Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00535:Dnttip2'

10262

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnttip2

Ensembl Gene

ENSMUSG00000039756

Gene Name

deoxynucleotidyltransferase, terminal, interacting protein 2

Synonyms

4930588M11Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

IGL00535

Quality Score

Status

Chromosome

Chromosomal Location

122068045-122078920 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122078148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 727 (R727W)

Ref Sequence

ENSEMBL: ENSMUSP00000045043 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035776]

AlphaFold

Q8R2M2

Predicted Effect

probably damaging
Transcript: ENSMUST00000035776
AA Change: R727W

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

SMART Domains

Protein: ENSMUSP00000045043
Gene: ENSMUSG00000039756
AA Change: R727W

Domain	Start	End	E-Value	Type
low complexity region	125	143	N/A	INTRINSIC
low complexity region	447	458	N/A	INTRINSIC
coiled coil region	513	541	N/A	INTRINSIC
low complexity region	550	565	N/A	INTRINSIC
Pfam:Fcf2	639	733	3.4e-41	PFAM
low complexity region	748	756	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000072769

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199060

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199449

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199627

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 thought to be involved in chromatin remodeling and gene transcription. The encoded nuclear protein binds to and enhances the transcriptional activity of the estrogen receptor alpha, and also interacts with terminal deoxynucleotidyltransferase. The expression profile of this gene is a potential biomarker for chronic obstructive pulmonary disease. [provided by RefSeq, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	T	G	17: 79,935,328 (GRCm39)		probably benign	Het
Armc3	A	G	2: 19,308,669 (GRCm39)	E767G	possibly damaging	Het
Btaf1	A	T	19: 36,974,935 (GRCm39)	D1403V	probably damaging	Het
Chd2	C	A	7: 73,190,576 (GRCm39)	M2I	probably benign	Het
Cyp2r1	C	A	7: 114,151,061 (GRCm39)	M419I	probably benign	Het
Gtf3c1	G	T	7: 125,243,325 (GRCm39)	H1760N	probably benign	Het
Iffo1	C	T	6: 125,137,516 (GRCm39)	A532V	probably damaging	Het
Ints6	T	C	14: 62,940,628 (GRCm39)	D574G	probably damaging	Het
Rims1	A	T	1: 22,503,172 (GRCm39)	S671T	probably benign	Het
Sp2	C	T	11: 96,845,387 (GRCm39)	R578H	probably damaging	Het
Spam1	T	A	6: 24,796,722 (GRCm39)	Y224*	probably null	Het
Spata6l	T	A	19: 28,937,073 (GRCm39)		probably benign	Het
Spata7	A	C	12: 98,635,099 (GRCm39)	E345A	probably damaging	Het
Tbc1d32	A	G	10: 56,091,221 (GRCm39)		probably benign	Het
Tex28	T	C	X: 73,204,647 (GRCm39)	H215R	probably damaging	Het
Tmigd3	A	T	3: 105,824,384 (GRCm39)	R118*	probably null	Het
Wnk4	T	A	11: 101,155,175 (GRCm39)	M362K	probably damaging	Het

Other mutations in Dnttip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Dnttip2	APN	3	122,068,939 (GRCm39)	missense	probably benign	0.03
IGL01120:Dnttip2	APN	3	122,072,386 (GRCm39)	splice site	probably benign
IGL01341:Dnttip2	APN	3	122,070,261 (GRCm39)	missense	probably damaging	1.00
IGL01636:Dnttip2	APN	3	122,076,123 (GRCm39)	missense	possibly damaging	0.95
IGL01988:Dnttip2	APN	3	122,069,944 (GRCm39)	missense	probably benign	0.05
IGL02096:Dnttip2	APN	3	122,078,062 (GRCm39)	missense	possibly damaging	0.51
IGL02216:Dnttip2	APN	3	122,069,910 (GRCm39)	missense	probably benign	0.01
IGL03234:Dnttip2	APN	3	122,076,087 (GRCm39)	missense	probably damaging	1.00
Abyss	UTSW	3	122,069,870 (GRCm39)	missense	probably damaging	0.99
Chasm	UTSW	3	122,069,457 (GRCm39)	missense	probably damaging	1.00
R0089:Dnttip2	UTSW	3	122,069,111 (GRCm39)	missense	possibly damaging	0.59
R0102:Dnttip2	UTSW	3	122,069,452 (GRCm39)	missense	probably benign	0.00
R0102:Dnttip2	UTSW	3	122,069,452 (GRCm39)	missense	probably benign	0.00
R0195:Dnttip2	UTSW	3	122,069,810 (GRCm39)	missense	probably benign	0.02
R1103:Dnttip2	UTSW	3	122,070,071 (GRCm39)	missense	probably benign	0.02
R1733:Dnttip2	UTSW	3	122,070,397 (GRCm39)	missense	probably benign	0.25
R1759:Dnttip2	UTSW	3	122,069,798 (GRCm39)	missense	probably benign	0.21
R2019:Dnttip2	UTSW	3	122,074,393 (GRCm39)	missense	possibly damaging	0.93
R2022:Dnttip2	UTSW	3	122,069,870 (GRCm39)	missense	probably damaging	1.00
R2415:Dnttip2	UTSW	3	122,070,186 (GRCm39)	missense	probably damaging	1.00
R3913:Dnttip2	UTSW	3	122,069,040 (GRCm39)	missense	possibly damaging	0.68
R4194:Dnttip2	UTSW	3	122,074,410 (GRCm39)	missense	probably damaging	1.00
R4367:Dnttip2	UTSW	3	122,070,146 (GRCm39)	missense	probably damaging	1.00
R4871:Dnttip2	UTSW	3	122,078,750 (GRCm39)	missense	probably damaging	1.00
R4888:Dnttip2	UTSW	3	122,070,241 (GRCm39)	missense	probably damaging	1.00
R5082:Dnttip2	UTSW	3	122,069,590 (GRCm39)	missense	probably damaging	0.98
R5436:Dnttip2	UTSW	3	122,072,418 (GRCm39)	missense	probably damaging	1.00
R5483:Dnttip2	UTSW	3	122,070,446 (GRCm39)	missense	probably damaging	0.97
R5933:Dnttip2	UTSW	3	122,069,217 (GRCm39)	missense	probably benign	0.07
R5966:Dnttip2	UTSW	3	122,078,817 (GRCm39)	utr 3 prime	probably benign
R6171:Dnttip2	UTSW	3	122,072,511 (GRCm39)	missense	probably damaging	0.99
R6251:Dnttip2	UTSW	3	122,068,905 (GRCm39)	missense	probably benign	0.14
R6286:Dnttip2	UTSW	3	122,078,049 (GRCm39)	missense	probably damaging	1.00
R6512:Dnttip2	UTSW	3	122,069,172 (GRCm39)	missense	possibly damaging	0.67
R6519:Dnttip2	UTSW	3	122,069,120 (GRCm39)	missense	probably benign	0.05
R6670:Dnttip2	UTSW	3	122,069,870 (GRCm39)	missense	probably damaging	0.99
R6833:Dnttip2	UTSW	3	122,070,452 (GRCm39)	missense	probably damaging	0.99
R6870:Dnttip2	UTSW	3	122,069,457 (GRCm39)	missense	probably damaging	1.00
R6969:Dnttip2	UTSW	3	122,076,141 (GRCm39)	missense	probably damaging	1.00
R7038:Dnttip2	UTSW	3	122,070,181 (GRCm39)	nonsense	probably null
R7233:Dnttip2	UTSW	3	122,070,039 (GRCm39)	missense	probably benign	0.26
R7423:Dnttip2	UTSW	3	122,069,175 (GRCm39)	missense	probably benign
R7591:Dnttip2	UTSW	3	122,070,117 (GRCm39)	nonsense	probably null
R7765:Dnttip2	UTSW	3	122,069,594 (GRCm39)	missense	probably benign	0.09
R7842:Dnttip2	UTSW	3	122,069,990 (GRCm39)	missense	probably benign	0.03
R7899:Dnttip2	UTSW	3	122,076,018 (GRCm39)	missense	probably damaging	1.00
R8408:Dnttip2	UTSW	3	122,070,351 (GRCm39)	missense	probably damaging	1.00
R8753:Dnttip2	UTSW	3	122,074,398 (GRCm39)	missense	probably damaging	0.98
R9165:Dnttip2	UTSW	3	122,070,355 (GRCm39)	missense	probably benign
Z1189:Dnttip2	UTSW	3	122,070,305 (GRCm39)	missense	probably damaging	0.96

Posted On

2012-12-06