Incidental Mutation 'R7242:Dmtn'
ID 563309
Institutional Source Beutler Lab
Gene Symbol Dmtn
Ensembl Gene ENSMUSG00000022099
Gene Name dematin actin binding protein
Synonyms dematin, Epb4.9
MMRRC Submission 045349-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.160) question?
Stock # R7242 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 70839624-70873488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70855460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 10 (T10A)
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: T10A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022694
Gene: ENSMUSG00000022099
AA Change: T10A

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
SMART Domains Protein: ENSMUSP00000022695
Gene: ENSMUSG00000022099

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: T10A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106612
Gene: ENSMUSG00000022099
AA Change: T10A

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 damaging
Transcript: ENSMUST00000226543
AA Change: T10A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000227331
Predicted Effect probably benign
Transcript: ENSMUST00000228001
Predicted Effect probably damaging
Transcript: ENSMUST00000228009
AA Change: T10A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000228295
Predicted Effect probably benign
Transcript: ENSMUST00000228824
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (73/73)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,121,677 (GRCm39) I74N probably damaging Het
Abca6 A T 11: 110,132,479 (GRCm39) V272D possibly damaging Het
Acot11 A T 4: 106,619,690 (GRCm39) S163R probably benign Het
Adcy5 T C 16: 34,977,205 (GRCm39) L246P probably damaging Het
Adgra1 A T 7: 139,427,573 (GRCm39) probably null Het
Adgra2 A G 8: 27,612,055 (GRCm39) T1335A probably damaging Het
Aoc1l2 A T 6: 48,908,062 (GRCm39) Y354F probably damaging Het
Armt1 T C 10: 4,403,475 (GRCm39) S187P probably damaging Het
Azin1 T C 15: 38,501,749 (GRCm39) M1V probably null Het
B430305J03Rik C T 3: 61,271,256 (GRCm39) C163Y unknown Het
Cables1 T C 18: 11,973,064 (GRCm39) S68P possibly damaging Het
Cacna1d A G 14: 29,900,663 (GRCm39) F341L probably benign Het
Ccdc90b T A 7: 92,221,776 (GRCm39) H118Q probably damaging Het
Ccn5 T C 2: 163,670,772 (GRCm39) F93S probably benign Het
Celf1 T A 2: 90,833,602 (GRCm39) C119* probably null Het
Cfap57 C T 4: 118,450,293 (GRCm39) V610M possibly damaging Het
Chrm4 T A 2: 91,757,595 (GRCm39) M1K probably null Het
Chrnd C T 1: 87,125,201 (GRCm39) T418I probably damaging Het
Coch G T 12: 51,640,344 (GRCm39) probably benign Het
Cop1 A G 1: 159,112,118 (GRCm39) T345A probably benign Het
Cops6 A G 5: 138,161,842 (GRCm39) T96A probably benign Het
Corin T C 5: 72,462,398 (GRCm39) I945V probably benign Het
Cyp2c67 G T 19: 39,605,783 (GRCm39) T371N probably benign Het
Dap T A 15: 31,273,454 (GRCm39) *103R probably null Het
Defb35 T A 8: 22,430,773 (GRCm39) V49E unknown Het
Dmtf1 T A 5: 9,199,016 (GRCm39) D39V possibly damaging Het
Dnajc1 C T 2: 18,298,783 (GRCm39) E264K probably benign Het
Dtx3l A T 16: 35,753,771 (GRCm39) N278K possibly damaging Het
Fam161a T A 11: 22,970,037 (GRCm39) S72T possibly damaging Het
Fnbp4 T A 2: 90,576,140 (GRCm39) S114T unknown Het
Focad T G 4: 88,228,143 (GRCm39) I784S unknown Het
Fzd8 A T 18: 9,214,171 (GRCm39) T418S probably damaging Het
Gclc A G 9: 77,692,653 (GRCm39) Y264C probably benign Het
Ggn G A 7: 28,872,459 (GRCm39) C649Y possibly damaging Het
Gys1 A G 7: 45,089,092 (GRCm39) probably null Het
Hsd3b1 T C 3: 98,760,526 (GRCm39) Y155C probably damaging Het
Htatip2 A G 7: 49,422,354 (GRCm39) K191E probably benign Het
Ik A T 18: 36,881,275 (GRCm39) S79C probably null Het
Kin G A 2: 10,096,604 (GRCm39) R151Q probably benign Het
Kpna2rt G A 17: 90,217,563 (GRCm39) T61I probably benign Het
Mast4 A G 13: 102,874,986 (GRCm39) S1461P probably damaging Het
Melk T A 4: 44,360,885 (GRCm39) V555E probably damaging Het
Met G A 6: 17,491,316 (GRCm39) C26Y probably damaging Het
Mfsd6 A T 1: 52,748,633 (GRCm39) F77L probably damaging Het
Mib1 T A 18: 10,741,011 (GRCm39) D86E probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Or12e8 G A 2: 87,188,426 (GRCm39) V213I probably benign Het
Or56b1b T G 7: 108,164,919 (GRCm39) S28R probably benign Het
Or7a36 A T 10: 78,820,331 (GRCm39) K236* probably null Het
Or8g21 A G 9: 38,906,437 (GRCm39) I98T probably benign Het
Patj A T 4: 98,480,170 (GRCm39) I1296L probably benign Het
Pcdh1 C T 18: 38,336,270 (GRCm39) V122M probably benign Het
Pcdhac2 A T 18: 37,277,946 (GRCm39) I309F possibly damaging Het
Phf8-ps A G 17: 33,286,101 (GRCm39) Y234H probably damaging Het
Phtf1 A G 3: 103,906,012 (GRCm39) S565G probably damaging Het
Plekha2 A C 8: 25,578,411 (GRCm39) F30V probably damaging Het
Ptbp1 A G 10: 79,692,222 (GRCm39) M20V unknown Het
Pth2r A G 1: 65,427,779 (GRCm39) D484G probably benign Het
Rapgef2 G A 3: 78,995,210 (GRCm39) Q665* probably null Het
Scamp1 G A 13: 94,369,648 (GRCm39) T59I probably benign Het
Sema4a T A 3: 88,357,416 (GRCm39) D230V probably damaging Het
Snw1 C T 12: 87,515,415 (GRCm39) G45R possibly damaging Het
Sox30 T A 11: 45,875,347 (GRCm39) probably null Het
Sspo T A 6: 48,450,886 (GRCm39) I2665K probably benign Het
Stx5a T A 19: 8,732,641 (GRCm39) W437R unknown Het
Tln1 A G 4: 43,542,602 (GRCm39) V1402A probably benign Het
Tpm1 A G 9: 66,935,383 (GRCm39) L244P probably benign Het
Try5 T A 6: 41,290,388 (GRCm39) E32V probably benign Het
Ttn T C 2: 76,552,073 (GRCm39) N31188S probably benign Het
Tulp1 T C 17: 28,582,379 (GRCm39) probably null Het
Usp13 T G 3: 32,919,892 (GRCm39) probably null Het
Vax2 A G 6: 83,688,298 (GRCm39) E7G possibly damaging Het
Vmn2r45 A T 7: 8,488,612 (GRCm39) Y139* probably null Het
Zfp423 T C 8: 88,631,155 (GRCm39) D21G probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CAAGAGTTCACAGGACCTCC -3'
(R):5'- AACGTCTGCAGAAGGTGAGC -3'

Sequencing Primer
(F):5'- GTTCACAGGACCTCCCTCCATG -3'
(R):5'- CAGAAGGTGAGCGGCTTGC -3'
Posted On 2019-06-26