Incidental Mutation 'R6916:Trdn'
| ID |
539360 |
| 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 |
045037-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R6916 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
32959479-33352705 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33033014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 80
(S80P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095762]
[ENSMUST00000217779]
[ENSMUST00000218281]
[ENSMUST00000219665]
[ENSMUST00000219931]
[ENSMUST00000219982]
|
| AlphaFold |
E9Q9K5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095762
AA Change: S80P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093436
Gene: ENSMUSG00000019787
AA Change: S80P
| 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 damaging
Transcript: ENSMUST00000217779
AA Change: S80P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000218281
AA Change: S10P
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219665
AA Change: S80P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219931
AA Change: S80P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219982
AA Change: S80P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
98% (59/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,211,318 (GRCm39) |
I684K |
possibly damaging |
Het |
| Abcg3 |
T |
A |
5: 105,122,601 (GRCm39) |
R97S |
probably benign |
Het |
| Acin1 |
A |
T |
14: 54,902,873 (GRCm39) |
F160L |
probably benign |
Het |
| Aoc1l2 |
T |
A |
6: 48,907,987 (GRCm39) |
I329N |
probably benign |
Het |
| Asb10 |
T |
C |
5: 24,742,854 (GRCm39) |
D293G |
probably damaging |
Het |
| Atp6v1c1 |
T |
C |
15: 38,677,825 (GRCm39) |
S117P |
probably benign |
Het |
| Bahcc1 |
T |
A |
11: 120,163,835 (GRCm39) |
V711E |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,799,120 (GRCm39) |
S335T |
probably benign |
Het |
| Bdkrb2 |
C |
T |
12: 105,558,038 (GRCm39) |
A93V |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,817,321 (GRCm39) |
V1247D |
probably damaging |
Het |
| Cenpb |
A |
C |
2: 131,021,544 (GRCm39) |
F85V |
probably benign |
Het |
| Cep112 |
C |
A |
11: 108,750,202 (GRCm39) |
Q142K |
probably damaging |
Het |
| Ciita |
T |
A |
16: 10,327,071 (GRCm39) |
|
probably null |
Het |
| Cnr1 |
A |
G |
4: 33,943,897 (GRCm39) |
D95G |
probably benign |
Het |
| Ctnnd1 |
A |
T |
2: 84,439,990 (GRCm39) |
D767E |
probably benign |
Het |
| Ddx20 |
T |
C |
3: 105,587,929 (GRCm39) |
N384D |
probably damaging |
Het |
| Dnaaf3 |
T |
A |
7: 4,530,532 (GRCm39) |
D191V |
probably damaging |
Het |
| Efna1 |
T |
C |
3: 89,183,695 (GRCm39) |
N44D |
possibly damaging |
Het |
| Errfi1 |
A |
T |
4: 150,951,930 (GRCm39) |
K453* |
probably null |
Het |
| Fam149a |
C |
A |
8: 45,803,443 (GRCm39) |
K349N |
probably damaging |
Het |
| Fbxl20 |
T |
A |
11: 98,004,079 (GRCm39) |
I70L |
possibly damaging |
Het |
| Flnb |
C |
T |
14: 7,907,171 (GRCm38) |
T1248I |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,455,109 (GRCm39) |
R2156G |
probably damaging |
Het |
| Ftl1 |
T |
C |
7: 45,108,964 (GRCm39) |
Y31C |
probably damaging |
Het |
| Gm5862 |
G |
T |
5: 26,224,346 (GRCm39) |
