Incidental Mutation 'IGL01801:Mtmr12'
ID155526
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtmr12
Ensembl Gene ENSMUSG00000039458
Gene Namemyotubularin related protein 12
SynonymsPip3ap, C730015A02Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01801
Quality Score
Status
Chromosome15
Chromosomal Location12205028-12274496 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 12269959 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 711 (L711P)
Ref Sequence ENSEMBL: ENSMUSP00000041227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038172] [ENSMUST00000071993] [ENSMUST00000174160] [ENSMUST00000174418]
Predicted Effect probably damaging
Transcript: ENSMUST00000038172
AA Change: L711P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041227
Gene: ENSMUSG00000039458
AA Change: L711P

DomainStartEndE-ValueType
low complexity region 3 12 N/A INTRINSIC
low complexity region 33 42 N/A INTRINSIC
Pfam:Myotub-related 182 501 7.6e-55 PFAM
Pfam:3-PAP 559 687 3.2e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000071993
AA Change: L401P

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000071883
Gene: ENSMUSG00000039458
AA Change: L401P

DomainStartEndE-ValueType
low complexity region 3 12 N/A INTRINSIC
Pfam:Myotub-related 17 193 7.8e-53 PFAM
Pfam:3-PAP 249 380 8.8e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174160
SMART Domains Protein: ENSMUSP00000134293
Gene: ENSMUSG00000039458

DomainStartEndE-ValueType
low complexity region 3 12 N/A INTRINSIC
low complexity region 33 42 N/A INTRINSIC
Pfam:Myotub-related 182 501 3.2e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174418
SMART Domains Protein: ENSMUSP00000133285
Gene: ENSMUSG00000039458

DomainStartEndE-ValueType
low complexity region 3 12 N/A INTRINSIC
low complexity region 33 42 N/A INTRINSIC
Meta Mutation Damage Score 0.1303 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415M13Rik C T 17: 53,724,842 noncoding transcript Het
Acsm4 C T 7: 119,707,263 T308I possibly damaging Het
Adamtsl1 A G 4: 86,199,322 N174S probably benign Het
Atp1b1 C T 1: 164,438,349 G281D probably damaging Het
Cacna1e T C 1: 154,471,340 N1027S probably null Het
Cacnb4 A T 2: 52,434,711 N446K probably benign Het
Ccdc173 A T 2: 69,776,279 probably benign Het
Col13a1 T C 10: 61,843,614 D215G probably damaging Het
Cyp2d22 T C 15: 82,372,845 T312A probably benign Het
Cyp4f40 A T 17: 32,676,305 N467I probably damaging Het
Ehd4 A T 2: 120,102,341 D201E probably damaging Het
Farsb T C 1: 78,458,579 T444A probably benign Het
Gabra6 A C 11: 42,315,108 I307R probably damaging Het
Impg2 G A 16: 56,236,748 R287H probably damaging Het
Khdrbs1 A G 4: 129,741,781 V127A probably benign Het
Lcp1 A T 14: 75,199,375 T54S probably benign Het
Mrgpra6 T C 7: 47,185,824 D283G possibly damaging Het
Mterf4 T C 1: 93,304,920 R70G probably benign Het
Olfr732 A G 14: 50,282,208 I15T probably benign Het
Pax8 A G 2: 24,444,564 probably null Het
Prmt9 T C 8: 77,562,440 V257A probably damaging Het
Sspo T C 6: 48,457,138 V959A probably damaging Het
Vps54 T C 11: 21,275,131 probably null Het
Wdr70 C T 15: 7,887,324 probably null Het
Wdr92 T C 11: 17,219,015 I62T probably benign Het
Other mutations in Mtmr12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02158:Mtmr12 APN 15 12237930 missense probably damaging 1.00
pius UTSW 15 12245011 missense probably damaging 1.00
R0281:Mtmr12 UTSW 15 12257706 nonsense probably null
R1739:Mtmr12 UTSW 15 12245019 missense probably benign 0.06
R1876:Mtmr12 UTSW 15 12257630 missense probably damaging 1.00
R2284:Mtmr12 UTSW 15 12245011 missense probably damaging 1.00
R4301:Mtmr12 UTSW 15 12236020 missense possibly damaging 0.95
R4424:Mtmr12 UTSW 15 12230314 missense probably damaging 0.98
R4617:Mtmr12 UTSW 15 12270046 missense probably damaging 1.00
R5418:Mtmr12 UTSW 15 12269959 missense probably damaging 1.00
R6316:Mtmr12 UTSW 15 12236113 missense probably null 0.31
R6857:Mtmr12 UTSW 15 12263832 missense probably damaging 1.00
R7068:Mtmr12 UTSW 15 12257670 missense probably null 0.08
R7511:Mtmr12 UTSW 15 12265595 missense possibly damaging 0.94
R7515:Mtmr12 UTSW 15 12269951 missense probably damaging 1.00
R7607:Mtmr12 UTSW 15 12257708 nonsense probably null
R7709:Mtmr12 UTSW 15 12245011 missense probably damaging 1.00
R8217:Mtmr12 UTSW 15 12259640 missense possibly damaging 0.89
R8257:Mtmr12 UTSW 15 12259598 missense possibly damaging 0.89
R8398:Mtmr12 UTSW 15 12265609 missense probably damaging 1.00
R8778:Mtmr12 UTSW 15 12269920 missense probably benign 0.00
RF013:Mtmr12 UTSW 15 12261898 missense probably damaging 0.97
Posted On2014-02-04