Incidental Mutation 'R4410:Dnttip1'
ID 327847
Institutional Source Beutler Lab
Gene Symbol Dnttip1
Ensembl Gene ENSMUSG00000017299
Gene Name deoxynucleotidyltransferase, terminal, interacting protein 1
Synonyms
MMRRC Submission 041692-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4410 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 164745983-164768607 bp(+) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 164767819 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000085581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001439] [ENSMUST00000017443] [ENSMUST00000088248]
AlphaFold Q99LB0
Predicted Effect probably benign
Transcript: ENSMUST00000001439
SMART Domains Protein: ENSMUSP00000001439
Gene: ENSMUSG00000001403

DomainStartEndE-ValueType
low complexity region 9 16 N/A INTRINSIC
UBCc 33 170 8.8e-56 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000017443
SMART Domains Protein: ENSMUSP00000017443
Gene: ENSMUSG00000017299

DomainStartEndE-ValueType
low complexity region 10 30 N/A INTRINSIC
Blast:UBCc 91 157 4e-16 BLAST
low complexity region 158 172 N/A INTRINSIC
Blast:UBCc 248 287 1e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000088248
SMART Domains Protein: ENSMUSP00000085581
Gene: ENSMUSG00000001403

DomainStartEndE-ValueType
low complexity region 9 16 N/A INTRINSIC
UBCc 33 175 1.88e-64 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124435
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146846
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 96% (46/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DNTTIP1 binds DNA and enhances the activity of terminal deoxynucleotidyltransferase (TDT, or DNTT; MIM 187410), a DNA polymerase that catalyzes the polymerization of DNA in the absence of a DNA template (Yamashita et al., 2001 [PubMed 11473582]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap39 A T 15: 76,725,512 probably benign Het
Arrb1 G T 7: 99,598,296 probably benign Het
Cadps A G 14: 12,822,323 M139T probably damaging Het
Casr A G 16: 36,500,341 C482R probably benign Het
Cdca4 A T 12: 112,821,879 H76Q probably benign Het
Ddias A G 7: 92,858,079 L876P probably benign Het
Dnah9 T C 11: 66,085,477 S1249G possibly damaging Het
Eme2 A G 17: 24,893,624 S160P probably benign Het
Fbxw24 A T 9: 109,608,188 D210E probably damaging Het
Folr2 T C 7: 101,840,674 E129G probably damaging Het
Gm7682 A T 5: 94,445,861 Q15L probably benign Het
Herc6 T A 6: 57,659,679 N793K possibly damaging Het
Iqcg T G 16: 33,030,816 K262Q possibly damaging Het
Lhfpl3 A G 5: 22,775,692 probably benign Het
Lmod2 A C 6: 24,604,630 S535R probably damaging Het
Lrp1b T A 2: 40,665,082 S342C possibly damaging Het
Lrrn3 T A 12: 41,452,584 Y578F possibly damaging Het
Map3k4 T A 17: 12,248,998 R1050W probably damaging Het
Mpp6 C T 6: 50,198,268 Q520* probably null Het
Muc6 T A 7: 141,637,663 T2301S possibly damaging Het
Mycbp2 T C 14: 103,135,266 E4048G probably damaging Het
Myh3 G C 11: 67,085,032 E297Q possibly damaging Het
Nkain3 A G 4: 20,778,284 V11A probably benign Het
Olfr1189 G A 2: 88,592,421 V206I probably benign Het
P3h2 G C 16: 26,105,290 R132G possibly damaging Het
Phgdh A G 3: 98,314,275 M447T probably benign Het
Pmfbp1 G A 8: 109,532,063 A667T probably benign Het
Psmd2 T G 16: 20,655,026 C230G probably damaging Het
Rin2 C T 2: 145,860,446 T354I probably benign Het
Slc37a3 T A 6: 39,338,813 Y443F probably benign Het
Sorl1 C A 9: 42,003,992 G1314* probably null Het
Spag7 T C 11: 70,664,862 D83G probably damaging Het
St7 C T 6: 17,854,933 R267* probably null Het
Syne2 C T 12: 76,094,393 S99L probably damaging Het
Tacc2 T G 7: 130,742,211 S2533R possibly damaging Het
Tmem59l A G 8: 70,487,301 L6S unknown Het
Uaca T G 9: 60,869,891 V518G probably damaging Het
Usp43 T C 11: 67,855,890 E992G probably benign Het
Vmn1r55 A G 7: 5,147,076 V116A probably benign Het
Wdr3 G A 3: 100,140,227 T844M probably benign Het
Wdr7 T A 18: 63,778,249 M904K probably damaging Het
Zbtb39 A G 10: 127,742,827 I423M possibly damaging Het
Zmym1 A T 4: 127,048,104 C830* probably null Het
Other mutations in Dnttip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5991:Dnttip1 UTSW 2 164754180 missense possibly damaging 0.69
R6688:Dnttip1 UTSW 2 164765161 missense probably damaging 1.00
R7363:Dnttip1 UTSW 2 164757685 frame shift probably null
R7547:Dnttip1 UTSW 2 164767879 missense probably benign 0.10
R7665:Dnttip1 UTSW 2 164754141 missense probably damaging 0.96
R7904:Dnttip1 UTSW 2 164747552 missense probably benign 0.05
R9140:Dnttip1 UTSW 2 164754162 missense possibly damaging 0.64
R9489:Dnttip1 UTSW 2 164751242 missense probably benign 0.06
R9747:Dnttip1 UTSW 2 164765180 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGCATCATCTTCCCAGGACATTAC -3'
(R):5'- AAGTGTAGTAGCCAGGACACC -3'

Sequencing Primer
(F):5'- CCCAGGACATTACTAATATTTGGTG -3'
(R):5'- ACACCCGGCTCAGGTCTG -3'
Posted On 2015-07-07