Mutagenetix > Incidental Mutations

Incidental Mutation 'R0106:Dntt'

17380

Institutional Source

Beutler Lab

Gene Symbol

Dntt

Ensembl Gene

ENSMUSG00000025014

Gene Name

deoxynucleotidyltransferase, terminal

Synonyms

Tdt

MMRRC Submission

038392-MU

Accession Numbers

Genbank: NM_009345 ; MGI: 98659

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0106 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

41029275-41059523 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 41055746 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107819 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051806] [ENSMUST00000112200]

Predicted Effect

probably benign
Transcript: ENSMUST00000051806

SMART Domains

Protein: ENSMUSP00000062078
Gene: ENSMUSG00000025014

Domain	Start	End	E-Value	Type
BRCT	29	114	3.05e-9	SMART
POLXc	163	529	5.68e-196	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112200

SMART Domains

Protein: ENSMUSP00000107819
Gene: ENSMUSG00000025014

Domain	Start	End	E-Value	Type
BRCT	29	114	3.05e-9	SMART
POLXc	163	509	1.19e-198	SMART

Coding Region Coverage

1x: 87.6%
3x: 83.1%
10x: 68.0%
20x: 43.0%

Validation Efficiency

97% (89/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the DNA polymerase type-X family and encodes a template-independent DNA polymerase that catalyzes the addition of deoxynucleotides to the 3'-hydroxyl terminus of oligonucleotide primers. In vivo, the encoded protein is expressed in a restricted population of normal and malignant pre-B and pre-T lymphocytes during early differentiation, where it generates antigen receptor diversity by synthesizing non-germ line elements (N-regions) at the junctions of rearranged Ig heavy chain and T cell receptor gene segments. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene results in lack of "N" nucleotide insertions at the junctions of immunoglobulin and T cell receptor V(D)J rearrangements. Forced expression of terminal deoxynucleotidyl transferase in fetal thymus leads to decreased gamma-delta T cell number. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted, knock-out(2) Targeted, other(2)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	A	T	11: 43,587,373		probably benign	Het
A730018C14Rik	A	T	12: 112,415,194		noncoding transcript	Het
Abca5	A	T	11: 110,319,825	L176Q	probably damaging	Het
Aspm	C	A	1: 139,476,876	Q1315K	probably benign	Het
BC055324	T	C	1: 163,982,811		probably benign	Het
Bpifb4	A	G	2: 153,940,968	D31G	probably benign	Het
Brf1	A	G	12: 112,973,463		probably benign	Het
Card19	A	C	13: 49,208,145	D3E	probably benign	Het
Chd6	A	G	2: 160,967,902	F1480L	probably damaging	Het
Cldn25-ps	A	G	9: 49,047,633		noncoding transcript	Het
Col11a2	A	G	17: 34,057,275	N799D	probably damaging	Het
Cpb1	T	C	3: 20,266,533		probably null	Het
Cyp2g1	T	A	7: 26,814,182	I182N	probably damaging	Het
Dscc1	C	A	15: 55,083,570	C253F	probably benign	Het
Dysf	C	A	6: 84,113,336	F956L	probably benign	Het
Ephb6	T	C	6: 41,619,594		probably benign	Het
Fkbp6	C	T	5: 135,340,004	R234Q	probably benign	Het
Gda	T	C	19: 21,397,556	D332G	probably benign	Het
Ggt7	C	T	2: 155,494,893	A560T	possibly damaging	Het
Glis3	A	T	19: 28,531,868	S239T	possibly damaging	Het
Glyctk	G	A	9: 106,155,969	P124L	probably benign	Het
Gm10845	T	A	14: 79,863,204		noncoding transcript	Het
H13	A	G	2: 152,686,256	K175R	probably benign	Het
Igsf6	T	A	7: 121,074,454	I18F	probably benign	Het
Immt	A	G	6: 71,851,844	S128G	probably benign	Het
Isy1	G	A	6: 87,819,185	R257W	probably damaging	Het
Kif13a	G	T	13: 46,825,347		probably benign	Het
L2hgdh	A	T	12: 69,705,789	Y239*	probably null	Het
Lamp1	A	G	8: 13,174,550	T405A	probably damaging	Het
Lpin1	A	T	12: 16,540,979	N817K	possibly damaging	Het
Macf1	G	A	4: 123,408,564	T715I	probably benign	Het
Mapk12	T	C	15: 89,132,984		probably benign	Het
Mdga2	A	T	12: 66,716,706	N205K	probably damaging	Het
Nat10	A	G	2: 103,757,205	V55A	probably damaging	Het
Nlrp10	T	C	7: 108,925,322	E317G	possibly damaging	Het
Nolc1	T	A	19: 46,080,089		probably benign	Het
Nomo1	T	C	7: 46,037,632	I72T	probably damaging	Het
Olfr1450	A	G	19: 12,954,356	I256V	probably benign	Het
Pappa2	C	T	1: 158,714,977	C1780Y	probably damaging	Het
Pgm2l1	A	G	7: 100,250,373	M65V	probably benign	Het
Pnisr	T	C	4: 21,874,617		probably benign	Het
Prss34	A	T	17: 25,298,726	D25V	probably damaging	Het
Ptpn1	T	C	2: 167,976,418		probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Pygb	A	G	2: 150,806,203	D119G	probably benign	Het
Racgap1	T	C	15: 99,642,958	T4A	possibly damaging	Het
Rap1gap2	A	G	11: 74,435,744	C166R	probably benign	Het
Rbm28	C	A	6: 29,127,803	V705L	probably benign	Het
Rgs1	C	T	1: 144,248,549	V50M	probably benign	Het
Rgs12	C	T	5: 34,966,664	T597I	probably benign	Het
Ros1	T	C	10: 52,142,267	N765S	possibly damaging	Het
Ruvbl1	A	G	6: 88,473,200	R58G	probably damaging	Het
Slc6a7	A	G	18: 61,002,223	V411A	probably benign	Het
Slco1a6	A	T	6: 142,157,390		probably benign	Het
Smc1b	A	T	15: 85,070,819	D1077E	probably damaging	Het
Srek1	G	A	13: 103,743,623	H476Y	unknown	Het
Strn3	A	G	12: 51,621,788	V673A	probably benign	Het
Tepsin	T	C	11: 120,091,811		probably null	Het
Tmem131l	C	T	3: 83,934,815		probably benign	Het
Tmem132c	T	C	5: 127,554,669	V664A	possibly damaging	Het
Tmprss15	T	C	16: 79,003,389	D602G	probably damaging	Het
Trbv15	T	C	6: 41,141,265		probably benign	Het
Trpm4	A	G	7: 45,319,240		probably null	Het
Wdr70	A	T	15: 8,019,587		probably null	Het

Other mutations in Dntt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00827:Dntt	APN	19	41039823	missense	probably benign	0.01
IGL01531:Dntt	APN	19	41053238	nonsense	probably null
IGL01859:Dntt	APN	19	41037304	missense	probably benign
IGL02053:Dntt	APN	19	41046274	missense	probably benign	0.00
IGL02411:Dntt	APN	19	41052985	splice site	probably null
IGL03180:Dntt	APN	19	41029551	missense	probably benign	0.09
R0122:Dntt	UTSW	19	41053038	missense	possibly damaging	0.95
R0194:Dntt	UTSW	19	41038970	missense	possibly damaging	0.90
R0266:Dntt	UTSW	19	41059127	missense	probably damaging	0.99
R0377:Dntt	UTSW	19	41047627	nonsense	probably null
R0412:Dntt	UTSW	19	41042933	missense	probably damaging	1.00
R0604:Dntt	UTSW	19	41053149	missense	probably benign	0.01
R1350:Dntt	UTSW	19	41037139	splice site	probably benign
R1577:Dntt	UTSW	19	41055785	missense	probably damaging	1.00
R1677:Dntt	UTSW	19	41029484	missense	probably benign	0.26
R2567:Dntt	UTSW	19	41041336	missense	possibly damaging	0.81
R4380:Dntt	UTSW	19	41053233	missense	probably damaging	1.00
R4703:Dntt	UTSW	19	41039803	missense	probably benign	0.00
R4999:Dntt	UTSW	19	41039856	missense	probably damaging	0.99
R6257:Dntt	UTSW	19	41053062	missense	probably damaging	1.00
R6757:Dntt	UTSW	19	41037162	missense	probably damaging	1.00
R7340:Dntt	UTSW	19	41058565	critical splice acceptor site	probably null
R7388:Dntt	UTSW	19	41038979	missense	probably benign	0.01
R7553:Dntt	UTSW	19	41029487	missense	probably damaging	0.99
R7806:Dntt	UTSW	19	41029632	missense	probably benign	0.02
YA93:Dntt	UTSW	19	41053187	missense	probably benign
Z1177:Dntt	UTSW	19	41055815	missense	probably damaging	1.00

Posted On

2013-01-31