Incidental Mutation 'IGL01802:Dmtn'
ID 155549
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dmtn
Ensembl Gene ENSMUSG00000022099
Gene Name dematin actin binding protein
Synonyms dematin, Epb4.9
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # IGL01802
Quality Score
Status
Chromosome 14
Chromosomal Location 70839624-70873488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 70842259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 358 (F358L)
Ref Sequence ENSEMBL: ENSMUSP00000153828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022690] [ENSMUST00000022694] [ENSMUST00000022695] [ENSMUST00000110984] [ENSMUST00000227331] [ENSMUST00000228001] [ENSMUST00000228009] [ENSMUST00000228295] [ENSMUST00000228824]
AlphaFold Q9WV69
Predicted Effect probably benign
Transcript: ENSMUST00000022690
SMART Domains Protein: ENSMUSP00000022690
Gene: ENSMUSG00000022095

DomainStartEndE-ValueType
Pfam:RAI16-like 79 477 7.7e-112 PFAM
low complexity region 516 528 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000022694
AA Change: F380L

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000022694
Gene: ENSMUSG00000022099
AA Change: F380L

DomainStartEndE-ValueType
Pfam:AbLIM_anchor 8 93 8e-30 PFAM
Pfam:AbLIM_anchor 79 347 1.9e-58 PFAM
VHP 348 383 1.88e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000022695
AA Change: F355L

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000022695
Gene: ENSMUSG00000022099
AA Change: F355L

DomainStartEndE-ValueType
low complexity region 60 72 N/A INTRINSIC
low complexity region 88 99 N/A INTRINSIC
low complexity region 149 160 N/A INTRINSIC
coiled coil region 188 220 N/A INTRINSIC
low complexity region 252 267 N/A INTRINSIC
VHP 345 380 1.88e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110984
AA Change: F358L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106612
Gene: ENSMUSG00000022099
AA Change: F358L

DomainStartEndE-ValueType
low complexity region 11 29 N/A INTRINSIC
low complexity region 85 97 N/A INTRINSIC
low complexity region 113 124 N/A INTRINSIC
low complexity region 174 185 N/A INTRINSIC
coiled coil region 213 245 N/A INTRINSIC
low complexity region 277 292 N/A INTRINSIC
VHP 348 383 1.88e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000227331
Predicted Effect probably benign
Transcript: ENSMUST00000228001
AA Change: F333L

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
Predicted Effect probably damaging
Transcript: ENSMUST00000228009
AA Change: F358L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000228295
AA Change: F355L

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000228824
AA Change: F333L

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an actin binding and bundling protein that plays a structural role in erythrocytes, by stabilizing and attaching the spectrin/actin cytoskeleton to the erythrocyte membrane in a phosphorylation-dependent manner. This protein contains a core domain in the N-terminus, and a headpiece domain in the C-terminus that binds F-actin. When purified from erythrocytes, this protein exists as a trimer composed of two 48 kDa polypeptides and a 52 kDa polypeptide. The different subunits arise from alternative splicing in the 3' coding region, where the headpiece domain is located. Disruption of this gene has been correlated with the autosomal dominant Marie Unna hereditary hypotrichosis disease, while loss of heterozygosity of this gene is thought to play a role in prostate cancer progression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for a targeted mutation display mild anemia and spherocytosis. Mutant erythrocytes are osmotically fragile and show reduced deformability and filterability as well as increased membrane fragmentation and selective loss of spectrin and actin from RBC membrane skeletons and vesicles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,242,438 (GRCm39) M1434L probably benign Het
Acta2 T A 19: 34,220,836 (GRCm39) I291F possibly damaging Het
Arhgap10 A G 8: 78,146,714 (GRCm39) I230T probably damaging Het
Ark2c A T 18: 77,550,610 (GRCm39) L106Q probably damaging Het
Copb1 A C 7: 113,826,011 (GRCm39) S658A probably benign Het
Crtc3 A T 7: 80,254,116 (GRCm39) C244* probably null Het
Cyp4a14 G A 4: 115,352,134 (GRCm39) R93* probably null Het
Dclk2 A G 3: 86,706,334 (GRCm39) F586L probably damaging Het
Enam A T 5: 88,651,533 (GRCm39) H1014L possibly damaging Het
Ercc6 A G 14: 32,284,531 (GRCm39) T765A probably damaging Het
Gtf3c4 T C 2: 28,724,092 (GRCm39) K547E probably damaging Het
Hdc G T 2: 126,445,814 (GRCm39) A230D probably benign Het
Hipk3 A T 2: 104,302,198 (GRCm39) probably benign Het
Kidins220 A G 12: 25,044,999 (GRCm39) I264M probably damaging Het
Lrp1b C T 2: 41,401,494 (GRCm39) V387I probably benign Het
Mmp8 T G 9: 7,567,441 (GRCm39) F434V probably benign Het
Nr3c2 C A 8: 77,635,224 (GRCm39) Y108* probably null Het
Or4k5 T G 14: 50,386,173 (GRCm39) S53R probably benign Het
Or5b119 T C 19: 13,456,729 (GRCm39) M278V probably benign Het
Pnpt1 A T 11: 29,104,306 (GRCm39) D560V probably damaging Het
Rbbp8nl T C 2: 179,921,488 (GRCm39) S299G probably benign Het
Slc9a4 A T 1: 40,646,958 (GRCm39) N484I probably damaging Het
Sncaip C T 18: 53,002,109 (GRCm39) S210F probably damaging Het
Tiam1 G T 16: 89,695,260 (GRCm39) Q66K possibly damaging Het
Ttc39a C A 4: 109,290,281 (GRCm39) Y330* probably null Het
Ush2a T G 1: 188,169,154 (GRCm39) D1098E probably damaging Het
Vmn2r103 A G 17: 20,019,470 (GRCm39) E518G probably benign Het
Other mutations in Dmtn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02836:Dmtn APN 14 70,853,518 (GRCm39) missense probably damaging 1.00
R1248:Dmtn UTSW 14 70,850,098 (GRCm39) splice site probably benign
R2428:Dmtn UTSW 14 70,850,843 (GRCm39) missense probably damaging 1.00
R3438:Dmtn UTSW 14 70,850,156 (GRCm39) missense probably damaging 0.98
R4851:Dmtn UTSW 14 70,842,254 (GRCm39) missense probably damaging 1.00
R4917:Dmtn UTSW 14 70,843,159 (GRCm39) missense probably damaging 0.98
R4924:Dmtn UTSW 14 70,855,399 (GRCm39) missense probably benign 0.25
R5633:Dmtn UTSW 14 70,842,419 (GRCm39) missense probably benign 0.18
R6170:Dmtn UTSW 14 70,854,795 (GRCm39) missense probably damaging 1.00
R6214:Dmtn UTSW 14 70,850,776 (GRCm39) missense probably benign 0.05
R6215:Dmtn UTSW 14 70,850,776 (GRCm39) missense probably benign 0.05
R6639:Dmtn UTSW 14 70,854,870 (GRCm39) missense probably damaging 1.00
R6860:Dmtn UTSW 14 70,852,322 (GRCm39) missense possibly damaging 0.94
R7139:Dmtn UTSW 14 70,854,867 (GRCm39) missense probably benign 0.12
R7242:Dmtn UTSW 14 70,855,460 (GRCm39) missense probably damaging 1.00
R7380:Dmtn UTSW 14 70,854,768 (GRCm39) missense probably damaging 0.99
R7572:Dmtn UTSW 14 70,842,777 (GRCm39) missense possibly damaging 0.93
R8806:Dmtn UTSW 14 70,852,388 (GRCm39) missense probably benign 0.26
R8888:Dmtn UTSW 14 70,850,144 (GRCm39) missense probably benign 0.18
R8895:Dmtn UTSW 14 70,850,144 (GRCm39) missense probably benign 0.18
R9027:Dmtn UTSW 14 70,853,555 (GRCm39) missense probably damaging 0.99
R9032:Dmtn UTSW 14 70,853,534 (GRCm39) missense probably damaging 0.99
R9085:Dmtn UTSW 14 70,853,534 (GRCm39) missense probably damaging 0.99
R9694:Dmtn UTSW 14 70,852,732 (GRCm39) critical splice acceptor site probably null
Posted On 2014-02-04