Incidental Mutation 'IGL02625:Tmtc2'
ID301050
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmtc2
Ensembl Gene ENSMUSG00000036019
Gene Nametransmembrane and tetratricopeptide repeat containing 2
SynonymsD330034A10Rik, 8430438D04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.154) question?
Stock #IGL02625
Quality Score
Status
Chromosome10
Chromosomal Location105187663-105574451 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105370546 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 296 (M296T)
Ref Sequence ENSEMBL: ENSMUSP00000061919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061506]
Predicted Effect probably damaging
Transcript: ENSMUST00000061506
AA Change: M296T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061919
Gene: ENSMUSG00000036019
AA Change: M296T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
transmembrane domain 223 245 N/A INTRINSIC
Pfam:DUF1736 247 321 7.3e-33 PFAM
transmembrane domain 393 415 N/A INTRINSIC
transmembrane domain 425 444 N/A INTRINSIC
TPR 493 526 1.6e-3 SMART
TPR 527 560 6.84e-3 SMART
TPR 561 594 2.52e-1 SMART
TPR 606 639 3.12e-6 SMART
TPR 643 676 3.99e1 SMART
TPR 677 710 7.12e-1 SMART
low complexity region 729 739 N/A INTRINSIC
TPR 745 778 1.51e1 SMART
TPR 779 812 1.43e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143691
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg6 T A 4: 99,746,347 C109S probably damaging Het
Arhgdia C A 11: 120,580,213 E53D probably benign Het
Ccr4 A C 9: 114,492,333 C221W probably damaging Het
Ces2a G A 8: 104,740,278 probably null Het
Chpf2 G T 5: 24,591,711 E552* probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnmt1 C T 9: 20,927,146 R207H probably benign Het
Dock2 A G 11: 34,501,168 probably null Het
Esr1 A T 10: 5,001,346 T575S probably benign Het
Fancc A G 13: 63,398,151 C93R probably damaging Het
Foxj3 A T 4: 119,624,917 R523W unknown Het
Fryl C T 5: 73,069,877 probably benign Het
Fsip2 A C 2: 82,949,492 H194P probably benign Het
Gaa G A 11: 119,274,733 V350I probably damaging Het
Gpn3 T A 5: 122,381,194 I152N probably damaging Het
H2-M10.3 T A 17: 36,367,525 H136L probably benign Het
Hist4h4 C T 6: 136,804,337 probably benign Het
Hspg2 A G 4: 137,512,642 D507G probably damaging Het
Jcad A G 18: 4,674,422 E728G probably benign Het
Kat14 G A 2: 144,402,445 R406H possibly damaging Het
Kcnma1 G T 14: 23,363,832 D863E probably damaging Het
Lrp1 A G 10: 127,574,486 Y1464H probably damaging Het
Map4 T C 9: 110,064,417 S584P probably damaging Het
Nlrp4f G A 13: 65,199,271 L58F probably damaging Het
Nlrp6 A G 7: 140,923,500 I506M probably benign Het
Nudt17 G A 3: 96,706,464 R266W probably damaging Het
Olfr1241 A G 2: 89,482,674 S154P probably damaging Het
Olfr1256 A G 2: 89,835,396 L183P probably damaging Het
Olfr651 A G 7: 104,553,573 Y218C probably damaging Het
Plcb4 A G 2: 135,961,794 E529G probably benign Het
Prss32 A T 17: 23,856,236 I187F possibly damaging Het
Prss55 A T 14: 64,079,369 I108K probably damaging Het
Rcl1 A G 19: 29,118,341 M109V probably benign Het
Rho A T 6: 115,935,197 M207L possibly damaging Het
Slc12a1 A G 2: 125,170,691 D291G probably damaging Het
Slco2b1 A C 7: 99,660,123 probably null Het
Stx11 T A 10: 12,941,917 D21V possibly damaging Het
Svep1 T A 4: 58,115,807 Y962F possibly damaging Het
Tbx5 G T 5: 119,836,907 probably benign Het
Tcf12 C A 9: 71,922,757 G141W probably damaging Het
Trim13 T A 14: 61,605,550 S339T probably benign Het
