Mutagenetix > Incidental Mutation

Incidental Mutation 'R1760:Trdn'

192708

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

039792-MU

Accession Numbers

Essential gene?

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

Stock #

R1760 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32959479-33352705 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33109883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 294 (T294A)

Ref Sequence

ENSEMBL: ENSMUSP00000093436 (fasta)

Gene Model

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

AlphaFold

E9Q9K5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095762
AA Change: T294A

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000093436
Gene: ENSMUSG00000019787
AA Change: T294A

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

noncoding transcript
Transcript: ENSMUST00000217716

Predicted Effect

unknown
Transcript: ENSMUST00000219211
AA Change: T84A

Predicted Effect

probably benign
Transcript: ENSMUST00000219665
AA Change: T274A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219691

Predicted Effect

probably benign
Transcript: ENSMUST00000219931
AA Change: T274A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0845

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

97% (95/98)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,333,055 (GRCm39)	S1585P	probably benign	Het
Abhd16b	T	C	2: 181,135,197 (GRCm39)	F33S	probably damaging	Het
Adgra2	G	A	8: 27,609,795 (GRCm39)	R856Q	probably damaging	Het
Aff3	A	T	1: 38,368,945 (GRCm39)		probably benign	Het
Anxa2	A	T	9: 69,397,049 (GRCm39)	Y251F	probably benign	Het
Arid1b	A	G	17: 5,392,088 (GRCm39)	T1873A	probably damaging	Het
Baz1b	C	A	5: 135,271,378 (GRCm39)	D1320E	probably benign	Het
Bbs1	A	T	19: 4,944,350 (GRCm39)	S426R	probably benign	Het
Bid	A	G	6: 120,877,209 (GRCm39)	V44A	possibly damaging	Het
Ccdc60	T	A	5: 116,310,532 (GRCm39)	M177L	probably damaging	Het
Cdh23	G	A	10: 60,161,855 (GRCm39)	T1997M	probably damaging	Het
Cdh5	T	A	8: 104,854,801 (GRCm39)	M243K	probably benign	Het
Clpb	T	A	7: 101,435,905 (GRCm39)	V578E	possibly damaging	Het
Cngb1	C	A	8: 96,026,328 (GRCm39)	C151F	probably benign	Het
Cntnap5b	T	C	1: 99,700,535 (GRCm39)	S16P	probably benign	Het
Cr1l	T	A	1: 194,797,123 (GRCm39)	M305L	probably benign	Het
Ctnnal1	A	T	4: 56,838,988 (GRCm39)	M235K	probably damaging	Het
Ddx55	A	T	5: 124,706,176 (GRCm39)	R534W	probably damaging	Het
Dip2b	T	A	15: 100,109,910 (GRCm39)	L1465Q	probably damaging	Het
Dnah9	G	T	11: 65,872,048 (GRCm39)	D2727E	probably benign	Het
Dph3b-ps	A	C	13: 106,683,497 (GRCm39)		noncoding transcript	Het
Dst	T	A	1: 34,267,684 (GRCm39)	L2702Q	probably damaging	Het
Efnb2	T	C	8: 8,673,184 (GRCm39)	T158A	possibly damaging	Het
Exosc10	A	T	4: 148,662,926 (GRCm39)	K712*	probably null	Het
Fgr	T	C	4: 132,725,653 (GRCm39)	V354A	possibly damaging	Het
Fsip2	A	G	2: 82,830,185 (GRCm39)	D6893G	possibly damaging	Het
Fsip2	G	A	2: 82,815,240 (GRCm39)	V3658M	probably benign	Het
Fsip2	A	T	2: 82,818,055 (GRCm39)	H4596L	possibly damaging	Het
Gm1527	G	A	3: 28,949,699 (GRCm39)		probably benign	Het
Gm5150	G	T	3: 16,060,468 (GRCm39)	Q7K	probably benign	Het
Gpr155	C	T	2: 73,212,279 (GRCm39)	V115M	probably damaging	Het
Gpr75	T	C	11: 30,841,527 (GRCm39)	L144P	probably damaging	Het
Gsn	T	A	2: 35,174,835 (GRCm39)	Y127N	probably damaging	Het
Hk1	A	G	10: 62,117,678 (GRCm39)	L615S	probably damaging	Het
Igsf9b	A	G	9: 27,229,123 (GRCm39)	T194A	possibly damaging	Het
Il17rd	C	T	14: 26,813,763 (GRCm39)	Q46*	probably null	Het
Jak1	T	A	4: 101,020,126 (GRCm39)	M678L	probably benign	Het
Kif6	T	C	17: 49,922,311 (GRCm39)	V16A	probably benign	Het
