Mutagenetix > Incidental Mutation

Incidental Mutation 'R6132:Tsr3'

487206

Institutional Source

Beutler Lab

Gene Symbol

Tsr3

Ensembl Gene

ENSMUSG00000015126

Gene Name

TSR3 20S rRNA accumulation

Synonyms

1110014B11Rik, 0610007P22Rik

MMRRC Submission

044279-MU

Accession Numbers

Essential gene?

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

Stock #

R6132 (G1)

Quality Score

200.009

Status

Validated

Chromosome

Chromosomal Location

25459144-25461772 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 25460835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 234 (D234Y)

Ref Sequence

ENSEMBL: ENSMUSP00000068511 (fasta)

Gene Model

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

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

probably null
Transcript: ENSMUST00000063574
AA Change: D234Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068511
Gene: ENSMUSG00000015126
AA Change: D234Y

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

noncoding transcript
Transcript: ENSMUST00000175461

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

noncoding transcript
Transcript: ENSMUST00000182126

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182922

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

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

Meta Mutation Damage Score

0.2708

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (49/51)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,960,643 (GRCm39)	Y702H	probably benign	Het
Adgrv1	G	T	13: 81,654,195 (GRCm39)	N2225K	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Alkbh5	G	T	11: 60,428,821 (GRCm39)		probably benign	Het
Atp5mc1	A	G	11: 95,965,850 (GRCm39)	M1T	probably null	Het
Crebrf	C	T	17: 26,982,377 (GRCm39)	P588S	probably benign	Het
Ctsr	A	C	13: 61,309,582 (GRCm39)		probably null	Het
Cyp2c68	A	G	19: 39,691,858 (GRCm39)	V355A	possibly damaging	Het
Ddx52	A	G	11: 83,850,283 (GRCm39)	K555E	possibly damaging	Het
Depdc5	T	A	5: 33,067,811 (GRCm39)	S410T	probably damaging	Het
Dhx30	A	T	9: 109,914,847 (GRCm39)	I884N	probably damaging	Het
Dlg1	A	T	16: 31,655,059 (GRCm39)	N518I	possibly damaging	Het
Dnah12	T	A	14: 26,439,066 (GRCm39)	I506N	probably damaging	Het
Efcab6	A	G	15: 83,917,173 (GRCm39)	L129P	probably damaging	Het
Erap1	A	G	13: 74,808,401 (GRCm39)	N38D	probably benign	Het
Esf1	A	G	2: 140,001,699 (GRCm39)	F383L	probably benign	Het
Exoc4	A	G	6: 33,735,033 (GRCm39)	E550G	probably damaging	Het
Fbxo44	G	A	4: 148,240,565 (GRCm39)	T221I	probably benign	Het
Gal3st2b	A	T	1: 93,867,688 (GRCm39)	M112L	possibly damaging	Het
Golph3l	C	G	3: 95,499,145 (GRCm39)	P96A	probably benign	Het
Gprc6a	T	A	10: 51,491,356 (GRCm39)	I727F	possibly damaging	Het
Grin3b	T	C	10: 79,812,274 (GRCm39)	L479P	probably damaging	Het
Kdm5a	C	T	6: 120,351,892 (GRCm39)	H161Y	probably damaging	Het
Lman2	A	G	13: 55,510,038 (GRCm39)	S73P	probably benign	Het
Map3k19	T	C	1: 127,778,213 (GRCm39)	N4S	possibly damaging	Het
Mkln1	G	A	6: 31,408,155 (GRCm39)	V161M	probably damaging	Het
Mmel1	C	T	4: 154,979,475 (GRCm39)	H728Y	probably damaging	Het
Nova2	G	A	7: 18,691,794 (GRCm39)	A244T	unknown	Het
Nrcam	T	A	12: 44,617,007 (GRCm39)	Y668N	probably damaging	Het
Oacyl	G	T	18: 65,859,426 (GRCm39)	G255W	probably damaging	Het
Omd	A	C	13: 49,743,843 (GRCm39)	I298L	probably damaging	Het
Or5ac19	A	G	16: 59,089,367 (GRCm39)	V221A	probably damaging	Het
Or5ak24	A	T	2: 85,260,490 (GRCm39)	S228T	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Otor	A	T	2: 142,920,520 (GRCm39)	D34V	probably damaging	Het
Otx1	A	T	11: 21,949,406 (GRCm39)	L24H	probably damaging	Het
Pwwp2a	A	G	11: 43,596,455 (GRCm39)	Y540C	probably damaging	Het
Rttn	T	A	18: 89,133,770 (GRCm39)		probably null	Het
S1pr4	G	A	10: 81,335,030 (GRCm39)	A148V	probably benign	Het
Scn10a	C	T	9: 119,442,761 (GRCm39)	V1495M	possibly damaging	Het
Sel1l3	T	C	5: 53,357,531 (GRCm39)	K154E	possibly damaging	Het
Sema3a	T	G	5: 13,573,142 (GRCm39)		probably null	Het
Slf2	T	A	19: 44,949,300 (GRCm39)	N870K	possibly damaging	Het
Spmip6	C	T	4: 41,517,160 (GRCm39)	M1I	probably null	Het
Syne2	T	C	12: 75,991,921 (GRCm39)	V1962A	probably benign	Het
Tarbp1	T	A	8: 127,161,548 (GRCm39)	I1219F	probably benign	Het
Tet1	A	C	10: 62,649,079 (GRCm39)	C173W	probably damaging	Het
Tnn	A	G	1: 159,973,641 (GRCm39)	F242S	probably damaging	Het
Tollip	A	G	7: 141,443,334 (GRCm39)	S174P	probably benign	Het
Vmn2r106	T	C	17: 20,488,666 (GRCm39)	T578A	probably benign	Het
Zfp457	G	T	13: 67,441,360 (GRCm39)	S309*	probably null	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
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
R9743:Tsr3	UTSW	17	25,460,674 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- TAGGCTTTTCAGACCTTGCTG -3'
(R):5'- CGTCAAAGGGATCTGAACACAG -3'

Sequencing Primer
(F):5'- CTGTCATTTTGCTTCGGAAGTTTAAG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'

Posted On

2017-10-10