Incidental Mutation 'R9798:Tmod3'
ID 735058
Institutional Source Beutler Lab
Gene Symbol Tmod3
Ensembl Gene ENSMUSG00000058587
Gene Name tropomodulin 3
Synonyms U-Tmod, ubiquitous tropomodulin, UTMOD
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9798 (G1)
Quality Score 220.009
Status Not validated
Chromosome 9
Chromosomal Location 75405066-75466939 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 75436801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 45 (L45I)
Ref Sequence ENSEMBL: ENSMUSP00000072087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072232] [ENSMUST00000214171] [ENSMUST00000215821]
AlphaFold Q9JHJ0
Predicted Effect possibly damaging
Transcript: ENSMUST00000072232
AA Change: L45I

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072087
Gene: ENSMUSG00000058587
AA Change: L45I

DomainStartEndE-ValueType
Pfam:Tropomodulin 5 146 3.5e-63 PFAM
PDB:1IO0|A 167 347 5e-80 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000214171
AA Change: L45I

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215821
AA Change: L45I

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit lethality during fetal development with anemia due to impaired erythroid terminal differentiation in the fetal liver. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A T 13: 61,000,934 (GRCm39) S201T possibly damaging Het
Adamtsl1 A G 4: 86,074,927 (GRCm39) D98G probably damaging Het
Ahnak A G 19: 8,990,983 (GRCm39) D4089G probably damaging Het
Alpk3 T A 7: 80,742,400 (GRCm39) M739K probably benign Het
Asns T C 6: 7,689,395 (GRCm39) N36D possibly damaging Het
Bbs7 A T 3: 36,652,439 (GRCm39) M338K probably benign Het
Bbx T C 16: 50,045,121 (GRCm39) D480G probably damaging Het
Cc2d2b G A 19: 40,783,080 (GRCm39) V626I unknown Het
Celsr3 A T 9: 108,705,794 (GRCm39) D759V probably damaging Het
Entpd1 G A 19: 40,715,789 (GRCm39) V319M possibly damaging Het
Espnl G T 1: 91,251,286 (GRCm39) G127V probably damaging Het
Fgfr1 C T 8: 26,053,523 (GRCm39) T266I unknown Het
Fktn C T 4: 53,747,128 (GRCm39) H344Y probably damaging Het
Fryl T C 5: 73,192,402 (GRCm39) M2678V probably benign Het
Fsip2 T A 2: 82,810,225 (GRCm39) Y2181* probably null Het
Gm21698 A T 5: 26,189,184 (GRCm39) D256E probably damaging Het
Hipk1 C T 3: 103,651,431 (GRCm39) V1156I possibly damaging Het
Igsf10 T A 3: 59,239,126 (GRCm39) I352F probably damaging Het
Igsf5 C A 16: 96,174,075 (GRCm39) T35K probably damaging Het
Il23a G C 10: 128,132,829 (GRCm39) R143G probably benign Het
Kctd11 T G 11: 69,770,732 (GRCm39) H102P probably damaging Het
Msln T C 17: 25,972,771 (GRCm39) T37A probably benign Het
Or7g29 T A 9: 19,286,577 (GRCm39) Y200F probably benign Het
Or8u10 T C 2: 85,915,606 (GRCm39) N172D probably damaging Het
Phtf1 T C 3: 103,904,869 (GRCm39) S506P probably benign Het
Pias3 T C 3: 96,606,881 (GRCm39) I57T probably damaging Het
Psmc2 A G 5: 22,000,806 (GRCm39) I94V probably benign Het
Ripor1 T C 8: 106,342,798 (GRCm39) Y224H possibly damaging Het
Rrh C T 3: 129,605,421 (GRCm39) V229M probably damaging Het
Scaf4 G A 16: 90,045,533 (GRCm39) R526C unknown Het
Slc1a6 G A 10: 78,629,167 (GRCm39) probably null Het
Slc4a7 A G 14: 14,782,056 (GRCm38) D937G probably damaging Het
Slco1b2 C A 6: 141,601,079 (GRCm39) T134K probably damaging Het
Sptbn4 T C 7: 27,056,717 (GRCm39) *2562W probably null Het
Ston1 T C 17: 88,944,472 (GRCm39) V626A probably damaging Het
Synpo A T 18: 60,736,832 (GRCm39) D371E possibly damaging Het
Tex15 T A 8: 34,062,721 (GRCm39) V717D probably damaging Het
Top2b T C 14: 16,389,845 (GRCm38) F228L probably damaging Het
Trappc14 A G 5: 138,259,940 (GRCm39) M372T possibly damaging Het
Ush2a A G 1: 188,644,002 (GRCm39) T4455A possibly damaging Het
Vmn1r178 C A 7: 23,593,733 (GRCm39) Y260* probably null Het
Vps13c T A 9: 67,826,646 (GRCm39) I1429N probably damaging Het
Wdr31 A G 4: 62,381,651 (GRCm39) V60A probably benign Het
Other mutations in Tmod3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02572:Tmod3 APN 9 75,416,667 (GRCm39) missense probably benign
R1593:Tmod3 UTSW 9 75,418,445 (GRCm39) missense probably benign 0.09
R2111:Tmod3 UTSW 9 75,416,645 (GRCm39) missense probably damaging 0.99
R3825:Tmod3 UTSW 9 75,414,809 (GRCm39) splice site probably benign
R4912:Tmod3 UTSW 9 75,439,730 (GRCm39) missense probably damaging 1.00
R5023:Tmod3 UTSW 9 75,418,488 (GRCm39) missense probably damaging 1.00
R6086:Tmod3 UTSW 9 75,407,405 (GRCm39) missense probably benign
R6994:Tmod3 UTSW 9 75,416,669 (GRCm39) missense probably damaging 1.00
R8439:Tmod3 UTSW 9 75,436,680 (GRCm39) missense probably damaging 1.00
R9116:Tmod3 UTSW 9 75,412,202 (GRCm39) missense probably damaging 0.99
R9798:Tmod3 UTSW 9 75,436,805 (GRCm39) missense probably damaging 0.98
R9798:Tmod3 UTSW 9 75,436,803 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGGGCATCCATTCCCAAAAG -3'
(R):5'- TGGCACATGTACTCCCTCAC -3'

Sequencing Primer
(F):5'- CTACTGAATAAAAACACAGTCCTGG -3'
(R):5'- TCACACCCAAAATCAGTACATCAGTG -3'
Posted On 2022-11-14