Mutagenetix > Incidental Mutation

Incidental Mutation 'R0122:Dntt'

21135

Institutional Source

Beutler Lab

Gene Symbol

Dntt

Ensembl Gene

ENSMUSG00000025014

Gene Name

deoxynucleotidyltransferase, terminal

Synonyms

Tdt

MMRRC Submission

038407-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0122 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

41017714-41047964 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41041477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 387 (K387R)

Ref Sequence

ENSEMBL: ENSMUSP00000107819 (fasta)

Gene Model

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

AlphaFold

P09838

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051806
AA Change: K387R

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000062078
Gene: ENSMUSG00000025014
AA Change: K387R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112200
AA Change: K387R

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107819
Gene: ENSMUSG00000025014
AA Change: K387R

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

Meta Mutation Damage Score

0.0866

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

99% (78/79)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
Adam12	T	A	7: 133,614,077 (GRCm39)	I60F	probably benign	Het
Adamts10	A	G	17: 33,747,454 (GRCm39)		probably benign	Het
Adamts12	C	T	15: 11,215,710 (GRCm39)	R244C	probably damaging	Het
Adamts7	A	G	9: 90,061,474 (GRCm39)	E360G	probably damaging	Het
Atn1	A	T	6: 124,720,197 (GRCm39)		probably benign	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
Baz2b	G	T	2: 59,743,963 (GRCm39)		probably null	Het
Bloc1s6	G	C	2: 122,587,963 (GRCm39)		probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
C1qa	T	A	4: 136,625,142 (GRCm39)	T3S	probably benign	Het
Cacna1e	A	T	1: 154,319,647 (GRCm39)	F1351Y	probably damaging	Het
Car9	C	T	4: 43,512,206 (GRCm39)	A356V	probably benign	Het
Ccdc116	T	A	16: 16,960,598 (GRCm39)	D73V	probably damaging	Het
Ces2g	T	C	8: 105,694,932 (GRCm39)	Y518H	probably damaging	Het
Ciz1	A	G	2: 32,261,431 (GRCm39)		probably benign	Het
Cmc1	A	T	9: 117,894,388 (GRCm39)	C29S	probably damaging	Het
Coil	T	A	11: 88,875,833 (GRCm39)		probably benign	Het
Col3a1	C	T	1: 45,380,057 (GRCm39)		probably benign	Het
Cox15	A	G	19: 43,737,229 (GRCm39)	I135T	possibly damaging	Het
Cyld	T	C	8: 89,468,920 (GRCm39)	S564P	probably damaging	Het
Dnah5	T	A	15: 28,378,509 (GRCm39)	N2948K	probably damaging	Het
Dnah7a	G	A	1: 53,436,301 (GRCm39)	R4014W	probably damaging	Het
Dnmt3b	T	C	2: 153,518,618 (GRCm39)	Y594H	probably damaging	Het
Efcab7	G	A	4: 99,749,560 (GRCm39)		probably benign	Het
Flvcr1	G	T	1: 190,753,423 (GRCm39)	P250T	possibly damaging	Het
Gga2	C	A	7: 121,590,797 (GRCm39)	V504L	probably damaging	Het
Gm12239	T	A	11: 55,906,738 (GRCm39)		noncoding transcript	Het
Gm6327	T	C	16: 12,578,890 (GRCm39)		noncoding transcript	Het
Krt26	G	T	11: 99,224,545 (GRCm39)	Y324*	probably null	Het
Lamb2	A	T	9: 108,363,713 (GRCm39)	H939L	probably benign	Het
Lipo3	C	T	19: 33,600,086 (GRCm39)		probably benign	Het
Mmp1b	G	A	9: 7,386,689 (GRCm39)	T145M	probably damaging	Het
Mrps27	G	T	13: 99,501,736 (GRCm39)	V76L	probably benign	Het
Mup6	T	A	4: 60,003,995 (GRCm39)	Y29*	probably null	Het
Nlrc3	T	C	16: 3,776,822 (GRCm39)	K756E	probably damaging	Het
Nnt	T	C	13: 119,505,133 (GRCm39)	H527R	probably damaging	Het
Nudt8	T	C	19: 4,051,306 (GRCm39)	V59A	probably benign	Het
Ofcc1	A	T	13: 40,434,032 (GRCm39)		probably null	Het
Or10d1	A	T	9: 39,484,020 (GRCm39)	D178E	probably damaging	Het
Or2a25	T	C	6: 42,888,889 (GRCm39)	V144A	probably benign	Het
Or51q1c	T	C	7: 103,652,565 (GRCm39)	W28R	probably damaging	Het
Pdgfd	T	C	9: 6,293,851 (GRCm39)	S142P	probably damaging	Het
Pias4	G	T	10: 80,992,921 (GRCm39)	Q22K	probably damaging	Het
Pin1	T	C	9: 20,573,600 (GRCm39)	I95T	probably benign	Het
Pramel23	A	T	4: 143,424,974 (GRCm39)	D156E	probably benign	Het
Prickle2	G	A	6: 92,388,326 (GRCm39)	Q359*	probably null	Het
Qrich2	G	T	11: 116,337,639 (GRCm39)	Q1950K	possibly damaging	Het
Rab10	C	A	12: 3,359,357 (GRCm39)	G21V	probably damaging	Het
Rbm27	T	A	18: 42,447,033 (GRCm39)		probably benign	Het
Samd4	C	A	14: 47,254,017 (GRCm39)	S160R	probably benign	Het
Scube3	A	C	17: 28,385,502 (GRCm39)		probably benign	Het
Serpinf2	A	G	11: 75,327,372 (GRCm39)	L185P	probably damaging	Het
Slc16a12	A	G	19: 34,652,264 (GRCm39)	I294T	probably benign	Het
Slc45a3	T	A	1: 131,905,478 (GRCm39)	M167K	probably damaging	Het
Sspo	T	A	6: 48,450,910 (GRCm39)	L2673Q	possibly damaging	Het
Supt3	A	G	17: 45,314,028 (GRCm39)	D139G	probably damaging	Het
Tas1r3	T	C	4: 155,945,290 (GRCm39)	M644V	probably benign	Het
Tgfbi	A	G	13: 56,775,781 (GRCm39)	T276A	probably damaging	Het
Tmem177	T	C	1: 119,838,308 (GRCm39)	I124V	probably benign	Het
Tmprss11f	G	T	5: 86,681,484 (GRCm39)		probably benign	Het
Tmprss3	G	A	17: 31,412,876 (GRCm39)		probably benign	Het
Twf1	A	G	15: 94,484,430 (GRCm39)		probably benign	Het
Uba52	T	A	8: 70,961,951 (GRCm39)	Q166L	probably damaging	Het
Ubr3	G	T	2: 69,809,756 (GRCm39)	G1242V	probably damaging	Het
Unc13d	C	T	11: 115,956,308 (GRCm39)	S835N	probably benign	Het
Ush2a	A	G	1: 188,680,652 (GRCm39)	K4877E	possibly damaging	Het
Vmn2r98	A	G	17: 19,286,662 (GRCm39)	I387V	probably benign	Het
Vps11	A	T	9: 44,265,809 (GRCm39)	I490N	probably damaging	Het
Vstm4	T	A	14: 32,585,768 (GRCm39)		probably null	Het
Zfp110	C	A	7: 12,582,524 (GRCm39)	H391N	possibly damaging	Het
Zfp212	C	T	6: 47,907,957 (GRCm39)	P312L	possibly damaging	Het
Zfp329	A	T	7: 12,544,914 (GRCm39)	H203Q	probably damaging	Het
Zscan12	G	A	13: 21,553,139 (GRCm39)	G321E	probably damaging	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
R0106:Dntt	UTSW	19	41,044,185 (GRCm39)	splice site	probably benign
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

Predicted Primers

PCR Primer
(F):5'- TCTCCCAGATGCTGGATGAGGAAG -3'
(R):5'- TCGTGTGAACATGTGCCCATACC -3'

Sequencing Primer
(F):5'- TGAGGAAGAACAAAAAATGCATCCC -3'
(R):5'- GTAGCAGACAGCTCTTACTCTGG -3'

Posted On

2013-04-11