Mutagenetix > Incidental Mutation

Incidental Mutation 'R4646:Trdn'

350257

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

041907-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R4646 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32959479-33352705 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 33071977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 215 (E215*)

Ref Sequence

ENSEMBL: ENSMUSP00000152042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095762] [ENSMUST00000217779] [ENSMUST00000219665] [ENSMUST00000219931] [ENSMUST00000219982]

AlphaFold

E9Q9K5

Predicted Effect

probably null
Transcript: ENSMUST00000095762
AA Change: E215*

SMART Domains

Protein: ENSMUSP00000093436
Gene: ENSMUSG00000019787
AA Change: E215*

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000217779
AA Change: E215*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219000

Predicted Effect

probably null
Transcript: ENSMUST00000219211
AA Change: E5*

Predicted Effect

probably null
Transcript: ENSMUST00000219665
AA Change: E215*

Predicted Effect

probably null
Transcript: ENSMUST00000219931
AA Change: E215*

Predicted Effect

probably null
Transcript: ENSMUST00000219982
AA Change: E215*

Coding Region Coverage

1x: 99.0%
3x: 98.6%
10x: 97.4%
20x: 95.6%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700031F05Rik	G	T	X: 101,904,515 (GRCm39)	N132K	possibly damaging	Het
2010315B03Rik	T	A	9: 124,056,228 (GRCm39)	Y232F	probably benign	Het
Acadl	A	T	1: 66,870,602 (GRCm39)	S428R	probably benign	Het
Adamts10	A	G	17: 33,764,529 (GRCm39)	D683G	probably damaging	Het
Angptl4	G	A	17: 34,000,273 (GRCm39)	P32S	probably benign	Het
Apob	A	G	12: 8,062,759 (GRCm39)	N134S	probably benign	Het
Atr	G	A	9: 95,753,250 (GRCm39)		probably null	Het
B4galnt1	G	A	10: 127,003,705 (GRCm39)	V223M	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
C1galt1c1	A	T	X: 37,720,349 (GRCm39)	S216T	probably benign	Het
C2cd3	A	C	7: 100,021,657 (GRCm39)		probably benign	Het
Clca4b	A	C	3: 144,634,286 (GRCm39)	H102Q	probably benign	Het
Cntrl	T	C	2: 35,039,473 (GRCm39)	I557T	probably damaging	Het
Col26a1	G	A	5: 136,876,404 (GRCm39)	S72F	probably damaging	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Csmd1	T	C	8: 15,982,511 (GRCm39)	I2719V	possibly damaging	Het
Cul9	C	T	17: 46,849,943 (GRCm39)	W502*	probably null	Het
Dazl	A	T	17: 50,595,183 (GRCm39)	F84I	probably damaging	Het
Dcaf1	G	T	9: 106,724,006 (GRCm39)	R478L	probably benign	Het
Dock5	T	G	14: 68,080,228 (GRCm39)	I198L	probably benign	Het
Dock9	A	T	14: 121,823,658 (GRCm39)	L1428H	probably damaging	Het
Dync1li1	T	A	9: 114,538,237 (GRCm39)	V198E	probably damaging	Het
Egf	A	T	3: 129,513,925 (GRCm39)	C429S	probably damaging	Het
Ehmt1	T	C	2: 24,781,696 (GRCm39)	E7G	probably null	Het
Ercc4	G	T	16: 12,965,438 (GRCm39)	R690L	probably damaging	Het
Erich5	T	C	15: 34,471,112 (GRCm39)	C114R	possibly damaging	Het
Etv1	T	C	12: 38,915,685 (GRCm39)	S428P	possibly damaging	Het
Fbxo31	G	T	8: 122,286,755 (GRCm39)	F174L	probably benign	Het
Fbxo33	T	A	12: 59,251,217 (GRCm39)	I433L	probably benign	Het
Fez2	A	T	17: 78,720,357 (GRCm39)	V99E	probably damaging	Het
Gabarapl2	A	C	8: 112,669,185 (GRCm39)	K48Q	probably damaging	Het
Gfi1b	T	A	2: 28,500,149 (GRCm39)	H294L	probably damaging	Het
Gk2	A	G	5: 97,604,056 (GRCm39)	S261P	probably damaging	Het
Gpr158	T	C	2: 21,831,864 (GRCm39)	I988T	probably benign	Het
Grk3	G	C	5: 113,077,586 (GRCm39)	H394D	probably benign	Het
Grm6	A	G	11: 50,748,033 (GRCm39)	E381G	probably benign	Het
Gtf3c1	A	T	7: 125,258,266 (GRCm39)	M1268K	possibly damaging	Het
Hikeshi	A	T	7: 89,572,854 (GRCm39)	I113N	probably damaging	Het
Hmg20b	T	A	10: 81,184,416 (GRCm39)	Q129L	probably damaging	Het
Hunk	C	A	16: 90,272,791 (GRCm39)	T365K	probably damaging	Het
Ints15	A	T	5: 143,293,740 (GRCm39)	W246R	probably damaging	Het
Kdm5a	T	G	6: 120,351,938 (GRCm39)	V176G	possibly damaging	Het
