Incidental Mutation 'R2920:Tmem107'
ID 255482
Institutional Source Beutler Lab
Gene Symbol Tmem107
Ensembl Gene ENSMUSG00000020895
Gene Name transmembrane protein 107
Synonyms 1110004B13Rik, 2810049P21Rik
MMRRC Submission 040505-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2920 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 68961635-68964119 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68962247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 68 (L68P)
Ref Sequence ENSEMBL: ENSMUSP00000091624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075980] [ENSMUST00000094081]
AlphaFold Q9CPV0
Predicted Effect probably damaging
Transcript: ENSMUST00000075980
AA Change: L68P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075363
Gene: ENSMUSG00000020895
AA Change: L68P

DomainStartEndE-ValueType
Pfam:TMEM107 7 130 2e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082965
Predicted Effect probably damaging
Transcript: ENSMUST00000094081
AA Change: L68P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091624
Gene: ENSMUSG00000020895
AA Change: L68P

DomainStartEndE-ValueType
Pfam:TMEM107 7 124 2.4e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117256
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123038
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123821
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125215
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128323
Meta Mutation Damage Score 0.8217 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 96% (48/50)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal lethality. Mice homozygous for an ENU induced allele exhibit preaxial polydactyly, exencephaly, microphthalmia, cleft palate, craniofacial defects, short sternum, split sternum and absent floor plate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A G 10: 10,265,987 (GRCm39) Y1025H probably damaging Het
Adgrv1 C T 13: 81,596,984 (GRCm39) A4122T probably benign Het
Aloxe3 C T 11: 69,033,749 (GRCm39) T621I probably damaging Het
Atp2b3 A C X: 72,577,526 (GRCm39) T318P probably benign Het
Atrx A T X: 104,874,474 (GRCm39) V1962D probably benign Het
Chl1 C A 6: 103,672,304 (GRCm39) T531K probably damaging Het
Clca3b T A 3: 144,543,614 (GRCm39) D405V probably benign Het
Clca3b C T 3: 144,552,692 (GRCm39) D115N probably benign Het
Comtd1 A G 14: 21,897,686 (GRCm39) L149P possibly damaging Het
Cops7a A G 6: 124,939,325 (GRCm39) V108A probably benign Het
Crebbp A G 16: 3,936,946 (GRCm39) V343A probably damaging Het
Edrf1 T A 7: 133,269,301 (GRCm39) D1109E probably benign Het
Elmo3 A G 8: 106,034,691 (GRCm39) E359G possibly damaging Het
Ep400 C A 5: 110,903,780 (GRCm39) G273V probably damaging Het
Fgfr3 A G 5: 33,891,284 (GRCm39) N516S probably damaging Het
Glb1l T A 1: 75,185,834 (GRCm39) E31D probably benign Het
Hdac1-ps A G 17: 78,800,275 (GRCm39) D422G probably damaging Het
Il12rb2 C T 6: 67,337,552 (GRCm39) V110I probably damaging Het
Ints3 T C 3: 90,300,469 (GRCm39) E884G probably benign Het
Lin7b A G 7: 45,017,821 (GRCm39) V170A possibly damaging Het
Lrch2 A T X: 146,256,026 (GRCm39) V750E probably damaging Het
Mepe C T 5: 104,486,113 (GRCm39) R418C probably damaging Het
Mettl25 A T 10: 105,601,038 (GRCm39) probably null Het
Mphosph9 G A 5: 124,399,069 (GRCm39) T982I probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myo10 G T 15: 25,801,226 (GRCm39) V1472L probably damaging Het
Myo9b A G 8: 71,778,501 (GRCm39) K445R probably damaging Het
Ntng2 T C 2: 29,094,223 (GRCm39) M383V probably benign Het
Or13n4 C T 7: 106,423,571 (GRCm39) R54Q probably benign Het
Or2z2 T C 11: 58,346,403 (GRCm39) Y124C probably damaging Het
Or7a37 A C 10: 78,805,846 (GRCm39) D121A probably damaging Het
Pak6 A T 2: 118,524,488 (GRCm39) probably benign Het
Pcdh8 G T 14: 80,006,154 (GRCm39) P803Q possibly damaging Het
Pfkfb3 C T 2: 11,489,138 (GRCm39) V286I probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rint1 A G 5: 24,010,400 (GRCm39) E203G probably benign Het
Sdf2 G C 11: 78,145,680 (GRCm39) V126L probably damaging Het
Slc13a5 T C 11: 72,138,617 (GRCm39) E442G possibly damaging Het
Slc14a2 G T 18: 78,201,512 (GRCm39) S669* probably null Het
Slc38a7 A G 8: 96,572,571 (GRCm39) I157T possibly damaging Het
Slc4a5 T C 6: 83,241,369 (GRCm39) L215P probably damaging Het
Tbc1d9 T C 8: 83,937,098 (GRCm39) V60A probably benign Het
Tcerg1l T C 7: 137,850,108 (GRCm39) R422G probably damaging Het
Ugt2b5 A G 5: 87,273,266 (GRCm39) F467L possibly damaging Het
Vmn1r19 A T 6: 57,381,909 (GRCm39) N154I probably benign Het
Vmn2r69 T A 7: 85,060,973 (GRCm39) I204L probably benign Het
Zbtb1 T A 12: 76,432,619 (GRCm39) S202T possibly damaging Het
Other mutations in Tmem107
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02567:Tmem107 APN 11 68,961,845 (GRCm39) missense possibly damaging 0.79
PIT4696001:Tmem107 UTSW 11 68,963,399 (GRCm39) missense probably benign
R0133:Tmem107 UTSW 11 68,963,239 (GRCm39) splice site probably benign
R1537:Tmem107 UTSW 11 68,963,284 (GRCm39) missense probably damaging 0.99
R2210:Tmem107 UTSW 11 68,962,096 (GRCm39) missense possibly damaging 0.89
R2919:Tmem107 UTSW 11 68,962,247 (GRCm39) missense probably damaging 1.00
R3974:Tmem107 UTSW 11 68,962,301 (GRCm39) critical splice donor site probably null
R4326:Tmem107 UTSW 11 68,962,301 (GRCm39) critical splice donor site probably null
R4327:Tmem107 UTSW 11 68,962,301 (GRCm39) critical splice donor site probably null
R4328:Tmem107 UTSW 11 68,962,301 (GRCm39) critical splice donor site probably null
R4599:Tmem107 UTSW 11 68,962,274 (GRCm39) missense probably damaging 1.00
R4962:Tmem107 UTSW 11 68,962,087 (GRCm39) missense possibly damaging 0.89
R6218:Tmem107 UTSW 11 68,962,241 (GRCm39) missense probably damaging 1.00
R6755:Tmem107 UTSW 11 68,961,837 (GRCm39) missense probably damaging 0.98
R7575:Tmem107 UTSW 11 68,963,633 (GRCm39) missense probably benign 0.27
R8271:Tmem107 UTSW 11 68,962,281 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CTCTCAAATTCACCCCGGAG -3'
(R):5'- GCTCACATCCGGATTTAACGAATG -3'

Sequencing Primer
(F):5'- GGAATACGAAAAGCAGGACAACC -3'
(R):5'- CCGGATTTAACGAATGTTTGAAGTC -3'
Posted On 2014-12-29