Kpna3	T	C	14: 61,607,990 (GRCm39)	E405G	probably benign	Het
Lmtk2	C	A	5: 144,110,993 (GRCm39)	T571K	probably damaging	Het
Mucl2	T	C	15: 103,927,838 (GRCm39)	T40A	possibly damaging	Het
Myh11	G	A	16: 14,051,559 (GRCm39)		probably benign	Het
Myh7	C	T	14: 55,210,170 (GRCm39)	R1845Q	probably damaging	Het
Myo1f	T	A	17: 33,805,172 (GRCm39)	L480Q	probably benign	Het
Nek9	T	G	12: 85,352,364 (GRCm39)	D833A	possibly damaging	Het
Nek9	T	C	12: 85,357,184 (GRCm39)	E660G	probably benign	Het
Or10z1	C	T	1: 174,077,926 (GRCm39)	C189Y	probably damaging	Het
Or2a12	A	G	6: 42,904,431 (GRCm39)	I89V	possibly damaging	Het
Or2t45	A	G	11: 58,669,195 (GRCm39)	M81V	possibly damaging	Het
Or5h18	T	C	16: 58,847,350 (GRCm39)	R307G	probably benign	Het
Or6c65	T	A	10: 129,603,417 (GRCm39)	D17E	probably benign	Het
Or6f2	G	A	7: 139,756,188 (GRCm39)	V52M	probably damaging	Het
Or7s1a-ps1	T	A	9: 18,843,791 (GRCm39)		probably benign	Het
Otud3	G	T	4: 138,623,092 (GRCm39)	T383K	possibly damaging	Het
Pkp4	T	C	2: 59,142,185 (GRCm39)	L496P	probably damaging	Het
Pla2g4e	C	A	2: 120,000,527 (GRCm39)	A737S	possibly damaging	Het
Pla2g4f	T	C	2: 120,144,547 (GRCm39)		probably benign	Het
Plxnd1	A	T	6: 115,944,740 (GRCm39)	V1018E	possibly damaging	Het
Ppp1r21	T	G	17: 88,869,653 (GRCm39)	V402G	possibly damaging	Het
Prkcq	T	G	2: 11,304,881 (GRCm39)	M690R	probably damaging	Het
Ptpra	T	C	2: 130,391,747 (GRCm39)	I719T	probably damaging	Het
Rab3ip	C	T	10: 116,773,415 (GRCm39)	D133N	probably damaging	Het
Relch	T	G	1: 105,647,169 (GRCm39)		probably benign	Het
Rsbn1	T	A	3: 103,867,347 (GRCm39)	Y563N	probably damaging	Het
Rtf1	A	C	2: 119,558,889 (GRCm39)	D530A	probably benign	Het
Rybp	G	T	6: 100,209,224 (GRCm39)	S199R	probably benign	Het
Sema5a	T	G	15: 32,641,252 (GRCm39)	C689G	probably damaging	Het
Senp6	T	A	9: 80,025,911 (GRCm39)	V314E	probably benign	Het
Setd1a	T	A	7: 127,385,062 (GRCm39)	C47S	possibly damaging	Het
Slamf1	C	A	1: 171,604,734 (GRCm39)	T168K	probably benign	Het
Slc12a5	T	C	2: 164,838,048 (GRCm39)	S937P	probably damaging	Het
Slc38a11	C	T	2: 65,185,663 (GRCm39)		probably null	Het
Slc6a2	C	T	8: 93,687,846 (GRCm39)		probably benign	Het
Snw1	A	T	12: 87,511,459 (GRCm39)	F64Y	probably benign	Het
Spata9	A	C	13: 76,146,643 (GRCm39)	I172L	probably benign	Het
Sphkap	T	C	1: 83,255,265 (GRCm39)	H828R	probably benign	Het
Spmip6	T	A	4: 41,507,330 (GRCm39)		probably null	Het
Tmem94	A	T	11: 115,687,580 (GRCm39)	K1146N	probably damaging	Het
Tsc22d1	T	C	14: 76,654,388 (GRCm39)	V289A	possibly damaging	Het
Tti1	C	A	2: 157,834,955 (GRCm39)	V1002L	possibly damaging	Het
Tubgcp4	T	A	2: 121,019,952 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,643,180 (GRCm39)	E4181K	possibly damaging	Het
Uvrag	A	G	7: 98,537,555 (GRCm39)	S547P	probably benign	Het
Vav3	T	C	3: 109,248,443 (GRCm39)	V30A	possibly damaging	Het
Vegfa	A	G	17: 46,336,395 (GRCm39)	Y242H	probably damaging	Het
Vmn2r75	G	T	7: 85,798,019 (GRCm39)	T598K	probably damaging	Het
Vps13b	C	T	15: 35,884,765 (GRCm39)	S3146L	possibly damaging	Het
Vrk3	A	G	7: 44,417,895 (GRCm39)	Y310C	probably damaging	Het
Zfhx4	A	G	3: 5,447,676 (GRCm39)	K1100R	probably benign	Het
Zfp748	T	A	13: 67,693,540 (GRCm39)		probably null	Het
Zfp760	A	T	17: 21,941,311 (GRCm39)	D162V	probably damaging	Het
Znfx1	T	A	2: 166,881,786 (GRCm39)	M1068L	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
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
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'- ACTCTGTGAGAGCATCACCCCTAAG -3'
(R):5'- AAGAAGATGGGGTTCAACCCTCGG -3'

Sequencing Primer
(F):5'- TCACCCCTAAGATGTCATCTCAG -3'
(R):5'- GGTTCAACCCTCGGACATC -3'

Posted On

2014-05-23