Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01821:Trnt1'

154560

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, 2610044E04Rik, 2410043H24Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

IGL01821

Quality Score

Status

Chromosome

Chromosomal Location

106746099-106759435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106751436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 138 (V138I)

Ref Sequence

ENSEMBL: ENSMUSP00000108875 (fasta)

Gene Model

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

AlphaFold

Q8K1J6

Predicted Effect

probably damaging
Transcript: ENSMUST00000057578
AA Change: V138I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000060900
Gene: ENSMUSG00000013736
AA Change: V138I

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 damaging
Transcript: ENSMUST00000113247
AA Change: V138I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108873
Gene: ENSMUSG00000013736
AA Change: V138I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113248
AA Change: V138I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108874
Gene: ENSMUSG00000013736
AA Change: V138I

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 damaging
Transcript: ENSMUST00000113249
AA Change: V138I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108875
Gene: ENSMUSG00000013736
AA Change: V138I

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

noncoding transcript
Transcript: ENSMUST00000147084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154026

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	T	C	10: 20,917,142 (GRCm39)		probably null	Het
Ahnak	A	G	19: 8,989,482 (GRCm39)	I3589V	probably benign	Het
Arhgdia	A	T	11: 120,471,031 (GRCm39)	L56Q	probably damaging	Het
Camk2b	C	T	11: 5,947,890 (GRCm39)	D112N	possibly damaging	Het
Eml6	A	G	11: 29,771,699 (GRCm39)	V664A	probably benign	Het
Gstm2	T	C	3: 107,892,369 (GRCm39)	D119G	possibly damaging	Het
Hic2	T	C	16: 17,075,695 (GRCm39)	F175L	probably benign	Het
Ifi214	T	C	1: 173,356,891 (GRCm39)	I71V	probably damaging	Het
Igkv17-121	G	A	6: 68,013,848 (GRCm39)	C16Y	unknown	Het
Inpp4a	T	C	1: 37,416,798 (GRCm39)	S435P	probably damaging	Het
Irgm1	A	G	11: 48,757,353 (GRCm39)	S153P	probably damaging	Het
Lactb	A	T	9: 66,878,180 (GRCm39)	S216R	probably damaging	Het
Nol7	A	G	13: 43,552,216 (GRCm39)	K87R	probably benign	Het
Or9m2	T	A	2: 87,820,933 (GRCm39)	H159Q	probably benign	Het
Patj	G	T	4: 98,344,448 (GRCm39)	G18W	probably damaging	Het
Pjvk	G	T	2: 76,486,259 (GRCm39)	G220C	probably damaging	Het
Prtg	T	C	9: 72,819,219 (GRCm39)	Y1071H	probably damaging	Het
Psmb8	C	A	17: 34,417,517 (GRCm39)	Q49K	probably benign	Het
Rhcg	C	A	7: 79,248,346 (GRCm39)	L419F	probably benign	Het
Slc6a5	A	G	7: 49,564,601 (GRCm39)		probably benign	Het
Slc9a9	A	G	9: 95,111,003 (GRCm39)	D607G	probably benign	Het
Tenm2	G	A	11: 35,914,710 (GRCm39)	L2275F	probably damaging	Het
Thoc1	A	G	18: 9,993,429 (GRCm39)	D596G	probably benign	Het
Tie1	A	G	4: 118,341,835 (GRCm39)	F205L	probably damaging	Het
Traf7	G	A	17: 24,729,473 (GRCm39)	S446F	probably damaging	Het
Tsnaxip1	A	T	8: 106,564,148 (GRCm39)	Q116L	probably damaging	Het
Wdr47	T	C	3: 108,534,520 (GRCm39)	S480P	probably damaging	Het

Other mutations in Trnt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00819:Trnt1	APN	6	106,753,183 (GRCm39)	nonsense	probably null
IGL00915:Trnt1	APN	6	106,756,387 (GRCm39)	missense	probably benign	0.00
IGL02102:Trnt1	APN	6	106,755,073 (GRCm39)	critical splice donor site	probably null
IGL02610:Trnt1	APN	6	106,755,779 (GRCm39)	missense	possibly damaging	0.88
IGL02933:Trnt1	APN	6	106,750,387 (GRCm39)	missense	probably benign	0.40
R0606:Trnt1	UTSW	6	106,754,869 (GRCm39)	unclassified	probably benign
R0844:Trnt1	UTSW	6	106,751,464 (GRCm39)	missense	probably damaging	1.00
R2144:Trnt1	UTSW	6	106,755,000 (GRCm39)	missense	probably damaging	1.00
R2495:Trnt1	UTSW	6	106,750,330 (GRCm39)	missense	possibly damaging	0.88
R4994:Trnt1	UTSW	6	106,755,853 (GRCm39)	nonsense	probably null
R5294:Trnt1	UTSW	6	106,750,375 (GRCm39)	missense	probably damaging	1.00
R5742:Trnt1	UTSW	6	106,755,878 (GRCm39)	nonsense	probably null
R6855:Trnt1	UTSW	6	106,754,883 (GRCm39)	missense	probably damaging	1.00
R7491:Trnt1	UTSW	6	106,755,865 (GRCm39)	missense	probably benign
R7492:Trnt1	UTSW	6	106,751,493 (GRCm39)	missense	possibly damaging	0.76
R7880:Trnt1	UTSW	6	106,746,517 (GRCm39)	critical splice donor site	probably null
R8212:Trnt1	UTSW	6	106,746,832 (GRCm39)	missense	probably benign
R8863:Trnt1	UTSW	6	106,751,443 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04