Kif2a	T	A	13: 107,098,693 (GRCm39)	E691V	probably damaging	Het
Ly6e	T	C	15: 74,830,510 (GRCm39)		probably null	Het
Map1b	G	T	13: 99,568,977 (GRCm39)	P1248Q	unknown	Het
Mettl25	A	G	10: 105,662,416 (GRCm39)	S185P	probably damaging	Het
Mfap3l	T	A	8: 61,124,184 (GRCm39)	V142D	probably damaging	Het
Mip	T	A	10: 128,062,922 (GRCm39)	H122Q	probably benign	Het
Mkx	G	A	18: 6,992,040 (GRCm39)	T280I	probably benign	Het
Msi1	A	T	5: 115,589,514 (GRCm39)		probably null	Het
Mtcl2	T	C	2: 156,862,426 (GRCm39)	E1501G	probably damaging	Het
Muc5b	A	G	7: 141,416,377 (GRCm39)	M3108V	probably benign	Het
Mybl1	A	G	1: 9,742,511 (GRCm39)	S625P	probably damaging	Het
Myo7b	C	A	18: 32,127,422 (GRCm39)	V627F	probably benign	Het
Ndst3	A	T	3: 123,465,684 (GRCm39)	I96N	probably damaging	Het
Nrp1	A	T	8: 129,184,425 (GRCm39)	T357S	probably benign	Het
Obscn	G	T	11: 59,015,396 (GRCm39)	Y1050*	probably null	Het
Or2ak7	A	G	11: 58,575,556 (GRCm39)	N286D	probably damaging	Het
Or2d4	A	T	7: 106,543,547 (GRCm39)	N220K	probably benign	Het
Or2y1c	A	C	11: 49,361,451 (GRCm39)	I158L	probably benign	Het
Or4c107	T	A	2: 88,789,556 (GRCm39)	F249I	probably damaging	Het
Or5d47	A	T	2: 87,804,142 (GRCm39)	I289K	probably benign	Het
Or5i1	T	C	2: 87,613,565 (GRCm39)	V227A	possibly damaging	Het
Otof	T	C	5: 30,540,914 (GRCm39)	E875G	possibly damaging	Het
Pick1	A	T	15: 79,133,137 (GRCm39)	D399V	probably benign	Het
Pik3c2g	T	A	6: 139,665,744 (GRCm39)	S22T	probably benign	Het
Pnpla2	A	G	7: 141,038,574 (GRCm39)	E276G	possibly damaging	Het
Pomk	A	T	8: 26,473,633 (GRCm39)	S107T	probably damaging	Het
Rbm46	A	T	3: 82,771,765 (GRCm39)	D283E	probably benign	Het
Rimbp3	A	G	16: 17,030,962 (GRCm39)	D1462G	probably damaging	Het
Rnf112	T	A	11: 61,342,936 (GRCm39)	E230V	probably damaging	Het
Rock1	T	C	18: 10,112,391 (GRCm39)	T455A	probably benign	Het
Rtp4	A	T	16: 23,428,790 (GRCm39)	M18L	probably benign	Het
Scaf11	A	T	15: 96,317,981 (GRCm39)		probably null	Het
Schip1	T	C	3: 67,972,297 (GRCm39)	V8A	probably benign	Het
Sec31b	T	C	19: 44,515,060 (GRCm39)	H351R	probably benign	Het
Sh3bp5l	A	G	11: 58,237,177 (GRCm39)	D378G	probably benign	Het
Sowahb	T	C	5: 93,190,715 (GRCm39)	D668G	probably damaging	Het
Spam1	A	G	6: 24,800,586 (GRCm39)	T442A	probably benign	Het
Syt14	T	A	1: 192,615,633 (GRCm39)	Y451F	probably damaging	Het
Tafa5	T	G	15: 87,604,783 (GRCm39)	S115A	probably damaging	Het
Tdh	A	G	14: 63,731,205 (GRCm39)	L323P	possibly damaging	Het
Tet2	A	T	3: 133,193,843 (GRCm39)	M197K	probably benign	Het
Thbs1	G	A	2: 117,948,810 (GRCm39)	A489T	probably benign	Het
Tnfaip1	C	T	11: 78,420,008 (GRCm39)	R88Q	probably damaging	Het
Tnn	T	C	1: 159,973,612 (GRCm39)	M252V	probably benign	Het
Trim55	T	C	3: 19,725,286 (GRCm39)	F268L	probably benign	Het
Trmt112	T	A	19: 6,887,816 (GRCm39)	V55E	possibly damaging	Het
Tube1	A	G	10: 39,018,363 (GRCm39)	M147V	possibly damaging	Het
Ubn1	A	G	16: 4,895,851 (GRCm39)	T966A	probably damaging	Het
Unc80	A	G	1: 66,708,394 (GRCm39)	I2651V	probably benign	Het
Vmn1r172	G	A	7: 23,359,919 (GRCm39)	R268H	probably benign	Het
Vmn1r231	T	A	17: 21,110,571 (GRCm39)	I115F	probably damaging	Het
Vmn1r237	A	G	17: 21,534,400 (GRCm39)	K41R	probably benign	Het
Vmn2r58	A	T	7: 41,509,935 (GRCm39)	N547K	probably damaging	Het
Vmn2r74	T	C	7: 85,606,782 (GRCm39)	D188G	probably benign	Het
Vwa5b2	A	G	16: 20,415,079 (GRCm39)	K367R	probably damaging	Het
Washc4	T	A	10: 83,410,407 (GRCm39)	M665K	possibly damaging	Het
Wbp11	T	A	6: 136,798,189 (GRCm39)	Y236F	probably benign	Het
Wbp4	T	A	14: 79,709,801 (GRCm39)	I145F	possibly damaging	Het
Wwc2	C	A	8: 48,373,636 (GRCm39)	D77Y	probably damaging	Het
Zpld2	G	A	4: 133,929,459 (GRCm39)	A282V	probably benign	Het

Other mutations in Trdn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TCACCTGTCCATGACTTGTATG -3'
(R):5'- AGTTGACTGCATCTGCTTCTTG -3'

Sequencing Primer
(F):5'- TGCCTTTTAAAATGGGACT -3'
(R):5'- ATTATTCTCTTTGGACCTCCTGCTG -3'

Posted On

2015-10-08