Incidental Mutation 'R6359:Tmem30c'
| ID |
514204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem30c
|
| Ensembl Gene |
ENSMUSG00000022753 |
| Gene Name |
transmembrane protein 30C |
| Synonyms |
4933401B01Rik, 4933409A18Rik |
| MMRRC Submission |
044509-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6359 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
57086502-57113228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57096513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 203
(S203T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023434]
[ENSMUST00000119407]
[ENSMUST00000120112]
|
| AlphaFold |
Q9D4D7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023434
AA Change: S203T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023434
Gene: ENSMUSG00000022753
AA Change: S203T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDC50
|
54 |
339 |
2.7e-84 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119407
AA Change: S203T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112989
Gene: ENSMUSG00000022753
AA Change: S203T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDC50
|
53 |
340 |
2.6e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120112
AA Change: S203T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113896
Gene: ENSMUSG00000022753
AA Change: S203T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDC50
|
53 |
283 |
9.9e-68 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180871
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asic5 |
A |
T |
3: 81,911,803 (GRCm39) |
D133V |
possibly damaging |
Het |
| Atp11b |
A |
G |
3: 35,832,210 (GRCm39) |
I22V |
probably benign |
Het |
| Ccdc18 |
C |
T |
5: 108,283,391 (GRCm39) |
T34I |
probably damaging |
Het |
| Ces2a |
A |
G |
8: 105,462,710 (GRCm39) |
I100V |
probably benign |
Het |
| Ddi2 |
T |
A |
4: 141,411,899 (GRCm39) |
T338S |
probably damaging |
Het |
| Dync1li1 |
A |
G |
9: 114,542,638 (GRCm39) |
I267V |
probably benign |
Het |
| Eif1ad14 |
G |
A |
12: 87,886,275 (GRCm39) |
T118M |
probably benign |
Het |
| Fbxo10 |
A |
T |
4: 45,041,796 (GRCm39) |
V637E |
possibly damaging |
Het |
| Gak |
T |
C |
5: 108,719,766 (GRCm39) |
E458G |
probably damaging |
Het |
| Glp1r |
G |
T |
17: 31,148,946 (GRCm39) |
V287F |
probably damaging |
Het |
| Gsdmc2 |
T |
C |
15: 63,696,866 (GRCm39) |
E435G |
probably damaging |
Het |
| Hsd11b1 |
T |
A |
1: 192,924,660 (GRCm39) |
|
probably benign |
Het |
| Igkv13-84 |
T |
G |
6: 68,916,592 (GRCm39) |
F3V |
probably benign |
Het |
| Igsf9b |
C |
A |
9: 27,220,895 (GRCm39) |
A87E |
probably benign |
Het |
| Ints1 |
G |
T |
5: 139,741,972 (GRCm39) |
L1796I |
probably benign |
Het |
| Ipo8 |
A |
G |
6: 148,678,748 (GRCm39) |
L950P |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,837,775 (GRCm39) |
D931G |
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,332,715 (GRCm39) |
E327G |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,185,608 (GRCm39) |
Y1369C |
probably damaging |
Het |
| Mapk3 |
A |
G |
7: 126,359,928 (GRCm39) |
T67A |
probably benign |
Het |
| Mrpl4 |
T |
A |
9: 20,919,030 (GRCm39) |
V225E |
probably damaging |
Het |
| Ncln |
C |
T |
10: 81,326,118 (GRCm39) |
G278S |
probably damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,439,392 (GRCm39) |
R323Q |
probably damaging |
Het |
| Nol8 |
A |
G |
13: 49,817,546 (GRCm39) |
D774G |
probably benign |
Het |
| Or11i1 |
A |
T |
3: 106,729,731 (GRCm39) |
I48N |
probably damaging |
Het |
| Or52p1 |
T |
C |
7: 104,267,510 (GRCm39) |
V208A |
probably damaging |
Het |
| Plekha8 |
G |
T |
6: 54,590,104 (GRCm39) |
C23F |
probably damaging |
Het |
| Prkag1 |
T |
C |
15: 98,712,433 (GRCm39) |
Y133C |
probably damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,850,920 (GRCm39) |
S403P |
probably benign |
Het |
| Spata31d1c |
A |
T |
13: 65,183,406 (GRCm39) |
N316I |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,569,300 (GRCm39) |
N18871H |
possibly damaging |
Het |
|
| Other mutations in Tmem30c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00514:Tmem30c
|
APN |
16 |
57,090,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01115:Tmem30c
|
APN |
16 |
57,096,480 (GRCm39) |
splice site |
probably benign |
|
|
IGL01574:Tmem30c
|
APN |
16 |
57,097,105 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL02060:Tmem30c
|
APN |
16 |
57,111,261 (GRCm39) |
missense |
probably benign |
|
|
IGL03243:Tmem30c
|
APN |
16 |
57,096,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0689:Tmem30c
|
UTSW |
16 |
57,090,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0699:Tmem30c
|
UTSW |
16 |
57,097,152 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0763:Tmem30c
|
UTSW |
16 |
57,090,539 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1353:Tmem30c
|
UTSW |
16 |
57,098,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1518:Tmem30c
|
UTSW |
16 |
57,086,855 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1707:Tmem30c
|
UTSW |
16 |
57,086,843 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1843:Tmem30c
|
UTSW |
16 |
57,097,143 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1865:Tmem30c
|
UTSW |
16 |
57,090,352 (GRCm39) |
splice site |
probably benign |
|
|
R2021:Tmem30c
|
UTSW |
16 |
57,101,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3419:Tmem30c
|
UTSW |
16 |
57,098,031 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5007:Tmem30c
|
UTSW |
16 |
57,086,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5204:Tmem30c
|
UTSW |
16 |
57,090,385 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5626:Tmem30c
|
UTSW |
16 |
57,096,506 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5863:Tmem30c
|
UTSW |
16 |
57,090,418 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5869:Tmem30c
|
UTSW |
16 |
57,086,925 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6133:Tmem30c
|
UTSW |
16 |
57,098,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6813:Tmem30c
|
UTSW |
16 |
57,101,622 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7268:Tmem30c
|
UTSW |
16 |
57,086,777 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7387:Tmem30c
|
UTSW |
16 |
57,090,386 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8236:Tmem30c
|
UTSW |
16 |
57,096,542 (GRCm39) |
missense |
probably null |
1.00 |
|
R8693:Tmem30c
|
UTSW |
16 |
57,086,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8794:Tmem30c
|
UTSW |
16 |
57,090,553 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9140:Tmem30c
|
UTSW |
16 |
57,090,482 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9629:Tmem30c
|
UTSW |
16 |
57,096,585 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9682:Tmem30c
|
UTSW |
16 |
57,111,180 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATGGTGGTGCCCAAGATG -3'
(R):5'- TTGAAAGGTGGCAAAATGACTACC -3'
Sequencing Primer
(F):5'- GCATACCCCACCCCTGG -3'
(R):5'- GTGGCAAAATGACTACCTAACATGTC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation