Incidental Mutation 'R5863:Tmem30c'
| ID |
454028 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem30c
|
| Ensembl Gene |
ENSMUSG00000022753 |
| Gene Name |
transmembrane protein 30C |
| Synonyms |
4933401B01Rik, 4933409A18Rik |
| MMRRC Submission |
043232-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R5863 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
57086502-57113228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57090418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 263
(V263A)
|
| 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: V263A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000023434
Gene: ENSMUSG00000022753
AA Change: V263A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDC50
|
54 |
339 |
2.7e-84 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119407
AA Change: V263A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112989
Gene: ENSMUSG00000022753
AA Change: V263A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDC50
|
53 |
340 |
2.6e-89 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120112
AA Change: V263A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000113896
Gene: ENSMUSG00000022753
AA Change: V263A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDC50
|
53 |
283 |
9.9e-68 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231600
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,580,287 (GRCm39) |
I204T |
possibly damaging |
Het |
| Abcc2 |
A |
G |
19: 43,786,575 (GRCm39) |
I136V |
probably benign |
Het |
| Adam6a |
T |
C |
12: 113,507,987 (GRCm39) |
I120T |
probably benign |
Het |
| Add3 |
C |
A |
19: 53,222,301 (GRCm39) |
L303I |
probably benign |
Het |
| Anln |
A |
G |
9: 22,249,280 (GRCm39) |
L149P |
probably damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,761,926 (GRCm39) |
E394G |
unknown |
Het |
| Asns |
G |
A |
6: 7,675,443 (GRCm39) |
Q520* |
probably null |
Het |
| Auh |
T |
G |
13: 53,052,694 (GRCm39) |
N141T |
probably benign |
Het |
| B3galt2 |
G |
A |
1: 143,522,104 (GRCm39) |
R80Q |
probably benign |
Het |
| Bcl9 |
T |
C |
3: 97,117,666 (GRCm39) |
T343A |
probably benign |
Het |
| C3 |
T |
A |
17: 57,530,141 (GRCm39) |
I487F |
probably benign |
Het |
| Cast |
T |
C |
13: 74,884,875 (GRCm39) |
K326E |
probably damaging |
Het |
| Ccdc185 |
T |
A |
1: 182,576,122 (GRCm39) |
H189L |
possibly damaging |
Het |
| Cep112 |
A |
G |
11: 108,497,058 (GRCm39) |
E51G |
probably damaging |
Het |
| Cpvl |
G |
A |
6: 53,850,413 (GRCm39) |
P475S |
probably damaging |
Het |
| Cstf2t |
G |
T |
19: 31,060,477 (GRCm39) |
L4F |
probably damaging |
Het |
| Dido1 |
A |
G |
2: 180,303,566 (GRCm39) |
V1446A |
probably benign |
Het |
| Dlg2 |
T |
A |
7: 91,360,987 (GRCm39) |
M35K |
probably benign |
Het |
| Dnah12 |
C |
T |
14: 26,576,878 (GRCm39) |
L3043F |
probably damaging |
Het |
| Fam135a |
A |
G |
1: 24,053,863 (GRCm39) |
S1225P |
possibly damaging |
Het |
| Fhod3 |
T |
C |
18: 25,258,810 (GRCm39) |
F1443S |
probably benign |
Het |
| Flacc1 |
G |
T |
1: 58,730,908 (GRCm39) |
H49Q |
probably benign |
Het |
| Gm14226 |
C |
A |
2: 154,866,211 (GRCm39) |
T56N |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,881,748 (GRCm39) |
R766W |
probably damaging |
Het |
| Kcnj8 |
T |
A |
6: 142,511,414 (GRCm39) |
I398F |
probably benign |
Het |
| Khdrbs1 |
G |
A |
4: 129,616,493 (GRCm39) |
R284C |
probably damaging |
Het |
| Nog |
A |
G |
11: 89,192,356 (GRCm39) |
L164P |
probably damaging |
Het |
| Or13a18 |
G |
A |
7: 140,190,544 (GRCm39) |
G155D |
probably damaging |
Het |
| Or8c20 |
T |
C |
9: 38,261,083 (GRCm39) |
S235P |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,590,434 (GRCm39) |
Q1771L |
possibly damaging |
Het |
| Prl3c1 |
T |
A |
13: 27,387,593 (GRCm39) |
*193K |
probably null |
Het |
| Prpf4b |
T |
A |
13: 35,083,111 (GRCm39) |
I829N |
possibly damaging |
Het |
| Rassf1 |
C |
T |
9: 107,435,023 (GRCm39) |
P103S |
probably damaging |
Het |
| Rdh16f2 |
A |
C |
10: 127,712,256 (GRCm39) |
I238L |
probably benign |
Het |
| Sdk2 |
G |
T |
11: 113,725,810 (GRCm39) |
D1146E |
probably damaging |
Het |
| Slc16a3 |
T |
C |
11: 120,848,779 (GRCm39) |
F412L |
probably benign |
Het |
| Slc24a1 |
T |
C |
9: 64,835,824 (GRCm39) |
T768A |
unknown |
Het |
| Stk32a |
A |
G |
18: 43,448,209 (GRCm39) |
N396S |
probably benign |
Het |
| Ston1 |
T |
C |
17: 88,943,373 (GRCm39) |
S260P |
possibly damaging |
Het |
| Tmem135 |
A |
G |
7: 88,797,176 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,587,102 (GRCm39) |
T21632S |
probably damaging |
Het |
| Ube2w |
A |
G |
1: 16,655,531 (GRCm39) |
I141T |
probably damaging |
Het |
| Zbtb47 |
A |
G |
9: 121,596,596 (GRCm39) |
S651G |
probably benign |
Het |
| Zscan20 |
A |
T |
4: 128,480,141 (GRCm39) |
C783* |
probably null |
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 |
|
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'- GCATTCCTACAAGACAAGCTG -3'
(R):5'- CTGAAGGGCGAACTGACTCTTC -3'
Sequencing Primer
(F):5'- TTCCTACAAGACAAGCTGTTTCAC -3'
(R):5'- GGGCGAACTGACTCTTCTCTGTC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation