Incidental Mutation 'R0840:Tmcc3'
| ID |
77124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmcc3
|
| Ensembl Gene |
ENSMUSG00000020023 |
| Gene Name |
transmembrane and coiled coil domains 3 |
| Synonyms |
A230066D03Rik, LOC380656, C630016B22Rik |
| MMRRC Submission |
039019-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0840 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
94147811-94426818 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94414633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 143
(I143V)
|
| 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 benign
Transcript: ENSMUST00000065060
AA Change: I143V
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000063264
Gene: ENSMUSG00000020023
AA Change: I143V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
65 |
465 |
1.2e-160 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117460
AA Change: I112V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000112669
Gene: ENSMUSG00000020023
AA Change: I112V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
32 |
435 |
1.6e-176 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117929
AA Change: I112V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000112401
Gene: ENSMUSG00000020023
AA Change: I112V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
32 |
435 |
1.6e-176 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121471
AA Change: I112V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000113122
Gene: ENSMUSG00000020023
AA Change: I112V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
32 |
435 |
1.6e-176 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132743
AA Change: I112V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000119751
Gene: ENSMUSG00000020023
AA Change: I112V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tmemb_cc2
|
47 |
134 |
3.3e-44 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146744
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148823
AA Change: I112V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000119496
Gene: ENSMUSG00000020023
AA Change: I112V
| 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 |
|
| Meta Mutation Damage Score |
0.1030 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.1%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
C |
G |
12: 71,205,657 (GRCm39) |
Q434E |
probably benign |
Het |
| A930011G23Rik |
T |
C |
5: 99,382,547 (GRCm39) |
T234A |
probably benign |
Het |
| Acot5 |
G |
A |
12: 84,122,614 (GRCm39) |
W399* |
probably null |
Het |
| Adra1a |
A |
G |
14: 66,965,159 (GRCm39) |
E383G |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,982,427 (GRCm39) |
I1237N |
probably damaging |
Het |
| Bsg |
A |
G |
10: 79,545,519 (GRCm39) |
T28A |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,243,150 (GRCm39) |
I436F |
possibly damaging |
Het |
| Cd109 |
T |
C |
9: 78,571,612 (GRCm39) |
I417T |
probably benign |
Het |
| Cep295 |
A |
T |
9: 15,245,611 (GRCm39) |
D948E |
probably benign |
Het |
| Cfap92 |
G |
T |
6: 87,657,260 (GRCm39) |
|
noncoding transcript |
Het |
| Clcn3 |
C |
A |
8: 61,382,188 (GRCm39) |
V467F |
probably benign |
Het |
| Cntnap3 |
T |
C |
13: 64,935,724 (GRCm39) |
S380G |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dll4 |
T |
A |
2: 119,156,966 (GRCm39) |
N79K |
probably benign |
Het |
| Ep300 |
A |
T |
15: 81,529,134 (GRCm39) |
N1558I |
unknown |
Het |
| Fblim1 |
A |
G |
4: 141,308,320 (GRCm39) |
F330L |
possibly damaging |
Het |
| Fbxo46 |
T |
A |
7: 18,871,073 (GRCm39) |
M564K |
possibly damaging |
Het |
| Fnip1 |
T |
A |
11: 54,384,007 (GRCm39) |
|
probably benign |
Het |
| Foxl2 |
A |
T |
9: 98,837,984 (GRCm39) |
K91* |
probably null |
Het |
| Gapvd1 |
C |
A |
2: 34,619,125 (GRCm39) |
V83F |
probably benign |
Het |
| Guk1 |
G |
A |
11: 59,075,921 (GRCm39) |
R146C |
probably damaging |
Het |
| Irf8 |
G |
A |
8: 121,480,220 (GRCm39) |
G153S |
probably benign |
Het |
| Kcnu1 |
T |
A |
8: 26,403,712 (GRCm39) |
M1K |
probably null |
Het |
| Krt32 |
G |
A |
11: 99,972,068 (GRCm39) |
P427S |
probably benign |
Het |
| Lrp12 |
A |
G |
15: 39,739,554 (GRCm39) |
S529P |
probably damaging |
Het |
| Mettl22 |
T |
C |
16: 8,300,021 (GRCm39) |
V134A |
probably damaging |
Het |
| Morc2b |
G |
T |
17: 33,355,086 (GRCm39) |
H895Q |
probably benign |
Het |
| Nrros |
T |
C |
16: 31,962,241 (GRCm39) |
D556G |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 90,298,567 (GRCm39) |
S1367G |
possibly damaging |
Het |
| Or10al7 |
A |
G |
17: 38,366,463 (GRCm39) |
F7S |
probably benign |
Het |
| Or56b1b |
A |
T |
7: 108,164,823 (GRCm39) |
S60T |
probably benign |
Het |
| Pcnx3 |
T |
A |
19: 5,735,729 (GRCm39) |
|
probably null |
Het |
| Pgap2 |
A |
T |
7: 101,886,655 (GRCm39) |
M226L |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,841,798 (GRCm39) |
I616M |
probably damaging |
Het |
| Pisd |
A |
G |
5: 32,894,656 (GRCm39) |
I380T |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,420,745 (GRCm39) |
I2454V |
probably damaging |
Het |
| Plpp2 |
A |
G |
10: 79,363,378 (GRCm39) |
I151T |
probably benign |
Het |
| Polr3a |
G |
A |
14: 24,502,268 (GRCm39) |
T1295I |
possibly damaging |
Het |
| Pot1a |
T |
C |
6: 25,748,283 (GRCm39) |
|
probably benign |
Het |
| Prpf39 |
T |
G |
12: 65,094,980 (GRCm39) |
N219K |
probably benign |
Het |
| Rnf17 |
T |
A |
14: 56,712,904 (GRCm39) |
N790K |
probably damaging |
Het |
| Slit3 |
C |
T |
11: 35,514,263 (GRCm39) |
|
probably benign |
Het |
| Stx1a |
T |
A |
5: 135,070,088 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
C |
A |
8: 48,788,777 (GRCm39) |
V690F |
probably damaging |
Het |
| Tmem41b |
G |
A |
7: 109,580,256 (GRCm39) |
S36F |
probably damaging |
Het |
| Trim5 |
A |
T |
7: 103,914,978 (GRCm39) |
W364R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,617,155 (GRCm39) |
Y16403C |
probably damaging |
Het |
| Vps8 |
T |
C |
16: 21,275,071 (GRCm39) |
S210P |
probably damaging |
Het |
| Zbtb3 |
T |
A |
19: 8,780,821 (GRCm39) |
S145T |
possibly damaging |
Het |
| Zfp882 |
T |
A |
8: 72,668,530 (GRCm39) |
C452* |
probably null |
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 |
|
|
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 |
|
R8276:Tmcc3
|
UTSW |
10 |
94,418,170 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- AACTCAATGCGGACAGCCTGAGAC -3'
(R):5'- AGTGAGCAATGTTATCTGCACTGCC -3'
Sequencing Primer
(F):5'- TCTTAAAGGTGACGGAGCAG -3'
(R):5'- AGTTGGCAAACTCTCTGGAC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation