Mutagenetix > Incidental Mutation

Incidental Mutation 'R7291:Trdn'

566423

Institutional Source

Beutler Lab

Gene Symbol

Trdn

Ensembl Gene

ENSMUSG00000019787

Gene Name

triadin

Synonyms

triadin-2, triadin 2, triadin 1, triadin 3, EG432451, 2310045H21Rik, triadin-1, triadin-3

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R7291 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33080554-33476709 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33437736 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 500 (E500V)

Ref Sequence

ENSEMBL: ENSMUSP00000093436 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095762]

AlphaFold

E9Q9K5

Predicted Effect

probably null
Transcript: ENSMUST00000095762
AA Change: E500V

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000093436
Gene: ENSMUSG00000019787
AA Change: E500V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430069I07Rik	T	C	15: 34,355,553	E51G	possibly damaging	Het
9530053A07Rik	A	C	7: 28,140,220	D486A	probably benign	Het
Abca14	C	A	7: 120,289,609	C1259*	probably null	Het
Ablim1	T	C	19: 57,215,908	E17G	probably benign	Het
Acsf3	G	A	8: 122,813,577	V505I	probably benign	Het
Actn1	T	C	12: 80,174,085	M650V	probably benign	Het
Adamts4	G	A	1: 171,256,528	V525I	probably benign	Het
Adh1	T	C	3: 138,282,808	Y181H	probably damaging	Het
Alpl	G	A	4: 137,752,698	R168W	probably damaging	Het
Ate1	T	G	7: 130,519,931	K11Q	probably benign	Het
Atpaf1	T	A	4: 115,811,091	F314L	probably damaging	Het
Baiap3	T	A	17: 25,244,317	D1004V	probably damaging	Het
Bpifb9a	C	T	2: 154,267,696	T504M	probably damaging	Het
C1s2	T	A	6: 124,625,384	I623F	probably benign	Het
Card11	T	C	5: 140,901,070	D308G	probably damaging	Het
Cul9	C	T	17: 46,540,433	V354I	probably benign	Het
Dnah1	A	T	14: 31,298,705	F1236I	probably damaging	Het
Dync2h1	T	A	9: 6,929,590	I4266F	possibly damaging	Het
Ear10	A	T	14: 43,922,920	V150D	probably damaging	Het
Elfn2	C	T	15: 78,672,983	A455T	probably benign	Het
Erp44	A	G	4: 48,208,792	Y223H	probably damaging	Het
Fam110b	T	A	4: 5,798,895	H104Q	probably benign	Het
Fcgbp	A	G	7: 28,101,392	N1288D	probably benign	Het
Fcrl1	T	C	3: 87,385,781		probably null	Het
Fmo2	G	T	1: 162,887,702	P117Q	probably benign	Het
Fsip2	A	G	2: 82,980,519	K2394R	possibly damaging	Het
Gab1	T	G	8: 80,800,151	K106T	probably damaging	Het
Gatad2b	T	C	3: 90,351,414	V248A	probably damaging	Het
Gemin6	T	C	17: 80,227,775	S55P	possibly damaging	Het
Gfm2	G	A	13: 97,175,024	V701I	probably benign	Het
Gm3250	T	C	10: 77,782,227	T106A	unknown	Het
Gm7356	T	C	17: 14,001,581	N62S	probably benign	Het
Gsdmc4	T	C	15: 63,902,840	T31A	possibly damaging	Het
H2-M10.1	T	A	17: 36,325,729	D61V	probably damaging	Het
Heatr5a	A	G	12: 51,925,339	L716S	probably damaging	Het
Hecw2	A	G	1: 53,914,594	Y831H	probably damaging	Het
Ifi202b	C	T	1: 173,974,815	S151N	probably benign	Het
Il15ra	C	T	2: 11,718,381	T72I	probably damaging	Het
Ints1	A	G	5: 139,765,074	L858P	probably damaging	Het
Kat2a	C	T	11: 100,710,900	V230I	possibly damaging	Het
Kcnq2	A	T	2: 181,088,379	I498N	possibly damaging	Het
Kif26b	C	T	1: 178,679,046	T229I	possibly damaging	Het
Ly75	T	A	2: 60,329,993	I957F	probably damaging	Het
