Incidental Mutation 'R8276:Tmcc3'
ID |
637986 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmcc3
|
Ensembl Gene |
ENSMUSG00000020023 |
Gene Name |
transmembrane and coiled coil domains 3 |
Synonyms |
A230066D03Rik, LOC380656, C630016B22Rik |
MMRRC Submission |
067699-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8276 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
94147811-94426818 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 94418170 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 344
(T344S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063264
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065060]
[ENSMUST00000117460]
[ENSMUST00000117929]
[ENSMUST00000121471]
[ENSMUST00000132743]
[ENSMUST00000148823]
[ENSMUST00000148910]
|
AlphaFold |
Q8R310 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065060
AA Change: T344S
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000063264 Gene: ENSMUSG00000020023 AA Change: T344S
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_cc2
|
65 |
465 |
1.2e-160 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117460
AA Change: T313S
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000112669 Gene: ENSMUSG00000020023 AA Change: T313S
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_cc2
|
32 |
435 |
1.6e-176 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117929
AA Change: T313S
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000112401 Gene: ENSMUSG00000020023 AA Change: T313S
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_cc2
|
32 |
435 |
1.6e-176 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121471
AA Change: T313S
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000113122 Gene: ENSMUSG00000020023 AA Change: T313S
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_cc2
|
32 |
435 |
1.6e-176 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132743
|
SMART Domains |
Protein: ENSMUSP00000119751 Gene: ENSMUSG00000020023
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_cc2
|
47 |
134 |
3.3e-44 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148823
|
SMART Domains |
Protein: ENSMUSP00000119496 Gene: ENSMUSG00000020023
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_cc2
|
85 |
210 |
3.6e-47 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148910
|
SMART Domains |
Protein: ENSMUSP00000121456 Gene: ENSMUSG00000020023
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_cc2
|
34 |
76 |
1.6e-15 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
98% (44/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
A |
14: 32,385,885 (GRCm39) |
R27W |
probably damaging |
Het |
Acbd5 |
A |
G |
2: 22,959,563 (GRCm39) |
D39G |
probably benign |
Het |
Amdhd2 |
C |
G |
17: 24,382,574 (GRCm39) |
R22P |
probably damaging |
Het |
Ankmy1 |
T |
C |
1: 92,814,531 (GRCm39) |
I325M |
probably benign |
Het |
Cyld |
A |
G |
8: 89,461,556 (GRCm39) |
I664M |
probably benign |
Het |
Dnajc10 |
T |
C |
2: 80,179,614 (GRCm39) |
M716T |
probably benign |
Het |
Dock10 |
T |
A |
1: 80,505,998 (GRCm39) |
T1743S |
probably benign |
Het |
Dop1a |
T |
C |
9: 86,399,092 (GRCm39) |
S947P |
probably benign |
Het |
Ep300 |
C |
G |
15: 81,534,229 (GRCm39) |
N2095K |
possibly damaging |
Het |
Evi2a |
T |
A |
11: 79,418,316 (GRCm39) |
N98I |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Far2 |
G |
T |
6: 148,075,399 (GRCm39) |
V420L |
probably benign |
Het |
Gng5 |
A |
G |
3: 146,206,258 (GRCm39) |
|
probably benign |
Het |
Heatr5b |
G |
A |
17: 79,098,968 (GRCm39) |
R1311* |
probably null |
Het |
Hhipl2 |
A |
T |
1: 183,217,328 (GRCm39) |
K478M |
possibly damaging |
Het |
Hs3st1 |
A |
T |
5: 39,772,146 (GRCm39) |
Y166N |
probably damaging |
Het |
Jcad |
T |
A |
18: 4,674,318 (GRCm39) |
S693R |
probably damaging |
Het |
Kcnmb3 |
A |
G |
3: 32,536,572 (GRCm39) |
L52P |
probably damaging |
Het |
Mib1 |
T |
C |
18: 10,751,880 (GRCm39) |
I254T |
possibly damaging |
Het |
Myo18b |
T |
C |
5: 112,943,273 (GRCm39) |
K1644R |
possibly damaging |
Het |
Nherf2 |
G |
T |
17: 24,861,234 (GRCm39) |
Y175* |
probably null |
Het |
Nlrp2 |
G |
A |
7: 5,320,494 (GRCm39) |
T881M |
probably benign |
Het |
Or11h23 |
T |
A |
14: 50,948,287 (GRCm39) |
S167T |
probably benign |
Het |
Or52h9 |
A |
T |
7: 104,202,522 (GRCm39) |
Y132F |
probably damaging |
Het |
Pkd1l3 |
A |
C |
8: 110,397,353 (GRCm39) |
*2152C |
probably null |
Het |
Polr2a |
G |
A |
