Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02102:Trnt1'

279806

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trnt1

Ensembl Gene

ENSMUSG00000013736

Gene Name

tRNA nucleotidyl transferase, CCA-adding, 1

Synonyms

CGI-47, 2410043H24Rik, 2610044E04Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.964) question?

Stock #

IGL02102

Quality Score

Status

Chromosome

Chromosomal Location

106769120-106782474 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 106778112 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013882] [ENSMUST00000057578] [ENSMUST00000113239] [ENSMUST00000113247] [ENSMUST00000113248] [ENSMUST00000113249] [ENSMUST00000204782] [ENSMUST00000205163]

Predicted Effect

probably benign
Transcript: ENSMUST00000013882

SMART Domains

Protein: ENSMUSP00000013882
Gene: ENSMUSG00000005362

Domain	Start	End	E-Value	Type
low complexity region	23	39	N/A	INTRINSIC
LON	82	319	2.33e-41	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000057578

SMART Domains

Protein: ENSMUSP00000060900
Gene: ENSMUSG00000013736

Domain	Start	End	E-Value	Type
Pfam:PolyA_pol	59	182	3.8e-36	PFAM
Pfam:PolyA_pol_RNAbd	215	271	1.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113239

SMART Domains

Protein: ENSMUSP00000108865
Gene: ENSMUSG00000005362

Domain	Start	End	E-Value	Type
low complexity region	24	40	N/A	INTRINSIC
LON	83	320	2.33e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113247

SMART Domains

Protein: ENSMUSP00000108873
Gene: ENSMUSG00000013736

Domain	Start	End	E-Value	Type
Pfam:PolyA_pol	59	182	7.7e-37	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113248

SMART Domains

Protein: ENSMUSP00000108874
Gene: ENSMUSG00000013736

Domain	Start	End	E-Value	Type
Pfam:PolyA_pol	59	182	2.4e-37	PFAM
Pfam:PolyA_pol_RNAbd	215	272	9.3e-15	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113249

SMART Domains

Protein: ENSMUSP00000108875
Gene: ENSMUSG00000013736

Domain	Start	End	E-Value	Type
Pfam:PolyA_pol	59	182	3.8e-36	PFAM
Pfam:PolyA_pol_RNAbd	215	271	1.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204782

SMART Domains

Protein: ENSMUSP00000144850
Gene: ENSMUSG00000013736

Domain	Start	End	E-Value	Type
Pfam:PolyA_pol	59	134	3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205163

SMART Domains

Protein: ENSMUSP00000144943
Gene: ENSMUSG00000013736

Domain	Start	End	E-Value	Type
PDB:1OU5\|B	30	72	2e-22	PDB

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. This essential enzyme functions by catalyzing the addition of the conserved nucleotide triplet CCA to the 3' terminus of tRNA molecules. Mutations in this gene result in sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,777,439	T1338A	probably benign	Het
Adcy3	G	A	12: 4,134,699	C125Y	probably damaging	Het
Aoc1	A	T	6: 48,905,962	K257N	probably damaging	Het
Apob	T	C	12: 7,989,407	V497A	possibly damaging	Het
Atp8b5	T	A	4: 43,364,167	V684D	probably benign	Het
AW551984	A	G	9: 39,589,691	W763R	probably damaging	Het
Blm	G	A	7: 80,469,756	T1026M	probably damaging	Het
Cd160	A	G	3: 96,805,570	I126T	possibly damaging	Het
Cdk14	T	C	5: 5,380,083	K15E	probably benign	Het
Cnot6l	T	C	5: 96,091,659	K261R	probably damaging	Het
Cyp3a13	T	G	5: 137,911,603	T153P	probably benign	Het
Ddx24	A	G	12: 103,408,484		probably benign	Het
Dido1	G	A	2: 180,662,247	T1288I	possibly damaging	Het
Dnajc13	A	G	9: 104,229,009	V322A	possibly damaging	Het
Dnajc25	T	A	4: 59,017,693	Y117*	probably null	Het
Dsg1a	A	G	18: 20,332,032	N427D	probably benign	Het
Gabrq	T	G	X: 72,827,545		probably null	Het
Glce	A	G	9: 62,070,601		probably benign	Het
Gm10477	T	C	X: 56,525,401	L45P	probably damaging	Het
Htt	T	A	5: 34,891,481		probably benign	Het
Ift140	A	G	17: 25,033,130	E317G	probably benign	Het
Jak1	A	G	4: 101,159,086	M827T	probably benign	Het
Kalrn	A	G	16: 34,220,222	V932A	probably damaging	Het
Mdm2	A	C	10: 117,692,717	S227R	possibly damaging	Het
Olfr1216	A	G	2: 89,013,126		probably benign	Het
Olfr153	T	C	2: 87,532,461	F143L	probably benign	Het
Olfr305	T	C	7: 86,363,866	Y157C	probably benign	Het
Olfr995	A	G	2: 85,438,267	V297A	probably damaging	Het
Olfr996	G	A	2: 85,579,673	V145I	probably damaging	Het
Pdilt	T	G	7: 119,486,950	E514A	probably benign	Het
Pepd	A	G	7: 34,945,603	D153G	probably damaging	Het
Ptgis	A	T	2: 167,225,447	V70E	probably damaging	Het
Rnf112	T	C	11: 61,452,015	K262E	probably benign	Het
Setd5	G	T	6: 113,150,985	G1300*	probably null	Het
Snx15	A	G	19: 6,122,074	L113P	possibly damaging	Het
Sptbn1	T	C	11: 30,137,427	D1004G	probably damaging	Het
Ston2	A	C	12: 91,639,724	*896G	probably null	Het
Suco	A	G	1: 161,827,705	S1073P	probably damaging	Het
Susd1	A	C	4: 59,369,636	D344E	possibly damaging	Het
Ttll12	A	G	15: 83,582,063	F399S	probably damaging	Het
Vmn1r124	C	T	7: 21,260,542	V26I	probably benign	Het
Vmn1r52	T	A	6: 90,179,207	N164K	possibly damaging	Het
Vmn1r56	A	T	7: 5,196,336	M94K	possibly damaging	Het
Vmn1r80	T	C	7: 12,193,691	F243L	probably damaging	Het
Zdhhc8	G	A	16: 18,225,199	S379F	possibly damaging	Het

Other mutations in Trnt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00819:Trnt1	APN	6	106776222	nonsense	probably null
IGL00915:Trnt1	APN	6	106779426	missense	probably benign	0.00
IGL01821:Trnt1	APN	6	106774475	missense	probably damaging	1.00
IGL02610:Trnt1	APN	6	106778818	missense	possibly damaging	0.88
IGL02933:Trnt1	APN	6	106773426	missense	probably benign	0.40
R0606:Trnt1	UTSW	6	106777908	unclassified	probably benign
R0844:Trnt1	UTSW	6	106774503	missense	probably damaging	1.00
R2144:Trnt1	UTSW	6	106778039	missense	probably damaging	1.00
R2495:Trnt1	UTSW	6	106773369	missense	possibly damaging	0.88
R4994:Trnt1	UTSW	6	106778892	nonsense	probably null
R5294:Trnt1	UTSW	6	106773414	missense	probably damaging	1.00
R5742:Trnt1	UTSW	6	106778917	nonsense	probably null
R6855:Trnt1	UTSW	6	106777922	missense	probably damaging	1.00
R7491:Trnt1	UTSW	6	106778904	missense	probably benign
R7492:Trnt1	UTSW	6	106774532	missense	possibly damaging	0.76
R7880:Trnt1	UTSW	6	106769556	critical splice donor site	probably null

Posted On

2015-04-16