Mutagenetix > Incidental Mutation

Incidental Mutation 'R0195:Dnttip2'

23351

Institutional Source

Beutler Lab

Gene Symbol

Dnttip2

Ensembl Gene

ENSMUSG00000039756

Gene Name

deoxynucleotidyltransferase, terminal, interacting protein 2

Synonyms

4930588M11Rik

MMRRC Submission

038454-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R0195 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122068045-122078920 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122069810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 342 (T342S)

Ref Sequence

ENSEMBL: ENSMUSP00000045043 (fasta)

Gene Model

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

AlphaFold

Q8R2M2

Predicted Effect

probably benign
Transcript: ENSMUST00000035776
AA Change: T342S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000045043
Gene: ENSMUSG00000039756
AA Change: T342S

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: ENSMUST00000197215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199449

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199627

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.4%

Validation Efficiency

98% (156/160)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	C	G	11: 100,403,800 (GRCm39)	R362P	possibly damaging	Het
Adam24	T	A	8: 41,134,805 (GRCm39)	W758R	probably benign	Het
Adam26b	G	T	8: 43,973,307 (GRCm39)	T565K	probably damaging	Het
Adam7	T	G	14: 68,765,076 (GRCm39)		probably benign	Het
Adamts19	A	G	18: 59,102,942 (GRCm39)		probably benign	Het
Add1	A	G	5: 34,767,990 (GRCm39)		probably benign	Het
Ago1	A	G	4: 126,357,484 (GRCm39)	C64R	probably benign	Het
Ankrd12	C	T	17: 66,356,943 (GRCm39)		probably null	Het
Arhgef33	A	G	17: 80,688,863 (GRCm39)	K820E	probably damaging	Het
Arl9	T	C	5: 77,154,341 (GRCm39)	V8A	probably damaging	Het
Aspm	T	C	1: 139,406,873 (GRCm39)	L1920P	probably damaging	Het
Atad2	A	G	15: 57,963,350 (GRCm39)		probably benign	Het
Atp2b2	A	T	6: 113,770,835 (GRCm39)	V358E	probably benign	Het
C3ar1	A	C	6: 122,828,114 (GRCm39)	C34W	possibly damaging	Het
C6	G	A	15: 4,792,953 (GRCm39)	V353M	probably benign	Het
Capn7	T	C	14: 31,087,538 (GRCm39)	I593T	probably damaging	Het
Casc3	T	A	11: 98,712,319 (GRCm39)	D119E	probably damaging	Het
Ccna1	T	A	3: 54,961,785 (GRCm39)	E45V	probably damaging	Het
Cdc37	A	G	9: 21,053,576 (GRCm39)	V180A	probably benign	Het
Cdh23	A	G	10: 60,152,838 (GRCm39)	I2393T	probably damaging	Het
Cnbd1	T	C	4: 18,906,988 (GRCm39)		probably benign	Het
Cngb3	A	T	4: 19,280,975 (GRCm39)	M15L	probably benign	Het
Crygn	A	G	5: 24,961,036 (GRCm39)	M90T	possibly damaging	Het
Cse1l	T	A	2: 166,782,008 (GRCm39)	S661R	probably benign	Het
D830013O20Rik	C	T	12: 73,411,095 (GRCm39)		noncoding transcript	Het
Ddx24	C	T	12: 103,385,220 (GRCm39)		probably null	Het
Dnah3	A	T	7: 119,676,998 (GRCm39)		probably null	Het
Dnah9	C	T	11: 65,786,731 (GRCm39)	G3634E	probably benign	Het
Evx2	G	T	2: 74,489,388 (GRCm39)	R125S	probably damaging	Het
Fbxl5	A	T	5: 43,928,140 (GRCm39)	L40Q	probably damaging	Het
Git1	T	A	11: 77,391,899 (GRCm39)	D240E	probably benign	Het
Glp2r	T	A	11: 67,600,534 (GRCm39)	K438N	probably damaging	Het
Hivep1	T	A	13: 42,309,629 (GRCm39)	I623N	probably benign	Het
Il17re	A	G	6: 113,443,098 (GRCm39)	E312G	probably damaging	Het
Itgb7	G	A	15: 102,130,618 (GRCm39)		probably benign	Het
Itpr3	A	G	17: 27,333,088 (GRCm39)	Y1900C	probably damaging	Het
Krt1c	G	A	15: 101,721,626 (GRCm39)	Q472*	probably null	Het
Krtap5-1	A	C	7: 141,850,434 (GRCm39)	C125G	unknown	Het
Macf1	A	G	4: 123,328,709 (GRCm39)	S2554P	probably damaging	Het
Marchf10	C	T	11: 105,276,351 (GRCm39)	G646R	probably damaging	Het
Mrpl48	A	C	7: 100,195,560 (GRCm39)		probably benign	Het
Myo16	A	T	8: 10,365,538 (GRCm39)		probably benign	Het
Nrcam	A	T	12: 44,631,628 (GRCm39)	E1060D	probably benign	Het
Nsd3	T	A	8: 26,170,709 (GRCm39)	C731S	probably damaging	Het
Nup85	T	G	11: 115,455,357 (GRCm39)	M1R	probably null	Het
Nxnl2	G	T	13: 51,325,483 (GRCm39)	R42L	probably damaging	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Or13c25	G	A	4: 52,910,849 (GRCm39)	T315M	probably benign	Het
Orc1	C	T	4: 108,471,505 (GRCm39)	R786*	probably null	Het
P2ry6	A	T	7: 100,587,904 (GRCm39)	W152R	probably damaging	Het
Pex5l	T	C	3: 33,047,102 (GRCm39)	N283D	possibly damaging	Het
Pgk2	T	C	17: 40,518,622 (GRCm39)	I269V	probably benign	Het
Phgdh	T	G	3: 98,223,866 (GRCm39)		probably benign	Het
Pzp	A	T	6: 128,464,441 (GRCm39)	L1362Q	probably damaging	Het
Rbbp9	T	C	2: 144,390,026 (GRCm39)		probably benign	Het
Rffl	A	G	11: 82,700,989 (GRCm39)	L244P	probably damaging	Het
Serpina11	T	C	12: 103,952,131 (GRCm39)	Y213C	probably damaging	Het
Spopfm1	A	G	3: 94,173,229 (GRCm39)	Y79C	possibly damaging	Het
Srsf11	A	G	3: 157,742,172 (GRCm39)		probably benign	Het
Sspo	T	A	6: 48,463,570 (GRCm39)	V3785E	probably benign	Het
Svep1	A	T	4: 58,089,514 (GRCm39)	S1632T	possibly damaging	Het
Tm4sf1	T	A	3: 57,200,480 (GRCm39)	D74V	probably damaging	Het
Tmprss15	T	A	16: 78,831,222 (GRCm39)	T393S	probably benign	Het
Tnfaip3	A	G	10: 18,881,461 (GRCm39)	L275P	probably damaging	Het
Trim30c	A	G	7: 104,031,636 (GRCm39)	V393A	probably benign	Het
Tssk2	T	A	16: 17,717,439 (GRCm39)	S281T	probably benign	Het
Tubb4a	A	G	17: 57,388,499 (GRCm39)	S176P	probably damaging	Het
Unc45b	T	A	11: 82,828,654 (GRCm39)	M785K	probably damaging	Het
Vldlr	A	T	19: 27,215,786 (GRCm39)	D261V	probably damaging	Het
Vmn1r176	G	T	7: 23,535,010 (GRCm39)	Q48K	probably benign	Het
Vmn2r110	A	T	17: 20,794,317 (GRCm39)	L784Q	probably benign	Het
Vps13b	A	G	15: 35,472,045 (GRCm39)	T783A	probably benign	Het
Zfp800	A	G	6: 28,243,846 (GRCm39)	M373T	probably damaging	Het
Zmym1	A	G	4: 126,941,704 (GRCm39)	F895L	possibly damaging	Het

Other mutations in Dnttip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00535:Dnttip2	APN	3	122,078,148 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACAGTGACTTTGATGATTCCAGCCC -3'
(R):5'- TGCTGTCAGACTGCTGGCTTTC -3'

Sequencing Primer
(F):5'- TGATTCCAGCCCCAGAAATTCAG -3'
(R):5'- TCGTTGTcatcaccaccacc -3'

Posted On

2013-04-16