Incidental Mutation 'R3952:Tmod1'
ID 307984
Institutional Source Beutler Lab
Gene Symbol Tmod1
Ensembl Gene ENSMUSG00000028328
Gene Name tropomodulin 1
Synonyms E-Tmod, erythrocyte tropomodulin
MMRRC Submission 040829-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3952 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 46038940-46116032 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46078315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 41 (N41S)
Ref Sequence ENSEMBL: ENSMUSP00000103402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107773] [ENSMUST00000156200]
AlphaFold P49813
Predicted Effect probably damaging
Transcript: ENSMUST00000107773
AA Change: N41S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103402
Gene: ENSMUSG00000028328
AA Change: N41S

DomainStartEndE-ValueType
Pfam:Tropomodulin 3 143 6.3e-64 PFAM
PDB:1IO0|A 160 344 1e-115 PDB
SCOP:d1a4ya_ 181 312 3e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136553
Predicted Effect probably benign
Transcript: ENSMUST00000156200
Meta Mutation Damage Score 0.2916 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (46/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tropomodulin family. The encoded protein is an actin-capping protein that regulates tropomyosin by binding to its N-terminus, inhibiting depolymerization and elongation of the pointed end of actin filaments and thereby influencing the structure of the erythrocyte membrane skeleton. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous inactivation of this locus results in aborted heart development and consequent embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,451,158 (GRCm39) probably benign Het
4932414N04Rik T C 2: 68,494,747 (GRCm39) probably null Het
Abi3bp C T 16: 56,424,401 (GRCm39) T450I possibly damaging Het
Abl1 A T 2: 31,674,549 (GRCm39) T213S probably damaging Het
Apc2 C T 10: 80,150,318 (GRCm39) R1762W probably damaging Het
Arl2 G T 19: 6,184,707 (GRCm39) T182N probably benign Het
Brd8 C G 18: 34,747,497 (GRCm39) probably benign Het
Cdh23 T C 10: 60,493,105 (GRCm39) Y3C probably benign Het
Clca3a2 A G 3: 144,508,822 (GRCm39) Y666H probably damaging Het
Cmya5 A G 13: 93,225,707 (GRCm39) V3127A possibly damaging Het
Copg1 G A 6: 87,882,198 (GRCm39) A598T probably benign Het
Dera A G 6: 137,814,118 (GRCm39) Y100C probably damaging Het
Epha1 C A 6: 42,341,219 (GRCm39) L535F probably damaging Het
Epha4 A T 1: 77,376,353 (GRCm39) Y509N probably damaging Het
Fads2b T C 2: 85,330,548 (GRCm39) probably benign Het
Ggcx G A 6: 72,403,541 (GRCm39) G363R probably benign Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Kpna1 A T 16: 35,823,252 (GRCm39) T35S probably benign Het
Map3k20 T G 2: 72,268,644 (GRCm39) I550M probably damaging Het
Mgat4a A G 1: 37,489,495 (GRCm39) probably benign Het
Mrpl48 T A 7: 100,209,130 (GRCm39) probably benign Het
Ncapd2 T C 6: 125,163,747 (GRCm39) K78E probably damaging Het
Ndst1 T C 18: 60,830,211 (GRCm39) N633S probably benign Het
Or10a3n C A 7: 108,493,189 (GRCm39) V142L probably benign Het
Or5w10 T C 2: 87,375,409 (GRCm39) T160A probably damaging Het
Or6c69 A G 10: 129,747,505 (GRCm39) I214T probably benign Het
Pacs2 T C 12: 113,024,733 (GRCm39) S408P probably damaging Het
Pcx C T 19: 4,667,995 (GRCm39) H506Y probably benign Het
Pla2g6 G T 15: 79,197,296 (GRCm39) P93T probably damaging Het
Pramel28 C T 4: 143,692,356 (GRCm39) W215* probably null Het
Prb1b G A 6: 132,289,657 (GRCm39) P56S unknown Het
Rcor1 A G 12: 111,006,169 (GRCm39) probably benign Het
Rtn4ip1 T A 10: 43,785,893 (GRCm39) probably null Het
Sytl2 T A 7: 90,030,700 (GRCm39) probably benign Het
Tia1 T C 6: 86,393,319 (GRCm39) F53S probably damaging Het
Ticrr T C 7: 79,331,817 (GRCm39) L776S probably damaging Het
Ttn T C 2: 76,583,139 (GRCm39) I22585V possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ugt1a10 C A 1: 88,143,862 (GRCm39) H361N probably damaging Het
Vmn1r118 G T 7: 20,645,933 (GRCm39) Q114K probably damaging Het
Vps39 C T 2: 120,180,656 (GRCm39) R43Q probably benign Het
Vwa5b2 T C 16: 20,417,111 (GRCm39) *603Q probably null Het
Zeb1 G A 18: 5,772,716 (GRCm39) A1002T probably benign Het
Zxdc A G 6: 90,347,449 (GRCm39) probably null Het
Other mutations in Tmod1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03375:Tmod1 APN 4 46,096,999 (GRCm39) missense probably damaging 1.00
R1445:Tmod1 UTSW 4 46,090,884 (GRCm39) missense probably damaging 1.00
R1513:Tmod1 UTSW 4 46,083,549 (GRCm39) missense possibly damaging 0.61
R1888:Tmod1 UTSW 4 46,097,069 (GRCm39) synonymous silent
R1980:Tmod1 UTSW 4 46,061,043 (GRCm39) missense probably damaging 1.00
R2914:Tmod1 UTSW 4 46,092,259 (GRCm39) missense probably damaging 1.00
R3725:Tmod1 UTSW 4 46,097,026 (GRCm39) missense probably benign 0.11
R3726:Tmod1 UTSW 4 46,097,026 (GRCm39) missense probably benign 0.11
R4854:Tmod1 UTSW 4 46,090,920 (GRCm39) missense possibly damaging 0.80
R4989:Tmod1 UTSW 4 46,090,872 (GRCm39) missense probably damaging 0.97
R6254:Tmod1 UTSW 4 46,078,469 (GRCm39) splice site probably null
R7212:Tmod1 UTSW 4 46,093,951 (GRCm39) nonsense probably null
R7570:Tmod1 UTSW 4 46,083,632 (GRCm39) missense probably benign 0.15
R7572:Tmod1 UTSW 4 46,083,593 (GRCm39) missense possibly damaging 0.53
R9336:Tmod1 UTSW 4 46,078,368 (GRCm39) missense probably damaging 1.00
R9438:Tmod1 UTSW 4 46,093,958 (GRCm39) missense probably damaging 1.00
Z1176:Tmod1 UTSW 4 46,092,271 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CTCCTTAAGTGCCCTGTGAC -3'
(R):5'- CCGTGCTGTTTAGTACCTCG -3'

Sequencing Primer
(F):5'- CTTGCAGGTTCCTTGCATAGAAAAGG -3'
(R):5'- CGTTTCTCCCCTGTGTAGG -3'
Posted On 2015-04-17