Incidental Mutation 'R5991:Dnttip1'
ID 482000
Institutional Source Beutler Lab
Gene Symbol Dnttip1
Ensembl Gene ENSMUSG00000017299
Gene Name deoxynucleotidyltransferase, terminal, interacting protein 1
Synonyms 6430706C13Rik
MMRRC Submission 044171-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5991 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 164587935-164610140 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 164596100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 115 (Q115L)
Ref Sequence ENSEMBL: ENSMUSP00000104950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017443] [ENSMUST00000109326] [ENSMUST00000109327]
AlphaFold Q99LB0
Predicted Effect probably benign
Transcript: ENSMUST00000017443
AA Change: Q115L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000017443
Gene: ENSMUSG00000017299
AA Change: Q115L

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: ENSMUST00000109326
SMART Domains Protein: ENSMUSP00000104949
Gene: ENSMUSG00000017299

DomainStartEndE-ValueType
low complexity region 10 30 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000109327
AA Change: Q115L

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104950
Gene: ENSMUSG00000017299
AA Change: Q115L

DomainStartEndE-ValueType
low complexity region 10 30 N/A INTRINSIC
Blast:UBCc 91 157 8e-17 BLAST
low complexity region 158 172 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124435
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135458
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146846
Meta Mutation Damage Score 0.0798 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.5%
Validation Efficiency 96% (53/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 G A 8: 111,777,032 (GRCm39) R683Q probably damaging Het
Adam8 T A 7: 139,570,200 (GRCm39) H69L probably damaging Het
Bbs2 G T 8: 94,824,914 (GRCm39) R23S probably benign Het
Bod1l A T 5: 41,974,206 (GRCm39) C2369* probably null Het
Capn11 G T 17: 45,970,278 (GRCm39) probably null Het
Carmil2 A G 8: 106,418,023 (GRCm39) Q679R probably null Het
Cep120 T C 18: 53,854,870 (GRCm39) I422V probably benign Het
Cnot7 A C 8: 40,948,696 (GRCm39) probably null Het
Col1a1 T C 11: 94,828,745 (GRCm39) V29A unknown Het
Dyrk4 A G 6: 126,857,188 (GRCm39) V497A probably benign Het
Ep300 A G 15: 81,532,667 (GRCm39) D1635G unknown Het
Ercc5 T A 1: 44,219,990 (GRCm39) C1087* probably null Het
Fap A T 2: 62,348,865 (GRCm39) M517K probably damaging Het
Focad C A 4: 88,319,256 (GRCm39) D1574E possibly damaging Het
Fsip2 C T 2: 82,820,812 (GRCm39) P5515L probably benign Het
Gpr158 T C 2: 21,373,319 (GRCm39) Y85H probably damaging Het
Hc A G 2: 34,896,117 (GRCm39) V1222A possibly damaging Het
Hipk3 C T 2: 104,268,328 (GRCm39) M546I probably damaging Het
Jup T C 11: 100,270,395 (GRCm39) N371D possibly damaging Het
Ltbp4 A G 7: 27,008,741 (GRCm39) Y1262H probably damaging Het
Lyar A G 5: 38,385,209 (GRCm39) E83G probably damaging Het
Lyg2 C T 1: 37,954,800 (GRCm39) probably null Het
Mtmr11 T A 3: 96,075,905 (GRCm39) probably null Het
Myct1 A T 10: 5,554,426 (GRCm39) R98* probably null Het
Nol11 T C 11: 107,061,971 (GRCm39) T612A probably benign Het
Or2l5 T C 16: 19,333,507 (GRCm39) N293S probably damaging Het
Or4b1d T A 2: 89,968,578 (GRCm39) K302* probably null Het
Or4c113 C T 2: 88,885,126 (GRCm39) V215I probably benign Het
Or4f61 C T 2: 111,922,960 (GRCm39) V29M probably benign Het
Or5m9 A G 2: 85,877,254 (GRCm39) I143V probably benign Het
Parp14 G A 16: 35,661,827 (GRCm39) P1403S probably benign Het
Pcdhb3 T C 18: 37,434,561 (GRCm39) S176P probably benign Het
Pdcd1lg2 C T 19: 29,431,867 (GRCm39) R212W probably benign Het
Plin3 T C 17: 56,593,576 (GRCm39) Y46C probably damaging Het
Rfx7 G A 9: 72,526,820 (GRCm39) E1337K possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ryr1 G T 7: 28,804,035 (GRCm39) N584K probably damaging Het
Scmh1 T C 4: 120,379,817 (GRCm39) V544A probably benign Het
Sdk2 G A 11: 113,834,080 (GRCm39) T34M probably damaging Het
Serpinb9e T A 13: 33,443,790 (GRCm39) L270H probably damaging Het
Shoc2 T A 19: 53,991,480 (GRCm39) N248K probably damaging Het
Sirpd G T 3: 15,385,818 (GRCm39) A28E probably benign Het
Slc25a4 T C 8: 46,662,373 (GRCm39) Y95C probably damaging Het
Slc4a1ap A G 5: 31,691,413 (GRCm39) N403S possibly damaging Het
Spink10 T A 18: 62,790,956 (GRCm39) W7R probably null Het
Ssrp1 A G 2: 84,872,640 (GRCm39) K426R possibly damaging Het
Tbc1d24 G A 17: 24,428,043 (GRCm39) probably benign Het
Tead3 A T 17: 28,553,352 (GRCm39) probably null Het
Timd4 A G 11: 46,734,030 (GRCm39) *344W probably null Het
Tmem181a T A 17: 6,339,312 (GRCm39) W115R probably damaging Het
Tmem245 G A 4: 56,916,733 (GRCm39) T65I probably damaging Het
Vmn1r12 G C 6: 57,136,640 (GRCm39) V202L probably damaging Het
Vmn1r80 A G 7: 11,927,423 (GRCm39) T178A probably benign Het
Vps33b T A 7: 79,933,162 (GRCm39) probably null Het
Zmym6 T A 4: 127,002,266 (GRCm39) probably null Het
Other mutations in Dnttip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4410:Dnttip1 UTSW 2 164,609,739 (GRCm39) unclassified probably benign
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
R7547:Dnttip1 UTSW 2 164,609,799 (GRCm39) missense probably benign 0.10
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'- GCCAACAGTCACCCATGATG -3'
(R):5'- TCTGTCAGTTTGCTAAGCAGTTTC -3'

Sequencing Primer
(F):5'- CCATGATGTTGCCACATTACATACG -3'
(R):5'- TGAACATACGCGACCTGTGTG -3'
Posted On 2017-06-26