Ugt1a7c A G 1: 88,095,517 K133E possibly damaging Het
Usp40 A G 1: 87,950,017 V1050A probably benign Het
Vmn2r86 T G 10: 130,452,912 N240T probably damaging Het
Wdr36 T C 18: 32,859,261 V617A possibly damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wdr6 T C 9: 108,575,505 Y393C probably damaging Het
Zfp619 A T 7: 39,534,185 probably benign Het
Other mutations in Tmtc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00571:Tmtc2 APN 10 105321446 missense possibly damaging 0.82
IGL01284:Tmtc2 APN 10 105271511 missense possibly damaging 0.56
IGL01317:Tmtc2 APN 10 105413785 missense probably damaging 1.00
IGL01327:Tmtc2 APN 10 105348479 missense probably benign 0.15
IGL01637:Tmtc2 APN 10 105370085 missense probably benign 0.00
IGL02176:Tmtc2 APN 10 105348493 missense probably benign 0.00
IGL02354:Tmtc2 APN 10 105271526 missense probably benign 0.00
IGL02361:Tmtc2 APN 10 105271526 missense probably benign 0.00
IGL02514:Tmtc2 APN 10 105190099 missense possibly damaging 0.94
IGL02540:Tmtc2 APN 10 105413339 missense probably benign 0.45
IGL02938:Tmtc2 APN 10 105413296 missense probably damaging 1.00
IGL02939:Tmtc2 APN 10 105370550 missense probably damaging 1.00
IGL03388:Tmtc2 APN 10 105321483 splice site probably benign
PIT4402001:Tmtc2 UTSW 10 105413407 missense probably damaging 1.00
PIT4449001:Tmtc2 UTSW 10 105303604 missense probably damaging 1.00
R1424:Tmtc2 UTSW 10 105413368 missense probably benign 0.00
R1462:Tmtc2 UTSW 10 105573705 nonsense probably null
R1462:Tmtc2 UTSW 10 105573705 nonsense probably null
R1529:Tmtc2 UTSW 10 105303658 missense probably damaging 1.00
R1903:Tmtc2 UTSW 10 105190108 missense probably benign 0.00
R2225:Tmtc2 UTSW 10 105370357 missense probably benign 0.22
R4280:Tmtc2 UTSW 10 105348433 critical splice donor site probably null
R4602:Tmtc2 UTSW 10 105413530 missense probably benign
R4603:Tmtc2 UTSW 10 105413530 missense probably benign
R4624:Tmtc2 UTSW 10 105303650 missense probably benign 0.04
R4625:Tmtc2 UTSW 10 105303650 missense probably benign 0.04
R4628:Tmtc2 UTSW 10 105303650 missense probably benign 0.04
R4629:Tmtc2 UTSW 10 105303650 missense probably benign 0.04
R5192:Tmtc2 UTSW 10 105190177 missense probably damaging 1.00
R5769:Tmtc2 UTSW 10 105370046 missense probably benign 0.00
R5846:Tmtc2 UTSW 10 105271441 intron probably benign
R5892:Tmtc2 UTSW 10 105413505 missense probably benign 0.08
R5897:Tmtc2 UTSW 10 105413598 missense probably damaging 1.00
R6362:Tmtc2 UTSW 10 105369970 missense probably damaging 1.00
R6391:Tmtc2 UTSW 10 105573690 missense probably benign 0.06
R6640:Tmtc2 UTSW 10 105573749 start codon destroyed probably benign 0.01
R6812:Tmtc2 UTSW 10 105413269 missense probably benign 0.01
R6975:Tmtc2 UTSW 10 105323002 missense probably benign 0.01
R7042:Tmtc2 UTSW 10 105370616 missense probably damaging 1.00
R7063:Tmtc2 UTSW 10 105348525 missense probably damaging 1.00
R7211:Tmtc2 UTSW 10 105573726 missense probably benign 0.31
R7288:Tmtc2 UTSW 10 105413608 missense probably damaging 1.00
R7576:Tmtc2 UTSW 10 105370621 missense probably damaging 1.00
R7728:Tmtc2 UTSW 10 105271497 critical splice donor site probably null
R7850:Tmtc2 UTSW 10 105573707 missense probably benign 0.01
R7933:Tmtc2 UTSW 10 105573707 missense probably benign 0.01
R8024:Tmtc2 UTSW 10 105190126 missense probably benign 0.37
Z1176:Tmtc2 UTSW 10 105303622 missense probably damaging 1.00
Posted On2015-04-16