Incidental Mutation 'R5204:Tmem30c'
| ID |
398380 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem30c
|
| Ensembl Gene |
ENSMUSG00000022753 |
| Gene Name |
transmembrane protein 30C |
| Synonyms |
4933401B01Rik, 4933409A18Rik |
| MMRRC Submission |
042779-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R5204 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
57086502-57113228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57090385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 274
(N274S)
|
| 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: N274S
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000023434
Gene: ENSMUSG00000022753
AA Change: N274S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDC50
|
54 |
339 |
2.7e-84 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119407
AA Change: N274S
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000112989
Gene: ENSMUSG00000022753
AA Change: N274S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDC50
|
53 |
340 |
2.6e-89 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120112
AA Change: N274S
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113896
Gene: ENSMUSG00000022753
AA Change: N274S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDC50
|
53 |
283 |
9.9e-68 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231600
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
A |
T |
11: 101,297,752 (GRCm39) |
L532Q |
probably damaging |
Het |
| Abt1 |
G |
A |
13: 23,606,838 (GRCm39) |
R88C |
probably damaging |
Het |
| Aopep |
G |
A |
13: 63,180,904 (GRCm39) |
V289I |
probably benign |
Het |
| Arhgef7 |
T |
A |
8: 11,850,775 (GRCm39) |
L129* |
probably null |
Het |
| Arid1b |
T |
C |
17: 5,393,316 (GRCm39) |
V2282A |
probably damaging |
Het |
| Bivm |
G |
C |
1: 44,177,738 (GRCm39) |
G346A |
probably damaging |
Het |
| Cav1 |
T |
C |
6: 17,339,254 (GRCm39) |
L102P |
probably damaging |
Het |
| Ccdc57 |
A |
G |
11: 120,776,888 (GRCm39) |
V504A |
possibly damaging |
Het |
| Cd7 |
A |
T |
11: 120,928,860 (GRCm39) |
|
probably null |
Het |
| Cdh3 |
T |
C |
8: 107,270,871 (GRCm39) |
V508A |
probably benign |
Het |
| Chrd |
A |
T |
16: 20,554,822 (GRCm39) |
I413F |
probably benign |
Het |
| Clec4b1 |
T |
A |
6: 123,048,494 (GRCm39) |
*210R |
probably null |
Het |
| Clock |
A |
T |
5: 76,391,017 (GRCm39) |
|
probably null |
Het |
| Col4a2 |
T |
A |
8: 11,448,651 (GRCm39) |
|
probably null |
Het |
| Gpx7 |
T |
C |
4: 108,260,512 (GRCm39) |
T95A |
probably benign |
Het |
| Hivep3 |
T |
A |
4: 119,961,053 (GRCm39) |
|
probably null |
Het |
| Hrc |
A |
G |
7: 44,985,128 (GRCm39) |
Y93C |
possibly damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Klhl5 |
G |
T |
5: 65,288,781 (GRCm39) |
L14F |
possibly damaging |
Het |
| Mcm6 |
A |
G |
1: 128,261,375 (GRCm39) |
L743P |
probably benign |
Het |
| Nrxn1 |
A |
T |
17: 90,469,792 (GRCm39) |
F57Y |
probably damaging |
Het |
| Or51af1 |
C |
T |
7: 103,141,747 (GRCm39) |
V113M |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdh20 |
G |
T |
14: 88,706,351 (GRCm39) |
D316E |
probably damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,569,142 (GRCm39) |
V96E |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,176,909 (GRCm39) |
L346M |
possibly damaging |
Het |
| Pkhd1l1 |
A |
C |
15: 44,410,437 (GRCm39) |
N2648T |
possibly damaging |
Het |
| Rufy1 |
C |
T |
11: 50,297,261 (GRCm39) |
R397Q |
probably damaging |
Het |
| Sema5a |
G |
T |
15: 32,686,793 (GRCm39) |
M968I |
probably benign |
Het |
| Slc33a1 |
A |
G |
3: 63,871,167 (GRCm39) |
Y149H |
probably damaging |
Het |
| Tln2 |
T |
A |
9: 67,261,764 (GRCm39) |
R658S |
probably benign |
Het |
| Tor3a |
A |
G |
1: 156,483,270 (GRCm39) |
L384P |
probably damaging |
Het |
| Trpm3 |
T |
A |
19: 22,425,705 (GRCm39) |
L20* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,560,556 (GRCm39) |
I20955F |
probably damaging |
Het |
| Usp15 |
A |
T |
10: 122,949,545 (GRCm39) |
S908R |
probably benign |
Het |
| Zfp866 |
A |
G |
8: 70,218,690 (GRCm39) |
L310P |
probably 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 |
|
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 |
|
R6359:Tmem30c
|
UTSW |
16 |
57,096,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TGCCATCAGGAATCTGCAC -3'
(R):5'- ACTGGGCCAAACCTATCTATG -3'
Sequencing Primer
(F):5'- TCTTGGGAGGGTTCCAAAATAC -3'
(R):5'- TGGGCCAAACCTATCTATGAACTGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation