Incidental Mutation 'R6181:Tmod4'
ID 488062
Institutional Source Beutler Lab
Gene Symbol Tmod4
Ensembl Gene ENSMUSG00000005628
Gene Name tropomodulin 4
Synonyms skeletal tropomodulin, MTMOD, Sk-Tmod
MMRRC Submission 044323-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R6181 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 95031787-95036520 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95035118 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 208 (I208F)
Ref Sequence ENSEMBL: ENSMUSP00000102846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005769] [ENSMUST00000009102] [ENSMUST00000107227] [ENSMUST00000131597] [ENSMUST00000172572] [ENSMUST00000173462]
AlphaFold Q9JLH8
Predicted Effect probably damaging
Transcript: ENSMUST00000005769
AA Change: I208F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005769
Gene: ENSMUSG00000005628
AA Change: I208F

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 damaging
Transcript: ENSMUST00000107227
AA Change: I208F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102846
Gene: ENSMUSG00000005628
AA Change: I208F

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: ENSMUST00000174859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196728
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174835
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149898
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173527
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174508
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
Predicted Effect probably benign
Transcript: ENSMUST00000173462
SMART Domains Protein: ENSMUSP00000133769
Gene: ENSMUSG00000092607

DomainStartEndE-ValueType
Blast:ZnF_C2H2 42 68 2e-7 BLAST
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1b7 A G 6: 34,392,313 (GRCm39) H42R possibly damaging Het
Ankrd26 T A 6: 118,525,838 (GRCm39) H369L probably benign Het
Ano7 T C 1: 93,323,081 (GRCm39) S474P probably damaging Het
Aox3 T C 1: 58,198,105 (GRCm39) V639A probably benign Het
Arhgef2 T A 3: 88,542,927 (GRCm39) V358E probably damaging Het
Brpf3 A G 17: 29,029,555 (GRCm39) Y505C probably damaging Het
Casd1 A G 6: 4,619,331 (GRCm39) T120A probably damaging Het
Ccdc121 A G 5: 31,645,399 (GRCm39) E384G probably damaging Het
Cd200l1 A G 16: 45,238,260 (GRCm39) S185P probably benign Het
Clasp1 T G 1: 118,347,547 (GRCm39) S32A probably benign Het
Clca3a2 A T 3: 144,796,469 (GRCm39) L246* probably null Het
Clcn7 A G 17: 25,370,702 (GRCm39) I353V possibly damaging Het
Cluap1 T A 16: 3,751,608 (GRCm39) D322E probably benign Het
Cmtm4 A C 8: 105,082,997 (GRCm39) probably null Het
Cntnap2 C T 6: 46,736,742 (GRCm39) P723S probably damaging Het
Col6a3 T A 1: 90,744,096 (GRCm39) T84S possibly damaging Het
Corin A G 5: 72,529,439 (GRCm39) probably null Het
Cubn G A 2: 13,354,687 (GRCm39) T1903I probably benign Het
Cyp27b1 A C 10: 126,886,279 (GRCm39) D320A probably damaging Het
Cyp2j6 G C 4: 96,424,323 (GRCm39) L145V probably damaging Het
Dennd2a T C 6: 39,462,554 (GRCm39) K652R probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dock1 T A 7: 134,760,251 (GRCm39) M1638K probably damaging Het
Efcab3 T C 11: 104,722,159 (GRCm39) S1924P probably benign Het
Eya1 T C 1: 14,373,096 (GRCm39) S8G probably damaging Het
Fam193a T A 5: 34,600,884 (GRCm39) probably null Het
