Mutagenetix > Incidental Mutation

Incidental Mutation 'R6969:Dnttip2'

543361

Institutional Source

Beutler Lab

Gene Symbol

Dnttip2

Ensembl Gene

ENSMUSG00000039756

Gene Name

deoxynucleotidyltransferase, terminal, interacting protein 2

Synonyms

4930588M11Rik

MMRRC Submission

045079-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R6969 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122068045-122078920 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122076141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 691 (Q691R)

Ref Sequence

ENSEMBL: ENSMUSP00000045043 (fasta)

Gene Model

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

AlphaFold

Q8R2M2

Predicted Effect

probably damaging
Transcript: ENSMUST00000035776
AA Change: Q691R

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

SMART Domains

Protein: ENSMUSP00000045043
Gene: ENSMUSG00000039756
AA Change: Q691R

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

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.1%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,958,317 (GRCm39)	L800H	unknown	Het
Ap2b1	T	A	11: 83,280,552 (GRCm39)	D788E	probably damaging	Het
Arfgef1	G	T	1: 10,223,904 (GRCm39)	Q1465K	probably damaging	Het
Arfgef1	T	C	1: 10,223,903 (GRCm39)	Q1465R	probably damaging	Het
Arhgap9	G	A	10: 127,162,512 (GRCm39)	E348K	probably benign	Het
B4galnt2	A	T	11: 95,782,756 (GRCm39)	F19I	probably benign	Het
Bdp1	A	T	13: 100,211,039 (GRCm39)	I551N	probably damaging	Het
Ceacam16	A	G	7: 19,586,230 (GRCm39)	*427Q	probably null	Het
Chd9	A	C	8: 91,705,542 (GRCm39)	Q260P	probably benign	Het
Col16a1	A	T	4: 129,986,880 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 17,266,805 (GRCm39)	N40K	possibly damaging	Het
Depdc5	T	G	5: 33,141,204 (GRCm39)	V1368G	probably damaging	Het
Dnah7b	C	A	1: 46,397,398 (GRCm39)	P3943Q	probably damaging	Het
Dusp10	T	C	1: 183,801,085 (GRCm39)	L284P	probably damaging	Het
Efr3b	A	G	12: 4,018,624 (GRCm39)	V574A	probably benign	Het
Erc2	A	T	14: 27,620,553 (GRCm39)	I60F	probably damaging	Het
Exoc2	A	G	13: 31,095,161 (GRCm39)	V245A	probably benign	Het
Fasl	G	T	1: 161,609,244 (GRCm39)	F37L	probably damaging	Het
Fat3	G	A	9: 15,941,212 (GRCm39)	P1360S	probably benign	Het
Gpsm1	C	T	2: 26,230,555 (GRCm39)	P502S	probably benign	Het
Gtpbp10	C	A	5: 5,605,331 (GRCm39)	G124V	probably damaging	Het
Insm2	T	C	12: 55,646,963 (GRCm39)	C236R	probably damaging	Het
Irf2bpl	A	G	12: 86,929,468 (GRCm39)	Y402H	possibly damaging	Het
Irx6	A	G	8: 93,403,958 (GRCm39)	E175G	probably damaging	Het
Kcnh8	C	T	17: 53,184,971 (GRCm39)	R418*	probably null	Het
Kif3c	G	A	12: 3,416,114 (GRCm39)	R45Q	probably benign	Het
Larp7-ps	A	G	4: 92,079,826 (GRCm39)	I54T	probably damaging	Het
Lpin1	A	G	12: 16,630,862 (GRCm39)	F12S	probably damaging	Het
