Incidental Mutation 'IGL03375:Tmod1'
ID 420459
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmod1
Ensembl Gene ENSMUSG00000028328
Gene Name tropomodulin 1
Synonyms E-Tmod, erythrocyte tropomodulin
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03375
Quality Score
Status
Chromosome 4
Chromosomal Location 46038940-46116032 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46096999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 264 (I264T)
Ref Sequence ENSEMBL: ENSMUSP00000103402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107773]
AlphaFold P49813
Predicted Effect probably damaging
Transcript: ENSMUST00000107773
AA Change: I264T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103402
Gene: ENSMUSG00000028328
AA Change: I264T

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: ENSMUST00000155730
Coding Region Coverage
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap31 A G 16: 38,423,190 (GRCm39) S959P probably damaging Het
Arrb2 G A 11: 70,327,005 (GRCm39) G24D probably damaging Het
Catsper4 A G 4: 133,945,519 (GRCm39) I180T probably damaging Het
Chst15 G A 7: 131,872,186 (GRCm39) Q32* probably null Het
Cntnap5c A T 17: 58,469,200 (GRCm39) Y594F possibly damaging Het
Cse1l T A 2: 166,784,977 (GRCm39) probably benign Het
Dab1 A T 4: 104,538,798 (GRCm39) I201F possibly damaging Het
Eif2ak4 T C 2: 118,252,799 (GRCm39) V457A probably benign Het
Fkbp1b T C 12: 4,888,220 (GRCm39) probably benign Het
Fryl C A 5: 73,245,792 (GRCm39) V1122F possibly damaging Het
Gas2l2 A G 11: 83,317,036 (GRCm39) probably benign Het
Gstt2 A T 10: 75,668,655 (GRCm39) probably null Het
H4c14 T C 3: 96,170,458 (GRCm39) T55A possibly damaging Het
Hcst T G 7: 30,118,036 (GRCm39) probably benign Het
Hectd4 A G 5: 121,466,445 (GRCm39) E2420G possibly damaging Het
Ifi206 A T 1: 173,308,344 (GRCm39) S551T probably benign Het
Itgb3bp A G 4: 99,657,724 (GRCm39) probably benign Het
Krtap6-2 A G 16: 89,216,644 (GRCm39) Y108H unknown Het
Krtap6-5 T G 16: 88,844,740 (GRCm39) probably benign Het
Muc5b A G 7: 141,415,699 (GRCm39) T2882A possibly damaging Het
Nup214 C T 2: 31,900,233 (GRCm39) T854M probably damaging Het
Olfml2b A G 1: 170,477,401 (GRCm39) K179E probably benign Het
Or10d1b A G 9: 39,613,871 (GRCm39) S65P probably damaging Het
Or4k37 A T 2: 111,159,229 (GRCm39) H155L probably damaging Het
Per2 A T 1: 91,351,950 (GRCm39) I852K possibly damaging Het
Pkhd1 A T 1: 20,187,247 (GRCm39) I3687N probably damaging Het
Slc7a2 A T 8: 41,369,410 (GRCm39) S622C probably damaging Het
Smarcc2 G A 10: 128,318,781 (GRCm39) V719I probably damaging Het
Syne2 T C 12: 75,972,209 (GRCm39) I1033T possibly damaging Het
Tmtc3 G A 10: 100,283,581 (GRCm39) A658V possibly damaging Het
Top6bl T C 19: 4,748,206 (GRCm39) E164G probably benign Het
Tpm3 A G 3: 89,981,079 (GRCm39) E56G possibly damaging Het
Tra2b T C 16: 22,065,993 (GRCm39) probably benign Het
Trmu T A 15: 85,779,138 (GRCm39) Y262N possibly damaging Het
Uox C T 3: 146,331,590 (GRCm39) T213I probably damaging Het
Vps13d A G 4: 144,818,517 (GRCm39) W2R probably damaging Het
Other mutations in Tmod1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2016-08-02