Incidental Mutation 'R7547:Dnttip1'
ID 584243
Institutional Source Beutler Lab
Gene Symbol Dnttip1
Ensembl Gene ENSMUSG00000017299
Gene Name deoxynucleotidyltransferase, terminal, interacting protein 1
Synonyms 6430706C13Rik
MMRRC Submission 045618-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7547 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 164587935-164610140 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 164609799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 289 (K289E)
Ref Sequence ENSEMBL: ENSMUSP00000017443 (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
AA Change: K289E

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000017443
Gene: ENSMUSG00000017299
AA Change: K289E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A T 4: 53,109,269 (GRCm39) D146E probably benign Het
Adgrl1 C T 8: 84,665,513 (GRCm39) A1400V probably benign Het
Ank2 A G 3: 126,738,852 (GRCm39) V2344A unknown Het
Anxa2r2 A T 13: 120,488,457 (GRCm39) F31I probably damaging Het
Aplnr A T 2: 84,967,521 (GRCm39) D182V probably damaging Het
Asb4 C T 6: 5,398,350 (GRCm39) P105L probably damaging Het
Ate1 C A 7: 130,106,539 (GRCm39) R274I probably benign Het
Ccdc43 A G 11: 102,582,948 (GRCm39) V92A probably benign Het
Cfap69 T A 5: 5,654,290 (GRCm39) N548I possibly damaging Het
Clpb A G 7: 101,313,503 (GRCm39) probably null Het
Ctnnal1 G A 4: 56,817,032 (GRCm39) R597C probably damaging Het
Dchs2 A G 3: 83,263,434 (GRCm39) K3234R probably damaging Het
Dnah7a T A 1: 53,702,996 (GRCm39) K151N probably benign Het
Dnah7b T A 1: 46,253,573 (GRCm39) I1826K possibly damaging Het
Eppk1 G T 15: 75,991,740 (GRCm39) Q1714K probably benign Het
Exoc4 A G 6: 33,816,056 (GRCm39) D674G possibly damaging Het
Galnt7 A T 8: 58,036,996 (GRCm39) V131D possibly damaging Het
Glg1 C T 8: 111,914,393 (GRCm39) V464M possibly damaging Het
Hlcs G T 16: 94,032,031 (GRCm39) S444* probably null Het
Larp1 G T 11: 57,943,405 (GRCm39) probably null Het
Macf1 T C 4: 123,335,410 (GRCm39) Y4386C probably damaging Het
Mapt A G 11: 104,213,138 (GRCm39) probably null Het
Neb C T 2: 52,172,637 (GRCm39) V1557I probably benign Het
Nid2 A G 14: 19,847,345 (GRCm39) T953A probably benign Het
Or5b105 T C 19: 13,080,407 (GRCm39) D87G not run Het
Pax3 G A 1: 78,099,231 (GRCm39) Q319* probably null Het
Ppp2r1b T A 9: 50,773,762 (GRCm39) S212R probably benign Het
Prss29 T C 17: 25,539,896 (GRCm39) L98P probably damaging Het
Ptch2 T G 4: 116,967,161 (GRCm39) L646R probably damaging Het
Rasa2 T A 9: 96,493,474 (GRCm39) E70V probably damaging Het
Serf2 A G 2: 121,281,256 (GRCm39) N65S possibly damaging Het
Serpinb6b G A 13: 33,158,907 (GRCm39) G155D probably benign Het
Serpinb6c A G 13: 34,077,875 (GRCm39) I165T possibly damaging Het
Skint5 A T 4: 113,483,785 (GRCm39) V949E unknown Het
Slc11a2 A G 15: 100,295,651 (GRCm39) I490T possibly damaging Het
Slx4 T C 16: 3,803,436 (GRCm39) D1126G probably benign Het
Tent4a G T 13: 69,681,823 (GRCm39) P160Q probably benign Het
Tln1 G T 4: 43,545,206 (GRCm39) A1003E possibly damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Trav21-dv12 T C 14: 54,114,072 (GRCm39) V64A probably damaging Het
U2surp T C 9: 95,361,402 (GRCm39) E620G possibly damaging Het
Usp3 T C 9: 66,449,906 (GRCm39) N179S possibly damaging Het
Vps13d T C 4: 144,784,108 (GRCm39) T3889A Het
Vps35 C T 8: 85,989,999 (GRCm39) V670M probably damaging Het
Zfp626 T C 7: 27,517,828 (GRCm39) S270P possibly damaging Het
Zfp955a C T 17: 33,461,797 (GRCm39) V112M probably benign Het
Zranb2 T C 3: 157,246,806 (GRCm39) S165P possibly damaging Het
Other mutations in Dnttip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4410:Dnttip1 UTSW 2 164,609,739 (GRCm39) unclassified probably benign
R5991:Dnttip1 UTSW 2 164,596,100 (GRCm39) missense possibly damaging 0.69
R6688:Dnttip1 UTSW 2 164,607,081 (GRCm39) missense probably damaging 1.00
R7363:Dnttip1 UTSW 2 164,599,605 (GRCm39) frame shift probably null
R7665:Dnttip1 UTSW 2 164,596,061 (GRCm39) missense probably damaging 0.96
R7904:Dnttip1 UTSW 2 164,589,472 (GRCm39) missense probably benign 0.05
R9140:Dnttip1 UTSW 2 164,596,082 (GRCm39) missense possibly damaging 0.64
R9489:Dnttip1 UTSW 2 164,593,162 (GRCm39) missense probably benign 0.06
R9747:Dnttip1 UTSW 2 164,607,100 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGCATCATCTTCCCAGGAC -3'
(R):5'- CAAATCCCCATGATGGCCTCAG -3'

Sequencing Primer
(F):5'- GTGTGAAATGAATCAAAGGCCTCCC -3'
(R):5'- CTCAGCCGGGTGGGGAAAG -3'
Posted On 2019-10-17