 145,802,996 (GRCm39)	D65G	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Esrra	T	C	19: 6,890,197 (GRCm39)	Y209C	probably damaging	Het
Gpr149	A	T	3: 62,502,592 (GRCm39)	D421E	probably benign	Het
Gpr15	T	C	16: 58,538,937 (GRCm39)	N51D	probably damaging	Het
Gpr156	T	C	16: 37,812,558 (GRCm39)	V298A	probably damaging	Het
Hmcn2	G	A	2: 31,236,507 (GRCm39)	G350D	probably damaging	Het
Ifih1	A	T	2: 62,440,902 (GRCm39)	N421K	probably benign	Het
Ilvbl	C	A	10: 78,412,564 (GRCm39)	T95K	probably damaging	Het
Itgb4	T	A	11: 115,890,625 (GRCm39)	D1104E	probably benign	Het
Katnip	C	A	7: 125,415,743 (GRCm39)		probably benign	Het
Lipf	A	T	19: 33,942,180 (GRCm39)	M37L	probably benign	Het
Lyst	T	A	13: 13,852,775 (GRCm39)	N2258K	probably benign	Het
Moxd1	A	G	10: 24,099,758 (GRCm39)	Y86C	probably damaging	Het
Muc5ac	T	C	7: 141,367,629 (GRCm39)		probably null	Het
Myo16	G	A	8: 10,610,145 (GRCm39)	R1162H	probably damaging	Het
Myo5c	A	T	9: 75,208,092 (GRCm39)	N1609Y	probably damaging	Het
Nbeal1	T	C	1: 60,240,098 (GRCm39)	F155L	probably damaging	Het
Nek4	A	T	14: 30,704,290 (GRCm39)	M602L	possibly damaging	Het
Nek9	A	G	12: 85,348,622 (GRCm39)	S971P	probably damaging	Het
Nfya	A	T	17: 48,700,570 (GRCm39)		probably benign	Het
Nrxn3	A	T	12: 89,221,547 (GRCm39)	N442I	probably damaging	Het
Nup42	A	C	5: 24,383,075 (GRCm39)	K200N	probably benign	Het
Or1e26	T	A	11: 73,480,187 (GRCm39)	I126L	possibly damaging	Het
Or4c111	G	A	2: 88,843,713 (GRCm39)	R232*	probably null	Het
Or7g32	G	A	9: 19,389,423 (GRCm39)	T38I	probably damaging	Het
Pcdh15	T	A	10: 74,126,833 (GRCm39)	I304N	probably damaging	Het
Pigo	G	C	4: 43,024,779 (GRCm39)	P107A	probably damaging	Het
Plce1	C	T	19: 38,693,783 (GRCm39)	Q769*	probably null	Het
Plin2	C	T	4: 86,575,481 (GRCm39)	R356H	probably benign	Het
Ppp1r9a	G	T	6: 5,113,712 (GRCm39)	E739*	probably null	Het
Ppp3cc	G	T	14: 70,478,397 (GRCm39)	N268K	probably damaging	Het
Prkag3	T	A	1: 74,779,919 (GRCm39)	D472V	probably damaging	Het
Ptch2	A	T	4: 116,968,046 (GRCm39)	D846V	probably damaging	Het
Rhob	A	T	12: 8,549,388 (GRCm39)	M82K	probably damaging	Het
Rps6kc1	T	A	1: 190,531,672 (GRCm39)	R777W	possibly damaging	Het
Sap130	T	A	18: 31,844,380 (GRCm39)	V850E	probably damaging	Het
Sema3a	T	G	5: 13,523,407 (GRCm39)	N125K	probably damaging	Het
Sema5a	A	G	15: 32,460,431 (GRCm39)	D64G	probably damaging	Het
Sgo2b	T	A	8: 64,384,507 (GRCm39)	D163V	possibly damaging	Het
Slc15a1	A	T	14: 121,728,651 (GRCm39)	Y31*	probably null	Het
Smchd1	A	T	17: 71,685,252 (GRCm39)	M1392K	probably benign	Het
Sobp	T	A	10: 43,036,827 (GRCm39)	N37I	probably damaging	Het
Spock3	G	T	8: 63,673,739 (GRCm39)	C142F	probably damaging	Het
Stx6	A	C	1: 155,053,650 (GRCm39)	S86R	probably benign	Het
Sult2a4	C	A	7: 13,643,726 (GRCm39)	M280I	probably benign	Het
Synm	A	T	7: 67,386,080 (GRCm39)	D527E	probably damaging	Het
Tax1bp1	C	T	6: 52,710,305 (GRCm39)	R195W	probably damaging	Het
Themis2	A	T	4: 132,519,796 (GRCm39)	N76K	possibly damaging	Het
Tmem8b	A	G	4: 43,690,234 (GRCm39)	T890A	probably benign	Het
Traf7	T	A	17: 24,730,785 (GRCm39)	H366L	possibly damaging	Het
Trim30c	A	T	7: 104,032,459 (GRCm39)	V289D	probably benign	Het
Ubap2	G	T	4: 41,235,593 (GRCm39)	A33E	probably damaging	Het
Unc13d	C	A	11: 115,964,701 (GRCm39)	R255L	possibly damaging	Het
Ush2a	G	T	1: 188,542,534 (GRCm39)	G3367*	probably null	Het
Vmn1r229	T	C	17: 21,034,791 (GRCm39)	L12P	probably damaging	Het
Vmn2r27	C	A	6: 124,177,474 (GRCm39)	G510V	probably damaging	Het
Vps4b	T	C	1: 106,707,712 (GRCm39)	E257G	probably damaging	Het
Vps72	T	C	3: 95,026,462 (GRCm39)	S136P	probably damaging	Het
Wdr36	T	C	18: 32,976,938 (GRCm39)	I181T	possibly damaging	Het
Wfikkn1	C	T	17: 26,096,765 (GRCm39)	A520T	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
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
R7068:Tsr1	UTSW	11	74,794,745 (GRCm39)	nonsense	probably null
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'- TGACAGCAAGCTCGTCACCTTC -3'
(R):5'- GCCTCAGTGTTCCAGATATCCTGC -3'

Sequencing Primer
(F):5'- TACCGAATGGCTGCACTAAG -3'
(R):5'- ttgccacagagcccgag -3'

Posted On

2014-03-28