Incidental Mutation 'R6551:Tamm41'
Institutional Source Beutler Lab
Gene Symbol Tamm41
Ensembl Gene ENSMUSG00000030316
Gene NameTAM41 mitochondrial translocator assembly and maintenance homolog
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.948) question?
Stock #R6551 (G1)
Quality Score225.009
Status Validated
Chromosomal Location115004381-115037876 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 115012181 bp
Amino Acid Change Aspartic acid to Glycine at position 284 (D284G)
Ref Sequence ENSEMBL: ENSMUSP00000032461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032461] [ENSMUST00000154621] [ENSMUST00000172495] [ENSMUST00000174848]
Predicted Effect possibly damaging
Transcript: ENSMUST00000032461
AA Change: D284G

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032461
Gene: ENSMUSG00000030316
AA Change: D284G

Pfam:Mmp37 13 327 9.9e-115 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137654
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144969
Predicted Effect probably benign
Transcript: ENSMUST00000154621
SMART Domains Protein: ENSMUSP00000116995
Gene: ENSMUSG00000030316

Pfam:Mmp37 12 109 8.6e-40 PFAM
low complexity region 130 148 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172495
SMART Domains Protein: ENSMUSP00000134105
Gene: ENSMUSG00000030316

Pfam:Mmp37 1 124 2.4e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174848
SMART Domains Protein: ENSMUSP00000133340
Gene: ENSMUSG00000030316

Pfam:Mmp37 12 188 3.2e-79 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 100% (41/41)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A T 1: 193,174,523 Q61L probably damaging Het
Acss2 T C 2: 155,551,208 S285P probably benign Het
Ager A G 17: 34,599,468 probably null Het
Alkbh7 T A 17: 56,998,945 Y115* probably null Het
Brwd1 T C 16: 95,993,962 D2184G possibly damaging Het
Chp1 T A 2: 119,571,813 H89Q possibly damaging Het
Clmp T C 9: 40,771,277 V119A probably benign Het
Cryge A T 1: 65,048,637 M171K probably benign Het
Cttnbp2nl A T 3: 105,005,117 S484T possibly damaging Het
Dsg3 C A 18: 20,539,911 P880T unknown Het
Eml2 G A 7: 19,201,163 V432I probably damaging Het
Espn T C 4: 152,128,766 Het
Fbxo31 A C 8: 121,564,704 probably benign Het
Grin2b A G 6: 135,733,344 V1068A probably damaging Het
Jak1 C A 4: 101,193,843 probably benign Het
Klra10 A T 6: 130,275,755 D185E probably benign Het
Lhx1 A C 11: 84,521,913 D60E probably benign Het
Lyar C A 5: 38,233,272 A326D probably damaging Het
Muc16 A C 9: 18,562,562 S1280A possibly damaging Het
Nol9 G A 4: 152,051,868 V466I possibly damaging Het
Olfr107 G A 17: 37,405,905 R119H probably benign Het
Olfr1120 T C 2: 87,846,661 V130A possibly damaging Het
Olfr1380 G T 11: 49,563,989 V23L probably benign Het
Olfr23 T C 11: 73,940,303 I19T probably benign Het
Olfr317 A T 11: 58,732,757 M136K probably damaging Het
Olfr959 C A 9: 39,572,560 R233L probably benign Het
Pik3c2a A T 7: 116,417,496 I342N probably damaging Het
Pnldc1 A G 17: 12,905,569 M133T probably damaging Het
Rab11fip1 G A 8: 27,156,484 S188L probably damaging Het
Rapgef2 A T 3: 79,215,035 probably null Het
Rnf103 G A 6: 71,510,365 C660Y probably damaging Het
Rph3al G A 11: 75,906,546 S108F possibly damaging Het
Srsf7 A C 17: 80,204,219 probably benign Het
Ssrp1 A G 2: 85,041,106 probably null Het
Tmem161b C A 13: 84,222,418 probably benign Het
Tmem39b A G 4: 129,692,103 V25A probably benign Het
Tmem88b G T 4: 155,785,692 probably benign Het
Unk T C 11: 116,050,724 W266R probably damaging Het
Usp8 T A 2: 126,733,182 probably benign Het
Zbtb48 T G 4: 152,022,221 Q142P probably benign Het
Zdhhc18 T C 4: 133,613,649 T267A probably benign Het
Zfp335 G A 2: 164,909,365 P94S probably benign Het
Other mutations in Tamm41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Tamm41 APN 6 115016098 missense probably benign 0.00
R0101:Tamm41 UTSW 6 115032246 missense probably damaging 1.00
R2045:Tamm41 UTSW 6 115016095 missense probably benign 0.07
R4207:Tamm41 UTSW 6 115012359 intron probably benign
R4208:Tamm41 UTSW 6 115012359 intron probably benign
R4627:Tamm41 UTSW 6 115035002 missense probably benign 0.18
R4820:Tamm41 UTSW 6 115025417 missense possibly damaging 0.94
R7727:Tamm41 UTSW 6 115016178 missense probably damaging 1.00
X0058:Tamm41 UTSW 6 115035021 missense possibly damaging 0.55
Predicted Primers PCR Primer

Sequencing Primer
Posted On2018-06-06