Incidental Mutation 'IGL00858:Dtwd2'
ID 10413
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dtwd2
Ensembl Gene ENSMUSG00000024505
Gene Name DTW domain containing 2
Synonyms 8030470C17Rik, 1190002H09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # IGL00858
Quality Score
Status
Chromosome 18
Chromosomal Location 49829212-49888668 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 49861452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 98 (I98N)
Ref Sequence ENSEMBL: ENSMUSP00000025383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025383] [ENSMUST00000163590]
AlphaFold Q9D0U1
Predicted Effect probably damaging
Transcript: ENSMUST00000025383
AA Change: I98N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025383
Gene: ENSMUSG00000024505
AA Change: I98N

DomainStartEndE-ValueType
low complexity region 10 26 N/A INTRINSIC
low complexity region 32 45 N/A INTRINSIC
DTW 65 260 4.42e-59 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139852
Predicted Effect probably damaging
Transcript: ENSMUST00000163590
AA Change: I98N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128219
Gene: ENSMUSG00000024505
AA Change: I98N

DomainStartEndE-ValueType
low complexity region 10 26 N/A INTRINSIC
low complexity region 32 45 N/A INTRINSIC
DTW 65 164 3.12e-4 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G A 3: 121,967,537 (GRCm39) V988M probably damaging Het
Afap1l1 G A 18: 61,869,925 (GRCm39) T635M probably benign Het
B4galnt1 A G 10: 127,003,633 (GRCm39) T199A probably benign Het
Ccdc183 T A 2: 25,499,783 (GRCm39) M378L probably benign Het
Ccser1 C A 6: 61,787,649 (GRCm39) S134* probably null Het
Cluh A G 11: 74,550,431 (GRCm39) K248E possibly damaging Het
Cpa6 T A 1: 10,554,219 (GRCm39) R129S probably damaging Het
Cyp2c29 T A 19: 39,296,100 (GRCm39) V138D probably damaging Het
Cyp4f14 A G 17: 33,130,692 (GRCm39) probably benign Het
Dock10 T C 1: 80,545,720 (GRCm39) N841S possibly damaging Het
Fut10 G T 8: 31,725,733 (GRCm39) V163F probably damaging Het
Ifi44 T A 3: 151,455,217 (GRCm39) M3L probably benign Het
Mtch1 C T 17: 29,559,430 (GRCm39) D74N probably damaging Het
Nav3 A G 10: 109,578,493 (GRCm39) V1588A probably damaging Het
Pbk T C 14: 66,049,373 (GRCm39) probably benign Het
Ptcd1 A T 5: 145,088,092 (GRCm39) probably benign Het
Rapgef4 A T 2: 72,029,241 (GRCm39) I438F probably damaging Het
Tas2r113 C A 6: 132,870,115 (GRCm39) R48S probably benign Het
Tektl1 T C 10: 78,586,403 (GRCm39) D216G probably damaging Het
Tnn C T 1: 159,915,962 (GRCm39) probably null Het
Tnnt2 G A 1: 135,779,440 (GRCm39) V277I probably damaging Het
Twnk G T 19: 44,996,065 (GRCm39) W166L probably benign Het
Utp20 G A 10: 88,644,987 (GRCm39) L580F possibly damaging Het
Utp20 T A 10: 88,645,000 (GRCm39) E575D probably benign Het
Other mutations in Dtwd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Dtwd2 APN 18 49,856,776 (GRCm39) nonsense probably null
R0575:Dtwd2 UTSW 18 49,831,539 (GRCm39) missense probably damaging 1.00
R0691:Dtwd2 UTSW 18 49,861,424 (GRCm39) splice site probably benign
R2336:Dtwd2 UTSW 18 49,833,320 (GRCm39) splice site probably benign
R4110:Dtwd2 UTSW 18 49,831,373 (GRCm39) utr 3 prime probably benign
R4543:Dtwd2 UTSW 18 49,857,175 (GRCm39) splice site probably null
R4920:Dtwd2 UTSW 18 49,831,507 (GRCm39) missense possibly damaging 0.89
R8246:Dtwd2 UTSW 18 49,831,492 (GRCm39) missense probably benign 0.21
R8722:Dtwd2 UTSW 18 49,833,385 (GRCm39) missense probably damaging 1.00
R9213:Dtwd2 UTSW 18 49,856,799 (GRCm39) missense probably benign 0.00
Posted On 2012-12-06