Incidental Mutation 'R3913:Dnttip2'
ID 309494
Institutional Source Beutler Lab
Gene Symbol Dnttip2
Ensembl Gene ENSMUSG00000039756
Gene Name deoxynucleotidyltransferase, terminal, interacting protein 2
Synonyms 4930588M11Rik
MMRRC Submission 040911-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R3913 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 122068045-122078920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122069040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 85 (V85A)
Ref Sequence ENSEMBL: ENSMUSP00000045043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029769] [ENSMUST00000035776]
AlphaFold Q8R2M2
Predicted Effect probably benign
Transcript: ENSMUST00000029769
SMART Domains Protein: ENSMUSP00000029769
Gene: ENSMUSG00000028124

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Pfam:Aldo_ket_red 70 237 2.6e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000035776
AA Change: V85A

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000045043
Gene: ENSMUSG00000039756
AA Change: V85A

DomainStartEndE-ValueType
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: ENSMUST00000197215
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199627
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (59/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh7 T A 3: 137,927,541 (GRCm39) V29E probably damaging Het
Adra1d T A 2: 131,404,075 (GRCm39) D5V probably damaging Het
Arid1b A G 17: 5,392,532 (GRCm39) I2021V possibly damaging Het
Birc6 A T 17: 74,880,608 (GRCm39) R462* probably null Het
Cchcr1 T C 17: 35,836,233 (GRCm39) V341A probably damaging Het
Cimip3 AC A 17: 47,744,348 (GRCm39) probably benign Het
Crybg1 T C 10: 43,874,759 (GRCm39) D783G possibly damaging Het
Dcaf15 T C 8: 84,825,794 (GRCm39) Y271C probably damaging Het
Dcun1d2 A C 8: 13,331,082 (GRCm39) M16R probably damaging Het
Dnah17 C T 11: 117,971,675 (GRCm39) probably benign Het
Eprs1 G A 1: 185,111,939 (GRCm39) probably null Het
Exoc7 T C 11: 116,197,731 (GRCm39) D27G probably benign Het
Gdpd5 A G 7: 99,087,546 (GRCm39) D70G probably null Het
Glyr1 A G 16: 4,849,777 (GRCm39) F199L probably damaging Het
Golga4 T A 9: 118,368,039 (GRCm39) M414K probably damaging Het
Gpr132 C A 12: 112,816,640 (GRCm39) W62L probably benign Het
Gpr179 A T 11: 97,225,591 (GRCm39) V2188E probably benign Het
Ilf3 C T 9: 21,309,422 (GRCm39) A526V possibly damaging Het
Ints10 T A 8: 69,266,272 (GRCm39) S478T probably damaging Het
Kcnab2 A G 4: 152,479,689 (GRCm39) V187A probably damaging Het
Kcnj15 C T 16: 95,097,329 (GRCm39) T317I probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klhl30 T C 1: 91,287,166 (GRCm39) V484A possibly damaging Het
Krt90 G A 15: 101,471,218 (GRCm39) R15W probably damaging Het
Liph G T 16: 21,781,009 (GRCm39) probably benign Het
Lrrc7 G A 3: 157,997,589 (GRCm39) L158F probably damaging Het
Maml1 T C 11: 50,154,259 (GRCm39) T602A probably benign Het
Mast4 A G 13: 102,895,177 (GRCm39) L782P probably damaging Het
Mei4 A G 9: 81,772,316 (GRCm39) K43R probably benign Het
Mettl4 A G 17: 95,047,960 (GRCm39) V227A probably benign Het
Mst1r G A 9: 107,791,945 (GRCm39) R827Q probably benign Het
Olfm1 A G 2: 28,098,186 (GRCm39) T83A possibly damaging Het
Or1e30 G T 11: 73,678,522 (GRCm39) G253W probably damaging Het
Or5m10b T C 2: 85,699,115 (GRCm39) Y60H probably damaging Het
Parp4 A G 14: 56,857,975 (GRCm39) E869G probably damaging Het
Pate4 C A 9: 35,523,140 (GRCm39) M1I probably null Het
Patj A G 4: 98,457,338 (GRCm39) D1280G probably damaging Het
Ppargc1b T C 18: 61,444,447 (GRCm39) S255G probably damaging Het
Rev3l A G 10: 39,696,552 (GRCm39) I521M probably damaging Het
Rlim T C X: 103,006,267 (GRCm39) T545A probably benign Het
Robo2 A T 16: 73,831,893 (GRCm39) D262E probably damaging Het
Sec14l5 A G 16: 4,965,720 (GRCm39) probably benign Het
Sema4b A G 7: 79,870,222 (GRCm39) S467G probably benign Het
Setd2 C T 9: 110,380,114 (GRCm39) R1310C probably damaging Het
Sh3d19 T C 3: 85,992,083 (GRCm39) I37T probably damaging Het
Slc23a3 T A 1: 75,105,566 (GRCm39) I422F probably benign Het
Snap91 T C 9: 86,674,610 (GRCm39) T534A possibly damaging Het
Son A T 16: 91,456,999 (GRCm39) probably benign Het
Tnks A T 8: 35,340,228 (GRCm39) S463R probably damaging Het
Tubb3 A G 8: 124,147,748 (GRCm39) H227R possibly damaging Het
Tyw1 T A 5: 130,287,876 (GRCm39) V36D probably damaging Het
Vwa5a T C 9: 38,646,039 (GRCm39) I469T probably damaging Het
Zdhhc8 A G 16: 18,044,587 (GRCm39) L311P possibly damaging Het
Other mutations in Dnttip2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GGTTTTCAGAGGTCTGCTCC -3'
(R):5'- TCTCTCTGTGGAAGGTACAACC -3'

Sequencing Primer
(F):5'- TCCTCGGAGAATTGGGACACATC -3'
(R):5'- TCTGTGGAAGGTACAACCATAGAAAC -3'
Posted On 2015-04-17