Incidental Mutation 'IGL01313:Trdn'
ID73737
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trdn
Ensembl Gene ENSMUSG00000019787
Gene Nametriadin
Synonymstriadin-2, triadin 2, triadin 1, triadin 3, EG432451, 2310045H21Rik, triadin-1, triadin-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL01313
Quality Score
Status
Chromosome10
Chromosomal Location33080554-33476709 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 33200220 bp
ZygosityHeterozygous
Amino Acid Change Proline to Glutamine at position 282 (P282Q)
Ref Sequence ENSEMBL: ENSMUSP00000151583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095762] [ENSMUST00000217779] [ENSMUST00000219665] [ENSMUST00000219931] [ENSMUST00000219982]
Predicted Effect probably damaging
Transcript: ENSMUST00000095762
AA Change: P282Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093436
Gene: ENSMUSG00000019787
AA Change: P282Q

DomainStartEndE-ValueType
SCOP:d1lnqa2 49 116 1e-4 SMART
low complexity region 147 158 N/A INTRINSIC
low complexity region 166 182 N/A INTRINSIC
low complexity region 198 223 N/A INTRINSIC
low complexity region 229 250 N/A INTRINSIC
coiled coil region 306 333 N/A INTRINSIC
low complexity region 342 352 N/A INTRINSIC
low complexity region 380 396 N/A INTRINSIC
coiled coil region 417 437 N/A INTRINSIC
low complexity region 448 484 N/A INTRINSIC
low complexity region 539 551 N/A INTRINSIC
low complexity region 559 572 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000217779
AA Change: P282Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219000
Predicted Effect unknown
Transcript: ENSMUST00000219211
AA Change: P72Q
Predicted Effect probably benign
Transcript: ENSMUST00000219665
Predicted Effect probably benign
Transcript: ENSMUST00000219931
Predicted Effect probably benign
Transcript: ENSMUST00000219982
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein that contains a single transmembrane domain. As similar protein in rabbits plays a role in skeletal muscle excitation-contraction coupling as part of the calcium release complex in association with the ryanodine receptor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and single nucleotide polymorphisms in this gene may be markers for IgA nephritis. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit a loss of transverse orientation of triads within skeletal muscle cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,645,010 probably null Het
Abca7 T A 10: 80,003,123 probably benign Het
Acvr1c T G 2: 58,315,974 Q41H probably benign Het
Apob A T 12: 8,000,898 N1041Y probably damaging Het
Asb5 A T 8: 54,585,763 probably benign Het
Asxl3 A T 18: 22,517,459 E835V probably benign Het
Ccdc73 A T 2: 104,907,627 M23L probably benign Het
Cep170b G A 12: 112,735,652 R293H probably damaging Het
Chd8 C A 14: 52,210,575 L316F probably damaging Het
Cldn13 T C 5: 134,915,260 S24G possibly damaging Het
Cnot10 A T 9: 114,631,855 N82K probably benign Het
Colec10 G A 15: 54,459,761 V127M probably damaging Het
Cyp2d40 T C 15: 82,761,277 S130G unknown Het
Ddx60 T A 8: 61,982,526 H904Q probably damaging Het
Dnajc2 T C 5: 21,774,976 N177S possibly damaging Het
F5 G T 1: 164,193,612 V1219L probably benign Het
Fam47c G T X: 78,737,848 R12L probably damaging Het
Fat4 T C 3: 39,007,201 I4311T possibly damaging Het
Fbf1 A G 11: 116,151,081 V545A probably benign Het
Fhod3 G A 18: 25,020,720 E420K probably damaging Het
Ikzf2 T C 1: 69,539,430 K162E probably damaging Het
Insl6 C A 19: 29,321,553 S153I possibly damaging Het
Kcnh8 A G 17: 52,834,680 Y317C probably damaging Het
Lrrc6 A T 15: 66,380,513 S435T probably benign Het
Lzts1 C A 8: 69,139,107 V130L probably benign Het
Mill1 T C 7: 18,264,633 I256T possibly damaging Het
Mycbpap A C 11: 94,509,319 probably null Het
Olfr808 A G 10: 129,767,595 Y33C probably damaging Het
Pdia6 T A 12: 17,270,541 probably benign Het
Pik3c2b C T 1: 133,071,631 Q406* probably null Het
Pkhd1 C A 1: 20,201,024 G3102C probably damaging Het
Polr3b T A 10: 84,725,743 I1122N probably damaging Het
Ryr2 T A 13: 11,638,485 probably null Het
Samhd1 A G 2: 157,116,401 I300T probably damaging Het
Skint5 T A 4: 113,805,164 I609F unknown Het
Slc27a3 G T 3: 90,386,554 T541K probably damaging Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Sv2c C T 13: 96,088,289 V171M probably damaging Het
Tenm2 A G 11: 36,024,248 V2154A probably damaging Het
Thoc1 A T 18: 9,987,158 I433F probably benign Het
Thoc2 A T X: 41,827,346 V865D probably benign Het
Twsg1 C A 17: 65,948,704 C25F probably damaging Het
Usp34 T A 11: 23,473,206 I3155N probably damaging Het
Vmn2r106 T A 17: 20,278,389 Q420L probably damaging Het
Vmn2r109 C T 17: 20,550,157 R523K probably damaging Het
Other mutations in Trdn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Trdn APN 10 33471606 critical splice donor site probably null
IGL01310:Trdn APN 10 33305098 splice site probably benign
IGL02177:Trdn APN 10 33139173 missense probably damaging 1.00
IGL02631:Trdn APN 10 33363976 critical splice acceptor site probably null
IGL02732:Trdn APN 10 33468199 splice site probably null
IGL03131:Trdn APN 10 33398414 nonsense probably null
Button UTSW 10 33474453 missense probably damaging 0.97
R0463:Trdn UTSW 10 33466421 critical splice acceptor site probably null
R0610:Trdn UTSW 10 33474453 missense probably damaging 0.97
R0786:Trdn UTSW 10 33305081 missense probably benign 0.22
R0827:Trdn UTSW 10 33399158 splice site probably benign
R1511:Trdn UTSW 10 33466452 missense probably benign 0.18
R1623:Trdn UTSW 10 33258102 missense possibly damaging 0.82
R1760:Trdn UTSW 10 33233887 missense possibly damaging 0.92
R1766:Trdn UTSW 10 33364008 missense probably damaging 1.00
R1884:Trdn UTSW 10 33257095 missense probably benign 0.38
R2297:Trdn UTSW 10 33335012 missense probably damaging 1.00
R2396:Trdn UTSW 10 33195982 missense probably damaging 1.00
R3436:Trdn UTSW 10 33468195 critical splice donor site probably null
R3686:Trdn UTSW 10 33468189 missense probably benign 0.20
R3696:Trdn UTSW 10 33305032 splice site probably null
R3701:Trdn UTSW 10 33334984 missense probably damaging 0.99
R3712:Trdn UTSW 10 33157166 missense probably benign 0.03
R4062:Trdn UTSW 10 33257087 missense probably benign 0.05
R4249:Trdn UTSW 10 33450998 missense probably benign 0.09
R4289:Trdn UTSW 10 33464582 missense probably benign 0.00
R4646:Trdn UTSW 10 33195981 nonsense probably null
R4647:Trdn UTSW 10 33195981 nonsense probably null
R4648:Trdn UTSW 10 33195981 nonsense probably null
R4766:Trdn UTSW 10 33474506 missense probably benign 0.04
R4776:Trdn UTSW 10 33399082 splice site probably null
R4880:Trdn UTSW 10 33471579 missense probably benign 0.26
R4898:Trdn UTSW 10 33474417 missense probably damaging 0.96
R5017:Trdn UTSW 10 33468159 missense probably benign 0.05
R5300:Trdn UTSW 10 33195982 missense probably damaging 1.00
R5320:Trdn UTSW 10 33333251 critical splice donor site probably null
R6089:Trdn UTSW 10 33464575 missense probably benign 0.01
R6216:Trdn UTSW 10 33305069 missense probably damaging 1.00
R6431:Trdn UTSW 10 33139114 missense probably damaging 1.00
R6475:Trdn UTSW 10 33464555 splice site probably null
R6501:Trdn UTSW 10 33466454 missense probably benign 0.02
R6662:Trdn UTSW 10 33474487 missense probably damaging 0.98
R6709:Trdn UTSW 10 33464591 missense probably benign 0.00
R6783:Trdn UTSW 10 33438815 missense probably damaging 0.96
R6906:Trdn UTSW 10 33233948 missense probably benign
R6916:Trdn UTSW 10 33157018 missense probably damaging 1.00
R7291:Trdn UTSW 10 33437736 missense probably null 0.83
Posted On2013-10-07