Mutagenetix > Incidental Mutation

Incidental Mutation 'R1733:Dnttip2'

199460

Institutional Source

Beutler Lab

Gene Symbol

Dnttip2

Ensembl Gene

ENSMUSG00000039756

Gene Name

deoxynucleotidyltransferase, terminal, interacting protein 2

Synonyms

4930588M11Rik

MMRRC Submission

039765-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R1733 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122068045-122078920 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122070397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 537 (S537R)

Ref Sequence

ENSEMBL: ENSMUSP00000045043 (fasta)

Gene Model

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

AlphaFold

Q8R2M2

Predicted Effect

probably benign
Transcript: ENSMUST00000035776
AA Change: S537R

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000045043
Gene: ENSMUSG00000039756
AA Change: S537R

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: 97.5%
3x: 96.9%
10x: 95.2%
20x: 91.9%

Validation Efficiency

95% (95/100)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	G	18: 59,165,001 (GRCm39)	C1034W	probably damaging	Het
Agbl2	G	T	2: 90,641,089 (GRCm39)	K737N	probably damaging	Het
Aqp9	T	A	9: 71,019,624 (GRCm39)	I279F	possibly damaging	Het
Aspm	T	A	1: 139,384,855 (GRCm39)	N166K	probably benign	Het
Atp13a3	A	T	16: 30,176,084 (GRCm39)	I186N	probably benign	Het
Btaf1	A	T	19: 36,972,362 (GRCm39)	I1366L	probably benign	Het
Camk4	A	C	18: 33,211,074 (GRCm39)	K60Q	possibly damaging	Het
Card11	G	T	5: 140,892,388 (GRCm39)	Q226K	possibly damaging	Het
Ccdc187	T	C	2: 26,183,670 (GRCm39)	D110G	possibly damaging	Het
Col5a2	C	T	1: 45,446,192 (GRCm39)	R462Q	possibly damaging	Het
Cp	A	T	3: 20,022,383 (GRCm39)		probably benign	Het
Cpz	A	T	5: 35,675,102 (GRCm39)	V38E	probably damaging	Het
Cxcr6	G	A	9: 123,639,181 (GRCm39)	V68I	probably damaging	Het
Cyp2a22	C	A	7: 26,634,187 (GRCm39)	E322D	possibly damaging	Het
D130052B06Rik	C	T	11: 33,573,784 (GRCm39)	T127I	probably benign	Het
Daam2	T	A	17: 49,797,231 (GRCm39)	M185L	possibly damaging	Het
Dnaja3	G	A	16: 4,502,029 (GRCm39)	R11K	probably null	Het
Dock9	G	T	14: 121,864,292 (GRCm39)	H572Q	probably benign	Het
Dpp4	T	A	2: 62,203,213 (GRCm39)		probably null	Het
Enc1	T	G	13: 97,381,550 (GRCm39)	I20S	possibly damaging	Het
Ephb6	T	A	6: 41,596,654 (GRCm39)	H900Q	probably benign	Het
Ercc3	T	C	18: 32,400,218 (GRCm39)	V690A	possibly damaging	Het
Fam90a1a	C	T	8: 22,453,385 (GRCm39)	Q247*	probably null	Het
Fkbp10	G	A	11: 100,314,757 (GRCm39)	R423H	probably benign	Het
Fus	A	G	7: 127,580,717 (GRCm39)	M265V	probably benign	Het
Gas2l3	T	A	10: 89,250,127 (GRCm39)	K330N	probably damaging	Het
Gpam	T	G	19: 55,069,901 (GRCm39)	L410F	probably damaging	Het
Gpr37l1	A	T	1: 135,089,273 (GRCm39)	V264E	possibly damaging	Het
Grk6	A	T	13: 55,600,979 (GRCm39)		probably benign	Het
Gsto1	G	T	19: 47,843,674 (GRCm39)	V19F	probably damaging	Het
H1f7	G	T	15: 98,154,016 (GRCm39)	Q378K	unknown	Het
Hgfac	G	A	5: 35,201,018 (GRCm39)	C194Y	probably damaging	Het
Hivep1	A	G	13: 42,311,407 (GRCm39)	N1216D	probably damaging	Het
Hrg	C	T	16: 22,769,997 (GRCm39)	A42V	probably damaging	Het
Irx4	A	G	13: 73,414,824 (GRCm39)	D136G	probably benign	Het
Kcnn3	G	T	3: 89,559,397 (GRCm39)	V556L	probably benign	Het
Klk1b8	T	C	7: 43,451,545 (GRCm39)	Y179H	possibly damaging	Het
Klrb1f	T	A	6: 129,031,322 (GRCm39)	L173*	probably null	Het
Kremen2	A	T	17: 23,962,373 (GRCm39)		probably null	Het
Krt25	A	T	11: 99,207,378 (GRCm39)	Y400*	probably null	Het
Lingo4	A	T	3: 94,310,485 (GRCm39)	R474S	probably benign	Het