11: 69,638,882 (GRCm39) |
R51C |
probably damaging |
Het |
Ptpru |
C |
T |
4: 131,506,484 (GRCm39) |
G1026D |
probably damaging |
Het |
Rbm46 |
A |
G |
3: 82,771,895 (GRCm39) |
V240A |
probably damaging |
Het |
Rrm1 |
G |
A |
7: 102,110,059 (GRCm39) |
|
probably null |
Het |
Ryr3 |
T |
C |
2: 112,470,962 (GRCm39) |
D4637G |
probably damaging |
Het |
Selenos |
G |
A |
7: 65,729,552 (GRCm39) |
|
probably benign |
Het |
Serpina1e |
G |
T |
12: 103,913,428 (GRCm39) |
T364K |
probably damaging |
Het |
Shroom3 |
A |
T |
5: 93,088,339 (GRCm39) |
Q363L |
probably damaging |
Het |
Slc9b1 |
A |
C |
3: 135,077,658 (GRCm39) |
E139D |
possibly damaging |
Het |
Tjp1 |
A |
T |
7: 64,993,544 (GRCm39) |
|
probably benign |
Het |
Tnrc6b |
T |
A |
15: 80,764,918 (GRCm39) |
S807T |
probably benign |
Het |
Trav7-6 |
A |
T |
14: 53,954,695 (GRCm39) |
H95L |
probably benign |
Het |
Trmu |
T |
A |
15: 85,766,932 (GRCm39) |
V47D |
possibly damaging |
Het |
Uba6 |
C |
A |
5: 86,290,509 (GRCm39) |
|
probably benign |
Het |
Unc79 |
A |
G |
12: 102,968,122 (GRCm39) |
D116G |
possibly damaging |
Het |
Vmn2r93 |
G |
A |
17: 18,525,649 (GRCm39) |
|
probably null |
Het |
Zfp541 |
A |
T |
7: 15,813,009 (GRCm39) |
H554L |
possibly damaging |
Het |
Zfp618 |
A |
G |
4: 63,051,193 (GRCm39) |
H658R |
probably damaging |
Het |
Zmym1 |
A |
T |
4: 126,948,051 (GRCm39) |
Y107N |
probably damaging |
Het |
|
Other mutations in Tmcc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01347:Tmcc3
|
APN |
10 |
94,418,147 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01455:Tmcc3
|
APN |
10 |
94,422,617 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02376:Tmcc3
|
APN |
10 |
94,414,429 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL03073:Tmcc3
|
APN |
10 |
94,414,813 (GRCm39) |
missense |
probably benign |
0.40 |
IGL03348:Tmcc3
|
APN |
10 |
94,414,942 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0131:Tmcc3
|
UTSW |
10 |
94,381,437 (GRCm39) |
splice site |
probably benign |
|
R0360:Tmcc3
|
UTSW |
10 |
94,414,407 (GRCm39) |
missense |
probably benign |
|
R0840:Tmcc3
|
UTSW |
10 |
94,414,633 (GRCm39) |
missense |
probably benign |
0.05 |
R1994:Tmcc3
|
UTSW |
10 |
94,414,468 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1995:Tmcc3
|
UTSW |
10 |
94,414,468 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2184:Tmcc3
|
UTSW |
10 |
94,418,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R2197:Tmcc3
|
UTSW |
10 |
94,414,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R2273:Tmcc3
|
UTSW |
10 |
94,414,777 (GRCm39) |
missense |
probably damaging |
0.97 |
R2274:Tmcc3
|
UTSW |
10 |
94,414,777 (GRCm39) |
missense |
probably damaging |
0.97 |
R3763:Tmcc3
|
UTSW |
10 |
94,415,179 (GRCm39) |
missense |
probably benign |
0.42 |
R4690:Tmcc3
|
UTSW |
10 |
94,381,419 (GRCm39) |
utr 5 prime |
probably benign |
|
R4763:Tmcc3
|
UTSW |
10 |
94,415,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R4816:Tmcc3
|
UTSW |
10 |
94,414,646 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5385:Tmcc3
|
UTSW |
10 |
94,415,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R6177:Tmcc3
|
UTSW |
10 |
94,418,249 (GRCm39) |
missense |
probably damaging |
0.97 |
R6636:Tmcc3
|
UTSW |
10 |
94,414,286 (GRCm39) |
missense |
probably benign |
0.14 |
R6898:Tmcc3
|
UTSW |
10 |
94,387,034 (GRCm39) |
splice site |
probably null |
|
R7128:Tmcc3
|
UTSW |
10 |
94,266,496 (GRCm39) |
start gained |
probably benign |
|
R7313:Tmcc3
|
UTSW |
10 |
94,266,434 (GRCm39) |
start gained |
probably benign |
|
R7320:Tmcc3
|
UTSW |
10 |
94,414,357 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7456:Tmcc3
|
UTSW |
10 |
94,418,174 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7874:Tmcc3
|
UTSW |
10 |
94,386,889 (GRCm39) |
critical splice donor site |
probably null |
|
R7876:Tmcc3
|
UTSW |
10 |
94,414,397 (GRCm39) |
missense |
probably benign |
0.03 |
R8098:Tmcc3
|
UTSW |
10 |
94,415,078 (GRCm39) |
missense |
probably benign |
0.00 |
R8274:Tmcc3
|
UTSW |
10 |
94,422,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R8939:Tmcc3
|
UTSW |
10 |
94,381,483 (GRCm39) |
intron |
probably benign |
|
R9418:Tmcc3
|
UTSW |
10 |
94,415,087 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Predicted Primers |
PCR Primer
(F):5'- CTAGAATTGGGATTCAGGGGTGAC -3'
(R):5'- TCATGACGGAATGCTTGGGG -3'
Sequencing Primer
(F):5'- CAGGGGTGACAAAAATTGTGTTTCC -3'
(R):5'- CGGAATGCTTGGGGAAGTGTAC -3'
|
Posted On |
2020-07-28 |