Incidental Mutation 'R2210:Tmem107'
ID239326
Institutional Source Beutler Lab
Gene Symbol Tmem107
Ensembl Gene ENSMUSG00000020895
Gene Nametransmembrane protein 107
Synonyms
MMRRC Submission 040212-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R2210 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location69070806-69073293 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 69071270 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 45 (E45G)
Ref Sequence ENSEMBL: ENSMUSP00000091624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075980] [ENSMUST00000094081]
Predicted Effect possibly damaging
Transcript: ENSMUST00000075980
AA Change: E45G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075363
Gene: ENSMUSG00000020895
AA Change: E45G

DomainStartEndE-ValueType
Pfam:TMEM107 7 130 2e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082965
Predicted Effect possibly damaging
Transcript: ENSMUST00000094081
AA Change: E45G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091624
Gene: ENSMUSG00000020895
AA Change: E45G

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: ENSMUST00000125215
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158162
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016L21Rik C G 5: 114,942,289 R28G probably damaging Het
Adgrb1 C T 15: 74,547,704 A798V probably damaging Het
Ash1l G T 3: 89,066,298 D2555Y probably damaging Het
Atr G A 9: 95,907,300 R1503Q probably damaging Het
Cbln3 T A 14: 55,883,926 I88F possibly damaging Het
Cct7 G A 6: 85,459,230 G41D probably damaging Het
Cd1d2 G T 3: 86,987,734 A138S possibly damaging Het
Dct T C 14: 118,043,149 I152V probably benign Het
Dgkq C A 5: 108,660,523 R58L probably damaging Het
Emc10 G A 7: 44,493,192 R109W probably damaging Het
Gm4884 A T 7: 41,043,546 E313V possibly damaging Het
Hectd1 A T 12: 51,806,462 I92K probably damaging Het
Icam1 A G 9: 21,019,033 E61G probably damaging Het
Itgb2l C T 16: 96,426,221 V541M possibly damaging Het
Lmtk2 A G 5: 144,147,609 E154G probably damaging Het
Majin C A 19: 6,222,698 H223N possibly damaging Het
Mc4r A T 18: 66,859,395 F216I probably damaging Het
Mettl7b T A 10: 128,958,722 K244N probably damaging Het
Muc4 AG AGG 16: 32,755,176 probably null Het
Obscn A T 11: 59,068,087 V3379D probably damaging Het
Olfr948 A T 9: 39,318,793 S274T probably damaging Het
Pde4b A T 4: 102,597,475 N346I probably damaging Het
Pitpnm1 T C 19: 4,105,253 S331P probably damaging Het
Plcb2 T A 2: 118,717,503 I437F probably damaging Het
Pramef17 T A 4: 143,994,219 M51L probably benign Het
Prr12 A G 7: 45,049,351 probably benign Het
Pus7l T G 15: 94,540,292 D224A possibly damaging Het
Sh3pxd2a A G 19: 47,267,343 S1007P possibly damaging Het
Stac G A 9: 111,602,570 P238S probably damaging Het
Triml2 T C 8: 43,183,360 Y61H probably damaging Het
Uba2 T C 7: 34,163,162 D95G probably damaging Het
Ube2d3 T A 3: 135,463,041 D132E probably benign Het
Unc5d A G 8: 28,761,797 I216T probably damaging Het
Other mutations in Tmem107
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02567:Tmem107 APN 11 69071019 missense possibly damaging 0.79
R0133:Tmem107 UTSW 11 69072413 splice site probably benign
R1537:Tmem107 UTSW 11 69072458 missense probably damaging 0.99
R2919:Tmem107 UTSW 11 69071421 missense probably damaging 1.00
R2920:Tmem107 UTSW 11 69071421 missense probably damaging 1.00
R3974:Tmem107 UTSW 11 69071475 critical splice donor site probably null
R4326:Tmem107 UTSW 11 69071475 critical splice donor site probably null
R4327:Tmem107 UTSW 11 69071475 critical splice donor site probably null
R4328:Tmem107 UTSW 11 69071475 critical splice donor site probably null
R4599:Tmem107 UTSW 11 69071448 missense probably damaging 1.00
R4962:Tmem107 UTSW 11 69071261 missense possibly damaging 0.89
R6218:Tmem107 UTSW 11 69071415 missense probably damaging 1.00
R6755:Tmem107 UTSW 11 69071011 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TCTCATCTTGGAGTGGACCC -3'
(R):5'- ATGAGTCACCTGAGGACGATG -3'

Sequencing Primer
(F):5'- ATCTTGGAGTGGACCCAGCTC -3'
(R):5'- GTGCTATTGAACATGGAGACTCC -3'
Posted On2014-10-15