Incidental Mutation 'R4211:Tmod4'
ID 319179
Institutional Source Beutler Lab
Gene Symbol Tmod4
Ensembl Gene ENSMUSG00000005628
Gene Name tropomodulin 4
Synonyms skeletal tropomodulin, MTMOD, Sk-Tmod
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R4211 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 95031787-95036520 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95035140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 215 (D215G)
Ref Sequence ENSEMBL: ENSMUSP00000102846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005769] [ENSMUST00000009102] [ENSMUST00000107227] [ENSMUST00000131597] [ENSMUST00000173462] [ENSMUST00000172572]
AlphaFold Q9JLH8
Predicted Effect probably benign
Transcript: ENSMUST00000005769
AA Change: D215G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000005769
Gene: ENSMUSG00000005628
AA Change: D215G

DomainStartEndE-ValueType
Pfam:Tropomodulin 4 143 2.7e-62 PFAM
PDB:1IO0|A 160 343 6e-77 PDB
SCOP:d1a4ya_ 184 289 4e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000009102
SMART Domains Protein: ENSMUSP00000009102
Gene: ENSMUSG00000008958

DomainStartEndE-ValueType
Pfam:YL1 5 216 5.1e-58 PFAM
low complexity region 247 264 N/A INTRINSIC
YL1_C 294 323 5.99e-9 SMART
low complexity region 335 358 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107227
AA Change: D215G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102846
Gene: ENSMUSG00000005628
AA Change: D215G

DomainStartEndE-ValueType
Pfam:Tropomodulin 1 144 4.4e-72 PFAM
PDB:1IO0|A 160 343 6e-77 PDB
SCOP:d1a4ya_ 184 289 4e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130545
Predicted Effect probably benign
Transcript: ENSMUST00000131597
SMART Domains Protein: ENSMUSP00000116341
Gene: ENSMUSG00000005628

DomainStartEndE-ValueType
Pfam:Tropomodulin 1 144 1.5e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135867
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149898
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173527
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174835
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196728
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174508
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199730
Predicted Effect probably benign
Transcript: ENSMUST00000173462
SMART Domains Protein: ENSMUSP00000133769
Gene: ENSMUSG00000092607

DomainStartEndE-ValueType
Blast:ZnF_C2H2 42 68 2e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000172572
SMART Domains Protein: ENSMUSP00000134337
Gene: ENSMUSG00000092607

DomainStartEndE-ValueType
Pfam:zf-SCNM1 44 70 7.6e-19 PFAM
low complexity region 133 148 N/A INTRINSIC
low complexity region 172 179 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and exhibit no overt myopathy, with normal thin filament lengths, myofibril organization, and skeletal muscle contractile function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,283,209 (GRCm39) I166V probably benign Het
Albfm1 T G 5: 90,712,096 (GRCm39) V63G probably damaging Het
Anapc5 T C 5: 122,955,968 (GRCm39) E154G probably benign Het
Anpep A T 7: 79,490,744 (GRCm39) Y257* probably null Het
Atp8b1 A T 18: 64,686,118 (GRCm39) D688E probably damaging Het
Bub1b C A 2: 118,461,459 (GRCm39) H670Q possibly damaging Het
Casp3 G T 8: 47,088,423 (GRCm39) D107Y probably damaging Het
Castor2 T C 5: 134,154,783 (GRCm39) probably null Het
Clcc1 A T 3: 108,570,907 (GRCm39) Y105F possibly damaging Het
Cr2 A C 1: 194,838,636 (GRCm39) L671R probably damaging Het
Cttnbp2 A G 6: 18,427,542 (GRCm39) V713A probably damaging Het
Cyp4a31 T C 4: 115,422,210 (GRCm39) F65L probably benign Het
Dpysl2 T C 14: 67,052,926 (GRCm39) S308G probably damaging Het
Dusp22 A T 13: 30,892,726 (GRCm39) I168F probably benign Het
Ecel1 A G 1: 87,079,872 (GRCm39) S414P probably damaging Het
Fat2 A G 11: 55,174,810 (GRCm39) F1968L probably damaging Het
Fsip2 C T 2: 82,805,493 (GRCm39) T604I probably damaging Het
H2-DMb1 T A 17: 34,374,547 (GRCm39) F66I possibly damaging Het
Hgf T C 5: 16,819,991 (GRCm39) V574A probably damaging Het
Hoxa7 A T 6: 52,193,605 (GRCm39) Y137* probably null Het
Ikbke T A 1: 131,191,085 (GRCm39) I519F probably damaging Het
Inpp5j T G 11: 3,451,107 (GRCm39) H514P probably damaging Het
Kmt2d A G 15: 98,738,070 (GRCm39) probably benign Het
Larp7 T A 3: 127,340,603 (GRCm39) R112S probably benign Het
Lepr C T 4: 101,590,611 (GRCm39) A63V probably benign Het
Lmx1a G T 1: 167,660,428 (GRCm39) V238L probably damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mcmbp T C 7: 128,317,729 (GRCm39) E172G possibly damaging Het
Mcpt8 G A 14: 56,321,375 (GRCm39) H30Y probably damaging Het
Nek8 C A 11: 78,061,309 (GRCm39) V379L probably benign Het
Numa1 T G 7: 101,658,945 (GRCm39) L356R probably damaging Het
Pard6b C T 2: 167,940,943 (GRCm39) A310V probably benign Het
Pcgf5 C A 19: 36,414,740 (GRCm39) N26K possibly damaging Het
Phtf1 G A 3: 103,910,919 (GRCm39) probably null Het
Plch1 C A 3: 63,618,640 (GRCm39) D675Y probably damaging Het
Plk2 A G 13: 110,532,871 (GRCm39) H144R probably damaging Het
Rax T A 18: 66,068,152 (GRCm39) N318Y unknown Het
Slc9a5 A G 8: 106,085,103 (GRCm39) N535D possibly damaging Het
Smarcd2 T A 11: 106,157,731 (GRCm39) K138* probably null Het
Taar7e A T 10: 23,913,932 (GRCm39) I141F probably damaging Het
Taar7f T A 10: 23,925,921 (GRCm39) W172R probably damaging Het
Tango6 A G 8: 107,415,856 (GRCm39) I226V probably benign Het
Tcn2 T C 11: 3,872,114 (GRCm39) K338E possibly damaging Het
Tdp1 C A 12: 99,864,588 (GRCm39) A243E probably damaging Het
Tfpt A G 7: 3,623,386 (GRCm39) Y240H probably damaging Het
Top3b A G 16: 16,700,396 (GRCm39) probably null Het
Urgcp C A 11: 5,665,878 (GRCm39) G820V probably damaging Het
Zfand2b A T 1: 75,146,454 (GRCm39) M110L probably benign Het
Zfyve1 A T 12: 83,621,909 (GRCm39) V162E probably damaging Het
Other mutations in Tmod4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00851:Tmod4 APN 3 95,032,891 (GRCm39) missense probably damaging 1.00
IGL01339:Tmod4 APN 3 95,035,608 (GRCm39) missense probably benign 0.23
IGL01785:Tmod4 APN 3 95,032,929 (GRCm39) missense probably benign
IGL02160:Tmod4 APN 3 95,036,424 (GRCm39) unclassified probably benign
IGL02303:Tmod4 APN 3 95,032,953 (GRCm39) missense probably benign 0.24
2107:Tmod4 UTSW 3 95,037,479 (GRCm39) splice site probably null
R0042:Tmod4 UTSW 3 95,037,099 (GRCm39) missense possibly damaging 0.90
R1515:Tmod4 UTSW 3 95,035,990 (GRCm39) missense possibly damaging 0.76
R4210:Tmod4 UTSW 3 95,035,140 (GRCm39) missense probably benign 0.00
R6093:Tmod4 UTSW 3 95,032,929 (GRCm39) missense probably benign
R6181:Tmod4 UTSW 3 95,035,118 (GRCm39) missense probably damaging 1.00
R6294:Tmod4 UTSW 3 95,035,617 (GRCm39) missense probably benign 0.05
R6351:Tmod4 UTSW 3 95,035,164 (GRCm39) missense probably damaging 1.00
R7417:Tmod4 UTSW 3 95,033,174 (GRCm39) missense possibly damaging 0.87
R7806:Tmod4 UTSW 3 95,034,915 (GRCm39) missense probably benign 0.00
R8272:Tmod4 UTSW 3 95,033,171 (GRCm39) missense probably damaging 0.99
R8921:Tmod4 UTSW 3 95,033,289 (GRCm39) critical splice donor site probably null
R9508:Tmod4 UTSW 3 95,034,713 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCACAAACATTGAGGAGATGC -3'
(R):5'- CCTGCAGAATTGTGAGCCAG -3'

Sequencing Primer
(F):5'- CCACAAACATTGAGGAGATGCTAAAG -3'
(R):5'- TTGAGGTCTGCCATAAGAAAACATG -3'
Posted On 2015-06-10