Lrba	A	T	3: 86,526,897 (GRCm39)	T156S	probably benign	Het
Lrrc19	G	T	4: 94,527,610 (GRCm39)	N200K	probably benign	Het
Lrrc7	G	A	3: 157,862,550 (GRCm39)	H1296Y	probably benign	Het
Ltn1	A	T	16: 87,212,578 (GRCm39)	F661Y	probably damaging	Het
Macf1	T	C	4: 123,351,593 (GRCm39)	Y1893C	probably benign	Het
Mmd	G	C	11: 90,148,362 (GRCm39)	A15P	probably damaging	Het
Myh2	T	C	11: 67,088,092 (GRCm39)	F1903L	probably benign	Het
Myom3	T	C	4: 135,528,371 (GRCm39)	L1072P	probably damaging	Het
Or13l2	A	T	3: 97,318,118 (GRCm39)	Y126*	probably null	Het
Or56a41	T	C	7: 104,740,463 (GRCm39)	I128V	probably benign	Het
Or5bw2	G	A	7: 6,573,320 (GRCm39)	C110Y	probably damaging	Het
Or7g35	A	T	9: 19,495,886 (GRCm39)	T18S	possibly damaging	Het
Patl2	A	T	2: 121,959,410 (GRCm39)	V18D	possibly damaging	Het
Pkn1	T	C	8: 84,410,055 (GRCm39)	S395G	probably damaging	Het
Ptprm	A	G	17: 67,219,413 (GRCm39)	I726T	possibly damaging	Het
Rab3gap2	T	C	1: 184,968,209 (GRCm39)	L187P	probably damaging	Het
Ric1	A	T	19: 29,563,182 (GRCm39)	E535V	probably damaging	Het
Ripor3	T	C	2: 167,827,657 (GRCm39)	K598R	probably benign	Het
Rnf40	A	G	7: 127,195,495 (GRCm39)	E607G	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Sbsn	A	G	7: 30,452,616 (GRCm39)	T544A	probably benign	Het
Scaf1	C	A	7: 44,657,253 (GRCm39)		probably benign	Het
Sec24a	T	C	11: 51,591,643 (GRCm39)	M1018V	probably benign	Het
Shmt1	C	T	11: 60,695,153 (GRCm39)	A54T	probably damaging	Het
Slc39a14	C	A	14: 70,546,275 (GRCm39)	V383F	probably damaging	Het
Slc5a2	A	G	7: 127,871,249 (GRCm39)	T346A	probably benign	Het
Slco4a1	G	A	2: 180,106,601 (GRCm39)	S261N	probably benign	Het
Smarcc1	C	G	9: 110,025,388 (GRCm39)	S688R	probably damaging	Het
Sppl2b	G	A	10: 80,700,959 (GRCm39)	A314T	probably damaging	Het
Sptb	A	T	12: 76,654,781 (GRCm39)	V1513E	probably damaging	Het
Stx17	A	T	4: 48,140,462 (GRCm39)	I56F	probably damaging	Het
Tbc1d9	A	G	8: 83,968,171 (GRCm39)	Y424C	probably damaging	Het
Tgm3	A	G	2: 129,883,949 (GRCm39)	K536E	probably benign	Het
Tti2	A	G	8: 31,644,329 (GRCm39)	I309V	possibly damaging	Het
Tymp	G	A	15: 89,258,251 (GRCm39)	S334L	probably benign	Het
Unc13b	T	C	4: 43,263,538 (GRCm39)	F1587L	possibly damaging	Het
Vgf	G	T	5: 137,060,507 (GRCm39)		probably benign	Het
Zfp59	T	C	7: 27,552,922 (GRCm39)	S125P	probably damaging	Het
Zfp641	A	T	15: 98,188,448 (GRCm39)	M144K	possibly damaging	Het
Zfp93	A	T	7: 23,974,806 (GRCm39)	K264*	probably null	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
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
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'- ATAACCCAGCAGGCAGTGTG -3'
(R):5'- GGTACCCATTATAAAACGGTGGC -3'

Sequencing Primer
(F):5'- TCTCACAGAGGGTCAGCTTG -3'
(R):5'- CCCATTATAAAACGGTGGCTATGTG -3'

Posted On

2018-11-28