Mutagenetix > Incidental Mutation

Incidental Mutation 'R2297:Trdn'

245205

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

040296-MU

Accession Numbers

Essential gene?

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

Stock #

R2297 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32959479-33352705 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 33211008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 400 (P400Q)

Ref Sequence

ENSEMBL: ENSMUSP00000093436 (fasta)

Gene Model

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

AlphaFold

E9Q9K5

Predicted Effect

probably damaging
Transcript: ENSMUST00000095762
AA Change: P400Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093436
Gene: ENSMUSG00000019787
AA Change: P400Q

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

unknown
Transcript: ENSMUST00000219211
AA Change: P204Q

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	G	A	11: 3,840,127 (GRCm39)	A90V	probably damaging	Het
Aco2	A	T	15: 81,788,109 (GRCm39)	D114V	probably damaging	Het
Cop1	C	T	1: 159,080,124 (GRCm39)	H185Y	possibly damaging	Het
Cyp2a12	A	G	7: 26,734,057 (GRCm39)	D330G	possibly damaging	Het
Dcaf6	T	C	1: 165,227,431 (GRCm39)	Y232C	probably damaging	Het
Ddx42	T	G	11: 106,133,765 (GRCm39)	D580E	probably damaging	Het
Dtl	A	G	1: 191,273,207 (GRCm39)	V567A	probably benign	Het
Fem1c	T	C	18: 46,639,228 (GRCm39)	K258R	possibly damaging	Het
Galnt12	T	A	4: 47,113,834 (GRCm39)	V84D	probably damaging	Het
Grm1	T	G	10: 10,956,158 (GRCm39)	D42A	probably benign	Het
H3f3a	C	T	1: 180,630,703 (GRCm39)	R117H	probably benign	Het
Ncapd3	C	T	9: 26,952,797 (GRCm39)	R109*	probably null	Het
Or5c1	A	G	2: 37,222,155 (GRCm39)	N132S	probably benign	Het
Pimreg	T	C	11: 71,933,906 (GRCm39)	S11P	probably damaging	Het
Ppp1r16b	G	A	2: 158,603,286 (GRCm39)	E404K	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Slc6a11	A	G	6: 114,108,386 (GRCm39)	N50S	probably benign	Het
Stab2	T	A	10: 86,790,338 (GRCm39)		probably null	Het
Tmem132d	T	C	5: 128,345,608 (GRCm39)	T305A	possibly damaging	Het
Tnfrsf13b	A	G	11: 61,038,271 (GRCm39)	T185A	probably benign	Het
Zfp119b	T	A	17: 56,246,355 (GRCm39)	Y277F	possibly 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
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'- ACACACTCGTTGAACTCGGG -3'
(R):5'- GCCTCCTGGGAAGATCAATTGATG -3'

Sequencing Primer
(F):5'- CTCGGGAGAAAAGGCTCTC -3'
(R):5'- CCTGGGAAGATCAATTGATGTACACC -3'

Posted On

2014-10-30