Mutagenetix > Incidental Mutation

Incidental Mutation 'R1831:Tsr1'

207348

Institutional Source

Beutler Lab

Gene Symbol

Tsr1

Ensembl Gene

ENSMUSG00000038335

Gene Name

TSR1 20S rRNA accumulation

Synonyms

MMRRC Submission

039858-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R1831 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74788906-74800166 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74791182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 254 (F254L)

Ref Sequence

ENSEMBL: ENSMUSP00000039027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045807] [ENSMUST00000057631] [ENSMUST00000081799] [ENSMUST00000128230] [ENSMUST00000153316] [ENSMUST00000155702]

AlphaFold

Q5SWD9

Predicted Effect

probably benign
Transcript: ENSMUST00000045807
AA Change: F254L

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

SMART Domains

Protein: ENSMUSP00000039027
Gene: ENSMUSG00000038335
AA Change: F254L

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: ENSMUST00000057631

SMART Domains

Protein: ENSMUSP00000050496
Gene: ENSMUSG00000038351

Domain	Start	End	E-Value	Type
RUN	128	188	4.3e-18	SMART
low complexity region	453	476	N/A	INTRINSIC
TBC	563	965	3.57e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000081799

SMART Domains

Protein: ENSMUSP00000080489
Gene: ENSMUSG00000038351

Domain	Start	End	E-Value	Type
RUN	128	188	4.3e-18	SMART
low complexity region	446	453	N/A	INTRINSIC
low complexity region	498	521	N/A	INTRINSIC
TBC	608	1010	3.57e-34	SMART

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

noncoding transcript
Transcript: ENSMUST00000130910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144019

