Incidental Mutation 'R4367:Dnttip2'
ID 325791
Institutional Source Beutler Lab
Gene Symbol Dnttip2
Ensembl Gene ENSMUSG00000039756
Gene Name deoxynucleotidyltransferase, terminal, interacting protein 2
Synonyms 4930588M11Rik
MMRRC Submission 041673-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R4367 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 122068045-122078920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122070146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 454 (S454P)
Ref Sequence ENSEMBL: ENSMUSP00000045043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035776]
AlphaFold Q8R2M2
Predicted Effect probably damaging
Transcript: ENSMUST00000035776
AA Change: S454P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045043
Gene: ENSMUSG00000039756
AA Change: S454P

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: ENSMUST00000196338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197215
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199627
Meta Mutation Damage Score 0.1138 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 98% (54/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb2 T C 18: 62,312,127 (GRCm39) I233V probably damaging Het
Alox5 T A 6: 116,437,924 (GRCm39) Y21F possibly damaging Het
Ank2 T C 3: 126,739,798 (GRCm39) T1942A probably benign Het
Aoc1l1 T C 6: 48,953,064 (GRCm39) S330P probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bckdk C T 7: 127,505,591 (GRCm39) A238V probably benign Het
Casp1 A G 9: 5,299,333 (GRCm39) T21A probably benign Het
Ccdc39 T C 3: 33,880,671 (GRCm39) H432R probably benign Het
Cttnbp2 A C 6: 18,405,248 (GRCm39) C574G probably damaging Het
Cyp1a1 T C 9: 57,607,432 (GRCm39) V20A probably benign Het
Dhx38 C T 8: 110,279,763 (GRCm39) V976I probably damaging Het
Dnah6 A G 6: 73,126,467 (GRCm39) S1287P possibly damaging Het
Drp2 A T X: 133,335,884 (GRCm39) probably benign Het
Flcn C T 11: 59,694,610 (GRCm39) V121I possibly damaging Het
Fmo1 G C 1: 162,661,217 (GRCm39) Y355* probably null Het
Git2 T A 5: 114,902,727 (GRCm39) H138L probably damaging Het
Gpr162 G A 6: 124,838,658 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnt1 T C 2: 25,797,638 (GRCm39) I881T probably damaging Het
Lama3 T A 18: 12,646,747 (GRCm39) C1754S probably damaging Het
Mpp3 A T 11: 101,914,246 (GRCm39) D116E probably benign Het
Myh11 T C 16: 14,036,747 (GRCm39) D985G probably damaging Het
Necap1 T C 6: 122,864,337 (GRCm39) V273A probably damaging Het
Nlrc5 T C 8: 95,203,192 (GRCm39) S431P probably damaging Het
Nutm2 A T 13: 50,623,920 (GRCm39) T206S probably benign Het
Or2d3 GAACAACAACAA GAACAACAA 7: 106,490,567 (GRCm39) probably benign Het
Or5p79 C T 7: 108,221,096 (GRCm39) L26F probably benign Het
Or8g19 G A 9: 39,055,725 (GRCm39) A110T probably damaging Het
Phactr2 A G 10: 13,129,564 (GRCm39) S235P probably damaging Het
Podnl1 G A 8: 84,853,897 (GRCm39) R89H probably benign Het
Prpf38b T C 3: 108,818,487 (GRCm39) Y91C probably damaging Het
Radil C T 5: 142,480,560 (GRCm39) A632T probably benign Het
Rpap2 G A 5: 107,749,661 (GRCm39) V62I possibly damaging Het
Sdf2 C T 11: 78,141,863 (GRCm39) T66I probably damaging Het
Specc1 T C 11: 62,009,356 (GRCm39) S371P probably damaging Het
Suco T C 1: 161,674,799 (GRCm39) E416G probably damaging Het
Sys1 T C 2: 164,303,315 (GRCm39) W10R probably damaging Het
Tars3 C T 7: 65,332,567 (GRCm39) T556M probably damaging Het
Tcirg1 C T 19: 3,949,069 (GRCm39) D407N probably damaging Het
Tefm G T 11: 80,031,156 (GRCm39) L27I probably benign Het
Tenm2 A G 11: 35,918,225 (GRCm39) I1845T probably benign Het
Tfam A T 10: 71,069,233 (GRCm39) I119N probably damaging Het
Tle1 ACAGGTTTCTTCAGGTTTCTT ACAGGTTTCTT 4: 72,036,400 (GRCm39) probably benign Het
Trpm6 T C 19: 18,804,889 (GRCm39) I947T probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Usp54 T C 14: 20,611,202 (GRCm39) T1205A probably benign Het
Vmn2r25 T C 6: 123,805,496 (GRCm39) R454G probably damaging Het
Xylb T C 9: 119,217,781 (GRCm39) V477A probably benign 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
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
R6519:Dnttip2 UTSW 3 122,069,120 (GRCm39) missense probably benign 0.05
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'- AAGAGTGACTTGGCACAGCTC -3'
(R):5'- CCTCAATAGCAACTTCACTCGG -3'

Sequencing Primer
(F):5'- ACTTGGCACAGCTCGGTGG -3'
(R):5'- ATAGCAACTTCACTCGGAGCCTTG -3'
Posted On 2015-07-06