Incidental Mutation 'IGL02310:Tmcc2'
ID |
287771 |
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 # |
IGL02310
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
132284053-132319019 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 132286645 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 602
(I602N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038369
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045473]
[ENSMUST00000132435]
[ENSMUST00000142609]
|
AlphaFold |
Q80W04 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045473
AA Change: I602N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000038369 Gene: ENSMUSG00000042066 AA Change: I602N
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 damaging
Transcript: ENSMUST00000132435
AA Change: I524N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000118844 Gene: ENSMUSG00000042066 AA Change: I524N
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 damaging
Transcript: ENSMUST00000142609
AA Change: I367N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000115721 Gene: ENSMUSG00000042066 AA Change: I367N
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano4 |
T |
A |
10: 88,859,740 (GRCm39) |
K382* |
probably null |
Het |
Apoc2l |
A |
G |
7: 19,405,688 (GRCm39) |
*98Q |
probably null |
Het |
Bcl9l |
A |
G |
9: 44,420,602 (GRCm39) |
Y1299C |
probably damaging |
Het |
Best1 |
T |
A |
19: 9,966,516 (GRCm39) |
H357L |
probably benign |
Het |
Cdc26 |
T |
C |
4: 62,313,266 (GRCm39) |
|
probably benign |
Het |
Esyt2 |
C |
T |
12: 116,329,541 (GRCm39) |
L700F |
probably benign |
Het |
Fkbp15 |
T |
C |
4: 62,258,553 (GRCm39) |
Y138C |
probably damaging |
Het |
Gbp6 |
T |
C |
5: 105,438,841 (GRCm39) |
N16D |
probably benign |
Het |
Hecw2 |
T |
C |
1: 53,963,075 (GRCm39) |
D812G |
probably null |
Het |
Hic2 |
G |
A |
16: 17,075,621 (GRCm39) |
R150Q |
probably damaging |
Het |
Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
Klhl36 |
T |
A |
8: 120,596,356 (GRCm39) |
|
probably null |
Het |
Matcap2 |
A |
G |
9: 22,335,724 (GRCm39) |
Y114C |
probably benign |
Het |
Mug2 |
C |
T |
6: 122,036,082 (GRCm39) |
|
probably benign |
Het |
Or9s14 |
T |
C |
1: 92,535,787 (GRCm39) |
V76A |
possibly damaging |
Het |
Pdcl2 |
A |
T |
5: 76,465,728 (GRCm39) |
I116N |
probably damaging |
Het |
Pip4p1 |
T |
C |
14: 51,166,667 (GRCm39) |
T187A |
possibly damaging |
Het |
Pkn2 |
A |
G |
3: 142,517,341 (GRCm39) |
I482T |
probably damaging |
Het |
Prss53 |
T |
G |
7: 127,485,786 (GRCm39) |
D518A |
probably benign |
Het |
Psme4 |
A |
G |
11: 30,787,484 (GRCm39) |
D1093G |
probably benign |
Het |
Ttn |
C |
T |
2: 76,619,035 (GRCm39) |
V16115I |
possibly damaging |
Het |
Zbtb21 |
G |
T |
16: 97,752,990 (GRCm39) |
T459K |
possibly damaging |
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 |
|
IGL01991:Tmcc2
|
APN |
1 |
132,288,830 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02259:Tmcc2
|
APN |
1 |
132,288,898 (GRCm39) |
missense |
probably benign |
|
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 |
2015-04-16 |