Incidental Mutation 'IGL01991:Tmcc2'
ID |
182855 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmcc2
|
Ensembl Gene |
ENSMUSG00000042066 |
Gene Name |
transmembrane and coiled-coil domains 2 |
Synonyms |
1110063G11Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.128)
|
Stock # |
IGL01991
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
132284053-132319019 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 132288830 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 208
(I208V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118844
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045473]
[ENSMUST00000132435]
[ENSMUST00000142609]
|
AlphaFold |
Q80W04 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045473
AA Change: I286V
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000038369 Gene: ENSMUSG00000042066 AA Change: I286V
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
25 |
N/A |
INTRINSIC |
low complexity region
|
89 |
99 |
N/A |
INTRINSIC |
low complexity region
|
100 |
112 |
N/A |
INTRINSIC |
low complexity region
|
164 |
183 |
N/A |
INTRINSIC |
low complexity region
|
253 |
267 |
N/A |
INTRINSIC |
Pfam:Tmemb_cc2
|
283 |
694 |
6.3e-178 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125439
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132435
AA Change: I208V
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000118844 Gene: ENSMUSG00000042066 AA Change: I208V
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
low complexity region
|
22 |
34 |
N/A |
INTRINSIC |
low complexity region
|
86 |
105 |
N/A |
INTRINSIC |
low complexity region
|
175 |
189 |
N/A |
INTRINSIC |
Pfam:Tmemb_cc2
|
203 |
617 |
1.1e-193 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136828
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138717
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142609
AA Change: I51V
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000115721 Gene: ENSMUSG00000042066 AA Change: I51V
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
Pfam:Tmemb_cc2
|
46 |
460 |
2.2e-194 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
A |
T |
6: 146,854,608 (GRCm39) |
F145I |
probably benign |
Het |
Acot7 |
A |
G |
4: 152,307,536 (GRCm39) |
K152E |
possibly damaging |
Het |
Adamts13 |
G |
T |
2: 26,880,610 (GRCm39) |
G731V |
probably damaging |
Het |
Als2cl |
C |
T |
9: 110,721,985 (GRCm39) |
R584C |
probably benign |
Het |
Apba1 |
T |
A |
19: 23,914,836 (GRCm39) |
S679T |
possibly damaging |
Het |
Asxl3 |
G |
A |
18: 22,649,219 (GRCm39) |
V403I |
probably damaging |
Het |
Card11 |
T |
C |
5: 140,899,133 (GRCm39) |
T14A |
possibly damaging |
Het |
Creb1 |
T |
C |
1: 64,598,913 (GRCm39) |
F97L |
probably benign |
Het |
Crispld1 |
T |
A |
1: 17,823,241 (GRCm39) |
H407Q |
probably benign |
Het |
Crtac1 |
A |
T |
19: 42,402,560 (GRCm39) |
L16Q |
possibly damaging |
Het |
Cyp2c29 |
T |
C |
19: 39,318,759 (GRCm39) |
I452T |
probably damaging |
Het |
Dennd5b |
A |
T |
6: 148,982,322 (GRCm39) |
D95E |
probably damaging |
Het |
Dysf |
C |
T |
6: 84,090,600 (GRCm39) |
P1002L |
probably damaging |
Het |
Gm6878 |
G |
A |
14: 67,543,678 (GRCm39) |
|
probably benign |
Het |
Greb1 |
T |
C |
12: 16,749,682 (GRCm39) |
Y1048C |
probably damaging |
Het |
Iqcc |
T |
A |
4: 129,511,582 (GRCm39) |
E105V |
probably benign |
Het |
Lhx8 |
A |
G |
3: 154,030,191 (GRCm39) |
L116P |
probably damaging |
Het |
Lrrk2 |
A |
G |
15: 91,664,149 (GRCm39) |
D1962G |
probably damaging |
Het |
Map1b |
T |
A |
13: 99,566,077 (GRCm39) |
M2215L |
unknown |
Het |
Mapk8ip3 |
A |
T |
17: 25,146,835 (GRCm39) |
L136Q |
possibly damaging |
Het |
Mical3 |
T |
C |
6: 120,912,172 (GRCm39) |
N1896D |
probably damaging |
Het |
Mprip |
A |
G |
11: 59,645,838 (GRCm39) |
E674G |
probably damaging |
Het |
Or6b13 |
C |
