Mutagenetix > Incidental Mutation

Incidental Mutation 'R9743:Tsr3'

731949

Institutional Source

Beutler Lab

Gene Symbol

Tsr3

Ensembl Gene

ENSMUSG00000015126

Gene Name

TSR3 20S rRNA accumulation

Synonyms

1110014B11Rik, 0610007P22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R9743 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25459144-25461772 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25460674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 180 (L180P)

Ref Sequence

ENSEMBL: ENSMUSP00000068511 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038973] [ENSMUST00000063574] [ENSMUST00000115154] [ENSMUST00000169109] [ENSMUST00000182056] [ENSMUST00000182435] [ENSMUST00000182825]

AlphaFold

Q5HZH2

Predicted Effect

probably benign
Transcript: ENSMUST00000038973

SMART Domains

Protein: ENSMUSP00000042073
Gene: ENSMUSG00000035521

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:PRKCSH	69	152	1.4e-10	PFAM
DMAP_binding	176	278	2.55e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063574
AA Change: L180P

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000068511
Gene: ENSMUSG00000015126
AA Change: L180P

Domain	Start	End	E-Value	Type
Pfam:RLI	58	92	8.2e-17	PFAM
Pfam:DUF367	96	222	1.3e-56	PFAM
low complexity region	261	282	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115154

SMART Domains

Protein: ENSMUSP00000110807
Gene: ENSMUSG00000035521

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:PRKCSH	69	151	3.9e-11	PFAM
DMAP_binding	183	285	2.55e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169109

SMART Domains

Protein: ENSMUSP00000129854
Gene: ENSMUSG00000047507

Domain	Start	End	E-Value	Type
C2	159	328	4.73e-17	SMART
low complexity region	361	379	N/A	INTRINSIC
low complexity region	434	445	N/A	INTRINSIC
low complexity region	497	509	N/A	INTRINSIC
low complexity region	692	704	N/A	INTRINSIC
low complexity region	857	868	N/A	INTRINSIC
Pfam:Membr_traf_MHD	896	958	8e-10	PFAM
C2	989	1097	7.06e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182056

SMART Domains

Protein: ENSMUSP00000138188
Gene: ENSMUSG00000047507

Domain	Start	End	E-Value	Type
C2	159	328	4.73e-17	SMART
low complexity region	361	379	N/A	INTRINSIC
low complexity region	434	445	N/A	INTRINSIC
low complexity region	497	509	N/A	INTRINSIC
low complexity region	692	704	N/A	INTRINSIC
Pfam:Membr_traf_MHD	851	959	3.3e-30	PFAM
C2	989	1097	7.06e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182435

SMART Domains

Protein: ENSMUSP00000138796
Gene: ENSMUSG00000047507

Domain	Start	End	E-Value	Type
C2	131	300	4.73e-17	SMART
low complexity region	333	351	N/A	INTRINSIC
low complexity region	406	417	N/A	INTRINSIC
low complexity region	469	481	N/A	INTRINSIC
low complexity region	664	676	N/A	INTRINSIC
Pfam:Membr_traf_MHD	823	931	3.2e-30	PFAM
C2	961	1069	7.06e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182696

