Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03180:Dntt'

412194

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dntt

Ensembl Gene

ENSMUSG00000025014

Gene Name

deoxynucleotidyltransferase, terminal

Synonyms

Tdt

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03180

Quality Score

Status

Chromosome

Chromosomal Location

41017714-41047964 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41017990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 38 (F38Y)

Ref Sequence

ENSEMBL: ENSMUSP00000107819 (fasta)

Gene Model

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

AlphaFold

P09838

Predicted Effect

probably benign
Transcript: ENSMUST00000051806
AA Change: F38Y

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000062078
Gene: ENSMUSG00000025014
AA Change: F38Y

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
AA Change: F38Y

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000107819
Gene: ENSMUSG00000025014
AA Change: F38Y

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

Coding Region Coverage

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,082,951 (GRCm39)	Y321H	probably benign	Het
Adam28	T	A	14: 68,874,883 (GRCm39)	I265L	probably damaging	Het
Adcy8	T	C	15: 64,655,799 (GRCm39)	D560G	possibly damaging	Het
Aff3	A	G	1: 38,574,743 (GRCm39)	M79T	probably damaging	Het
Ahctf1	A	G	1: 179,602,895 (GRCm39)		probably null	Het
Aspn	C	T	13: 49,716,991 (GRCm39)	R256W	probably damaging	Het
Birc6	T	C	17: 74,966,226 (GRCm39)	V4051A	probably benign	Het
Cfap46	G	A	7: 139,183,168 (GRCm39)	L2584F	unknown	Het
Chdh	T	A	14: 29,756,559 (GRCm39)		probably null	Het
Clasp1	A	G	1: 118,433,255 (GRCm39)	T245A	probably benign	Het
Clec4a1	G	A	6: 122,901,777 (GRCm39)	V70I	probably benign	Het
Cpt2	A	T	4: 107,764,157 (GRCm39)	S536T	probably damaging	Het
Dnah9	A	T	11: 65,777,465 (GRCm39)	H3694Q	probably damaging	Het
Dync2i1	T	C	12: 116,182,485 (GRCm39)	S706G	probably benign	Het
Eif4ebp2	T	C	10: 61,269,589 (GRCm39)	E117G	probably damaging	Het
Eif5b	T	C	1: 38,075,350 (GRCm39)	I609T	probably damaging	Het
Esam	G	A	9: 37,445,866 (GRCm39)	G135S	probably damaging	Het
Fut7	C	A	2: 25,315,465 (GRCm39)	A241D	possibly damaging	Het
Grin2d	T	A	7: 45,502,753 (GRCm39)	K706M	probably damaging	Het
Grip2	A	G	6: 91,762,742 (GRCm39)		probably benign	Het
Gtf2ird2	A	G	5: 134,220,087 (GRCm39)	T22A	probably damaging	Het
Hadh	T	C	3: 131,065,533 (GRCm39)	I42V	probably benign	Het
Iqsec3	T	A	6: 121,390,467 (GRCm39)		probably benign	Het
Izumo3	G	A	4: 92,034,524 (GRCm39)		probably benign	Het
Ldlrad1	G	T	4: 107,075,032 (GRCm39)	C193F	probably damaging	Het
Lgals4	G	A	7: 28,537,053 (GRCm39)	G118R	probably damaging	Het
Map4k1	A	C	7: 28,687,510 (GRCm39)	E136A	probably damaging	Het
Mapk8ip1	G	T	2: 92,217,257 (GRCm39)	P346Q	possibly damaging	Het
Mrtfb	A	G	16: 13,216,196 (GRCm39)	K303E	probably damaging	Het
Nlrp14	T	A	7: 106,781,833 (GRCm39)	H343Q	probably benign	Het
Ogg1	T	G	6: 113,310,455 (GRCm39)		probably null	Het
Or12k8	C	T	2: 36,975,722 (GRCm39)	V13M	possibly damaging	Het
Or5m10	A	T	2: 85,717,740 (GRCm39)	M199L	probably benign	Het
Pacc1	G	T	1: 191,071,089 (GRCm39)	V82F	probably damaging	Het
Pafah1b1	A	T	11: 74,574,344 (GRCm39)	C281S	possibly damaging	Het
Papss1	C	T	3: 131,313,143 (GRCm39)	R386W	probably damaging	Het
Pex5	A	G	6: 124,390,522 (GRCm39)		probably benign	Het
Pibf1	C	A	14: 99,370,780 (GRCm39)	Q261K	probably benign	Het
Plcb3	T	C	19: 6,933,521 (GRCm39)	S935G	probably benign	Het
Polg	A	G	7: 79,101,601 (GRCm39)		probably benign	Het
Ptpdc1	G	A	13: 48,739,553 (GRCm39)	T626I	probably damaging	Het
Rab34	A	T	11: 78,081,144 (GRCm39)	Y87F	probably damaging	Het
Rsrc1	T	G	3: 66,989,876 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,583,449 (GRCm39)	N4735S	possibly damaging	Het
Scn7a	T	C	2: 66,506,578 (GRCm39)	D1437G	possibly damaging	Het
Sdk1	A	G	5: 142,071,497 (GRCm39)	E1229G	probably damaging	Het
Sez6l	A	T	5: 112,584,151 (GRCm39)	V806D	probably damaging	Het
Sgsm2	A	C	11: 74,759,401 (GRCm39)		probably null	Het
Sla	A	G	15: 66,661,569 (GRCm39)	I121T	probably benign	Het
Son	T	C	16: 91,453,896 (GRCm39)	L881S	probably damaging	Het
Srms	A	G	2: 180,854,573 (GRCm39)		probably benign	Het
Stoml1	T	C	9: 58,168,200 (GRCm39)	S304P	probably damaging	Het
Stt3a	T	C	9: 36,670,552 (GRCm39)	D73G	probably damaging	Het
Tpp1	T	C	7: 105,395,856 (GRCm39)	T558A	probably benign	Het
Trp53i13	T	C	11: 77,403,528 (GRCm39)		probably benign	Het
Vmn2r77	A	G	7: 86,450,843 (GRCm39)	Y243C	possibly damaging	Het
Vwde	T	C	6: 13,205,764 (GRCm39)	D261G	probably damaging	Het
Zfpm2	A	G	15: 40,964,790 (GRCm39)	K293R	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
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
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

2016-08-02