Mutagenetix > Incidental Mutation

Incidental Mutation 'R3696:Trdn'

269825

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

040690-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R3696 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32959479-33352705 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 33181028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

E9Q9K5

Predicted Effect

probably null
Transcript: ENSMUST00000095762

SMART Domains

Protein: ENSMUSP00000093436
Gene: ENSMUSG00000019787

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: ENSMUST00000219211

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219978

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (37/37)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh4a1	A	G	4: 139,369,562 (GRCm39)	H371R	possibly damaging	Het
Anapc4	A	G	5: 53,019,351 (GRCm39)	S562G	probably null	Het
Arfgef2	T	A	2: 166,695,220 (GRCm39)	L531*	probably null	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Cacna1s	A	G	1: 136,033,552 (GRCm39)	M1010V	probably damaging	Het
Chga	A	G	12: 102,527,724 (GRCm39)	E126G	probably damaging	Het
Ckap5	C	A	2: 91,450,511 (GRCm39)	T2014K	probably benign	Het
Dlat	C	T	9: 50,562,176 (GRCm39)	V283I	possibly damaging	Het
Emc1	T	G	4: 139,092,697 (GRCm39)	S546A	possibly damaging	Het
Ephx1	G	A	1: 180,817,516 (GRCm39)	S385L	probably benign	Het
Ermard	T	C	17: 15,273,638 (GRCm39)	S408P	probably benign	Het
Etl4	G	A	2: 20,806,473 (GRCm39)		probably null	Het
Hydin	T	C	8: 111,329,911 (GRCm39)	S4882P	probably damaging	Het
Il12a	TCAC	TC	3: 68,605,320 (GRCm39)		probably null	Het
Il6st	T	G	13: 112,640,916 (GRCm39)	D897E	probably benign	Het
Ipo5	A	C	14: 121,159,574 (GRCm39)	K134T	probably benign	Het
Itgb8	A	G	12: 119,140,746 (GRCm39)	V377A	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Lama3	A	G	18: 12,572,532 (GRCm39)		probably benign	Het
Macf1	T	G	4: 123,350,155 (GRCm39)	T2027P	probably damaging	Het
Myh13	A	C	11: 67,235,870 (GRCm39)	I678L	possibly damaging	Het
Nfu1	A	G	6: 86,992,634 (GRCm39)	T83A	probably damaging	Het
Nid1	G	A	13: 13,661,344 (GRCm39)	C748Y	probably damaging	Het
Or1af1	C	T	2: 37,110,188 (GRCm39)	P229L	probably damaging	Het
Or5w15	T	C	2: 87,568,360 (GRCm39)	T103A	probably benign	Het
Prm3	T	C	16: 10,608,672 (GRCm39)	M28V	possibly damaging	Het
Rgs22	C	T	15: 36,100,038 (GRCm39)	V226I	probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Septin4	A	T	11: 87,476,060 (GRCm39)	T212S	possibly damaging	Het
Trim2	T	A	3: 84,098,158 (GRCm39)	Y390F	probably benign	Het
Vmn1r17	T	A	6: 57,337,523 (GRCm39)	I232F	possibly damaging	Het
Zfp30	A	T	7: 29,492,815 (GRCm39)	K356N	probably damaging	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
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
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'- ATGCCATGGATGTTGAGAGG -3'
(R):5'- TTACTGAAGAAGAGTGGCCAGC -3'

Sequencing Primer
(F):5'- CCATGGATGTTGAGAGGGTATTG -3'
(R):5'- CAGATGGTGCCCTTCTGCAATAAAC -3'

Posted On

2015-03-18