Mutagenetix > Incidental Mutation

Incidental Mutation 'R6855:Trnt1'

535197

Institutional Source

Beutler Lab

Gene Symbol

Trnt1

Ensembl Gene

ENSMUSG00000013736

Gene Name

tRNA nucleotidyl transferase, CCA-adding, 1

Synonyms

CGI-47, 2610044E04Rik, 2410043H24Rik

MMRRC Submission

045024-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R6855 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106746099-106759435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106754883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 205 (Y205N)

Ref Sequence

ENSEMBL: ENSMUSP00000108875 (fasta)

Gene Model

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

AlphaFold

Q8K1J6

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 damaging
Transcript: ENSMUST00000057578
AA Change: Y205N

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

SMART Domains

Protein: ENSMUSP00000060900
Gene: ENSMUSG00000013736
AA Change: Y205N

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 damaging
Transcript: ENSMUST00000113248
AA Change: Y205N

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

SMART Domains

Protein: ENSMUSP00000108874
Gene: ENSMUSG00000013736
AA Change: Y205N

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: Y205N

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

SMART Domains

Protein: ENSMUSP00000108875
Gene: ENSMUSG00000013736
AA Change: Y205N

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (57/57)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	G	A	6: 23,114,844 (GRCm39)	S228F	probably damaging	Het
Cdh23	A	T	10: 60,141,901 (GRCm39)	M3062K	possibly damaging	Het
Cdh8	G	C	8: 99,916,849 (GRCm39)	S422C	probably damaging	Het
Col15a1	G	T	4: 47,245,544 (GRCm39)	K98N	probably damaging	Het
Cyp3a57	T	A	5: 145,309,376 (GRCm39)	L238H	probably damaging	Het
Dchs2	G	A	3: 83,255,501 (GRCm39)	R2399H	probably benign	Het
Dennd4c	A	C	4: 86,754,694 (GRCm39)	H1568P	probably benign	Het
Dkk2	T	G	3: 131,883,683 (GRCm39)	C194W	probably damaging	Het
Dnm2	C	T	9: 21,387,881 (GRCm39)	R369C	probably damaging	Het
Efcab7	T	G	4: 99,757,777 (GRCm39)	L308*	probably null	Het
Elp2	T	A	18: 24,739,934 (GRCm39)	N53K	possibly damaging	Het
Eml6	T	C	11: 29,701,381 (GRCm39)		probably null	Het
Erich3	G	T	3: 154,468,286 (GRCm39)	E913*	probably null	Het
Fam186a	T	A	15: 99,852,756 (GRCm39)	Y154F	unknown	Het
Fhl3	G	A	4: 124,601,315 (GRCm39)	D113N	probably benign	Het
Fryl	A	T	5: 73,216,843 (GRCm39)	M2149K	probably damaging	Het
Gbf1	T	C	19: 46,268,380 (GRCm39)	Y1251H	probably benign	Het
Ghitm	C	A	14: 36,847,859 (GRCm39)	G262W	probably null	Het
Gm14325	T	A	2: 177,474,635 (GRCm39)	H148L	probably damaging	Het
Grxcr1	C	A	5: 68,189,437 (GRCm39)	N69K	possibly damaging	Het
Itprid2	C	T	2: 79,488,049 (GRCm39)	R711C	probably damaging	Het
Kcnma1	A	G	14: 23,417,679 (GRCm39)	I846T	probably damaging	Het
Lama1	A	G	17: 68,089,150 (GRCm39)	Y1607C	possibly damaging	Het
Lrp1b	G	C	2: 40,518,708 (GRCm39)	H175D	possibly damaging	Het
Lrrc2	T	A	9: 110,782,250 (GRCm39)		probably null	Het
Mpp3	A	G	11: 101,904,151 (GRCm39)	F291L	probably benign	Het
Nek7	C	T	1: 138,443,420 (GRCm39)	G178R	probably damaging	Het
Nfil3	T	A	13: 53,122,641 (GRCm39)	K88*	probably null	Het
Nit1	A	C	1: 171,171,130 (GRCm39)	V194G	probably damaging	Het
Nup210	T	C	6: 91,017,835 (GRCm39)	M1052V	probably benign	Het
Nup210l	A	G	3: 90,044,231 (GRCm39)	T511A	probably benign	Het
Nwd2	G	T	5: 63,961,794 (GRCm39)	M459I	probably benign	Het
Or8k31-ps1	T	C	2: 86,356,513 (GRCm39)	N3D	probably benign	Het
Peg3	A	C	7: 6,711,797 (GRCm39)	S1142A	probably benign	Het
Phf3	T	A	1: 30,859,204 (GRCm39)	K959N	probably damaging	Het
Piezo2	C	T	18: 63,223,950 (GRCm39)		probably null	Het
Pigz	A	G	16: 31,764,036 (GRCm39)	I365V	possibly damaging	Het
Plec	T	A	15: 76,070,818 (GRCm39)	Q860L	probably damaging	Het
Poglut2	C	A	1: 44,149,987 (GRCm39)	E401*	probably null	Het
Ppp5c	T	G	7: 16,740,891 (GRCm39)	D359A	possibly damaging	Het
Pvr	C	T	7: 19,643,139 (GRCm39)	A365T	possibly damaging	Het
Pygm	G	T	19: 6,443,787 (GRCm39)	G583C	probably damaging	Het
Rasa3	A	T	8: 13,635,029 (GRCm39)	L430Q	probably damaging	Het
Rims2	T	G	15: 39,208,911 (GRCm39)	V198G	probably benign	Het
Rnf38	C	T	4: 44,149,224 (GRCm39)	R41H	probably damaging	Het
Rptn	G	A	3: 93,305,558 (GRCm39)	V964I	probably benign	Het
Rrp1b	A	G	17: 32,271,719 (GRCm39)	D263G	probably benign	Het
Sgip1	T	C	4: 102,819,573 (GRCm39)	C560R	probably damaging	Het
Shisal2b	T	C	13: 105,000,214 (GRCm39)	Q3R	probably benign	Het
Sidt1	A	C	16: 44,065,706 (GRCm39)	I734S	probably null	Het
Ssh1	G	T	5: 114,080,636 (GRCm39)	D931E	probably damaging	Het
Thumpd2	C	A	17: 81,351,599 (GRCm39)	R274I	probably damaging	Het
Tpi1	T	C	6: 124,789,426 (GRCm39)	D183G	probably damaging	Het
Tsc22d2	G	A	3: 58,324,235 (GRCm39)	V376M	probably damaging	Het
Usp34	T	C	11: 23,402,569 (GRCm39)	V2454A	possibly damaging	Het
Uspl1	C	A	5: 149,124,655 (GRCm39)	S24Y	probably damaging	Het
Vmn1r58	A	C	7: 5,413,451 (GRCm39)	W260G	possibly damaging	Het
Vmn2r62	T	A	7: 42,438,412 (GRCm39)	L141F	probably benign	Het
Zfp868	A	C	8: 70,064,230 (GRCm39)	H368Q	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
IGL01821:Trnt1	APN	6	106,751,436 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GTCTATGGTTGGTTGATACCTCAGC -3'
(R):5'- GCTAGAAATTCACACCCTTATAACCTG -3'

Sequencing Primer
(F):5'- GGTTGATACCTCAGCTAGATGTAGAC -3'
(R):5'- TGTGAGGAGCCACACCAAGATC -3'

Posted On

2018-09-12