Incidental Mutation 'IGL03243:Tmem30c'
| ID |
414310 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem30c
|
| Ensembl Gene |
ENSMUSG00000022753 |
| Gene Name |
transmembrane protein 30C |
| Synonyms |
4933401B01Rik, 4933409A18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL03243
|
| Quality Score |
|
|
Status
|
|
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
T |
C |
8: 44,021,733 (GRCm39) |
T586A |
probably benign |
Het |
| Agtr1b |
T |
C |
3: 20,369,959 (GRCm39) |
T216A |
probably benign |
Het |
| Ankdd1a |
T |
C |
9: 65,408,752 (GRCm39) |
R505G |
probably benign |
Het |
| Anxa3 |
A |
T |
5: 96,976,551 (GRCm39) |
|
probably benign |
Het |
| Atp6v1c2 |
C |
T |
12: 17,339,122 (GRCm39) |
V210I |
probably benign |
Het |
| BC034090 |
G |
A |
1: 155,101,401 (GRCm39) |
P288S |
possibly damaging |
Het |
| Catsper2 |
T |
C |
2: 121,237,300 (GRCm39) |
H200R |
probably benign |
Het |
| Ceacam23 |
A |
T |
7: 17,652,574 (GRCm39) |
|
noncoding transcript |
Het |
| Cntnap5c |
G |
T |
17: 58,409,171 (GRCm39) |
A470S |
probably benign |
Het |
| Fcho2 |
G |
A |
13: 98,913,892 (GRCm39) |
|
probably benign |
Het |
| Frem1 |
A |
C |
4: 82,932,206 (GRCm39) |
L165R |
probably damaging |
Het |
| Gpn1 |
G |
A |
5: 31,668,175 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
T |
C |
11: 97,242,301 (GRCm39) |
N181S |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,070,509 (GRCm39) |
|
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,400,238 (GRCm39) |
N333S |
possibly damaging |
Het |
| Lrp5 |
T |
C |
19: 3,680,159 (GRCm39) |
T442A |
probably benign |
Het |
| Myo15a |
G |
T |
11: 60,387,344 (GRCm39) |
L722F |
probably damaging |
Het |
| Nlrp9c |
T |
G |
7: 26,064,457 (GRCm39) |
D957A |
probably damaging |
Het |
| Nup58 |
T |
A |
14: 60,459,065 (GRCm39) |
T521S |
probably benign |
Het |
| Or7e165 |
T |
G |
9: 19,694,564 (GRCm39) |
I45S |
probably damaging |
Het |
| Plek |
C |
A |
11: 16,945,319 (GRCm39) |
V4L |
possibly damaging |
Het |
| Sell |
T |
A |
1: 163,892,911 (GRCm39) |
H42Q |
possibly damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,533 (GRCm39) |
I702K |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,133,387 (GRCm39) |
I573V |
probably benign |
Het |
| Tgm1 |
T |
A |
14: 55,943,364 (GRCm39) |
I526F |
probably damaging |
Het |
| Tox |
T |
C |
4: 6,697,597 (GRCm39) |
N402S |
possibly damaging |
Het |
| Trav7d-4 |
C |
A |
14: 53,007,555 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
A |
T |
11: 115,958,670 (GRCm39) |
V784D |
probably benign |
Het |
| Vmn2r68 |
A |
G |
7: 84,882,963 (GRCm39) |
V263A |
possibly damaging |
Het |
| Zfp385c |
A |
T |
11: 100,525,573 (GRCm39) |
V56D |
probably damaging |
Het |
| Znrf2 |
A |
T |
6: 54,861,754 (GRCm39) |
I222L |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation