Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0106 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

41017714-41047964 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 41044185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107819 (fasta)

Gene Model

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

AlphaFold

P09838

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: 43,478,200 (GRCm39)		probably benign	Het
A730018C14Rik	A	T	12: 112,381,628 (GRCm39)		noncoding transcript	Het
Abca5	A	T	11: 110,210,651 (GRCm39)	L176Q	probably damaging	Het
Aspm	C	A	1: 139,404,614 (GRCm39)	Q1315K	probably benign	Het
Bpifb4	A	G	2: 153,782,888 (GRCm39)	D31G	probably benign	Het
Brf1	A	G	12: 112,937,083 (GRCm39)		probably benign	Het
Card19	A	C	13: 49,361,621 (GRCm39)	D3E	probably benign	Het
Chd6	A	G	2: 160,809,822 (GRCm39)	F1480L	probably damaging	Het
Cldn25	A	G	9: 48,958,933 (GRCm39)		noncoding transcript	Het
Col11a2	A	G	17: 34,276,249 (GRCm39)	N799D	probably damaging	Het
Cpb1	T	C	3: 20,320,697 (GRCm39)		probably null	Het
Cyp2g1	T	A	7: 26,513,607 (GRCm39)	I182N	probably damaging	Het
Dscc1	C	A	15: 54,946,966 (GRCm39)	C253F	probably benign	Het
Dysf	C	A	6: 84,090,318 (GRCm39)	F956L	probably benign	Het
Ephb6	T	C	6: 41,596,528 (GRCm39)		probably benign	Het
Firrm	T	C	1: 163,810,380 (GRCm39)		probably benign	Het
Fkbp6	C	T	5: 135,368,858 (GRCm39)	R234Q	probably benign	Het
Gda	T	C	19: 21,374,920 (GRCm39)	D332G	probably benign	Het
Ggt7	C	T	2: 155,336,813 (GRCm39)	A560T	possibly damaging	Het
Glis3	A	T	19: 28,509,268 (GRCm39)	S239T	possibly damaging	Het
Glyctk	G	A	9: 106,033,168 (GRCm39)	P124L	probably benign	Het
Gm10845	T	A	14: 80,100,644 (GRCm39)		noncoding transcript	Het
H13	A	G	2: 152,528,176 (GRCm39)	K175R	probably benign	Het
Igsf6	T	A	7: 120,673,677 (GRCm39)	I18F	probably benign	Het
Immt	A	G	6: 71,828,828 (GRCm39)	S128G	probably benign	Het
Isy1	G	A	6: 87,796,167 (GRCm39)	R257W	probably damaging	Het
Kif13a	G	T	13: 46,978,823 (GRCm39)		probably benign	Het
L2hgdh	A	T	12: 69,752,563 (GRCm39)	Y239*	probably null	Het
Lamp1	A	G	8: 13,224,550 (GRCm39)	T405A	probably damaging	Het
Lpin1	A	T	12: 16,590,980 (GRCm39)	N817K	possibly damaging	Het
Macf1	G	A	4: 123,302,357 (GRCm39)	T715I	probably benign	Het
Mapk12	T	C	15: 89,017,187 (GRCm39)		probably benign	Het
Mdga2	A	T	12: 66,763,480 (GRCm39)	N205K	probably damaging	Het
Nat10	A	G	2: 103,587,550 (GRCm39)	V55A	probably damaging	Het
Nlrp10	T	C	7: 108,524,529 (GRCm39)	E317G	possibly damaging	Het
Nolc1	T	A	19: 46,068,528 (GRCm39)		probably benign	Het
Nomo1	T	C	7: 45,687,056 (GRCm39)	I72T	probably damaging	Het
Or5b98	A	G	19: 12,931,720 (GRCm39)	I256V	probably benign	Het
Pappa2	C	T	1: 158,542,547 (GRCm39)	C1780Y	probably damaging	Het
Pgm2l1	A	G	7: 99,899,580 (GRCm39)	M65V	probably benign	Het
Pnisr	T	C	4: 21,874,617 (GRCm39)		probably benign	Het
Prss34	A	T	17: 25,517,700 (GRCm39)	D25V	probably damaging	Het
Ptpn1	T	C	2: 167,818,338 (GRCm39)		probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pygb	A	G	2: 150,648,123 (GRCm39)	D119G	probably benign	Het
Racgap1	T	C	15: 99,540,839 (GRCm39)	T4A	possibly damaging	Het
Rap1gap2	A	G	11: 74,326,570 (GRCm39)	C166R	probably benign	Het
Rbm28	C	A	6: 29,127,802 (GRCm39)	V705L	probably benign	Het
Rgs1	C	T	1: 144,124,287 (GRCm39)	V50M	probably benign	Het
Rgs12	C	T	5: 35,124,008 (GRCm39)	T597I	probably benign	Het
Ros1	T	C	10: 52,018,363 (GRCm39)	N765S	possibly damaging	Het
Ruvbl1	A	G	6: 88,450,182 (GRCm39)	R58G	probably damaging	Het
Slc6a7	A	G	18: 61,135,295 (GRCm39)	V411A	probably benign	Het
Slco1a6	A	T	6: 142,103,116 (GRCm39)		probably benign	Het
Smc1b	A	T	15: 84,955,020 (GRCm39)	D1077E	probably damaging	Het
Srek1	G	A	13: 103,880,131 (GRCm39)	H476Y	unknown	Het
Strn3	A	G	12: 51,668,571 (GRCm39)	V673A	probably benign	Het
Tepsin	T	C	11: 119,982,637 (GRCm39)		probably null	Het
Tmem131l	C	T	3: 83,842,122 (GRCm39)		probably benign	Het
Tmem132c	T	C	5: 127,631,733 (GRCm39)	V664A	possibly damaging	Het
Tmprss15	T	C	16: 78,800,277 (GRCm39)	D602G	probably damaging	Het
Trbv15	T	C	6: 41,118,199 (GRCm39)		probably benign	Het
Trpm4	A	G	7: 44,968,664 (GRCm39)		probably null	Het
Wdr70	A	T	15: 8,049,068 (GRCm39)		probably null	Het

Other mutations in Dntt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00827:Dntt	APN	19	41,028,262 (GRCm39)	missense	probably benign	0.01
IGL01531:Dntt	APN	19	41,041,677 (GRCm39)	nonsense	probably null
IGL01859:Dntt	APN	19	41,025,743 (GRCm39)	missense	probably benign
IGL02053:Dntt	APN	19	41,034,713 (GRCm39)	missense	probably benign	0.00
IGL02411:Dntt	APN	19	41,041,424 (GRCm39)	splice site	probably null
IGL03180:Dntt	APN	19	41,017,990 (GRCm39)	missense	probably benign	0.09
catbird	UTSW	19	41,041,672 (GRCm39)	missense	probably damaging	1.00
mimetic	UTSW	19	41,025,578 (GRCm39)	splice site	probably benign
wren	UTSW	19	41,044,197 (GRCm39)	critical splice acceptor site	probably null
R0122:Dntt	UTSW	19	41,041,477 (GRCm39)	missense	possibly damaging	0.95
R0194:Dntt	UTSW	19	41,027,409 (GRCm39)	missense	possibly damaging	0.90
R0266:Dntt	UTSW	19	41,047,566 (GRCm39)	missense	probably damaging	0.99
R0377:Dntt	UTSW	19	41,036,066 (GRCm39)	nonsense	probably null
R0412:Dntt	UTSW	19	41,031,372 (GRCm39)	missense	probably damaging	1.00
R0604:Dntt	UTSW	19	41,041,588 (GRCm39)	missense	probably benign	0.01
R1350:Dntt	UTSW	19	41,025,578 (GRCm39)	splice site	probably benign
R1577:Dntt	UTSW	19	41,044,224 (GRCm39)	missense	probably damaging	1.00
R1677:Dntt	UTSW	19	41,017,923 (GRCm39)	missense	probably benign	0.26
R2567:Dntt	UTSW	19	41,029,775 (GRCm39)	missense	possibly damaging	0.81
R4380:Dntt	UTSW	19	41,041,672 (GRCm39)	missense	probably damaging	1.00
R4703:Dntt	UTSW	19	41,028,242 (GRCm39)	missense	probably benign	0.00
R4999:Dntt	UTSW	19	41,028,295 (GRCm39)	missense	probably damaging	0.99
R6257:Dntt	UTSW	19	41,041,501 (GRCm39)	missense	probably damaging	1.00
R6757:Dntt	UTSW	19	41,025,601 (GRCm39)	missense	probably damaging	1.00
R7340:Dntt	UTSW	19	41,047,004 (GRCm39)	critical splice acceptor site	probably null
R7388:Dntt	UTSW	19	41,027,418 (GRCm39)	missense	probably benign	0.01
R7553:Dntt	UTSW	19	41,017,926 (GRCm39)	missense	probably damaging	0.99
R7806:Dntt	UTSW	19	41,018,071 (GRCm39)	missense	probably benign	0.02
R8145:Dntt	UTSW	19	41,044,224 (GRCm39)	missense	probably damaging	1.00
R8940:Dntt	UTSW	19	41,046,990 (GRCm39)	intron	probably benign
R9085:Dntt	UTSW	19	41,044,220 (GRCm39)	missense	probably damaging	1.00
R9110:Dntt	UTSW	19	41,044,197 (GRCm39)	critical splice acceptor site	probably null
R9378:Dntt	UTSW	19	41,027,356 (GRCm39)	missense	probably benign	0.05
YA93:Dntt	UTSW	19	41,041,626 (GRCm39)	missense	probably benign
Z1177:Dntt	UTSW	19	41,044,254 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-01-31