Incidental Mutation 'R8918:Trdn'
ID 679059
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 068705-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R8918 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 32959479-33352705 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 33015117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 24 (I24F)
Ref Sequence ENSEMBL: ENSMUSP00000152042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095762] [ENSMUST00000217779] [ENSMUST00000218281] [ENSMUST00000219665] [ENSMUST00000219931] [ENSMUST00000219982]
AlphaFold E9Q9K5
Predicted Effect possibly damaging
Transcript: ENSMUST00000095762
AA Change: I24F

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000093436
Gene: ENSMUSG00000019787
AA Change: I24F

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: ENSMUST00000217779
AA Change: I24F

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000218281
Predicted Effect probably benign
Transcript: ENSMUST00000219665
AA Change: I24F

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect possibly damaging
Transcript: ENSMUST00000219931
AA Change: I24F

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000219982
AA Change: I24F

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T C 5: 114,333,315 (GRCm39) F480L probably damaging Het
Actr6 A T 10: 89,553,057 (GRCm39) I267N probably damaging Het
Ank2 A G 3: 126,737,380 (GRCm39) S2835P unknown Het
Arfgef3 C T 10: 18,511,453 (GRCm39) R753Q probably benign Het
Arid3a A G 10: 79,784,765 (GRCm39) T285A probably benign Het
Atad5 T C 11: 79,986,473 (GRCm39) V520A probably benign Het
Atoh1 T G 6: 64,707,241 (GRCm39) L312R probably damaging Het
Brd10 T C 19: 29,696,841 (GRCm39) K884R possibly damaging Het
Cpt1a T C 19: 3,408,258 (GRCm39) V179A Het
Crocc2 C A 1: 93,129,144 (GRCm39) N816K possibly damaging Het
Csf2ra A T 19: 61,214,721 (GRCm39) V201D probably damaging Het
Dok1 C T 6: 83,008,324 (GRCm39) V453I probably benign Het
Elp4 A G 2: 105,662,600 (GRCm39) S175P probably benign Het
Erh G T 12: 80,684,282 (GRCm39) A65E probably benign Het
Etl4 G A 2: 20,748,733 (GRCm39) S357N probably benign Het
Etl4 A G 2: 20,811,246 (GRCm39) T1478A probably benign Het
Gabra1 A G 11: 42,026,320 (GRCm39) F324S probably damaging Het
Gm11437 T C 11: 84,043,530 (GRCm39) T254A probably benign Het
Gria2 T C 3: 80,599,706 (GRCm39) E726G probably damaging Het
Gstm2 A T 3: 107,892,382 (GRCm39) C115S possibly damaging Het
Ighv1-12 T C 12: 114,579,553 (GRCm39) T90A probably damaging Het
Inf2 A G 12: 112,572,703 (GRCm39) I690V unknown Het
Kdm3b A G 18: 34,970,650 (GRCm39) N1739S probably damaging Het
Lrp1b A T 2: 40,615,893 (GRCm39) N3614K Het
Mapk8ip3 A G 17: 25,131,727 (GRCm39) L404P probably damaging Het
Mcl1 T C 3: 95,567,192 (GRCm39) F251S probably damaging Het
Mdn1 T A 4: 32,744,579 (GRCm39) L4038* probably null Het
Mmp8 T C 9: 7,561,485 (GRCm39) V163A probably benign Het
Myo18b C T 5: 113,022,873 (GRCm39) probably benign Het
Ndst1 C T 18: 60,825,083 (GRCm39) R745H probably benign Het
Or4d2b A G 11: 87,780,284 (GRCm39) V146A probably benign Het
Or8c18 T C 9: 38,203,385 (GRCm39) F48S probably benign Het
Pard3 C T 8: 128,098,011 (GRCm39) R351C probably benign Het
Pcdhgb4 A G 18: 37,855,648 (GRCm39) D681G probably damaging Het
Pde10a G A 17: 9,160,063 (GRCm39) A163T possibly damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pelp1 A G 11: 70,296,505 (GRCm39) L123S probably damaging Het
Plekhh2 A G 17: 84,906,621 (GRCm39) D1152G possibly damaging Het
Rag1 T C 2: 101,472,098 (GRCm39) T1015A probably benign Het
Rock2 C T 12: 16,990,422 (GRCm39) Q115* probably null Het
Rorb T A 19: 18,915,356 (GRCm39) H434L probably damaging Het
Safb2 A T 17: 56,882,975 (GRCm39) C219* probably null Het
Sema3a A G 5: 13,573,099 (GRCm39) H209R probably damaging Het
Serpinb9g T G 13: 33,679,131 (GRCm39) S334A probably benign Het
Slc5a9 T A 4: 111,741,147 (GRCm39) M500L probably benign Het
Snap91 A G 9: 86,651,611 (GRCm39) S810P unknown Het
Spink5 G T 18: 44,100,087 (GRCm39) A35S probably damaging Het
Stxbp5l G A 16: 36,954,892 (GRCm39) T887I Het
Tacc2 T C 7: 130,227,823 (GRCm39) F1503L probably benign Het
Tectb A G 19: 55,180,000 (GRCm39) E272G probably damaging Het
Tshr G A 12: 91,504,211 (GRCm39) S383N probably benign Het
Tspan1 C A 4: 116,020,970 (GRCm39) C149F probably damaging Het
Ttn A T 2: 76,570,862 (GRCm39) L26677Q probably damaging Het
Ush2a T A 1: 188,270,017 (GRCm39) F1755I possibly damaging Het
Vps13d T A 4: 144,772,873 (GRCm39) I4047F Het
Zfp1010 A C 2: 176,958,551 (GRCm39) S29R probably benign Het
Zfp369 T A 13: 65,443,529 (GRCm39) L336* probably null Het
Zfp518a A C 19: 40,901,870 (GRCm39) K600Q possibly damaging Het
Zfp984 T C 4: 147,840,623 (GRCm39) H76R possibly damaging Het
Zscan10 G A 17: 23,826,116 (GRCm39) G138S probably benign 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
R6906:Trdn UTSW 10 33,109,944 (GRCm39) missense probably benign
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
R9304:Trdn UTSW 10 33,181,087 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGGCCTATTGTCCTGCATTG -3'
(R):5'- GCACCTTGGGAGAATATTTTCCC -3'

Sequencing Primer
(F):5'- CCTGCATTGCATGGGTGTATTCTAC -3'
(R):5'- CCTTGGGAGAATATTTTCCCATTGAC -3'
Posted On 2021-08-02