Incidental Mutation 'R6170:Dmtn'
ID 490406
Institutional Source Beutler Lab
Gene Symbol Dmtn
Ensembl Gene ENSMUSG00000022099
Gene Name dematin actin binding protein
Synonyms dematin, Epb4.9
MMRRC Submission 044431-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R6170 (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 70854795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 60 (D60G)
Ref Sequence ENSEMBL: ENSMUSP00000153828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022694] [ENSMUST00000022695] [ENSMUST00000110984] [ENSMUST00000226543] [ENSMUST00000227331] [ENSMUST00000228001] [ENSMUST00000228824] [ENSMUST00000228009] [ENSMUST00000228295]
AlphaFold Q9WV69
Predicted Effect probably damaging
Transcript: ENSMUST00000022694
AA Change: D60G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022694
Gene: ENSMUSG00000022099
AA Change: D60G

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 possibly damaging
Transcript: ENSMUST00000022695
AA Change: D35G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022695
Gene: ENSMUSG00000022099
AA Change: D35G

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: D60G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106612
Gene: ENSMUSG00000022099
AA Change: D60G

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 probably damaging
Transcript: ENSMUST00000227331
AA Change: D13G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227453
Predicted Effect possibly damaging
Transcript: ENSMUST00000228001
AA Change: D35G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228824
AA Change: D35G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000228009
AA Change: D60G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect possibly damaging
Transcript: ENSMUST00000228295
AA Change: D35G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.9592 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 96% (68/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik T A 6: 72,325,555 (GRCm39) S90R probably benign Het
4930523C07Rik C A 1: 159,902,743 (GRCm39) N4K possibly damaging Het
Adgrl2 A G 3: 148,528,645 (GRCm39) S1167P probably damaging Het
Akr1e1 T C 13: 4,652,723 (GRCm39) D94G possibly damaging Het
Anln T C 9: 22,279,793 (GRCm39) N466D probably benign Het
Atp9b T A 18: 80,920,562 (GRCm39) I231L probably benign Het
Bpifb3 T A 2: 153,761,557 (GRCm39) M2K unknown Het
Btbd3 T C 2: 138,120,862 (GRCm39) L12P probably damaging Het
Btnl6 T A 17: 34,734,480 (GRCm39) Y94F probably damaging Het
Cab39 T A 1: 85,746,176 (GRCm39) L19* probably null Het
Cacna2d2 A G 9: 107,404,533 (GRCm39) D1114G probably damaging Het
Cdcp3 A T 7: 130,776,216 (GRCm39) probably null Het
Cdh11 A G 8: 103,361,442 (GRCm39) V632A probably benign Het
Cemip T G 7: 83,596,438 (GRCm39) T1109P possibly damaging Het
Col7a1 C A 9: 108,795,511 (GRCm39) P1522Q unknown Het
Colgalt1 C T 8: 72,074,514 (GRCm39) L409F probably damaging Het
Crtc2 A G 3: 90,166,907 (GRCm39) M125V probably benign Het
Cyp2b19 T G 7: 26,458,519 (GRCm39) M78R possibly damaging Het
Cyp4a12a A C 4: 115,184,643 (GRCm39) D308A possibly damaging Het
D16Ertd472e T C 16: 78,342,155 (GRCm39) T242A probably benign Het
Ddah1 A G 3: 145,597,261 (GRCm39) D166G probably benign Het
Dsg1a A T 18: 20,469,043 (GRCm39) D607V probably damaging Het
Ebf1 T A 11: 44,774,712 (GRCm39) N236K probably damaging Het
Emc1 A G 4: 139,093,689 (GRCm39) T600A probably benign Het
Fbxo33 T C 12: 59,251,435 (GRCm39) N360S probably benign Het
Fbxw5 A G 2: 25,393,615 (GRCm39) D72G possibly damaging Het
Fhad1 T A 4: 141,618,263 (GRCm39) K1388* probably null Het
Fzd7 A G 1: 59,523,004 (GRCm39) M296V probably benign Het
Gdpd3 T C 7: 126,370,336 (GRCm39) I257T probably benign Het
Glt28d2 T G 3: 85,779,248 (GRCm39) D75A possibly damaging Het
Gm14295 G A 2: 176,502,937 (GRCm39) probably benign Het
Gm28729 A G 9: 96,401,494 (GRCm39) I98T probably damaging Het
Gm4924 C T 10: 82,213,065 (GRCm39) Q288* probably null Het
Gpr150 T C 13: 76,204,676 (GRCm39) M90V probably damaging Het
Ireb2 G A 9: 54,794,656 (GRCm39) V331I probably benign Het
Lpcat2b A T 5: 107,581,760 (GRCm39) Y363F probably benign Het
Me2 T C 18: 73,918,852 (GRCm39) I410V probably benign Het
Naxe T C 3: 87,965,537 (GRCm39) E58G probably damaging Het
Nlrp10 T A 7: 108,523,671 (GRCm39) D603V probably benign Het
Nlrp1b T A 11: 71,046,905 (GRCm39) Y1149F probably damaging Het
Nrg1 A G 8: 32,308,508 (GRCm39) Y503H probably damaging Het
Nxpe4 C T 9: 48,304,104 (GRCm39) P64S probably benign Het
Pkd1l3 A T 8: 110,349,811 (GRCm39) T219S unknown Het
Plagl1 T C 10: 13,002,975 (GRCm39) L81P probably damaging Het
Poglut3 T C 9: 53,311,042 (GRCm39) V481A possibly damaging Het
Polq A G 16: 36,866,174 (GRCm39) Q457R possibly damaging Het
Potefam1 A G 2: 111,058,293 (GRCm39) Y167H probably benign Het
Ppargc1a C A 5: 51,631,253 (GRCm39) A459S probably damaging Het
Ppp1r13l A G 7: 19,104,362 (GRCm39) D253G probably benign Het
Prl2c2 T A 13: 13,176,757 (GRCm39) N55Y probably damaging Het
Prlr T C 15: 10,328,935 (GRCm39) F470S probably benign Het
Serpina12 T C 12: 104,004,500 (GRCm39) D44G probably benign Het
Sfxn1 T G 13: 54,260,526 (GRCm39) S291R probably benign Het
Sipa1l1 A G 12: 82,388,446 (GRCm39) D224G probably benign Het
Slc30a7 A G 3: 115,784,392 (GRCm39) F123S probably damaging Het
Spata31f1a A G 4: 42,849,345 (GRCm39) V937A probably benign Het
Stox2 T A 8: 47,645,055 (GRCm39) M802L probably benign Het
Tmem150a G A 6: 72,333,728 (GRCm39) R30H probably benign Het
Tmem210 G A 2: 25,178,776 (GRCm39) probably null Het
Tor3a T C 1: 156,484,143 (GRCm39) N269S possibly damaging Het
Trp63 A C 16: 25,703,603 (GRCm39) N423T probably benign Het
Vmn2r60 A G 7: 41,785,045 (GRCm39) I86V possibly damaging Het
Vmn2r74 T C 7: 85,606,348 (GRCm39) I333V probably benign Het
Vwa7 C A 17: 35,240,186 (GRCm39) H385N possibly damaging Het
Wdr1 T C 5: 38,687,014 (GRCm39) probably null Het
Wdr31 A G 4: 62,381,661 (GRCm39) Y57H probably damaging Het
Zbtb44 T A 9: 30,964,678 (GRCm39) H29Q probably damaging Het
Zfp532 T A 18: 65,757,509 (GRCm39) S481T probably damaging Het
Zfp955b G T 17: 33,521,084 (GRCm39) R184S 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
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'- TGAACAGTGCTCACTCCTGC -3'
(R):5'- TCTAGTTGCAGAGAGCCTCAGAG -3'

Sequencing Primer
(F):5'- AGTGCTCACTCCTGCGCATAG -3'
(R):5'- TTCAAGGCCAGATGCAGC -3'
Posted On 2017-10-10