H208N |
probably benign |
Het |
| Hc |
A |
T |
2: 34,900,044 (GRCm39) |
Y1096* |
probably null |
Het |
| Hps1 |
ATCCTCCTCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTCCTC |
19: 42,755,164 (GRCm39) |
|
|
Het |
| Ints3 |
T |
C |
3: 90,313,641 (GRCm39) |
D329G |
probably damaging |
Het |
| Irak3 |
A |
T |
10: 120,037,270 (GRCm39) |
L32Q |
probably damaging |
Het |
| Kifbp |
T |
C |
10: 62,401,843 (GRCm39) |
T20A |
probably benign |
Het |
| Klrb1f |
A |
T |
6: 129,030,774 (GRCm39) |
D95V |
probably benign |
Het |
| Krt79 |
C |
T |
15: 101,844,605 (GRCm39) |
D260N |
probably benign |
Het |
| Lrp11 |
C |
A |
10: 7,484,478 (GRCm39) |
|
probably null |
Het |
| Lrrc10 |
C |
A |
10: 116,881,454 (GRCm39) |
R43S |
possibly damaging |
Het |
| Muc5b |
A |
T |
7: 141,418,454 (GRCm39) |
Y3800F |
possibly damaging |
Het |
| Myh14 |
T |
C |
7: 44,278,737 (GRCm39) |
K1003E |
probably damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,455,176 (GRCm39) |
I2567T |
probably damaging |
Het |
| Necab2 |
G |
T |
8: 120,194,355 (GRCm39) |
R277L |
probably damaging |
Het |
| Nell1 |
T |
C |
7: 50,350,927 (GRCm39) |
Y525H |
probably benign |
Het |
| Olfm4 |
T |
A |
14: 80,251,638 (GRCm39) |
M186K |
probably damaging |
Het |
| Or10d1c |
T |
C |
9: 38,894,200 (GRCm39) |
I47V |
probably benign |
Het |
| Or1e29 |
T |
A |
11: 73,667,895 (GRCm39) |
Q86L |
probably benign |
Het |
| Or2h2b-ps1 |
T |
C |
17: 37,480,864 (GRCm39) |
K225R |
probably benign |
Het |
| Pcdhb11 |
A |
T |
18: 37,555,434 (GRCm39) |
S255C |
possibly damaging |
Het |
| Rrbp1 |
A |
T |
2: 143,816,518 (GRCm39) |
C704S |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sh2d3c |
C |
T |
2: 32,642,665 (GRCm39) |
R552* |
probably null |
Het |
| Sh3d19 |
A |
G |
3: 85,992,218 (GRCm39) |
E82G |
probably benign |
Het |
| Son |
T |
A |
16: 91,451,673 (GRCm39) |
L140Q |
probably damaging |
Het |
| Svil |
G |
A |
18: 5,114,682 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,177,912 (GRCm39) |
K4854R |
probably benign |
Het |
| Tlcd4 |
T |
C |
3: 121,000,805 (GRCm39) |
D276G |
possibly damaging |
Het |
| Tmem202 |
C |
A |
9: 59,432,757 (GRCm39) |
|
probably benign |
Het |
| Trak2 |
T |
C |
1: 58,949,184 (GRCm39) |
T539A |
probably benign |
Het |
| Ugt2b37 |
T |
A |
5: 87,402,459 (GRCm39) |
R57S |
probably benign |
Het |
| Usp34 |
G |
A |
11: 23,408,023 (GRCm39) |
R2616Q |
probably damaging |
Het |
| Usp48 |
T |
C |
4: 137,365,544 (GRCm39) |
Y113H |
probably damaging |
Het |
| Vtcn1 |
G |
T |
3: 100,795,479 (GRCm39) |
|
probably null |
Het |
| Wdr19 |
G |
A |
5: 65,382,677 (GRCm39) |
R467Q |
possibly damaging |
Het |
| Wdr72 |
A |
G |
9: 74,062,321 (GRCm39) |
Y489C |
probably benign |
Het |
| Wipf1 |
C |
A |
2: 73,267,748 (GRCm39) |
G217W |
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 |
|
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 |
|
|
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'- TGGAGACACAAGGGTAATCACC -3'
(R):5'- AACCCTCAGCAAGTCAGTGTC -3'
Sequencing Primer
(F):5'- ACAAACTTTGGTATATTGTGCAGTC -3'
(R):5'- GTGTCAAGAGTGTCCAATACCCTG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation