Incidental Mutation 'R2914:Tmod1'
ID 254792
Institutional Source Beutler Lab
Gene Symbol Tmod1
Ensembl Gene ENSMUSG00000028328
Gene Name tropomodulin 1
Synonyms E-Tmod, erythrocyte tropomodulin
MMRRC Submission 040501-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2914 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 46038940-46116032 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46092259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 203 (N203I)
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: N203I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103402
Gene: ENSMUSG00000028328
AA Change: N203I

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 0.9582 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (41/41)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 A G 5: 30,401,992 (GRCm39) S679P probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cryl1 T C 14: 57,513,375 (GRCm39) E282G probably benign Het
Dbn1 A G 13: 55,630,234 (GRCm39) F45L probably damaging Het
Dclre1b T C 3: 103,715,430 (GRCm39) M105V probably damaging Het
Defb12 T C 8: 19,164,830 (GRCm39) N3D probably benign Het
Eprs1 G A 1: 185,111,939 (GRCm39) probably null Het
Fa2h T C 8: 112,120,281 (GRCm39) D35G probably damaging Het
Fdxacb1 C T 9: 50,679,699 (GRCm39) A39V probably benign Het
Fras1 G A 5: 96,881,774 (GRCm39) R2502K probably benign Het
Grm1 A G 10: 10,955,601 (GRCm39) S228P probably benign Het
Il27ra T A 8: 84,758,242 (GRCm39) probably benign Het
Lrrtm1 A T 6: 77,221,962 (GRCm39) Q473L probably damaging Het
Macf1 T A 4: 123,369,704 (GRCm39) I121F probably damaging Het
Mael A T 1: 166,054,179 (GRCm39) F188I probably damaging Het
Mapk4 C T 18: 74,068,236 (GRCm39) A232T probably benign Het
Mrpl9 C A 3: 94,351,108 (GRCm39) T96K probably damaging Het
Musk C A 4: 58,366,938 (GRCm39) L511I probably damaging Het
Mutyh G A 4: 116,672,826 (GRCm39) D60N probably damaging Het
Nckap5 A T 1: 125,954,274 (GRCm39) probably null Het
Nktr T C 9: 121,578,670 (GRCm39) probably benign Het
Otud7b C A 3: 96,063,272 (GRCm39) A837E probably benign Het
Pigb A T 9: 72,947,060 (GRCm39) probably null Het
Pip4k2b G T 11: 97,613,260 (GRCm39) N245K probably benign Het
Ptprd T A 4: 75,865,338 (GRCm39) D1464V probably damaging Het
Rab22a A G 2: 173,537,074 (GRCm39) N98S probably benign Het
Rictor G T 15: 6,799,476 (GRCm39) probably null Het
Rims1 T C 1: 22,844,711 (GRCm39) E32G probably damaging Het
Slx4ip A G 2: 136,909,511 (GRCm39) probably null Het
Snx19 G A 9: 30,344,828 (GRCm39) probably benign Het
Snx29 C T 16: 11,265,317 (GRCm39) R516W probably damaging Het
Tcof1 T C 18: 60,949,156 (GRCm39) D1253G possibly damaging Het
Tmprss15 T C 16: 78,759,078 (GRCm39) N880S probably benign Het
Ttn A T 2: 76,599,979 (GRCm39) I19065N probably damaging Het
Txk T C 5: 72,881,794 (GRCm39) N154S probably damaging Het
Utp20 A G 10: 88,590,337 (GRCm39) probably null Het
Vmn1r65 T A 7: 6,012,040 (GRCm39) I65F possibly damaging Het
Yes1 T C 5: 32,797,926 (GRCm39) S82P probably benign 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
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
R3952:Tmod1 UTSW 4 46,078,315 (GRCm39) missense probably damaging 0.98
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'- CCCAGGGAGTCCTTTTGTTG -3'
(R):5'- TGAGAGATTTGCCTGTTGACAC -3'

Sequencing Primer
(F):5'- CCTTTTGTTGGGAGAAAGTGACTC -3'
(R):5'- AGAGATTTGCCTGTTGACACTAGTC -3'
Posted On 2014-12-29