T |
7: 139,782,345 (GRCm39) |
E113K |
probably damaging |
Het |
Or8j3 |
T |
C |
2: 86,028,877 (GRCm39) |
N73S |
probably benign |
Het |
Pdzrn4 |
T |
A |
15: 92,299,807 (GRCm39) |
|
probably null |
Het |
Pramel41 |
A |
T |
5: 94,593,705 (GRCm39) |
Q10L |
probably benign |
Het |
Prom1 |
T |
C |
5: 44,204,848 (GRCm39) |
T209A |
probably benign |
Het |
Prom2 |
C |
A |
2: 127,371,142 (GRCm39) |
C785F |
probably damaging |
Het |
Psg20 |
T |
C |
7: 18,418,350 (GRCm39) |
Q139R |
probably benign |
Het |
Rapgef6 |
T |
A |
11: 54,443,695 (GRCm39) |
C93S |
probably benign |
Het |
Rassf2 |
C |
T |
2: 131,842,352 (GRCm39) |
|
probably null |
Het |
Scn11a |
A |
G |
9: 119,648,970 (GRCm39) |
I31T |
probably damaging |
Het |
Slc4a5 |
A |
T |
6: 83,240,525 (GRCm39) |
D164V |
possibly damaging |
Het |
Slco3a1 |
T |
C |
7: 73,934,144 (GRCm39) |
D676G |
possibly damaging |
Het |
Traf4 |
T |
C |
11: 78,050,872 (GRCm39) |
D428G |
possibly damaging |
Het |
Trio |
T |
C |
15: 27,871,360 (GRCm39) |
I586V |
possibly damaging |
Het |
Unc80 |
T |
A |
1: 66,508,668 (GRCm39) |
C46* |
probably null |
Het |
Vmn2r89 |
A |
G |
14: 51,689,676 (GRCm39) |
N60D |
probably benign |
Het |
Wscd1 |
A |
T |
11: 71,678,549 (GRCm39) |
K391* |
probably null |
Het |
Wwc2 |
A |
T |
8: 48,322,901 (GRCm39) |
L400* |
probably null |
Het |
|
Other mutations in Tmcc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00816:Tmcc2
|
APN |
1 |
132,308,436 (GRCm39) |
missense |
probably benign |
|
IGL02259:Tmcc2
|
APN |
1 |
132,288,898 (GRCm39) |
missense |
probably benign |
|
IGL02310:Tmcc2
|
APN |
1 |
132,286,645 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02551:Tmcc2
|
APN |
1 |
132,285,317 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03301:Tmcc2
|
APN |
1 |
132,288,557 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03347:Tmcc2
|
APN |
1 |
132,285,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R0131:Tmcc2
|
UTSW |
1 |
132,308,444 (GRCm39) |
missense |
probably benign |
0.10 |
R0233:Tmcc2
|
UTSW |
1 |
132,288,389 (GRCm39) |
missense |
probably damaging |
0.99 |
R0233:Tmcc2
|
UTSW |
1 |
132,288,389 (GRCm39) |
missense |
probably damaging |
0.99 |
R1146:Tmcc2
|
UTSW |
1 |
132,285,493 (GRCm39) |
small deletion |
probably benign |
|
R1146:Tmcc2
|
UTSW |
1 |
132,285,493 (GRCm39) |
small deletion |
probably benign |
|
R1538:Tmcc2
|
UTSW |
1 |
132,308,718 (GRCm39) |
missense |
probably damaging |
0.98 |
R2428:Tmcc2
|
UTSW |
1 |
132,288,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R3907:Tmcc2
|
UTSW |
1 |
132,288,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R4890:Tmcc2
|
UTSW |
1 |
132,308,517 (GRCm39) |
missense |
probably benign |
0.43 |
R5364:Tmcc2
|
UTSW |
1 |
132,285,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R5567:Tmcc2
|
UTSW |
1 |
132,285,543 (GRCm39) |
missense |
probably benign |
0.01 |
R5596:Tmcc2
|
UTSW |
1 |
132,288,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R5916:Tmcc2
|
UTSW |
1 |
132,285,429 (GRCm39) |
missense |
probably damaging |
0.98 |
R5931:Tmcc2
|
UTSW |
1 |
132,285,493 (GRCm39) |
small deletion |
probably benign |
|
R6278:Tmcc2
|
UTSW |
1 |
132,286,720 (GRCm39) |
missense |
probably damaging |
0.99 |
R7404:Tmcc2
|
UTSW |
1 |
132,288,759 (GRCm39) |
missense |
probably damaging |
0.98 |
R7806:Tmcc2
|
UTSW |
1 |
132,288,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R7848:Tmcc2
|
UTSW |
1 |
132,288,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R7903:Tmcc2
|
UTSW |
1 |
132,288,199 (GRCm39) |
missense |
probably benign |
0.00 |
R9458:Tmcc2
|
UTSW |
1 |
132,286,747 (GRCm39) |
missense |
probably damaging |
1.00 |
RF012:Tmcc2
|
UTSW |
1 |
132,288,756 (GRCm39) |
missense |
probably damaging |
1.00 |
X0052:Tmcc2
|
UTSW |
1 |
132,288,071 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2014-05-07 |