Incidental Mutation 'IGL01341:Dnttip2'
ID 74865
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnttip2
Ensembl Gene ENSMUSG00000039756
Gene Name deoxynucleotidyltransferase, terminal, interacting protein 2
Synonyms 4930588M11Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # IGL01341
Quality Score
Status
Chromosome 3
Chromosomal Location 122068045-122078920 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122070261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 492 (I492T)
Ref Sequence ENSEMBL: ENSMUSP00000045043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035776]
AlphaFold Q8R2M2
Predicted Effect probably damaging
Transcript: ENSMUST00000035776
AA Change: I492T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045043
Gene: ENSMUSG00000039756
AA Change: I492T

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
Coding Region Coverage
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 8,989,067 (GRCm39) H3450Q probably benign Het
Arcn1 A G 9: 44,668,489 (GRCm39) I249T possibly damaging Het
Arhgef5 G A 6: 43,260,925 (GRCm39) R1450H probably damaging Het
Cdh26 A T 2: 178,099,240 (GRCm39) D113V probably damaging Het
Cnot4 A G 6: 35,047,189 (GRCm39) V141A probably damaging Het
Cox6a1 C A 5: 115,483,898 (GRCm39) probably benign Het
Ctsll3 C T 13: 60,946,813 (GRCm39) D269N probably benign Het
Gimap8 A G 6: 48,635,701 (GRCm39) S489G probably damaging Het
Glra2 T C X: 164,107,562 (GRCm39) D46G probably damaging Het
Gm7094 A G 1: 21,343,107 (GRCm39) noncoding transcript Het
Gmps T C 3: 63,922,861 (GRCm39) I608T probably damaging Het
Gzma A G 13: 113,230,418 (GRCm39) probably benign Het
H2-Q4 T A 17: 35,601,978 (GRCm39) V280E probably damaging Het
Jak1 C T 4: 101,032,290 (GRCm39) G439S probably damaging Het
Kars1 T C 8: 112,721,606 (GRCm39) I556V probably benign Het
Kifc2 T C 15: 76,547,098 (GRCm39) probably null Het
Kit T C 5: 75,767,734 (GRCm39) I39T probably damaging Het
Map3k6 G T 4: 132,975,371 (GRCm39) R702L possibly damaging Het
Marveld3 T A 8: 110,675,049 (GRCm39) T256S possibly damaging Het
Nkd1 G A 8: 89,318,180 (GRCm39) probably benign Het
Or5aq6 T A 2: 86,923,643 (GRCm39) I33L probably benign Het
Or6c212 G A 10: 129,558,747 (GRCm39) T222I possibly damaging Het
Pax2 A G 19: 44,779,127 (GRCm39) S167G probably damaging Het
Pdlim3 T A 8: 46,368,277 (GRCm39) D258E probably benign Het
Ppip5k1 A T 2: 121,173,691 (GRCm39) C393* probably null Het
Pxdn T C 12: 30,052,486 (GRCm39) S888P probably damaging Het
Relb T C 7: 19,350,298 (GRCm39) I218V probably benign Het
Reln T A 5: 22,174,077 (GRCm39) I2009F probably damaging Het
Sec23b T C 2: 144,427,653 (GRCm39) S627P probably benign Het
Slc2a8 T A 2: 32,866,003 (GRCm39) Q39L probably damaging Het
Tmem143 T C 7: 45,565,558 (GRCm39) Y340H probably damaging Het
Ttn A G 2: 76,560,663 (GRCm39) V29246A probably damaging Het
Wdr81 T C 11: 75,336,427 (GRCm39) D1654G probably damaging Het
Zbtb11 T G 16: 55,811,294 (GRCm39) L484R possibly damaging Het
Zcchc8 A G 5: 123,842,632 (GRCm39) V367A 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
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
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
Posted On 2013-10-07