Predicted Effect

probably benign
Transcript: ENSMUST00000153316

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155785

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: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,627,255 (GRCm39)	D77G	probably damaging	Het
Adam1b	A	G	5: 121,641,000 (GRCm39)	I15T	possibly damaging	Het
Arfgef1	G	C	1: 10,275,115 (GRCm39)	I312M	probably benign	Het
Capn8	G	A	1: 182,438,666 (GRCm39)		probably null	Het
Carmil1	A	T	13: 24,348,862 (GRCm39)	V15E	probably benign	Het
Ccdc42	T	A	11: 68,481,805 (GRCm39)	M133K	probably benign	Het
Cd5	T	C	19: 10,696,933 (GRCm39)	D485G	probably damaging	Het
Cdhr18	A	G	14: 13,899,619 (GRCm38)	I101T	probably damaging	Het
Cep104	T	A	4: 154,087,003 (GRCm39)	V842E	probably benign	Het
Cep162	T	A	9: 87,088,985 (GRCm39)	I966L	probably damaging	Het
Cklf	T	C	8: 104,977,687 (GRCm39)	F13S	probably damaging	Het
Csf2rb	C	T	15: 78,232,453 (GRCm39)	P587S	probably benign	Het
Cyp21a1	A	T	17: 35,023,009 (GRCm39)		probably benign	Het
Cyp26a1	A	T	19: 37,689,071 (GRCm39)	L335F	probably damaging	Het
Dcst1	A	G	3: 89,260,057 (GRCm39)	F596L	probably damaging	Het
Dennd6a	T	A	14: 26,328,109 (GRCm39)	L44H	probably damaging	Het
Dnah6	G	A	6: 73,158,780 (GRCm39)	R608C	possibly damaging	Het
Dnajb5	A	T	4: 42,957,333 (GRCm39)	T311S	probably benign	Het
Dthd1	A	G	5: 62,984,572 (GRCm39)	T426A	probably benign	Het
Dync1h1	A	G	12: 110,580,493 (GRCm39)	K118R	probably damaging	Het
Efemp1	A	T	11: 28,871,442 (GRCm39)	D347V	possibly damaging	Het
Ephb4	T	A	5: 137,352,677 (GRCm39)	Y87N	probably damaging	Het
Ern1	A	T	11: 106,290,668 (GRCm39)		probably null	Het
Fam184a	A	T	10: 53,523,180 (GRCm39)	D164E	probably damaging	Het
Fkbp10	A	G	11: 100,314,045 (GRCm39)	E351G	probably damaging	Het
Fmn2	A	G	1: 174,437,511 (GRCm39)	S1161G	probably benign	Het
Frem1	A	G	4: 82,939,074 (GRCm39)	S3P	possibly damaging	Het
Gpr3	C	T	4: 132,938,454 (GRCm39)	A73T	possibly damaging	Het
Gprc6a	T	C	10: 51,491,902 (GRCm39)	T616A	probably benign	Het
Gtf3c2	G	T	5: 31,325,713 (GRCm39)	Q452K	probably damaging	Het
H2-Q7	C	A	17: 35,658,675 (GRCm39)	S104R	probably benign	Het
Hacd2	T	C	16: 34,922,434 (GRCm39)	Y208H	probably damaging	Het
Hid1	C	T	11: 115,239,729 (GRCm39)	G734R	probably damaging	Het
Ifi207	A	G	1: 173,559,992 (GRCm39)	I160T	unknown	Het
Itga11	T	A	9: 62,689,300 (GRCm39)	L1155Q	probably damaging	Het
Kmt2d	A	G	15: 98,753,224 (GRCm39)	S157P	probably damaging	Het
Lamb3	A	G	1: 193,017,187 (GRCm39)	T793A	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrrc66	G	A	5: 73,764,769 (GRCm39)	S758L	possibly damaging	Het
Ltn1	C	T	16: 87,197,034 (GRCm39)	S1213N	possibly damaging	Het
Meak7	T	C	8: 120,497,992 (GRCm39)	M171V	probably null	Het
Med1	T	C	11: 98,047,437 (GRCm39)		probably benign	Het
Megf6	C	T	4: 154,355,134 (GRCm39)	T1483M	probably benign	Het
Micall2	A	G	5: 139,702,508 (GRCm39)	V245A	probably benign	Het
Mipep	T	G	14: 61,109,512 (GRCm39)	Y630D	probably damaging	Het
Ndst3	T	A	3: 123,395,127 (GRCm39)	H501L	probably benign	Het
Nek10	A	T	14: 14,842,789 (GRCm38)	M165L	probably benign	Het
Nmbr	C	A	10: 14,642,609 (GRCm39)	T56K	probably benign	Het
Nxpe2	T	A	9: 48,237,452 (GRCm39)	M268L	probably benign	Het
Oasl2	A	G	5: 115,039,367 (GRCm39)	Y185C	probably benign	Het
Ogdhl	T	A	14: 32,059,484 (GRCm39)	V377E	probably damaging	Het
Or11g1	T	A	14: 50,651,658 (GRCm39)		probably null	Het
Or14j4	G	A	17: 37,920,730 (GRCm39)	S304L	possibly damaging	Het
Ovgp1	A	G	3: 105,892,384 (GRCm39)	R346G	probably benign	Het
Parp14	T	A	16: 35,678,958 (GRCm39)	N337Y	possibly damaging	Het
Pask	A	C	1: 93,248,491 (GRCm39)		probably null	Het
Pax3	G	T	1: 78,108,977 (GRCm39)	T227K	probably damaging	Het
Pik3r6	T	A	11: 68,434,860 (GRCm39)	M594K	probably benign	Het
Pms1	A	G	1: 53,246,370 (GRCm39)	F390L	probably benign	Het
Polg	G	A	7: 79,109,518 (GRCm39)	T433I	probably benign	Het
Prex1	T	C	2: 166,427,021 (GRCm39)	Y898C	probably damaging	Het
Ranbp2	T	A	10: 58,315,044 (GRCm39)	C1921*	probably null	Het
Rif1	T	A	2: 51,968,507 (GRCm39)	L230*	probably null	Het
Rnf148	A	G	6: 23,654,772 (GRCm39)	F75L	probably damaging	Het
Rps18-ps6	A	G	13: 97,897,053 (GRCm39)	V15A	probably benign	Het
Sclt1	A	G	3: 41,681,546 (GRCm39)	V91A	probably damaging	Het
Sirt1	T	C	10: 63,156,425 (GRCm39)	D735G	probably benign	Het
Spag5	T	A	11: 78,205,082 (GRCm39)	N622K	probably benign	Het
Sspo	T	G	6: 48,466,720 (GRCm39)	C3935W	probably damaging	Het
Strbp	A	G	2: 37,515,277 (GRCm39)	S250P	possibly damaging	Het
Tgfbr2	T	C	9: 115,919,604 (GRCm39)	T541A	possibly damaging	Het
Thada	A	C	17: 84,538,542 (GRCm39)	S1489A	probably damaging	Het
Tiam1	A	T	16: 89,657,182 (GRCm39)	S685T	probably benign	Het
Tpsb2	T	A	17: 25,585,494 (GRCm39)		probably null	Het
Trip4	C	A	9: 65,765,622 (GRCm39)	G359V	probably damaging	Het
Vmn1r120	T	C	7: 20,787,556 (GRCm39)	K52E	probably benign	Het
Vmn1r29	C	A	6: 58,284,692 (GRCm39)	Y137*	probably null	Het
Vmn2r52	T	C	7: 9,893,415 (GRCm39)	K575E	probably damaging	Het
Wdr95	A	G	5: 149,475,891 (GRCm39)	Y63C	probably damaging	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
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'- AAACAATGACTTCCTGCGCTC -3'
(R):5'- AACGGATCCACAGGAGCATC -3'

Sequencing Primer
(F):5'- AGCTGTCCAGGGCCTTTCTG -3'
(R):5'- CGGATCCACAGGAGCATCTATTTG -3'

Posted On

2014-06-23