Incidental Mutation 'R4851:Dmtn'
ID 373576
Institutional Source Beutler Lab
Gene Symbol Dmtn
Ensembl Gene ENSMUSG00000022099
Gene Name dematin actin binding protein
Synonyms dematin, Epb4.9
MMRRC Submission 042463-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.160) question?
Stock # R4851 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 70839624-70873488 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70842254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 382 (M382T)
Ref Sequence ENSEMBL: ENSMUSP00000022694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022690] [ENSMUST00000022694] [ENSMUST00000022695] [ENSMUST00000110984] [ENSMUST00000227331] [ENSMUST00000228001] [ENSMUST00000228824] [ENSMUST00000228009] [ENSMUST00000228295]
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 damaging
Transcript: ENSMUST00000022694
AA Change: M382T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022694
Gene: ENSMUSG00000022099
AA Change: M382T

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: M357T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022695
Gene: ENSMUSG00000022099
AA Change: M357T

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: M360T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106612
Gene: ENSMUSG00000022099
AA Change: M360T

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 damaging
Transcript: ENSMUST00000228001
AA Change: M335T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000228824
AA Change: M335T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000228009
AA Change: M360T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000228295
AA Change: M357T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Meta Mutation Damage Score 0.5433 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (99/99)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,433,890 (GRCm39) R4148S probably benign Het
Acoxl T A 2: 127,886,311 (GRCm39) L182Q possibly damaging Het
Aldh7a1 T C 18: 56,665,088 (GRCm39) T364A possibly damaging Het
App T C 16: 84,853,322 (GRCm39) D252G unknown Het
Arid1a A G 4: 133,408,672 (GRCm39) I1945T unknown Het
Arsk C T 13: 76,213,398 (GRCm39) probably null Het
Atad2b G A 12: 4,993,251 (GRCm39) G257S probably benign Het
Best1 C A 19: 9,969,062 (GRCm39) R218L probably damaging Het
Cacna1e A T 1: 154,312,300 (GRCm39) probably null Het
Cdh13 C T 8: 119,484,129 (GRCm39) T130I possibly damaging Het
Cela2a T C 4: 141,552,902 (GRCm39) E25G probably benign Het
Cgnl1 T A 9: 71,632,314 (GRCm39) I346F probably damaging Het
Chil6 C T 3: 106,297,244 (GRCm39) G299D possibly damaging Het
Cic G A 7: 24,972,327 (GRCm39) R686H probably damaging Het
Cnpy1 T C 5: 28,450,738 (GRCm39) I23V probably benign Het
Col6a3 T A 1: 90,707,011 (GRCm39) Y2034F unknown Het
Coq10b T C 1: 55,110,903 (GRCm39) Y224H probably benign Het
Cryge G T 1: 65,090,211 (GRCm39) probably benign Het
Cyb5rl T G 4: 106,941,510 (GRCm39) S252A probably benign Het
Cyp2ab1 T A 16: 20,133,814 (GRCm39) R125S probably damaging Het
Dclk1 G A 3: 55,387,811 (GRCm39) G86R probably damaging Het
Dnaaf8 A G 16: 4,794,138 (GRCm39) noncoding transcript Het
Dnah12 T A 14: 26,437,784 (GRCm39) L471* probably null Het
Dock10 A T 1: 80,526,874 (GRCm39) S782T probably benign Het
Egfem1 C A 3: 29,206,032 (GRCm39) H90N possibly damaging Het
Ephb6 T A 6: 41,595,079 (GRCm39) W698R probably benign Het
Exoc4 T A 6: 33,895,343 (GRCm39) C787S probably damaging Het
Exosc8 A T 3: 54,639,523 (GRCm39) probably benign Het
Galc T A 12: 98,193,533 (GRCm39) Q352L probably benign Het
Galns A G 8: 123,327,272 (GRCm39) Y167H probably damaging Het