Lnpep	T	C	17: 17,773,575 (GRCm39)	K599E	probably benign	Het
Mapk8ip3	A	T	17: 25,155,824 (GRCm39)	M2K	possibly damaging	Het
Mat2b	A	T	11: 40,570,904 (GRCm39)	S307T	probably benign	Het
Mcph1	C	A	8: 18,681,979 (GRCm39)	A372D	probably benign	Het
Mfsd6	T	A	1: 52,748,524 (GRCm39)	I114F	probably damaging	Het
Mlkl	A	G	8: 112,049,380 (GRCm39)	S248P	probably damaging	Het
Mmrn1	A	T	6: 60,954,085 (GRCm39)	T789S	probably benign	Het
Mphosph8	A	G	14: 56,930,916 (GRCm39)	Y735C	probably damaging	Het
Mrc1	T	A	2: 14,261,910 (GRCm39)	Y300N	probably damaging	Het
Mrps11	A	G	7: 78,442,460 (GRCm39)	H180R	probably damaging	Het
Msh4	T	C	3: 153,573,404 (GRCm39)	D556G	probably damaging	Het
Myh10	C	A	11: 68,693,122 (GRCm39)	D1472E	probably benign	Het
Myo16	T	C	8: 10,492,283 (GRCm39)	S742P	probably damaging	Het
Nlrp5-ps	C	T	7: 14,316,978 (GRCm39)		noncoding transcript	Het
Nrp1	C	T	8: 129,194,974 (GRCm39)	P477S	probably benign	Het
Oplah	G	T	15: 76,186,683 (GRCm39)	C665*	probably null	Het
Or4f14b	T	A	2: 111,775,625 (GRCm39)	M59L	probably benign	Het
Or4f54	T	C	2: 111,123,210 (GRCm39)	V199A	probably damaging	Het
Or51b17	T	C	7: 103,542,118 (GRCm39)	S275G	probably benign	Het
Or8g22	G	T	9: 38,958,678 (GRCm39)	H57N	unknown	Het
Otogl	T	C	10: 107,619,573 (GRCm39)	T1696A	possibly damaging	Het
Pdzrn4	A	G	15: 92,299,855 (GRCm39)	I242V	probably benign	Het
Phgdh	G	A	3: 98,235,451 (GRCm39)	T141I	probably benign	Het
Pigv	T	C	4: 133,392,237 (GRCm39)	Y311C	probably damaging	Het
Pik3c2a	T	G	7: 116,017,755 (GRCm39)	M1L	possibly damaging	Het
Pitpnm1	A	T	19: 4,159,960 (GRCm39)	K760*	probably null	Het
Pnrc1	G	A	4: 33,246,438 (GRCm39)	H174Y	probably damaging	Het
Ptgis	A	G	2: 167,033,888 (GRCm39)		probably benign	Het
Ptpn4	T	C	1: 119,643,773 (GRCm39)		probably null	Het
Rin3	T	A	12: 102,335,589 (GRCm39)	L420*	probably null	Het
Sacs	T	G	14: 61,442,903 (GRCm39)	F1650V	probably damaging	Het
Sbno2	T	A	10: 79,894,342 (GRCm39)	N1081Y	possibly damaging	Het
Sema5b	C	T	16: 35,466,737 (GRCm39)	P213L	probably damaging	Het
Sharpin	T	C	15: 76,232,136 (GRCm39)	K240R	probably benign	Het
Skint6	T	A	4: 113,034,234 (GRCm39)		probably benign	Het
Slc4a2	A	G	5: 24,634,565 (GRCm39)	E68G	probably damaging	Het
Srcin1	C	T	11: 97,424,327 (GRCm39)	V634I	probably benign	Het
Srsf10	T	A	4: 135,590,476 (GRCm39)	F134I	possibly damaging	Het
Stab1	C	A	14: 30,867,260 (GRCm39)	G1700V	probably damaging	Het
Sun1	T	G	5: 139,216,544 (GRCm39)	C290W	possibly damaging	Het
Svs6	T	A	2: 164,159,577 (GRCm39)		probably benign	Het
Tmem8b	G	A	4: 43,690,228 (GRCm39)		probably null	Het
Usp49	A	G	17: 47,983,238 (GRCm39)	D81G	probably damaging	Het
Vmn1r215	T	A	13: 23,260,848 (GRCm39)	V296D	probably benign	Het
Vmn1r6	T	A	6: 56,979,607 (GRCm39)	S90T	probably damaging	Het
Wbp2	A	G	11: 115,974,709 (GRCm39)	F42L	probably benign	Het
Wdr20rt	C	T	12: 65,274,055 (GRCm39)	T333I	possibly damaging	Het
Zfp341	C	T	2: 154,483,298 (GRCm39)	A552V	probably benign	Het
Zfp607b	A	T	7: 27,391,949 (GRCm39)	H8L	possibly damaging	Het
Zfp758	G	T	17: 22,594,830 (GRCm39)	D439Y	probably damaging	Het
Zfp946	T	C	17: 22,672,538 (GRCm39)	Y46H	probably damaging	Het
Zic2	G	A	14: 122,716,359 (GRCm39)	E432K	probably 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
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
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'- CAGCAGTCTGACAGCAGTGAGAATG -3'
(R):5'- TTGTAATGGAAATGAGGCCCCACC -3'

Sequencing Primer
(F):5'- GTGTTCTGTTGAAAACAATGGC -3'
(R):5'- CTTCAGTGGTACAGCACTAACTAGTC -3'

Posted On

2014-05-23