Fbxw11 T A 11: 32,692,575 (GRCm39) N515K probably benign Het
Gm6408 T C 5: 146,420,582 (GRCm39) V154A possibly damaging Het
Guf1 A G 5: 69,719,059 (GRCm39) Y235C probably damaging Het
Hnrnpul2 C T 19: 8,800,596 (GRCm39) S224L possibly damaging Het
Igkv8-19 T A 6: 70,317,968 (GRCm39) D86V probably damaging Het
Iqcf1 A T 9: 106,379,174 (GRCm39) D61V probably damaging Het
Lrp5 T C 19: 3,678,427 (GRCm39) D476G probably damaging Het
Luzp1 A G 4: 136,270,578 (GRCm39) T934A probably benign Het
Mboat7 A T 7: 3,686,884 (GRCm39) Y319N probably benign Het
Mdn1 A G 4: 32,715,953 (GRCm39) E2045G probably damaging Het
Mfsd14b T C 13: 65,260,398 (GRCm39) R12G probably benign Het
Micall2 T A 5: 139,702,506 (GRCm39) T246S probably benign Het
Npepps A G 11: 97,132,830 (GRCm39) V299A probably damaging Het
Or2y11 T A 11: 49,443,120 (GRCm39) V182D probably damaging Het
P2ry13 A G 3: 59,117,328 (GRCm39) V150A probably benign Het
Pdc T C 1: 150,209,021 (GRCm39) I168T probably damaging Het
Pde8b C T 13: 95,223,316 (GRCm39) E313K probably benign Het
Pgap1 C T 1: 54,551,936 (GRCm39) G499R probably benign Het
Ppp1r15b T A 1: 133,060,261 (GRCm39) C259* probably null Het
Pramel21 T A 4: 143,342,828 (GRCm39) probably null Het
Ptgs1 A G 2: 36,141,131 (GRCm39) E526G probably damaging Het
Ptpn21 A G 12: 98,666,258 (GRCm39) L271P probably damaging Het
Rbm47 T C 5: 66,183,833 (GRCm39) T257A possibly damaging Het
Rfc3 C T 5: 151,570,985 (GRCm39) D104N probably damaging Het
Rhobtb3 A G 13: 76,058,808 (GRCm39) I330T probably benign Het
Rnf207 T C 4: 152,393,305 (GRCm39) T570A probably benign Het
Rusf1 A G 7: 127,896,632 (GRCm39) probably null Het
Sbpl T C 17: 24,172,466 (GRCm39) H151R probably damaging Het
Sstr3 T C 15: 78,423,661 (GRCm39) D362G probably benign Het
St7 T C 6: 17,694,363 (GRCm39) probably null Het
Tasor T A 14: 27,194,235 (GRCm39) M1145K probably benign Het
Tdrd6 A G 17: 43,939,788 (GRCm39) V420A probably damaging Het
Tet2 C A 3: 133,193,520 (GRCm39) E305* probably null Het
Tmem209 A T 6: 30,505,970 (GRCm39) V68E probably damaging Het
Tpo G A 12: 30,181,884 (GRCm39) L4F probably benign Het
Urb1 T C 16: 90,575,982 (GRCm39) H858R probably benign Het
Utrn A G 10: 12,615,200 (GRCm39) W324R probably damaging Het
V1rd19 T A 7: 23,702,640 (GRCm39) F35L possibly damaging Het
Vmn1r170 C A 7: 23,305,692 (GRCm39) N31K probably damaging Het
Vmn1r192 T A 13: 22,371,452 (GRCm39) Y256F probably damaging Het
Vmn2r124 T C 17: 18,294,019 (GRCm39) I702T possibly damaging Het
Vmn2r96 G A 17: 18,804,126 (GRCm39) A459T probably benign Het
Vwf G T 6: 125,543,109 (GRCm39) A132S probably damaging Het
Zfp202 G A 9: 40,118,638 (GRCm39) G17E probably damaging Het
Zfp608 A G 18: 55,028,700 (GRCm39) S1238P possibly damaging Het
Zfp804a G T 2: 82,087,486 (GRCm39) M438I probably damaging Het
Zgrf1 G A 3: 127,381,590 (GRCm39) G246S probably damaging Het
Zwint T C 10: 72,492,431 (GRCm39) V115A probably benign 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
R4211:Tmod4 UTSW 3 95,035,140 (GRCm39) missense probably benign 0.00
R6093:Tmod4 UTSW 3 95,032,929 (GRCm39) missense probably benign
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'- TGGTACAGCCTGACAAGTATAAG -3'
(R):5'- ACGTGACCCTTAAGACAGCC -3'

Sequencing Primer
(F):5'- GCCTGACAAGTATAAGCCAGTAC -3'
(R):5'- TTAAGACAGCCCTTGCCAGG -3'
Posted On 2017-10-10