Predicted Effect

probably benign
Transcript: ENSMUST00000182825

SMART Domains

Protein: ENSMUSP00000138254
Gene: ENSMUSG00000047507

Domain	Start	End	E-Value	Type
C2	159	284	4.05e-16	SMART
low complexity region	325	343	N/A	INTRINSIC
low complexity region	398	409	N/A	INTRINSIC
low complexity region	461	473	N/A	INTRINSIC
low complexity region	656	668	N/A	INTRINSIC
Pfam:Membr_traf_MHD	815	923	3.2e-30	PFAM
C2	953	1061	7.06e-16	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	A	G	2: 31,687,716 (GRCm39)	H571R	probably benign	Het
Adamts13	T	C	2: 26,886,812 (GRCm39)	V983A	probably benign	Het
Adamts13	G	A	2: 26,895,491 (GRCm39)		probably null	Het
AI661453	T	A	17: 47,780,240 (GRCm39)	N1181K	unknown	Het
Ank2	A	T	3: 126,733,794 (GRCm39)	N605K	possibly damaging	Het
Armc2	T	G	10: 41,798,598 (GRCm39)	K737T	probably benign	Het
Aspn	A	G	13: 49,705,150 (GRCm39)	Y4C	probably benign	Het
B3galt2	T	C	1: 143,522,847 (GRCm39)	F328L	probably benign	Het
Brd10	A	C	19: 29,694,261 (GRCm39)	I1744S	probably benign	Het
Ccl3	T	C	11: 83,539,428 (GRCm39)	E52G	probably damaging	Het
Col5a1	C	T	2: 27,864,505 (GRCm39)	A728V	unknown	Het
Cyp1b1	T	A	17: 80,017,808 (GRCm39)	D449V	probably benign	Het
D130043K22Rik	C	T	13: 25,056,299 (GRCm39)	P544S	probably damaging	Het
Dgkd	T	A	1: 87,861,850 (GRCm39)	W28R		Het
Emilin2	T	C	17: 71,580,867 (GRCm39)	T620A	probably benign	Het
Ercc6	T	G	14: 32,298,943 (GRCm39)	S1444A	probably benign	Het
Fam149b	A	G	14: 20,413,411 (GRCm39)	H264R	probably benign	Het
Fbxo7	T	C	10: 85,883,773 (GRCm39)	V458A	probably benign	Het
Gria4	T	G	9: 4,464,457 (GRCm39)	T502P	probably damaging	Het
Hfm1	T	C	5: 107,022,125 (GRCm39)	T974A	possibly damaging	Het
Ifna16	T	C	4: 88,594,930 (GRCm39)	D55G	probably damaging	Het
Lyst	T	C	13: 13,809,323 (GRCm39)	V331A	possibly damaging	Het
Mkks	T	C	2: 136,722,992 (GRCm39)	Y55C	probably benign	Het
Muc4	T	C	16: 32,601,194 (GRCm39)	F1291L		Het
Myo18a	A	G	11: 77,723,304 (GRCm39)	N1183S	probably benign	Het
Olfm2	T	C	9: 20,579,785 (GRCm39)	D322G	probably damaging	Het
Or2a25	G	A	6: 42,888,835 (GRCm39)	C126Y	probably damaging	Het
Or2a51	A	G	6: 43,179,229 (GRCm39)	Y217C	probably benign	Het
Or5aq7	A	G	2: 86,937,840 (GRCm39)	V297A	probably damaging	Het
Or7h8	A	G	9: 20,123,840 (GRCm39)	N65S	probably damaging	Het
Pdik1l	A	T	4: 134,011,815 (GRCm39)	D9E	probably benign	Het
Pdzrn3	C	A	6: 101,354,678 (GRCm39)	G58C	probably damaging	Het
Pex13	A	T	11: 23,606,119 (GRCm39)	L37*	probably null	Het
Pigr	G	A	1: 130,769,540 (GRCm39)	R117Q	possibly damaging	Het
Ptprq	T	A	10: 107,520,982 (GRCm39)	Y730F	probably damaging	Het
Rnase11	T	A	14: 51,287,370 (GRCm39)	K61N	probably benign	Het
Setdb2	T	C	14: 59,651,002 (GRCm39)	D427G	probably benign	Het
Slc22a21	A	G	11: 53,842,575 (GRCm39)	V518A	probably benign	Het
Slf2	T	C	19: 44,930,572 (GRCm39)	S550P	probably benign	Het
Supt16	T	C	14: 52,408,939 (GRCm39)	R812G	probably damaging	Het
Taf4	C	T	2: 179,581,592 (GRCm39)	V464M	possibly damaging	Het
Tas1r3	G	A	4: 155,945,256 (GRCm39)	T655I	probably damaging	Het
Tg	G	A	15: 66,561,839 (GRCm39)	V1108I	probably benign	Het
Tmc7	C	A	7: 118,150,452 (GRCm39)	R360S	probably damaging	Het
Tor3a	T	C	1: 156,501,103 (GRCm39)	T112A	probably benign	Het
Unc5d	T	C	8: 29,209,801 (GRCm39)	T512A	possibly damaging	Het
Vmn2r103	T	A	17: 20,032,475 (GRCm39)	Y750N	probably damaging	Het
Vmn2r20	A	T	6: 123,373,369 (GRCm39)	V491D	probably damaging	Het
Vmn2r52	T	C	7: 9,904,606 (GRCm39)	E411G	possibly damaging	Het
Zfp760	T	A	17: 21,942,338 (GRCm39)	S504R	probably benign	Het

Other mutations in Tsr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0233:Tsr3	UTSW	17	25,461,484 (GRCm39)	missense	probably benign
R0233:Tsr3	UTSW	17	25,461,484 (GRCm39)	missense	probably benign
R0395:Tsr3	UTSW	17	25,461,198 (GRCm39)	critical splice donor site	probably null
R1751:Tsr3	UTSW	17	25,461,613 (GRCm39)	missense	possibly damaging	0.87
R4523:Tsr3	UTSW	17	25,460,723 (GRCm39)	missense	probably benign	0.02
R6132:Tsr3	UTSW	17	25,460,835 (GRCm39)	missense	probably null	1.00
R6188:Tsr3	UTSW	17	25,460,835 (GRCm39)	missense	probably null	1.00
R7112:Tsr3	UTSW	17	25,459,445 (GRCm39)	missense	probably benign	0.00
R7224:Tsr3	UTSW	17	25,461,569 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAATGGCTACCCCGTAAGAC -3'
(R):5'- CCTGGAGGGACTTGATTGCTTC -3'

Sequencing Primer
(F):5'- CCCGTAAGACACAGAGACTAGG -3'
(R):5'- GATTGCTTCTCTGGGGCTCC -3'

Posted On

2022-11-14