Mutagenetix > Incidental Mutation

Incidental Mutation 'R2050:Trpt1'

226371

Institutional Source

Beutler Lab

Gene Symbol

Trpt1

Ensembl Gene

ENSMUSG00000047656

Gene Name

tRNA phosphotransferase 1

Synonyms

EST-MNCb3719, Tpt1h, TPT1

MMRRC Submission

040057-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R2050 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6973499-6976414 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6975452 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 98 (N98K)

Ref Sequence

ENSEMBL: ENSMUSP00000085555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040772] [ENSMUST00000041686] [ENSMUST00000088223] [ENSMUST00000180765]

AlphaFold

Q8K3A2

Predicted Effect

probably benign
Transcript: ENSMUST00000040772

SMART Domains

Protein: ENSMUSP00000037858
Gene: ENSMUSG00000024965

Domain	Start	End	E-Value	Type
Blast:B41	14	77	6e-32	BLAST
B41	94	556	1.66e-28	SMART
PH	350	455	2.26e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000041686

SMART Domains

Protein: ENSMUSP00000041419
Gene: ENSMUSG00000037349

Domain	Start	End	E-Value	Type
low complexity region	7	16	N/A	INTRINSIC
low complexity region	195	206	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000088223
AA Change: N98K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000085555
Gene: ENSMUSG00000047656
AA Change: N98K

Domain	Start	End	E-Value	Type
Pfam:PTS_2-RNA	21	198	2.6e-67	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180762

