Incidental Mutation 'IGL00816:Tmcc2'
| ID |
14479 |
| 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: 0.098)
|
| Stock # |
IGL00816
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
132284053-132319019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 132308436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 153
(A153S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045473]
[ENSMUST00000132435]
|
| AlphaFold |
Q80W04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045473
AA Change: A231S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038369
Gene: ENSMUSG00000042066
AA Change: A231S
| 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 |
probably benign
Transcript: ENSMUST00000132435
AA Change: A153S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118844
Gene: ENSMUSG00000042066
AA Change: A153S
| 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: ENSMUST00000159257
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,545,322 (GRCm39) |
D5654E |
probably benign |
Het |
| Alg6 |
A |
G |
4: 99,630,598 (GRCm39) |
S146G |
probably null |
Het |
| Anks1 |
T |
C |
17: 28,278,367 (GRCm39) |
|
probably null |
Het |
| Bcor |
T |
C |
X: 11,904,059 (GRCm39) |
I1662V |
probably damaging |
Het |
| Bzw1 |
T |
C |
1: 58,438,213 (GRCm39) |
F98L |
probably damaging |
Het |
| Cdc14b |
A |
G |
13: 64,353,217 (GRCm39) |
V453A |
probably benign |
Het |
| Copg1 |
G |
T |
6: 87,870,880 (GRCm39) |
A228S |
possibly damaging |
Het |
| D1Pas1 |
A |
G |
1: 186,701,609 (GRCm39) |
I513V |
possibly damaging |
Het |
| Efemp1 |
G |
A |
11: 28,876,223 (GRCm39) |
V463M |
probably benign |
Het |
| Ep400 |
T |
A |
5: 110,883,356 (GRCm39) |
|
probably benign |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Fgd3 |
A |
G |
13: 49,418,262 (GRCm39) |
|
probably benign |
Het |
| Furin |
C |
A |
7: 80,042,315 (GRCm39) |
G427W |
probably damaging |
Het |
| Glycam1 |
T |
G |
15: 103,472,659 (GRCm39) |
D25A |
probably damaging |
Het |
| Gpr119 |
A |
G |
X: 47,763,047 (GRCm39) |
L30P |
probably damaging |
Het |
| Gria1 |
T |
A |
11: 57,208,568 (GRCm39) |
M752K |
possibly damaging |
Het |
| Mcph1 |
C |
T |
8: 18,682,413 (GRCm39) |
P517S |
possibly damaging |
Het |
| Mug1 |
T |
A |
6: 121,859,597 (GRCm39) |
Y1199N |
probably damaging |
Het |
| Myt1 |
A |
G |
2: 181,449,308 (GRCm39) |
D663G |
probably damaging |
Het |
| Ppp1r1c |
A |
T |
2: 79,540,241 (GRCm39) |
|
probably null |
Het |
| Rab1a |
C |
T |
11: 20,174,727 (GRCm39) |
T100M |
possibly damaging |
Het |
| Rfx6 |
A |
G |
10: 51,554,501 (GRCm39) |
K114R |
probably benign |
Het |
| Rmdn1 |
T |
C |
4: 19,595,119 (GRCm39) |
V177A |
probably benign |
Het |
| Setd5 |
T |
G |
6: 113,088,375 (GRCm39) |
L168V |
probably damaging |
Het |
| Slc25a10 |
A |
T |
11: 120,385,976 (GRCm39) |
|
probably benign |
Het |
| Slc38a7 |
A |
T |
8: 96,570,748 (GRCm39) |
I252N |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Taar8c |
A |
T |
10: 23,977,173 (GRCm39) |
I213N |
probably damaging |
Het |
| Tagln3 |
A |
T |
16: 45,544,556 (GRCm39) |
C38* |
probably null |
Het |
| Tuft1 |
A |
T |
3: 94,523,138 (GRCm39) |
I291N |
probably damaging |
Het |
| Vmn2r10 |
T |
A |
5: 109,150,451 (GRCm39) |
M198L |
possibly damaging |
Het |
| Vps13d |
T |
A |
4: 144,882,564 (GRCm39) |
M1004L |
probably benign |
Het |
| Wfdc3 |
T |
C |
2: 164,584,945 (GRCm39) |
|
probably benign |
Het |
| Wfikkn2 |
G |
A |
11: 94,128,921 (GRCm39) |
Q407* |
probably null |
Het |
| Zfp106 |
T |
C |
2: 120,357,329 (GRCm39) |
I1189V |
probably benign |
Het |
| Zic2 |
T |
A |
14: 122,715,971 (GRCm39) |
C364* |
probably null |
Het |
|
| Other mutations in Tmcc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01991:Tmcc2
|
APN |
1 |
132,288,830 (GRCm39) |
missense |
probably benign |
0.25 |
|
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 |
2012-12-06 |
Incidental Mutation