Incidental Mutation 'R2428:Tmcc2'
| ID |
250294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmcc2
|
| Ensembl Gene |
ENSMUSG00000042066 |
| Gene Name |
transmembrane and coiled-coil domains 2 |
| Synonyms |
1110063G11Rik |
| MMRRC Submission |
040390-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R2428 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
132284053-132319019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 132288569 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 373
(V373M)
|
| 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: V373M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038369
Gene: ENSMUSG00000042066
AA Change: V373M
| 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: V295M
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118844
Gene: ENSMUSG00000042066
AA Change: V295M
| 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 |
possibly damaging
Transcript: ENSMUST00000142609
AA Change: V138M
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000115721
Gene: ENSMUSG00000042066
AA Change: V138M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
|
Pfam:Tmemb_cc2
|
46 |
460 |
2.2e-194 |
PFAM |
|
| Meta Mutation Damage Score |
0.1446 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
G |
A |
3: 36,145,072 (GRCm39) |
A624T |
probably benign |
Het |
| Astn1 |
C |
T |
1: 158,439,916 (GRCm39) |
A828V |
possibly damaging |
Het |
| Bag6 |
A |
C |
17: 35,366,151 (GRCm39) |
D1117A |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,509,533 (GRCm39) |
C3042S |
probably benign |
Het |
| Ctc1 |
G |
A |
11: 68,918,527 (GRCm39) |
V265I |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,480,961 (GRCm39) |
Y298C |
probably damaging |
Het |
| Dmtn |
G |
A |
14: 70,850,843 (GRCm39) |
R183W |
probably damaging |
Het |
| F2rl2 |
T |
A |
13: 95,833,585 (GRCm39) |
I5N |
possibly damaging |
Het |
| Gpr137c |
A |
G |
14: 45,516,420 (GRCm39) |
Y336C |
probably damaging |
Het |
| Gstm6 |
T |
A |
3: 107,850,922 (GRCm39) |
I10F |
possibly damaging |
Het |
| Hivep3 |
T |
A |
4: 119,955,705 (GRCm39) |
C1340* |
probably null |
Het |
| Igf1 |
A |
G |
10: 87,700,683 (GRCm39) |
T36A |
probably damaging |
Het |
| Lrch1 |
T |
A |
14: 75,044,985 (GRCm39) |
|
probably benign |
Het |
| Mrpl40 |
A |
T |
16: 18,691,125 (GRCm39) |
I195N |
probably damaging |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Ndufc1 |
A |
C |
3: 51,315,564 (GRCm39) |
|
probably null |
Het |
| Nfasc |
T |
C |
1: 132,523,392 (GRCm39) |
N973S |
possibly damaging |
Het |
| Or4f62 |
G |
A |
2: 111,986,787 (GRCm39) |
V164I |
probably benign |
Het |
| Or51a43 |
G |
A |
7: 103,717,675 (GRCm39) |
R188* |
probably null |
Het |
| Or6c212 |
T |
C |
10: 129,558,652 (GRCm39) |
I254V |
probably benign |
Het |
| Or9g19 |
A |
T |
2: 85,600,322 (GRCm39) |
Y59F |
probably damaging |
Het |
| Pkdrej |
C |
A |
15: 85,701,773 (GRCm39) |
E1388* |
probably null |
Het |
| Prrc2b |
T |
A |
2: 32,106,067 (GRCm39) |
D1482E |
probably benign |
Het |
| Relch |
C |
T |
1: 105,673,851 (GRCm39) |
S1080L |
possibly damaging |
Het |
| Sppl2a |
A |
T |
2: 126,754,615 (GRCm39) |
S403R |
possibly damaging |
Het |
| Tespa1 |
A |
G |
10: 130,197,944 (GRCm39) |
D322G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,644,517 (GRCm39) |
N13079S |
possibly damaging |
Het |
| Wdr53 |
A |
G |
16: 32,071,008 (GRCm39) |
I118V |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,344,774 (GRCm39) |
M1051T |
probably benign |
Het |
| Zfp784 |
G |
C |
7: 5,041,357 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTTCCATGGGGTCCTTCAGG -3'
(R):5'- CCTGAAGCTGGCCAACAATG -3'
Sequencing Primer
(F):5'- ACTGCCGAACTTGTTGCGAATG -3'
(R):5'- TGGCCAACAATGCGGAC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation