Incidental Mutation 'R4367:Tefm'
ID 325823
Institutional Source Beutler Lab
Gene Symbol Tefm
Ensembl Gene ENSMUSG00000046909
Gene Name transcription elongation factor, mitochondrial
Synonyms FLJ22729, 1110002N22Rik
MMRRC Submission 041673-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R4367 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 80027504-80033001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 80031156 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 27 (L27I)
Ref Sequence ENSEMBL: ENSMUSP00000114770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017694] [ENSMUST00000050207] [ENSMUST00000108239] [ENSMUST00000131601]
AlphaFold Q5SSK3
Predicted Effect probably benign
Transcript: ENSMUST00000017694
SMART Domains Protein: ENSMUSP00000017694
Gene: ENSMUSG00000017550

DomainStartEndE-ValueType
low complexity region 298 311 N/A INTRINSIC
low complexity region 327 342 N/A INTRINSIC
low complexity region 467 486 N/A INTRINSIC
coiled coil region 665 697 N/A INTRINSIC
low complexity region 798 807 N/A INTRINSIC
AAA 1111 1347 5.14e-5 SMART
Blast:AAA 1409 1526 1e-31 BLAST
low complexity region 1573 1583 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000050207
SMART Domains Protein: ENSMUSP00000059304
Gene: ENSMUSG00000046909

DomainStartEndE-ValueType
Pfam:HHH_3 78 136 1.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108239
SMART Domains Protein: ENSMUSP00000103874
Gene: ENSMUSG00000017550

DomainStartEndE-ValueType
low complexity region 298 311 N/A INTRINSIC
low complexity region 327 342 N/A INTRINSIC
low complexity region 467 486 N/A INTRINSIC
coiled coil region 665 697 N/A INTRINSIC
low complexity region 798 807 N/A INTRINSIC
AAA 1108 1344 5.14e-5 SMART
Blast:AAA 1406 1523 1e-31 BLAST
low complexity region 1570 1580 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131601
AA Change: L27I

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000114770
Gene: ENSMUSG00000046909
AA Change: L27I

DomainStartEndE-ValueType
Pfam:HHH_3 88 147 1.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136996
SMART Domains Protein: ENSMUSP00000122596
Gene: ENSMUSG00000046909