Predicted Effect

probably benign
Transcript: ENSMUST00000180765

SMART Domains

Protein: ENSMUSP00000137738
Gene: ENSMUSG00000037349

Domain	Start	End	E-Value	Type
low complexity region	7	16	N/A	INTRINSIC
low complexity region	195	206	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal glucose tolerance and translation of tyrosine-rich proteins. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	G	T	10: 126,916,130 (GRCm39)	E214*	probably null	Het
Angpt2	G	T	8: 18,755,673 (GRCm39)	P265T	probably benign	Het
Apc2	C	A	10: 80,143,443 (GRCm39)		probably null	Het
Arpc1b	C	T	5: 145,062,729 (GRCm39)	P250S	probably damaging	Het
Atxn10	T	G	15: 85,249,513 (GRCm39)	V115G	probably benign	Het
Bace2	T	A	16: 97,213,336 (GRCm39)	C100S	probably damaging	Het
Bpifb9b	T	C	2: 154,151,524 (GRCm39)	S82P	possibly damaging	Het
Cacna1g	A	G	11: 94,300,300 (GRCm39)	S2157P	probably damaging	Het
Cacnb4	T	A	2: 52,359,598 (GRCm39)	I104L	probably damaging	Het
Ccdc121	T	C	5: 31,643,402 (GRCm39)	I44T	possibly damaging	Het
Cdh6	T	A	15: 13,057,587 (GRCm39)	M245L	probably benign	Het
Celsr1	A	C	15: 85,914,748 (GRCm39)	V1075G	probably benign	Het
Cfap61	T	C	2: 145,987,393 (GRCm39)	F1065L	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Colgalt1	T	C	8: 72,070,330 (GRCm39)		probably null	Het
Ctnnal1	A	T	4: 56,835,350 (GRCm39)	V309D	probably benign	Het
D7Ertd443e	T	A	7: 133,868,527 (GRCm39)	E659D	probably damaging	Het
Dab2	T	C	15: 6,464,696 (GRCm39)	Y516H	possibly damaging	Het
Dnah14	T	C	1: 181,580,127 (GRCm39)	L3099P	probably damaging	Het
Frem3	A	G	8: 81,341,520 (GRCm39)	E1271G	probably damaging	Het
Grap2	A	G	15: 80,530,444 (GRCm39)	H188R	probably benign	Het
Grin2c	T	C	11: 115,148,245 (GRCm39)	D344G	possibly damaging	Het
Hmcn2	T	C	2: 31,225,448 (GRCm39)	M119T	probably damaging	Het
Hsd11b2	A	G	8: 106,249,992 (GRCm39)	I368V	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifit1bl2	T	A	19: 34,596,870 (GRCm39)	N249Y	possibly damaging	Het
Igsf8	T	A	1: 172,146,432 (GRCm39)	Y36N	probably damaging	Het
Lrp12	G	A	15: 39,735,985 (GRCm39)	S649L	probably damaging	Het
Map2	T	C	1: 66,453,473 (GRCm39)	S788P	probably damaging	Het
Mast4	T	C	13: 102,887,917 (GRCm39)	D1164G	probably damaging	Het
Mcm9	A	G	10: 53,488,921 (GRCm39)		probably null	Het
Myo5a	G	A	9: 75,054,156 (GRCm39)	E355K	probably benign	Het
Myo9b	T	A	8: 71,743,194 (GRCm39)	V85E	probably damaging	Het
Nbeal1	G	A	1: 60,332,123 (GRCm39)		probably null	Het
Nlrx1	A	T	9: 44,174,077 (GRCm39)	W375R	probably damaging	Het
Pik3c2a	A	G	7: 116,016,686 (GRCm39)		probably null	Het
Plch2	A	G	4: 155,085,275 (GRCm39)	M272T	probably benign	Het
Plk4	T	A	3: 40,764,815 (GRCm39)	M603K	probably benign	Het
Rfx7	T	A	9: 72,524,748 (GRCm39)	V646E	probably benign	Het
Slc28a2b	T	C	2: 122,353,349 (GRCm39)	S510P	probably benign	Het
Slc9a1	A	G	4: 133,143,645 (GRCm39)	H377R	probably benign	Het
Snrnp70	A	C	7: 45,036,724 (GRCm39)	Y61*	probably null	Het
Spatc1l	T	C	10: 76,399,892 (GRCm39)	L138P	probably damaging	Het
Spink5	T	C	18: 44,140,825 (GRCm39)		probably null	Het
Sptan1	T	A	2: 29,892,250 (GRCm39)	S1055T	probably benign	Het
Tas2r104	T	A	6: 131,662,083 (GRCm39)	M209L	probably damaging	Het
Tdrd12	C	T	7: 35,228,672 (GRCm39)	V17I	probably damaging	Het
Tmem129	C	A	5: 33,815,126 (GRCm39)	A16S	probably benign	Het
Tmtc1	T	C	6: 148,164,381 (GRCm39)	E584G	probably damaging	Het
Trank1	C	A	9: 111,193,856 (GRCm39)	H627N	probably damaging	Het
Trio	T	C	15: 27,852,031 (GRCm39)	D820G	possibly damaging	Het
Ube4b	A	T	4: 149,429,069 (GRCm39)	F857I	probably damaging	Het
Vmn2r45	A	G	7: 8,475,021 (GRCm39)	V669A	probably damaging	Het
Vmn2r71	A	G	7: 85,273,681 (GRCm39)	I832V	probably damaging	Het
Zbtb20	T	A	16: 43,429,975 (GRCm39)		probably null	Het
Zfyve9	A	C	4: 108,575,800 (GRCm39)	M427R	probably benign	Het
Zfyve9	A	T	4: 108,576,500 (GRCm39)	F194I	possibly damaging	Het

Other mutations in Trpt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0391:Trpt1	UTSW	19	6,975,298 (GRCm39)	splice site	probably null
R0907:Trpt1	UTSW	19	6,976,308 (GRCm39)	missense	possibly damaging	0.51
R1191:Trpt1	UTSW	19	6,974,138 (GRCm39)	missense	probably benign	0.00
R1283:Trpt1	UTSW	19	6,975,696 (GRCm39)	nonsense	probably null
R1957:Trpt1	UTSW	19	6,975,561 (GRCm39)	missense	possibly damaging	0.67
R5813:Trpt1	UTSW	19	6,975,906 (GRCm39)	missense	probably benign	0.04
R5838:Trpt1	UTSW	19	6,975,668 (GRCm39)	missense	probably damaging	0.98
R6990:Trpt1	UTSW	19	6,975,683 (GRCm39)	missense	probably benign	0.00
R8377:Trpt1	UTSW	19	6,976,349 (GRCm39)	nonsense	probably null
R9502:Trpt1	UTSW	19	6,975,578 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GCTCCCTGGTAACTATAGCTC -3'
(R):5'- CCAGTGCTTCCAGAATGTACC -3'

Sequencing Primer
(F):5'- GTAACTATAGCTCCGCCTCCTGAG -3'
(R):5'- GTGCTTCCAGAATGTACCATGGAC -3'

Posted On

2014-09-17