Incidental Mutation 'R6906:Trdn'
ID 538787
Institutional Source Beutler Lab
Gene Symbol Trdn
Ensembl Gene ENSMUSG00000019787
Gene Name triadin
Synonyms triadin 2, triadin 1, 2310045H21Rik, EG432451, triadin-2, triadin-3, triadin-1, triadin 3
MMRRC Submission 044998-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R6906 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 32959479-33352705 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 33109944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 294 (C294Y)
Ref Sequence ENSEMBL: ENSMUSP00000151999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095762] [ENSMUST00000219665] [ENSMUST00000219931]
AlphaFold E9Q9K5
Predicted Effect probably benign
Transcript: ENSMUST00000095762
SMART Domains Protein: ENSMUSP00000093436
Gene: ENSMUSG00000019787

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 benign
Transcript: ENSMUST00000219211
Predicted Effect probably benign
Transcript: ENSMUST00000219665
Predicted Effect probably benign
Transcript: ENSMUST00000219931
AA Change: C294Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
Validation Efficiency 98% (45/46)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf2 A G 5: 24,773,840 (GRCm39) F350L possibly damaging Het
Ahnak2 T A 12: 112,748,933 (GRCm39) T305S probably benign Het
Anp32a A G 9: 62,284,851 (GRCm39) probably benign Het
Aplf A G 6: 87,607,068 (GRCm39) S449P possibly damaging Het
Arl6ip4 A G 5: 124,254,614 (GRCm39) R36G possibly damaging Het
Ascc1 G A 10: 59,840,674 (GRCm39) D12N probably benign Het
Bin1 C A 18: 32,554,978 (GRCm39) H243Q probably benign Het
Ccdc168 C T 1: 44,095,173 (GRCm39) S1975N probably benign Het
Ccdc7a C A 8: 129,662,162 (GRCm39) V547L unknown Het
Cntnap5c T A 17: 58,702,302 (GRCm39) N1207K probably benign Het
Coro7 C A 16: 4,451,168 (GRCm39) R507L probably benign Het
Crtap T A 9: 114,210,700 (GRCm39) K291N probably benign Het
Csmd3 T C 15: 47,710,569 (GRCm39) T1569A probably benign Het
Dmrta1 A G 4: 89,580,203 (GRCm39) T388A probably benign Het
Ehd3 T C 17: 74,137,333 (GRCm39) F501L probably damaging Het
Fbn2 A C 18: 58,204,891 (GRCm39) L1184R possibly damaging Het
Fhip1b G A 7: 105,037,476 (GRCm39) T369I probably damaging Het
Hsf1 T C 15: 76,361,919 (GRCm39) probably null Het
Hycc1 A T 5: 24,204,956 (GRCm39) W12R probably damaging Het
Kansl1l T C 1: 66,762,437 (GRCm39) H810R possibly damaging Het
Lrp5 A T 19: 3,672,638 (GRCm39) I557N probably damaging Het
Lypd1 T C 1: 125,838,196 (GRCm39) E41G probably damaging Het
Mgam A G 6: 40,724,853 (GRCm39) Y443C probably damaging Het
Muc2 A G 7: 141,284,976 (GRCm39) D871G probably damaging Het
Nup85 T A 11: 115,471,769 (GRCm39) Y198N probably damaging Het
Obscn T A 11: 58,923,744 (GRCm39) M6578L possibly damaging Het
Or8h7 T C 2: 86,721,091 (GRCm39) T143A probably benign Het
Osbpl5 G C 7: 143,248,065 (GRCm39) Q667E probably damaging Het
Ovgp1 T A 3: 105,894,189 (GRCm39) probably benign Het
Prl8a2 T A 13: 27,532,900 (GRCm39) N37K probably benign Het
Ptprf A T 4: 118,126,474 (GRCm39) I93N possibly damaging Het
Rnf112 T C 11: 61,341,215 (GRCm39) S457G probably null Het
Sema3e A G 5: 14,290,601 (GRCm39) D562G probably damaging Het
Sesn3 A G 9: 14,236,937 (GRCm39) M472V probably damaging Het
Sfpq GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC GCCGCCGCAGCAGCC 4: 126,915,419 (GRCm39) probably benign Het
Shc3 T C 13: 51,620,595 (GRCm39) T144A probably damaging Het
Sis A G 3: 72,826,818 (GRCm39) L1287P probably damaging Het
Srrm2 C T 17: 24,039,337 (GRCm39) P2090S probably damaging Het
Syne2 T G 12: 76,042,760 (GRCm39) D3910E possibly damaging Het
Tcaim C T 9: 122,663,839 (GRCm39) T443I probably benign Het
Tex19.1 T C 11: 121,037,948 (GRCm39) V102A probably benign Het
Tpd52l1 T G 10: 31,208,950 (GRCm39) T168P possibly damaging Het
Trmt1l T C 1: 151,327,926 (GRCm39) Y479H probably benign Het
Vmn1r171 G A 7: 23,331,804 (GRCm39) V10I probably benign Het
Zbtb41 T A 1: 139,351,128 (GRCm39) D80E possibly damaging Het
Zcchc4 A G 5: 52,980,976 (GRCm39) K473E possibly damaging Het
Other mutations in Trdn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Trdn APN 10 33,347,602 (GRCm39) critical splice donor site probably null
IGL01310:Trdn APN 10 33,181,094 (GRCm39) splice site probably benign
IGL01313:Trdn APN 10 33,076,216 (GRCm39) missense probably damaging 1.00
IGL02177:Trdn APN 10 33,015,169 (GRCm39) missense probably damaging 1.00
IGL02631:Trdn APN 10 33,239,972 (GRCm39) critical splice acceptor site probably null
IGL02732:Trdn APN 10 33,344,195 (GRCm39) splice site probably null
IGL03131:Trdn APN 10 33,274,410 (GRCm39) nonsense probably null
Button UTSW 10 33,350,449 (GRCm39) missense probably damaging 0.97
R0463:Trdn UTSW 10 33,342,417 (GRCm39) critical splice acceptor site probably null
R0610:Trdn UTSW 10 33,350,449 (GRCm39) missense probably damaging 0.97
R0786:Trdn UTSW 10 33,181,077 (GRCm39) missense probably benign 0.22
R0827:Trdn UTSW 10 33,275,154 (GRCm39) splice site probably benign
R1511:Trdn UTSW 10 33,342,448 (GRCm39) missense probably benign 0.18
R1623:Trdn UTSW 10 33,134,098 (GRCm39) missense possibly damaging 0.82
R1760:Trdn UTSW 10 33,109,883 (GRCm39) missense possibly damaging 0.92
R1766:Trdn UTSW 10 33,240,004 (GRCm39) missense probably damaging 1.00
R1884:Trdn UTSW 10 33,133,091 (GRCm39) missense probably benign 0.38
R2297:Trdn UTSW 10 33,211,008 (GRCm39) missense probably damaging 1.00
R2396:Trdn UTSW 10 33,071,978 (GRCm39) missense probably damaging 1.00
R3436:Trdn UTSW 10 33,344,191 (GRCm39) critical splice donor site probably null
R3686:Trdn UTSW 10 33,344,185 (GRCm39) missense probably benign 0.20
R3696:Trdn UTSW 10 33,181,028 (GRCm39) splice site probably null
R3701:Trdn UTSW 10 33,210,980 (GRCm39) missense probably damaging 0.99
R3712:Trdn UTSW 10 33,033,162 (GRCm39) missense probably benign 0.03
R4062:Trdn UTSW 10 33,133,083 (GRCm39) missense probably benign 0.05
R4249:Trdn UTSW 10 33,326,994 (GRCm39) missense probably benign 0.09
R4289:Trdn UTSW 10 33,340,578 (GRCm39) missense probably benign 0.00
R4646:Trdn UTSW 10 33,071,977 (GRCm39) nonsense probably null
R4647:Trdn UTSW 10 33,071,977 (GRCm39) nonsense probably null
R4648:Trdn UTSW 10 33,071,977 (GRCm39) nonsense probably null
R4766:Trdn UTSW 10 33,350,502 (GRCm39) missense probably benign 0.04
R4776:Trdn UTSW 10 33,275,078 (GRCm39) splice site probably null
R4880:Trdn UTSW 10 33,347,575 (GRCm39) missense probably benign 0.26
R4898:Trdn UTSW 10 33,350,413 (GRCm39) missense probably damaging 0.96
R5017:Trdn UTSW 10 33,344,155 (GRCm39) missense probably benign 0.05
R5300:Trdn UTSW 10 33,071,978 (GRCm39) missense probably damaging 1.00
R5320:Trdn UTSW 10 33,209,247 (GRCm39) critical splice donor site probably null
R6089:Trdn UTSW 10 33,340,571 (GRCm39) missense probably benign 0.01
R6216:Trdn UTSW 10 33,181,065 (GRCm39) missense probably damaging 1.00
R6431:Trdn UTSW 10 33,015,110 (GRCm39) missense probably damaging 1.00
R6475:Trdn UTSW 10 33,340,551 (GRCm39) splice site probably null
R6501:Trdn UTSW 10 33,342,450 (GRCm39) missense probably benign 0.02
R6662:Trdn UTSW 10 33,350,483 (GRCm39) missense probably damaging 0.98
R6709:Trdn UTSW 10 33,340,587 (GRCm39) missense probably benign 0.00
R6783:Trdn UTSW 10 33,314,811 (GRCm39) missense probably damaging 0.96
R6916:Trdn UTSW 10 33,033,014 (GRCm39) missense probably damaging 1.00
R7291:Trdn UTSW 10 33,313,732 (GRCm39) missense probably null 0.83
R7499:Trdn UTSW 10 33,072,097 (GRCm39) missense probably benign
R7601:Trdn UTSW 10 33,072,152 (GRCm39) missense probably benign 0.00
R7743:Trdn UTSW 10 33,133,058 (GRCm39) nonsense probably null
R8114:Trdn UTSW 10 32,959,624 (GRCm39) start gained probably benign
R8220:Trdn UTSW 10 33,326,981 (GRCm39) missense possibly damaging 0.57
R8228:Trdn UTSW 10 33,033,014 (GRCm39) missense probably damaging 1.00
R8329:Trdn UTSW 10 33,320,074 (GRCm39) splice site probably null
R8918:Trdn UTSW 10 33,015,117 (GRCm39) missense probably benign 0.33
R9304:Trdn UTSW 10 33,181,087 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGATGCATACAGGGATTAGATGTAC -3'
(R):5'- CACTGGTCTTCCTCCAAGAAG -3'

Sequencing Primer
(F):5'- AGATGTACCTATTTTAGCTCTGGATG -3'
(R):5'- CTTCCTCCAAGAAGATGGGGTTC -3'
Posted On 2018-11-06