Incidental Mutation 'R6519:Dnttip2'
ID 520957
Institutional Source Beutler Lab
Gene Symbol Dnttip2
Ensembl Gene ENSMUSG00000039756
Gene Name deoxynucleotidyltransferase, terminal, interacting protein 2
Synonyms 4930588M11Rik
MMRRC Submission 044646-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R6519 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 122068045-122078920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122069120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 112 (S112P)
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 probably benign
Transcript: ENSMUST00000035776
AA Change: S112P

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000045043
Gene: ENSMUSG00000039756
AA Change: S112P

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 0.1542 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 91.7%
Validation Efficiency 97% (58/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T C 9: 99,495,723 (GRCm39) I53T probably damaging Het
Adgrv1 C T 13: 81,715,462 (GRCm39) D909N probably benign Het
Ahdc1 T C 4: 132,792,079 (GRCm39) Y1107H possibly damaging Het
Aldob A T 4: 49,543,835 (GRCm39) V49E probably damaging Het
Apol6 T A 15: 76,935,476 (GRCm39) Y248* probably null Het
Apol7b T A 15: 77,307,548 (GRCm39) T316S probably benign Het
Atp13a2 G C 4: 140,728,165 (GRCm39) R503P possibly damaging Het
Brca2 A C 5: 150,464,444 (GRCm39) T1403P probably damaging Het
Cblc T C 7: 19,526,788 (GRCm39) Y148C probably damaging Het
Cct7 C A 6: 85,439,132 (GRCm39) Q149K probably benign Het
Cd53 T A 3: 106,669,461 (GRCm39) H179L probably benign Het
Cyp2b19 A G 7: 26,458,536 (GRCm39) T84A probably benign Het
Cyp3a41a A G 5: 145,652,308 (GRCm39) C64R probably damaging Het
Dclre1c T C 2: 3,430,366 (GRCm39) Y75H probably damaging Het
Dhx35 A T 2: 158,673,630 (GRCm39) I354F probably damaging Het
Diaph3 T C 14: 87,203,771 (GRCm39) N629S probably damaging Het
Dnase1 A T 16: 3,856,453 (GRCm39) S132C probably damaging Het
Eif4g3 C A 4: 137,721,319 (GRCm39) P48T probably benign Het
Fat4 A T 3: 39,057,020 (GRCm39) T4239S probably benign Het
Fbn2 A G 18: 58,196,647 (GRCm39) V1419A possibly damaging Het
Ghitm A C 14: 36,847,204 (GRCm39) M290R probably damaging Het
Glb1l T C 1: 75,177,700 (GRCm39) D406G probably benign Het
Glipr1l1 C A 10: 111,898,153 (GRCm39) A86D probably benign Het
Golm2 T C 2: 121,737,218 (GRCm39) V141A probably benign Het
Grm7 C T 6: 111,184,713 (GRCm39) A348V probably benign Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hdac2 T A 10: 36,865,252 (GRCm39) N155K probably damaging Het
Hus1b A G 13: 31,130,930 (GRCm39) I243T probably benign Het
Kcnab2 T C 4: 152,496,450 (GRCm39) T65A probably damaging Het
Lasp1 T A 11: 97,706,383 (GRCm39) probably null Het
Lrch3 G A 16: 32,815,367 (GRCm39) probably benign Het
Ltb4r2 C T 14: 56,000,438 (GRCm39) T353M probably benign Het
Macf1 A G 4: 123,366,118 (GRCm39) M1316T probably benign Het
Msr1 G A 8: 40,077,262 (GRCm39) T116I probably benign Het
Nlrp5 A G 7: 23,117,343 (GRCm39) I356V probably benign Het
Npy C T 6: 49,800,669 (GRCm39) S31F possibly damaging Het
Nsd3 C T 8: 26,152,955 (GRCm39) P432S probably damaging Het
Nup160 A C 2: 90,548,561 (GRCm39) R1037S probably damaging Het
Or12j4 T A 7: 140,046,458 (GRCm39) S115T probably benign Het
Or4b1d A T 2: 89,969,156 (GRCm39) I109N possibly damaging Het
Or8s5 C T 15: 98,237,929 (GRCm39) G314R probably benign Het
Pcx A G 19: 4,652,239 (GRCm39) E108G possibly damaging Het
Pecam1 A T 11: 106,590,468 (GRCm39) M102K probably benign Het
Pgd G T 4: 149,235,343 (GRCm39) Y433* probably null Het
Pkd1l3 A G 8: 110,355,404 (GRCm39) E744G probably benign Het
Rb1 A G 14: 73,535,503 (GRCm39) I118T probably benign Het
Rdh11 T A 12: 79,229,589 (GRCm39) H228L probably damaging Het
Rnf44 C T 13: 54,829,599 (GRCm39) R340Q probably damaging Het
Rtraf A G 14: 19,869,998 (GRCm39) V88A possibly damaging Het
Sigmar1 T C 4: 41,739,380 (GRCm39) T185A possibly damaging Het
Thsd1 A G 8: 22,749,081 (GRCm39) R590G probably damaging Het
Trappc14 A G 5: 138,260,110 (GRCm39) S344P probably damaging Het
Trbv19 T C 6: 41,155,573 (GRCm39) probably benign Het
Txnrd3 T C 6: 89,631,405 (GRCm39) probably null Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Xpnpep1 T C 19: 53,000,275 (GRCm39) N192D possibly damaging Het
Zfp955b T A 17: 33,521,051 (GRCm39) S173R possibly damaging Het
Zranb1 T A 7: 132,551,857 (GRCm39) C195* probably null 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
R3913:Dnttip2 UTSW 3 122,069,040 (GRCm39) missense possibly damaging 0.68
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
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'- GCACAAAGGAATCGGGATCC -3'
(R):5'- GTTCCCGACTGTGATTCTTGGC -3'

Sequencing Primer
(F):5'- TGAATCGCAGCCTGCTGAG -3'
(R):5'- GGCTTGAATCTCTTTGAGAATTAGCC -3'
Posted On 2018-06-06