Incidental Mutation 'R6688:Dnttip1'
ID 527849
Institutional Source Beutler Lab
Gene Symbol Dnttip1
Ensembl Gene ENSMUSG00000017299
Gene Name deoxynucleotidyltransferase, terminal, interacting protein 1
Synonyms 6430706C13Rik
MMRRC Submission 044806-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6688 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 164587935-164610140 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 164607081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 241 (Y241H)
Ref Sequence ENSEMBL: ENSMUSP00000017443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001439] [ENSMUST00000017443] [ENSMUST00000088248] [ENSMUST00000109327]
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 damaging
Transcript: ENSMUST00000017443
AA Change: Y241H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017443
Gene: ENSMUSG00000017299
AA Change: Y241H

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 probably benign
Transcript: ENSMUST00000109327
SMART Domains Protein: ENSMUSP00000104950
Gene: ENSMUSG00000017299

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: ENSMUST00000141843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157601
Meta Mutation Damage Score 0.8120 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (33/33)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn1 A T 13: 45,721,147 (GRCm39) H249Q probably damaging Het
Cd22 A C 7: 30,572,389 (GRCm39) S362A possibly damaging Het
Cep120 G A 18: 53,857,608 (GRCm39) P286S probably benign Het
Ces1g G A 8: 94,033,600 (GRCm39) P441S possibly damaging Het
Ces2h A G 8: 105,744,472 (GRCm39) I316V probably benign Het
Cntnap5c T A 17: 58,600,899 (GRCm39) D747E possibly damaging Het
Cwf19l2 T C 9: 3,450,015 (GRCm39) V572A probably benign Het
Cyb5rl C T 4: 106,931,102 (GRCm39) A128V probably damaging Het
Gm2381 G A 7: 42,470,010 (GRCm39) A38V probably benign Het
Golga4 A G 9: 118,343,278 (GRCm39) T11A possibly damaging Het
Ip6k2 C A 9: 108,683,210 (GRCm39) T440K probably benign Het
Kif5c A G 2: 49,578,749 (GRCm39) N126D probably benign Het
Mdn1 T A 4: 32,774,041 (GRCm39) F5551I possibly damaging Het
Myh11 A G 16: 14,023,417 (GRCm39) L1587P probably damaging Het
Nherf4 C T 9: 44,159,527 (GRCm39) probably null Het
Nop53 A G 7: 15,679,779 (GRCm39) V67A possibly damaging Het
Or1o1 G A 17: 37,716,796 (GRCm39) R119H probably benign Het
Paxip1 T C 5: 27,949,135 (GRCm39) T1045A probably benign Het
Plg A T 17: 12,610,732 (GRCm39) H215L probably damaging Het
Psmb5 C A 14: 54,854,130 (GRCm39) R116L probably damaging Het
Rapgef2 T A 3: 78,976,435 (GRCm39) Q1307L probably benign Het
Serpini2 T C 3: 75,166,870 (GRCm39) E129G possibly damaging Het
Stx1b C T 7: 127,407,068 (GRCm39) R209Q probably damaging Het
Tcf20 A G 15: 82,738,736 (GRCm39) I905T possibly damaging Het
Tmem252 G A 19: 24,651,463 (GRCm39) A11T probably benign Het
Tpst2 A G 5: 112,455,623 (GRCm39) N54S probably benign Het
Usp31 T C 7: 121,277,553 (GRCm39) S269G probably benign Het
Wasf1 T C 10: 40,802,616 (GRCm39) probably null Het
Zfp429 A T 13: 67,544,249 (GRCm39) V58D probably damaging Het
Zfp958 A G 8: 4,678,940 (GRCm39) T322A 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
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'- TGAACTCTGGCAACTAGGTTG -3'
(R):5'- TTCAGCATGAAGGAGCAGGTC -3'

Sequencing Primer
(F):5'- AACTAGGTTGCCACCCCAGG -3'
(R):5'- AAGGAGCAGGTCTCAGGCC -3'
Posted On 2018-07-23