Incidental Mutation 'R5726:Tpm1'
ID 452495
Institutional Source Beutler Lab
Gene Symbol Tpm1
Ensembl Gene ENSMUSG00000032366
Gene Name tropomyosin 1, alpha
Synonyms TM2, Tpm-1, alpha-TM, Tm3
MMRRC Submission 043344-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5726 (G1)
Quality Score 144
Status Validated
Chromosome 9
Chromosomal Location 66929872-66956688 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 66930694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 310 (L310F)
Ref Sequence ENSEMBL: ENSMUSP00000034928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034928] [ENSMUST00000050905] [ENSMUST00000113684] [ENSMUST00000113685] [ENSMUST00000113686] [ENSMUST00000113687] [ENSMUST00000113697] [ENSMUST00000113695] [ENSMUST00000113696] [ENSMUST00000113701] [ENSMUST00000113705] [ENSMUST00000113707] [ENSMUST00000113693] [ENSMUST00000129733] [ENSMUST00000139046] [ENSMUST00000113689] [ENSMUST00000113690]
AlphaFold P58771
Predicted Effect probably damaging
Transcript: ENSMUST00000034928
AA Change: L310F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034928
Gene: ENSMUSG00000032366
AA Change: L310F

DomainStartEndE-ValueType
low complexity region 20 35 N/A INTRINSIC
Pfam:Tropomyosin_1 56 195 4.1e-29 PFAM
Pfam:Tropomyosin 90 326 5.9e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000050905
SMART Domains Protein: ENSMUSP00000051888
Gene: ENSMUSG00000032366

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 7 153 2.2e-39 PFAM
Pfam:Tropomyosin 48 284 5.1e-98 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113684
SMART Domains Protein: ENSMUSP00000109314
Gene: ENSMUSG00000032366

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 3 117 1.4e-22 PFAM
Pfam:Tropomyosin 12 248 8.1e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113685
SMART Domains Protein: ENSMUSP00000109315
Gene: ENSMUSG00000032366

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 7 153 2.2e-39 PFAM
Pfam:Tropomyosin 48 284 3.1e-102 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113686
SMART Domains Protein: ENSMUSP00000109316
Gene: ENSMUSG00000032366

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 4 117 2.9e-23 PFAM
Pfam:Tropomyosin 12 228 8.4e-92 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113687
SMART Domains Protein: ENSMUSP00000109317
Gene: ENSMUSG00000032366

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 7 153 7.4e-40 PFAM
Pfam:Tropomyosin 48 264 1.8e-92 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113697
AA Change: L268F

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109327
Gene: ENSMUSG00000032366
AA Change: L268F

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 7 153 2.2e-39 PFAM
Pfam:Tropomyosin 48 284 1.1e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113695
AA Change: L232F

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109325
Gene: ENSMUSG00000032366
AA Change: L232F

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 4 117 6.1e-23 PFAM
Pfam:Tropomyosin 12 248 1.5e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113696
AA Change: L232F

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109326
Gene: ENSMUSG00000032366
AA Change: L232F

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 4 117 6.1e-23 PFAM
Pfam:Tropomyosin 12 248 2.5e-93 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113701
AA Change: L268F

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109331
Gene: ENSMUSG00000032366
AA Change: L268F

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 7 153 1.9e-31 PFAM
Pfam:Tropomyosin 48 284 1.6e-90 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113705
AA Change: L268F

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109335
Gene: ENSMUSG00000032366
AA Change: L268F

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 7 153 1.9e-31 PFAM
Pfam:Tropomyosin 48 284 9.5e-95 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113707
AA Change: L268F

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109337
Gene: ENSMUSG00000032366
AA Change: L268F

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 7 153 2.2e-39 PFAM
Pfam:Tropomyosin 48 284 6.3e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113693
SMART Domains Protein: ENSMUSP00000109323
Gene: ENSMUSG00000032366

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 7 153 6.1e-37 PFAM
Pfam:Tropomyosin 48 280 8.6e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129733
SMART Domains Protein: ENSMUSP00000138784
Gene: ENSMUSG00000032366

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 7 153 4e-36 PFAM
Pfam:Tropomyosin 48 128 7.3e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139046
Predicted Effect probably benign
Transcript: ENSMUST00000113689
SMART Domains Protein: ENSMUSP00000109319
Gene: ENSMUSG00000032366

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 3 117 1.4e-22 PFAM
Pfam:Tropomyosin 12 244 8.8e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113690
SMART Domains Protein: ENSMUSP00000109320
Gene: ENSMUSG00000032366

DomainStartEndE-ValueType
Pfam:Tropomyosin_1 4 117 5.9e-23 PFAM
Pfam:Tropomyosin 12 244 8.3e-94 PFAM
Meta Mutation Damage Score 0.1189 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 100% (72/72)
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik T C 7: 127,835,832 (GRCm39) K254E probably damaging Het
Aak1 C T 6: 86,902,106 (GRCm39) Q92* probably null Het
Acss3 T C 10: 106,959,183 (GRCm39) T88A possibly damaging Het
Adcy4 A T 14: 56,021,118 (GRCm39) S6R probably damaging Het
Aldh1l2 T C 10: 83,348,170 (GRCm39) E311G possibly damaging Het
Arhgap25 C T 6: 87,440,441 (GRCm39) S402N probably benign Het
Btn1a1 T A 13: 23,643,522 (GRCm39) D309V probably damaging Het
Cdh23 C T 10: 60,243,259 (GRCm39) V1037M probably damaging Het
Clcn2 T C 16: 20,529,285 (GRCm39) probably benign Het
Cln3 T C 7: 126,174,673 (GRCm39) T276A probably null Het
CN725425 A G 15: 91,144,706 (GRCm39) E523G possibly damaging Het
Crppa T C 12: 36,597,829 (GRCm39) V320A probably damaging Het
Cspg4 A T 9: 56,793,188 (GRCm39) T308S probably damaging Het
Dgkh G T 14: 78,862,342 (GRCm39) F208L probably benign Het
Eif2ak4 A G 2: 118,273,613 (GRCm39) D846G probably damaging Het
Fmo4 A G 1: 162,635,828 (GRCm39) probably null Het
Foxp4 A G 17: 48,180,033 (GRCm39) Y623H unknown Het
Fxr2 T C 11: 69,524,172 (GRCm39) V10A probably benign Het
Gm10271 T C 10: 116,792,792 (GRCm39) probably null Het
Gsk3b T C 16: 38,028,498 (GRCm39) probably benign Het
Ift43 T A 12: 86,208,957 (GRCm39) D169E probably damaging Het
Ift57 T A 16: 49,519,861 (GRCm39) L54H probably damaging Het
Ighv1-37 T C 12: 114,860,294 (GRCm39) probably benign Het
Kl A G 5: 150,915,003 (GRCm39) N910S possibly damaging Het
Lrp2 T C 2: 69,339,491 (GRCm39) D1140G probably damaging Het
Map1a G A 2: 121,135,546 (GRCm39) A1883T probably damaging Het
Map4k2 G T 19: 6,401,362 (GRCm39) G611C probably damaging Het
Mical1 A G 10: 41,359,692 (GRCm39) probably benign Het
Myh14 A G 7: 44,292,886 (GRCm39) probably null Het
Myh8 T A 11: 67,185,392 (GRCm39) V881D possibly damaging Het
Myo1g G T 11: 6,459,420 (GRCm39) Q817K probably benign Het
Nin A C 12: 70,124,953 (GRCm39) V123G probably damaging Het
Nup160 A G 2: 90,548,195 (GRCm39) D976G probably damaging Het
Nup210l A T 3: 90,036,514 (GRCm39) probably null Het
Or5an1c A G 19: 12,218,644 (GRCm39) I127T probably damaging Het
Phf14 T C 6: 11,933,537 (GRCm39) probably benign Het
Podxl2 T C 6: 88,825,721 (GRCm39) D400G probably damaging Het
Pygl C T 12: 70,237,916 (GRCm39) W707* probably null Het
Rnf19b T C 4: 128,965,685 (GRCm39) V261A possibly damaging Het
Rnf213 A G 11: 119,307,284 (GRCm39) Y648C probably damaging Het
Scn5a C T 9: 119,362,913 (GRCm39) R569H probably damaging Het
Sdk2 A G 11: 113,742,626 (GRCm39) L761P probably damaging Het
Shroom3 C T 5: 93,090,864 (GRCm39) P1124S probably benign Het
Sirt4 A G 5: 115,617,705 (GRCm39) V317A probably benign Het
Skic3 T C 13: 76,266,466 (GRCm39) Y238H probably damaging Het
Slc12a2 G T 18: 58,029,426 (GRCm39) A271S probably benign Het
Slc6a9 A G 4: 117,721,210 (GRCm39) Y208C probably damaging Het
Snap23 T A 2: 120,414,752 (GRCm39) probably benign Het
Sra1 C T 18: 36,803,226 (GRCm39) probably benign Het
Srbd1 C T 17: 86,428,157 (GRCm39) D359N possibly damaging Het
Srp19 A G 18: 34,464,826 (GRCm39) Y22C probably damaging Het
Sstr4 T C 2: 148,238,003 (GRCm39) S205P probably damaging Het
Sv2b T C 7: 74,773,962 (GRCm39) D503G possibly damaging Het
Tbc1d30 C T 10: 121,103,479 (GRCm39) V518M probably damaging Het
Tlr4 A G 4: 66,758,652 (GRCm39) K482E probably benign Het
Trpm6 A G 19: 18,830,981 (GRCm39) Y1282C probably damaging Het
Tsc22d1 T A 14: 76,742,757 (GRCm39) L65* probably null Het
Ttc39c C A 18: 12,830,992 (GRCm39) A284D probably damaging Het
Txndc16 G A 14: 45,403,221 (GRCm39) H297Y probably benign Het
Utrn A T 10: 12,545,550 (GRCm39) D1698E probably benign Het
Vmn1r232 C T 17: 21,133,601 (GRCm39) R333H probably benign Het
Vmn2r14 A T 5: 109,365,486 (GRCm39) D529E possibly damaging Het
Vmn2r70 C T 7: 85,208,315 (GRCm39) V721I probably damaging Het
Zbtb18 A G 1: 177,276,119 (GRCm39) H484R probably damaging Het
Zc3h13 T A 14: 75,568,269 (GRCm39) S1187R possibly damaging Het
Zfhx4 T A 3: 5,468,381 (GRCm39) D2846E probably benign Het
Other mutations in Tpm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Tpm1 APN 9 66,943,337 (GRCm39) missense probably damaging 1.00
IGL01288:Tpm1 APN 9 66,943,337 (GRCm39) missense probably damaging 1.00
IGL01569:Tpm1 APN 9 66,938,390 (GRCm39) splice site probably null
R1137:Tpm1 UTSW 9 66,938,400 (GRCm39) splice site probably null
R1554:Tpm1 UTSW 9 66,930,711 (GRCm39) missense probably benign 0.04
R2012:Tpm1 UTSW 9 66,941,247 (GRCm39) nonsense probably null
R2898:Tpm1 UTSW 9 66,938,322 (GRCm39) missense probably damaging 1.00
R3723:Tpm1 UTSW 9 66,939,227 (GRCm39) intron probably benign
R3724:Tpm1 UTSW 9 66,939,227 (GRCm39) intron probably benign
R4172:Tpm1 UTSW 9 66,930,649 (GRCm39) missense probably benign 0.34
R4427:Tpm1 UTSW 9 66,939,847 (GRCm39) intron probably benign
R4934:Tpm1 UTSW 9 66,935,331 (GRCm39) splice site probably null
R5605:Tpm1 UTSW 9 66,956,317 (GRCm39) missense probably damaging 0.99
R6556:Tpm1 UTSW 9 66,935,451 (GRCm39) critical splice acceptor site probably null
R6910:Tpm1 UTSW 9 66,939,256 (GRCm39) missense probably damaging 1.00
R7242:Tpm1 UTSW 9 66,935,383 (GRCm39) missense probably benign
R7386:Tpm1 UTSW 9 66,935,449 (GRCm39) missense probably benign
R8463:Tpm1 UTSW 9 66,955,512 (GRCm39) missense probably benign 0.01
R8755:Tpm1 UTSW 9 66,935,371 (GRCm39) missense probably benign 0.15
R9035:Tpm1 UTSW 9 66,955,138 (GRCm39) missense possibly damaging 0.53
R9294:Tpm1 UTSW 9 66,936,998 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCAGATGTTTCAGTGACAGTGG -3'
(R):5'- TGCACTTTACGTCAGGGTGG -3'

Sequencing Primer
(F):5'- TGTTTCAGTGACAGTGGTAAAAG -3'
(R):5'- ACGTCAGGGTGGGTTGCAG -3'
Posted On 2017-01-03