Glb1l T C 1: 75,185,528 (GRCm39) probably benign Het
Gm6185 A T 1: 161,033,750 (GRCm39) noncoding transcript Het
Gm7694 T C 1: 170,128,794 (GRCm39) N245S probably benign Het
Gmcl1 T G 6: 86,681,538 (GRCm39) K385N possibly damaging Het
Gramd1c A T 16: 43,810,200 (GRCm39) W463R probably damaging Het
Gtpbp8 C G 16: 44,566,433 (GRCm39) A90P probably benign Het
H2bc11 G T 13: 22,227,421 (GRCm39) probably benign Het
Hcar1 T C 5: 124,016,731 (GRCm39) E320G probably benign Het
Hhatl T C 9: 121,618,077 (GRCm39) D226G probably damaging Het
Hoxc5 T A 15: 102,923,801 (GRCm39) I199N probably damaging Het
Iars2 T C 1: 185,059,845 (GRCm39) D121G probably damaging Het
Il5ra T A 6: 106,715,432 (GRCm39) H134L probably benign Het
Isl2 T A 9: 55,452,271 (GRCm39) I281N possibly damaging Het
Kcnk13 T C 12: 99,932,383 (GRCm39) F60L probably damaging Het
Kdelr3 C T 15: 79,409,066 (GRCm39) T85M possibly damaging Het
Kdf1 A T 4: 133,255,676 (GRCm39) H131L probably damaging Het
Mipol1 T A 12: 57,379,087 (GRCm39) L182I probably damaging Het
Morc1 T G 16: 48,381,980 (GRCm39) S513R probably benign Het
Moxd2 A T 6: 40,855,756 (GRCm39) L611H probably damaging Het
Mpped2 T C 2: 106,529,724 (GRCm39) probably benign Het
Mrpl51 T C 6: 125,170,270 (GRCm39) V92A probably benign Het
Mrps26 G A 2: 130,405,681 (GRCm39) probably benign Het
Mrps5 A G 2: 127,432,665 (GRCm39) T29A probably benign Het
Mustn1 A G 14: 30,601,517 (GRCm39) probably benign Het
Ncor2 G A 5: 125,110,431 (GRCm39) P858S possibly damaging Het
Nfasc A G 1: 132,529,759 (GRCm39) F807S probably damaging Het
Nup50 G A 15: 84,823,912 (GRCm39) V422I probably benign Het
Or10x1 T A 1: 174,196,562 (GRCm39) F26L probably benign Het
Or13a25 A T 7: 140,247,226 (GRCm39) M2L probably benign Het
Or1e25 A T 11: 73,493,883 (GRCm39) H159L probably damaging Het
Or2ag13 A T 7: 106,473,221 (GRCm39) V77D probably damaging Het
Or3a1d C A 11: 74,237,769 (GRCm39) V214L probably benign Het
Or4c107 A G 2: 88,788,930 (GRCm39) N40S probably damaging Het
Or8b44 T A 9: 38,410,319 (GRCm39) M118K probably damaging Het
Or8u9 T A 2: 86,002,015 (GRCm39) I49F probably damaging Het
Osbpl8 T A 10: 111,040,661 (GRCm39) M1K probably null Het
Pcdhb22 A C 18: 37,652,087 (GRCm39) D185A possibly damaging Het
Pcdhga8 G T 18: 37,949,457 (GRCm39) R291L probably damaging Het
Saysd1 A T 14: 20,127,672 (GRCm39) L84Q possibly damaging Het
Slc41a1 T C 1: 131,758,508 (GRCm39) I50T probably benign Het
Smg7 G A 1: 152,720,020 (GRCm39) P834S probably benign Het
Speer4a1 C T 5: 26,243,210 (GRCm39) V92M probably damaging Het
Srf T C 17: 46,860,400 (GRCm39) T461A probably benign Het
Ssu72 A G 4: 155,800,053 (GRCm39) D72G possibly damaging Het
Suco T C 1: 161,661,761 (GRCm39) E890G probably damaging Het
Tenm3 A G 8: 48,763,656 (GRCm39) probably null Het
Tm6sf1 A G 7: 81,515,091 (GRCm39) E7G probably null Het
Tm9sf2 A G 14: 122,378,616 (GRCm39) K240R probably benign Het
Tmem52 T A 4: 155,554,825 (GRCm39) Y149* probably null Het
Tpgs2 A T 18: 25,284,305 (GRCm39) Y68N possibly damaging Het
Vmn1r205 T A 13: 22,777,074 (GRCm39) E9D probably benign Het
Vmn2r32 A G 7: 7,482,953 (GRCm39) V7A possibly damaging Het
Vmn2r80 T C 10: 79,030,156 (GRCm39) Y661H possibly damaging Het
Vps39 G A 2: 120,152,312 (GRCm39) probably benign Het
Vwde A T 6: 13,196,047 (GRCm39) V326D possibly damaging Het
Zfp641 T A 15: 98,186,598 (GRCm39) S342C probably damaging Het
Zfp961 T C 8: 72,722,847 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- TGTAGGGAAGGGTCTCACAG -3'
(R):5'- ATGAGATGCTGGTGGTGACC -3'

Sequencing Primer
(F):5'- AAGGGTCTCACAGCCCCAG -3'
(R):5'- AGAACTAAGCTGCCTCCGG -3'
Posted On 2016-03-01