Incidental Mutation 'IGL03348:Tmcc3'
ID |
419561 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmcc3
|
Ensembl Gene |
ENSMUSG00000020023 |
Gene Name |
transmembrane and coiled coil domains 3 |
Synonyms |
A230066D03Rik, LOC380656, C630016B22Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03348
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
94147811-94426818 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 94414942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 215
(V215M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113122
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065060]
[ENSMUST00000117460]
[ENSMUST00000117929]
[ENSMUST00000121471]
[ENSMUST00000132743]
[ENSMUST00000148823]
[ENSMUST00000148910]
|
AlphaFold |
Q8R310 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065060
AA Change: V246M
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000063264 Gene: ENSMUSG00000020023 AA Change: V246M
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_cc2
|
65 |
465 |
1.2e-160 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117460
AA Change: V215M
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000112669 Gene: ENSMUSG00000020023 AA Change: V215M
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_cc2
|
32 |
435 |
1.6e-176 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117929
AA Change: V215M
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000112401 Gene: ENSMUSG00000020023 AA Change: V215M
Domain | Start | End | E-Value | Type |
Pfam:Tmemb_cc2
|
32 |
435 |
1.6e-176 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121471
AA Change: V215M
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000113122 Gene: ENSMUSG00000020023 AA Change: V215M
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 |
noncoding transcript
Transcript: ENSMUST00000146744
|
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A330008L17Rik |
A |
C |
8: 100,148,324 (GRCm39) |
|
noncoding transcript |
Het |
Actmap |
T |
G |
7: 26,896,545 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
T |
C |
13: 81,647,177 (GRCm39) |
N3121S |
possibly damaging |
Het |
Aldh16a1 |
C |
T |
7: 44,791,399 (GRCm39) |
R102Q |
possibly damaging |
Het |
Atp9b |
A |
T |
18: 80,879,637 (GRCm39) |
I346K |
possibly damaging |
Het |
Baiap2l1 |
T |
C |
5: 144,215,341 (GRCm39) |
K388R |
probably benign |
Het |
Cfap65 |
A |
C |
1: 74,966,778 (GRCm39) |
I303S |
probably damaging |
Het |
Chd5 |
C |
T |
4: 152,461,142 (GRCm39) |
P1244L |
probably damaging |
Het |
Col12a1 |
A |
G |
9: 79,600,712 (GRCm39) |
S791P |
possibly damaging |
Het |
Ctsz |
T |
A |
2: 174,270,490 (GRCm39) |
I231F |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,965,960 (GRCm39) |
T2431A |
probably damaging |
Het |
Eif4b |
T |
C |
15: 102,001,466 (GRCm39) |
|
probably benign |
Het |
Epha4 |
T |
C |
1: 77,483,809 (GRCm39) |
I67V |
possibly damaging |
Het |
Exoc1 |
T |
A |
5: 76,683,440 (GRCm39) |
V55D |
probably damaging |
Het |
Exosc8 |
A |
T |
3: 54,640,143 (GRCm39) |
D72E |
possibly damaging |
Het |
F5 |
C |
T |
1: 164,021,721 (GRCm39) |
P1399S |
possibly damaging |
Het |
Fmo1 |
T |
A |
1: 162,677,720 (GRCm39) |
N132I |
possibly damaging |
Het |
Fndc1 |
T |
A |
17: 7,991,479 (GRCm39) |
H739L |
unknown |
Het |
Glb1l2 |
T |
C |
9: 26,676,976 (GRCm39) |
D415G |
probably benign |
Het |
Gphn |
T |
A |
12: 78,673,893 (GRCm39) |
H498Q |
probably damaging |
Het |
Lrrc56 |
A |
G |
7: 140,787,153 (GRCm39) |
N342S |
probably benign |
Het |
Mbnl3 |
G |
A |
X: 50,253,425 (GRCm39) |
T16I |
probably damaging |
Het |
Mrps5 |
T |
G |
2: 127,443,305 (GRCm39) |
H294Q |
probably damaging |
Het |
Neu4 |
A |
G |
1: 93,952,696 (GRCm39) |
Y355C |
possibly damaging |
Het |
Obscn |
A |
T |
11: 58,941,188 (GRCm39) |
D5105E |
probably damaging |
Het |
Or4ac1-ps1 |
T |
C |
2: 88,370,485 (GRCm39) |
|
noncoding transcript |
Het |
Or4f56 |
C |
A |
2: 111,703,493 (GRCm39) |
A236S |
probably damaging |
Het |
Or4k15b |
A |
G |
14: 50,272,212 (GRCm39) |
I216T |
probably benign |
Het |
Or5p73 |
A |
G |
7: 108,064,615 (GRCm39) |
D28G |
probably benign |
Het |
Parp1 |
T |
A |
1: 180,405,272 (GRCm39) |
|
probably benign |
Het |
Plac1 |
A |
T |
X: 52,159,517 (GRCm39) |
N64K |
probably damaging |
Het |
Plcd1 |
C |
A |
9: 118,901,558 (GRCm39) |
K655N |
possibly damaging |
Het |
Psme4 |
T |
C |
11: 30,826,796 (GRCm39) |
S1772P |
probably damaging |
Het |
Shcbp1 |
C |
T |
8: 4,815,089 (GRCm39) |
V130I |
probably benign |
Het |
Slc25a11 |
T |
C |
11: 70,536,170 (GRCm39) |
|
probably benign |
Het |
Svep1 |
C |
T |
4: 58,113,635 (GRCm39) |
G1004E |
probably damaging |
Het |
Tars2 |
T |
C |
3: 95,647,580 (GRCm39) |
|
probably null |
Het |
Tbc1d12 |
C |
T |
19: 38,905,064 (GRCm39) |
T593I |
probably damaging |
Het |
Tcerg1l |
T |
A |
7: 137,815,100 (GRCm39) |
E526D |
probably damaging |
Het |
Trappc8 |
T |
C |
18: 20,985,838 (GRCm39) |
D601G |
probably damaging |
Het |
Trp53bp2 |
T |
A |
1: 182,281,313 (GRCm39) |
N971K |
probably damaging |
Het |
Ube2g2 |
A |
T |
10: 77,466,711 (GRCm39) |
E36D |
probably benign |
Het |
Uggt2 |
T |
A |
14: 119,308,300 (GRCm39) |
R360S |
probably benign |
Het |
Utp20 |
A |
G |
10: 88,594,179 (GRCm39) |
V2182A |
probably benign |
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 |
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 |
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 |
|
Posted On |
2016-08-02 |