Incidental Mutation 'R9027:Dmtn'
ID 686824
Institutional Source Beutler Lab
Gene Symbol Dmtn
Ensembl Gene ENSMUSG00000022099
Gene Name dematin actin binding protein
Synonyms dematin, Epb4.9
MMRRC Submission 068856-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.160) question?
Stock # R9027 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 70839624-70873488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70853555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 85 (S85P)
Ref Sequence ENSEMBL: ENSMUSP00000022694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022694] [ENSMUST00000022695] [ENSMUST00000110984] [ENSMUST00000226543] [ENSMUST00000227331] [ENSMUST00000228001] [ENSMUST00000228009] [ENSMUST00000228295] [ENSMUST00000228824]
AlphaFold Q9WV69
Predicted Effect probably damaging
Transcript: ENSMUST00000022694
AA Change: S85P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022694
Gene: ENSMUSG00000022099
AA Change: S85P

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 damaging
Transcript: ENSMUST00000022695
AA Change: S60P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022695
Gene: ENSMUSG00000022099
AA Change: S60P

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: S85P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106612
Gene: ENSMUSG00000022099
AA Change: S85P

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: ENSMUST00000226543
Predicted Effect unknown
Transcript: ENSMUST00000227331
AA Change: S38P
Predicted Effect probably damaging
Transcript: ENSMUST00000228001
AA Change: S60P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000228009
AA Change: S85P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000228295
AA Change: S60P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000228824
AA Change: S60P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Meta Mutation Damage Score 0.1118 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (59/60)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b C A 5: 121,640,788 (GRCm39) E86* probably null Het
Ahnak T G 19: 8,984,617 (GRCm39) I1967S possibly damaging Het
Alox12e A G 11: 70,212,600 (GRCm39) V83A possibly damaging Het
Arhgap20 A T 9: 51,754,977 (GRCm39) R439S probably damaging Het
Arl1 A G 10: 88,569,458 (GRCm39) I20V probably damaging Het
Atad2 T C 15: 57,995,628 (GRCm39) D93G probably benign Het
Btbd7 T G 12: 102,804,838 (GRCm39) K67N probably damaging Het
C130050O18Rik A G 5: 139,400,301 (GRCm39) N118S probably benign Het
Ccz1 A C 5: 143,946,120 (GRCm39) probably benign Het
Cdk19 A G 10: 40,355,728 (GRCm39) S479G unknown Het
Chrd A G 16: 20,555,737 (GRCm39) T503A probably damaging Het
Clca4b G A 3: 144,617,827 (GRCm39) R759* probably null Het
Cpa5 G T 6: 30,612,604 (GRCm39) M1I probably null Het
Cr2 A T 1: 194,834,029 (GRCm39) I920N probably benign Het
Crmp1 C A 5: 37,437,947 (GRCm39) Y430* probably null Het
Dars1 A T 1: 128,296,163 (GRCm39) V390D possibly damaging Het
Ermardl1 A G 17: 15,242,364 (GRCm39) E416G unknown Het
Fancm C A 12: 65,122,605 (GRCm39) D42E probably damaging Het
Gabrg3 T A 7: 56,423,122 (GRCm39) Y192F possibly damaging Het
Gpr3 A T 4: 132,938,209 (GRCm39) Y154* probably null Het
Huwe1 G A X: 150,716,084 (GRCm39) R4331Q unknown Het
Ints5 C A 19: 8,873,322 (GRCm39) P427Q possibly damaging Het
Jhy A T 9: 40,828,823 (GRCm39) V361D probably benign Het
Klhl33 G A 14: 51,130,322 (GRCm39) Q131* probably null Het
Lama2 A T 10: 27,080,881 (GRCm39) C981S probably damaging Het
Mks1 C A 11: 87,748,041 (GRCm39) L225I probably damaging Het
Ms4a20 A T 19: 11,083,055 (GRCm39) Y122N probably damaging Het
Nfasc T A 1: 132,539,343 (GRCm39) S402C probably damaging Het
Or2a57 T C 6: 43,213,358 (GRCm39) I272T possibly damaging Het
Or4k50-ps1 A T 2: 111,522,517 (GRCm39) Y218F unknown Het
Or51g2 T C 7: 102,622,560 (GRCm39) D213G probably damaging Het
Pbx4 T A 8: 70,316,999 (GRCm39) D85E possibly damaging Het
Plcd1 T C 9: 118,913,709 (GRCm39) T50A probably damaging Het
Plk5 C G 10: 80,193,830 (GRCm39) R40G probably damaging Het
Psen2 C A 1: 180,056,972 (GRCm39) E351* probably null Het
Rragd G A 4: 32,996,083 (GRCm39) V143I probably damaging Het
Rsph14 A T 10: 74,795,423 (GRCm39) M254K probably damaging Het
Selenoi C T 5: 30,437,607 (GRCm39) probably benign Het
Six6 T C 12: 72,986,935 (GRCm39) S36P Het
Slc12a8 T C 16: 33,445,215 (GRCm39) S370P probably benign Het
Slc25a46 A G 18: 31,716,432 (GRCm39) Y357H probably benign Het
Socs2 A T 10: 95,248,948 (GRCm39) V55D probably damaging Het
Socs6 T C 18: 88,888,852 (GRCm39) E21G probably benign Het
Spata31e4 C T 13: 50,857,007 (GRCm39) Q882* probably null Het
Speg A T 1: 75,365,076 (GRCm39) T486S possibly damaging Het
Spryd3 A G 15: 102,027,843 (GRCm39) Y235H probably damaging Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Stxbp5l T C 16: 37,165,473 (GRCm39) K82E probably damaging Het
Sugt1 A G 14: 79,825,155 (GRCm39) probably benign Het
Synm T C 7: 67,384,440 (GRCm39) Y1074C probably damaging Het
Sytl2 A G 7: 90,028,748 (GRCm39) T476A probably benign Het
Tbc1d1 T C 5: 64,414,349 (GRCm39) S237P probably benign Het
Tbc1d5 C A 17: 51,063,692 (GRCm39) M629I probably damaging Het
Tlr11 G A 14: 50,598,749 (GRCm39) G245D probably damaging Het
Tspan4 T C 7: 141,069,577 (GRCm39) V59A probably benign Het
Tulp4 T A 17: 6,283,472 (GRCm39) V1167E possibly damaging Het
Usp42 G A 5: 143,708,906 (GRCm39) T204M probably damaging Het
Vapb A G 2: 173,617,948 (GRCm39) K147R possibly damaging Het
Vmn1r228 T C 17: 20,997,422 (GRCm39) D32G probably benign Het
Vmn2r33 A G 7: 7,554,168 (GRCm39) F795S probably damaging Het
Vmn2r34 A T 7: 7,675,527 (GRCm39) N620K probably damaging Het
Vwf G T 6: 125,643,626 (GRCm39) C2389F Het
Wdr81 T C 11: 75,332,908 (GRCm39) E652G Het
Wdr81 A T 11: 75,343,207 (GRCm39) S687T probably benign Het
Zcrb1 A G 15: 93,285,456 (GRCm39) probably null Het
Other mutations in Dmtn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01802:Dmtn APN 14 70,842,259 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGGCAGACAGATGAGTTGGC -3'
(R):5'- GAGGCACACTGTTCCCATATCC -3'

Sequencing Primer
(F):5'- TGAGTTGGCCAGGGACCAAC -3'
(R):5'- GTTCCCATATCCAAGCTTCACATG -3'
Posted On 2021-11-19