Incidental Mutation 'IGL01987:Dmtf1l'
ID 181941
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dmtf1l
Ensembl Gene ENSMUSG00000058670
Gene Name cyclin D binding myb like transcription factor 1 like
Synonyms 4932411N23Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL01987
Quality Score
Status
Chromosome X
Chromosomal Location 125720085-125723491 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 125722098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 336 (E336K)
Ref Sequence ENSEMBL: ENSMUSP00000079860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081074]
AlphaFold Q8C0S0
Predicted Effect possibly damaging
Transcript: ENSMUST00000081074
AA Change: E336K

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000079860
Gene: ENSMUSG00000058670
AA Change: E336K

DomainStartEndE-ValueType
low complexity region 65 76 N/A INTRINSIC
SANT 129 197 2.49e1 SMART
SANT 200 247 1.12e-7 SMART
SANT 249 308 8.77e-10 SMART
SANT 312 367 1.25e0 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,565,202 (GRCm39) F77L probably benign Het
Abca8a A G 11: 109,964,981 (GRCm39) F439L possibly damaging Het
Abcb5 A T 12: 118,891,093 (GRCm39) V468D probably damaging Het
Adgrb3 A T 1: 25,140,512 (GRCm39) probably null Het
Ajm1 T C 2: 25,467,970 (GRCm39) E647G possibly damaging Het
Ankrd28 T C 14: 31,500,931 (GRCm39) D50G probably damaging Het
Cacna1b A T 2: 24,587,579 (GRCm39) probably null Het
Capn9 A G 8: 125,302,965 (GRCm39) S28G probably benign Het
Cdk5rap2 A G 4: 70,220,319 (GRCm39) probably null Het
E2f5 T C 3: 14,652,363 (GRCm39) probably benign Het
Fam135b A G 15: 71,333,964 (GRCm39) Y1077H probably benign Het
Fap A G 2: 62,359,020 (GRCm39) Y428H probably damaging Het
Fasn A G 11: 120,708,899 (GRCm39) S595P probably damaging Het
Flnb T C 14: 7,922,748 (GRCm38) probably null Het
Fzd3 A T 14: 65,477,347 (GRCm39) V69E probably damaging Het
Gcdh A T 8: 85,620,110 (GRCm39) probably benign Het
Ido1 A G 8: 25,083,159 (GRCm39) Y89H probably benign Het
Itga2 G A 13: 114,984,482 (GRCm39) Q1010* probably null Het
Man1a2 T C 3: 100,551,873 (GRCm39) Y280C probably damaging Het
Mgat4d T C 8: 84,094,731 (GRCm39) I256T probably damaging Het
Mmrn1 A G 6: 60,921,557 (GRCm39) K5E probably benign Het
Ncapd2 A G 6: 125,162,804 (GRCm39) probably benign Het
Or2at4 A T 7: 99,384,478 (GRCm39) I43F probably damaging Het
Or7g18 A T 9: 18,787,003 (GRCm39) I127L probably benign Het
Pcnx3 T C 19: 5,727,507 (GRCm39) D644G probably damaging Het
Pole T C 5: 110,485,098 (GRCm39) V2280A probably benign Het
Ptprf T A 4: 118,134,567 (GRCm39) M24L probably benign Het
Sbno1 T C 5: 124,542,282 (GRCm39) N337S probably damaging Het
Serpinc1 T A 1: 160,820,977 (GRCm39) F141L probably damaging Het
Shroom3 C A 5: 93,090,048 (GRCm39) R933S probably damaging Het
Slc24a2 G A 4: 87,146,033 (GRCm39) P7L probably benign Het
Slc25a32 G A 15: 38,961,002 (GRCm39) T227I probably damaging Het
Slc7a1 A G 5: 148,274,002 (GRCm39) F396L possibly damaging Het
Smok2a G A 17: 13,445,377 (GRCm39) R318H probably benign Het
Sntg2 A G 12: 30,362,569 (GRCm39) V59A probably damaging Het
Sspo A G 6: 48,454,558 (GRCm39) probably null Het
Tnfrsf1a G A 6: 125,333,827 (GRCm39) V27I probably damaging Het
Tnpo3 T C 6: 29,560,200 (GRCm39) T648A probably benign Het
Tpbg A G 9: 85,727,252 (GRCm39) Y407C probably damaging Het
Wbp2nl A T 15: 82,192,762 (GRCm39) M149L probably benign Het
Yif1a T A 19: 5,141,625 (GRCm39) M181K probably benign Het
Zkscan8 A G 13: 21,710,729 (GRCm39) L127S probably damaging Het
Other mutations in Dmtf1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02453:Dmtf1l APN X 125,722,686 (GRCm39) missense possibly damaging 0.50
IGL02453:Dmtf1l APN X 125,722,223 (GRCm39) nonsense probably null
R4735:Dmtf1l UTSW X 125,722,217 (GRCm39) missense probably damaging 1.00
Z1177:Dmtf1l UTSW X 125,722,156 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07