Incidental Mutation 'IGL02567:Tmem107'
ID 298844
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem107
Ensembl Gene ENSMUSG00000020895
Gene Name transmembrane protein 107
Synonyms 1110004B13Rik, 2810049P21Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02567
Quality Score
Status
Chromosome 11
Chromosomal Location 68961635-68964119 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 68961845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 25 (L25V)
Ref Sequence ENSEMBL: ENSMUSP00000091624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075980] [ENSMUST00000094081]
AlphaFold Q9CPV0
Predicted Effect possibly damaging
Transcript: ENSMUST00000075980
AA Change: L25V

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000075363
Gene: ENSMUSG00000020895
AA Change: L25V

DomainStartEndE-ValueType
Pfam:TMEM107 7 130 2e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082965
Predicted Effect possibly damaging
Transcript: ENSMUST00000094081
AA Change: L25V

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000091624
Gene: ENSMUSG00000020895
AA Change: L25V

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: ENSMUST00000152142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158162
Coding Region Coverage
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 C A 11: 53,263,578 (GRCm39) S199R possibly damaging Het
Ano1 A G 7: 144,165,362 (GRCm39) L621P probably damaging Het
Calcr C T 6: 3,691,564 (GRCm39) V404M probably damaging Het
Carmil3 A G 14: 55,736,339 (GRCm39) S635G possibly damaging Het
Ccl12 C A 11: 81,993,447 (GRCm39) S28R possibly damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdhr3 T C 12: 33,088,900 (GRCm39) N761D probably benign Het
Col14a1 T C 15: 55,208,357 (GRCm39) probably null Het
Col28a1 T C 6: 8,014,819 (GRCm39) K862R possibly damaging Het
Cyp2c66 C T 19: 39,175,084 (GRCm39) probably benign Het
D5Ertd615e T C 5: 45,320,758 (GRCm39) noncoding transcript Het
Deup1 T C 9: 15,486,579 (GRCm39) E367G probably damaging Het
Dpp8 T G 9: 64,986,058 (GRCm39) Y849* probably null Het
Efhc1 T A 1: 21,043,188 (GRCm39) V369E probably damaging Het
Entrep2 T A 7: 64,436,479 (GRCm39) M101L possibly damaging Het
Epg5 A G 18: 78,076,288 (GRCm39) Y2562C probably damaging Het
Fbln5 A G 12: 101,728,059 (GRCm39) probably null Het
Frem1 A T 4: 82,918,292 (GRCm39) M551K probably damaging Het
Gba2 T C 4: 43,567,281 (GRCm39) S889G probably benign Het
Golph3 C T 15: 12,349,507 (GRCm39) R176* probably null Het
Got2 A T 8: 96,598,829 (GRCm39) F191Y probably benign Het
Gtf2ird2 G T 5: 134,241,890 (GRCm39) probably benign Het
H4c16 G A 6: 136,781,272 (GRCm39) R36W probably damaging Het
Hivep3 A G 4: 119,991,153 (GRCm39) T2218A probably damaging Het
Htr1f C T 16: 64,746,611 (GRCm39) G227D probably benign Het
Ifi202b C T 1: 173,791,370 (GRCm39) S436N possibly damaging Het
Nf1 T A 11: 79,437,969 (GRCm39) V2109D probably damaging Het
Opa1 C A 16: 29,407,104 (GRCm39) D29E probably benign Het
Papln C T 12: 83,825,611 (GRCm39) P631S probably benign Het
Pde4c T A 8: 71,200,570 (GRCm39) M352K probably benign Het
Pigu T C 2: 155,173,112 (GRCm39) T129A possibly damaging Het
Pla2g4c T A 7: 13,079,965 (GRCm39) H424Q probably damaging Het
Ptpn13 T G 5: 103,710,157 (GRCm39) L1564R probably damaging Het
Rbm5 T C 9: 107,621,473 (GRCm39) D642G probably damaging Het
Rnf111 T C 9: 70,366,287 (GRCm39) T384A probably damaging Het
Scn11a T C 9: 119,633,555 (GRCm39) T393A probably damaging Het
Sned1 A T 1: 93,202,069 (GRCm39) K619M probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Syt9 A G 7: 107,035,868 (GRCm39) Y295C probably damaging Het
Taar7f T A 10: 23,926,323 (GRCm39) Y306N probably damaging Het
Wdr24 T G 17: 26,043,322 (GRCm39) I48S probably damaging Het
Zc3hc1 T C 6: 30,374,848 (GRCm39) D231G probably benign Het
Zfp142 T C 1: 74,617,309 (GRCm39) K341E possibly damaging Het
Zfp142 T A 1: 74,617,306 (GRCm39) S342C possibly damaging Het
Zfp142 T G 1: 74,617,308 (GRCm39) K341T possibly damaging Het
Zfp804b T A 5: 6,819,989 (GRCm39) I989L probably benign Het
Zfyve9 A C 4: 108,531,720 (GRCm39) V1095G probably damaging Het
Other mutations in Tmem107
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R2920: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
Posted On 2015-04-16