DomainStartEndE-ValueType
low complexity region 27 42 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151815
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb2 T C 18: 62,312,127 (GRCm39) I233V probably damaging Het
Alox5 T A 6: 116,437,924 (GRCm39) Y21F possibly damaging Het
Ank2 T C 3: 126,739,798 (GRCm39) T1942A probably benign Het
Aoc1l1 T C 6: 48,953,064 (GRCm39) S330P probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bckdk C T 7: 127,505,591 (GRCm39) A238V probably benign Het
Casp1 A G 9: 5,299,333 (GRCm39) T21A probably benign Het
Ccdc39 T C 3: 33,880,671 (GRCm39) H432R probably benign Het
Cttnbp2 A C 6: 18,405,248 (GRCm39) C574G probably damaging Het
Cyp1a1 T C 9: 57,607,432 (GRCm39) V20A probably benign Het
Dhx38 C T 8: 110,279,763 (GRCm39) V976I probably damaging Het
Dnah6 A G 6: 73,126,467 (GRCm39) S1287P possibly damaging Het
Dnttip2 T C 3: 122,070,146 (GRCm39) S454P probably damaging Het
Drp2 A T X: 133,335,884 (GRCm39) probably benign Het
Flcn C T 11: 59,694,610 (GRCm39) V121I possibly damaging Het
Fmo1 G C 1: 162,661,217 (GRCm39) Y355* probably null Het
Git2 T A 5: 114,902,727 (GRCm39) H138L probably damaging Het
Gpr162 G A 6: 124,838,658 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnt1 T C 2: 25,797,638 (GRCm39) I881T probably damaging Het
Lama3 T A 18: 12,646,747 (GRCm39) C1754S probably damaging Het
Mpp3 A T 11: 101,914,246 (GRCm39) D116E probably benign Het
Myh11 T C 16: 14,036,747 (GRCm39) D985G probably damaging Het
Necap1 T C 6: 122,864,337 (GRCm39) V273A probably damaging Het
Nlrc5 T C 8: 95,203,192 (GRCm39) S431P probably damaging Het
Nutm2 A T 13: 50,623,920 (GRCm39) T206S probably benign Het
Or2d3 GAACAACAACAA GAACAACAA 7: 106,490,567 (GRCm39) probably benign Het
Or5p79 C T 7: 108,221,096 (GRCm39) L26F probably benign Het
Or8g19 G A 9: 39,055,725 (GRCm39) A110T probably damaging Het
Phactr2 A G 10: 13,129,564 (GRCm39) S235P probably damaging Het
Podnl1 G A 8: 84,853,897 (GRCm39) R89H probably benign Het
Prpf38b T C 3: 108,818,487 (GRCm39) Y91C probably damaging Het
Radil C T 5: 142,480,560 (GRCm39) A632T probably benign Het
Rpap2 G A 5: 107,749,661 (GRCm39) V62I possibly damaging Het
Sdf2 C T 11: 78,141,863 (GRCm39) T66I probably damaging Het
Specc1 T C 11: 62,009,356 (GRCm39) S371P probably damaging Het
Suco T C 1: 161,674,799 (GRCm39) E416G probably damaging Het
Sys1 T C 2: 164,303,315 (GRCm39) W10R probably damaging Het
Tars3 C T 7: 65,332,567 (GRCm39) T556M probably damaging Het
Tcirg1 C T 19: 3,949,069 (GRCm39) D407N probably damaging Het
Tenm2 A G 11: 35,918,225 (GRCm39) I1845T probably benign Het
Tfam A T 10: 71,069,233 (GRCm39) I119N probably damaging Het
Tle1 ACAGGTTTCTTCAGGTTTCTT ACAGGTTTCTT 4: 72,036,400 (GRCm39) probably benign Het
Trpm6 T C 19: 18,804,889 (GRCm39) I947T probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Usp54 T C 14: 20,611,202 (GRCm39) T1205A probably benign Het
Vmn2r25 T C 6: 123,805,496 (GRCm39) R454G probably damaging Het
Xylb T C 9: 119,217,781 (GRCm39) V477A probably benign Het
Other mutations in Tefm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01356:Tefm APN 11 80,028,823 (GRCm39) nonsense probably null
IGL02164:Tefm APN 11 80,030,915 (GRCm39) missense probably damaging 1.00
IGL02686:Tefm APN 11 80,027,722 (GRCm39) missense probably damaging 1.00
R2037:Tefm UTSW 11 80,031,056 (GRCm39) missense probably damaging 0.96
R4255:Tefm UTSW 11 80,031,075 (GRCm39) missense probably damaging 1.00
R4461:Tefm UTSW 11 80,028,875 (GRCm39) splice site probably null
R4727:Tefm UTSW 11 80,031,279 (GRCm39) unclassified probably benign
R4839:Tefm UTSW 11 80,027,947 (GRCm39) missense probably benign 0.19
R4888:Tefm UTSW 11 80,031,185 (GRCm39) missense possibly damaging 0.59
R5894:Tefm UTSW 11 80,031,057 (GRCm39) missense probably damaging 0.96
R6266:Tefm UTSW 11 80,028,814 (GRCm39) missense probably damaging 1.00
R6547:Tefm UTSW 11 80,031,210 (GRCm39) splice site probably null
R8222:Tefm UTSW 11 80,031,230 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GGAGAAGAGCCTGTCCAATG -3'
(R):5'- CTCTGTGTAGTACTGGCTATCCTGG -3'

Sequencing Primer
(F):5'- AGAGCCTGTCCAATGGATTC -3'
(R):5'- TATGAAGTCAAGGCCATCCTGGTC -3'
Posted On 2015-07-06