Incidental Mutation 'IGL02567:Tmem107'
List |< first << previous [record 41 of 48] next >> last >|
ID298844
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem107
Ensembl Gene ENSMUSG00000020895
Gene Nametransmembrane protein 107
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02567
Quality Score
Status
Chromosome11
Chromosomal Location69070806-69073293 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 69071019 bp
ZygosityHeterozygous
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]
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: ENSMUST00000128323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152142
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: 53,372,751 S199R possibly damaging Het
Ano1 A G 7: 144,611,625 L621P probably damaging Het
Calcr C T 6: 3,691,564 V404M probably damaging Het
Carmil3 A G 14: 55,498,882 S635G possibly damaging Het
Ccl12 C A 11: 82,102,621 S28R possibly damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdhr3 T C 12: 33,038,901 N761D probably benign Het
Col14a1 T C 15: 55,344,961 probably null Het
Col28a1 T C 6: 8,014,819 K862R possibly damaging Het
Cyp2c66 C T 19: 39,186,640 probably benign Het
D5Ertd615e T C 5: 45,163,416 noncoding transcript Het
Deup1 T C 9: 15,575,283 E367G probably damaging Het
Dpp8 T G 9: 65,078,776 Y849* probably null Het
Efhc1 T A 1: 20,972,964 V369E probably damaging Het
Epg5 A G 18: 78,033,073 Y2562C probably damaging Het
Fam189a1 T A 7: 64,786,731 M101L possibly damaging Het
Fbln5 A G 12: 101,761,800 probably null Het
Frem1 A T 4: 83,000,055 M551K probably damaging Het
Gba2 T C 4: 43,567,281 S889G probably benign Het
Golph3 C T 15: 12,349,421 R176* probably null Het
Got2 A T 8: 95,872,201 F191Y probably benign Het
Gtf2ird2 G T 5: 134,213,048 probably benign Het
Hist4h4 G A 6: 136,804,274 R36W probably damaging Het
Hivep3 A G 4: 120,133,956 T2218A probably damaging Het
Htr1f C T 16: 64,926,248 G227D probably benign Het
Ifi202b C T 1: 173,963,804 S436N possibly damaging Het
Nf1 T A 11: 79,547,143 V2109D probably damaging Het
Opa1 C A 16: 29,588,286 D29E probably benign Het
Papln C T 12: 83,778,837 P631S probably benign Het
Pde4c T A 8: 70,747,921 M352K probably benign Het
Pigu T C 2: 155,331,192 T129A possibly damaging Het
Pla2g4c T A 7: 13,346,040 H424Q probably damaging Het
Ptpn13 T G 5: 103,562,291 L1564R probably damaging Het
Rbm5 T C 9: 107,744,274 D642G probably damaging Het
Rnf111 T C 9: 70,459,005 T384A probably damaging Het
Scn11a T C 9: 119,804,489 T393A probably damaging Het
Sned1 A T 1: 93,274,347 K619M probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Syt9 A G 7: 107,436,661 Y295C probably damaging Het
Taar7f T A 10: 24,050,425 Y306N probably damaging Het
Wdr24 T G 17: 25,824,348 I48S probably damaging Het
Zc3hc1 T C 6: 30,374,849 D231G probably benign Het
Zfp142 T A 1: 74,578,147 S342C possibly damaging Het
Zfp142 T G 1: 74,578,149 K341T possibly damaging Het
Zfp142 T C 1: 74,578,150 K341E possibly damaging Het
Zfp804b T A 5: 6,769,989 I989L probably benign Het
Zfyve9 A C 4: 108,674,523 V1095G probably damaging Het
Other mutations in Tmem107
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4696001:Tmem107 UTSW 11 69072573 missense probably benign
R0133:Tmem107 UTSW 11 69072413 splice site probably benign
R1537:Tmem107 UTSW 11 69072458 missense probably damaging 0.99
R2210:Tmem107 UTSW 11 69071270 missense possibly damaging 0.89
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
R7575:Tmem107 UTSW 11 69072807 missense probably benign 0.27
Posted On2015-04-16