Map3k12	T	A	15: 102,502,166	R459W	probably damaging	Het
Mia2	T	A	12: 59,158,369		probably null	Het
Mrgprf	A	G	7: 145,307,469	I53V	unknown	Het
Mttp	A	G	3: 138,091,203	L846P	probably damaging	Het
Myrip	C	T	9: 120,417,141	L112F	probably damaging	Het
Nav1	A	G	1: 135,465,859	F1047S	probably damaging	Het
Nfkbib	T	C	7: 28,759,203	D327G	possibly damaging	Het
Notch1	C	T	2: 26,476,375	V776I	probably benign	Het
Obsl1	G	T	1: 75,489,517	D1522E	probably damaging	Het
Olfr1464-ps1	A	T	19: 13,282,153	F302I	unknown	Het
Olfr605	T	A	7: 103,442,788	M112L	probably benign	Het
Olfr823	T	C	10: 130,112,224	K189E	probably benign	Het
Olfr859	T	C	9: 19,808,648	M110T	possibly damaging	Het
Pde7a	T	C	3: 19,227,674	N471D	probably benign	Het
Pla2r1	T	C	2: 60,530,435	H203R	probably benign	Het
Plch2	C	A	4: 154,998,472	C573F	probably damaging	Het
Polr1a	G	A	6: 71,941,456	R666Q	probably benign	Het
Prepl	T	C	17: 85,081,240	N145S	probably benign	Het
Psen2	C	T	1: 180,238,956	V139M	probably benign	Het
Ptgdr	A	T	14: 44,859,192	M21K	possibly damaging	Het
Rapgef6	T	C	11: 54,691,239	W1331R	probably benign	Het
Rp1l1	G	A	14: 64,032,298	G1778S	probably benign	Het
Rrbp1	A	T	2: 143,969,462	M824K	probably benign	Het
Sel1l	T	C	12: 91,848,965	T23A	probably benign	Het
Sele	A	G	1: 164,053,868	S515G	possibly damaging	Het
Slc22a23	T	C	13: 34,197,839	N421D	probably damaging	Het
Slc35f3	T	G	8: 126,394,558	L386R	probably benign	Het
Stab2	G	A	10: 86,946,220	S699L	probably damaging	Het
Synrg	A	T	11: 84,009,381	L726F	probably damaging	Het
Syt3	G	A	7: 44,395,919	V528M	probably damaging	Het
Szt2	A	G	4: 118,391,249	I655T	probably damaging	Het
Tbr1	T	C	2: 61,812,256	S622P	probably damaging	Het
Tex36	C	T	7: 133,587,223	G207S	probably benign	Het
Trav5n-4	G	A	14: 53,312,942	W13*	probably null	Het
Ugt2b38	A	T	5: 87,411,895	N379K	probably damaging	Het
Unc13d	T	C	11: 116,074,050	R248G	possibly damaging	Het
Vmn1r195	C	T	13: 22,278,749	L130F	probably damaging	Het
Vmn2r110	T	C	17: 20,574,209	I733V	probably benign	Het
Zfp870	T	A	17: 32,883,854	N167I	probably damaging	Het
Zmynd10	A	T	9: 107,549,304	M179L	probably benign	Het

Other mutations in Trdn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Trdn	APN	10	33471606	critical splice donor site	probably null
IGL01310:Trdn	APN	10	33305098	splice site	probably benign
IGL01313:Trdn	APN	10	33200220	missense	probably damaging	1.00
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
R7499:Trdn	UTSW	10	33196101	missense	probably benign
R7601:Trdn	UTSW	10	33196156	missense	probably benign	0.00
R7743:Trdn	UTSW	10	33257062	nonsense	probably null
R8114:Trdn	UTSW	10	33083628	start gained	probably benign
R8220:Trdn	UTSW	10	33450985	missense	possibly damaging	0.57
R8228:Trdn	UTSW	10	33157018	missense	probably damaging	1.00
R8329:Trdn	UTSW	10	33444078	splice site	probably null
R8918:Trdn	UTSW	10	33139121	missense	probably benign	0.33
R9304:Trdn	UTSW	10	33305091	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCAAGTATCTGTTCACCTGAGG -3'
(R):5'- CCATCTGCATAACTACTGTATTGAG -3'

Sequencing Primer
(F):5'- GTTCACCTGAGGCACATTTTAAAAAC -3'
(R):5'- CTACTGTATTGAGGATAGCACTTGCC -3'

Posted On

2019-06-26