Incidental Mutation 'R6133:Tmem30c'
| ID |
487252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem30c
|
| Ensembl Gene |
ENSMUSG00000022753 |
| Gene Name |
transmembrane protein 30C |
| Synonyms |
4933401B01Rik, 4933409A18Rik |
| MMRRC Submission |
044280-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6133 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
57086502-57113228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57098100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 107
(Y107C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023434]
[ENSMUST00000119407]
[ENSMUST00000120112]
|
| AlphaFold |
Q9D4D7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023434
AA Change: Y107C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023434
Gene: ENSMUSG00000022753
AA Change: Y107C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDC50
|
54 |
339 |
2.7e-84 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119407
AA Change: Y107C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112989
Gene: ENSMUSG00000022753
AA Change: Y107C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDC50
|
53 |
340 |
2.6e-89 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120112
AA Change: Y107C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113896
Gene: ENSMUSG00000022753
AA Change: Y107C
| 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: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
A |
G |
8: 89,052,067 (GRCm39) |
T912A |
possibly damaging |
Het |
| Akap12 |
G |
T |
10: 4,305,178 (GRCm39) |
G663C |
probably benign |
Het |
| Ankhd1 |
T |
C |
18: 36,758,179 (GRCm39) |
S958P |
possibly damaging |
Het |
| Cmtm2a |
T |
C |
8: 105,019,362 (GRCm39) |
I76V |
probably benign |
Het |
| Cpxm2 |
G |
A |
7: 131,730,182 (GRCm39) |
P146S |
probably damaging |
Het |
| Cubn |
A |
G |
2: 13,313,429 (GRCm39) |
V3047A |
probably benign |
Het |
| Dgkd |
T |
A |
1: 87,865,962 (GRCm39) |
V198E |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,685,469 (GRCm39) |
M181K |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,458,814 (GRCm39) |
T3775A |
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,723,146 (GRCm39) |
I391V |
probably benign |
Het |
| Ebi3 |
T |
A |
17: 56,261,311 (GRCm39) |
V69E |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,636,886 (GRCm39) |
T1998A |
probably damaging |
Het |
| Frmpd1 |
T |
A |
4: 45,284,915 (GRCm39) |
H1245Q |
probably benign |
Het |
| Gm7145 |
T |
A |
1: 117,913,618 (GRCm39) |
C167S |
probably damaging |
Het |
| Hydin |
C |
T |
8: 111,327,908 (GRCm39) |
T4805I |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kcnma1 |
C |
T |
14: 24,053,936 (GRCm39) |
M21I |
probably damaging |
Het |
| Lrfn5 |
A |
G |
12: 61,890,574 (GRCm39) |
D621G |
probably benign |
Het |
| Lrrc15 |
C |
T |
16: 30,093,054 (GRCm39) |
G95D |
probably benign |
Het |
| Mex3d |
A |
G |
10: 80,222,620 (GRCm39) |
L212P |
probably damaging |
Het |
| Mmel1 |
C |
T |
4: 154,979,475 (GRCm39) |
H728Y |
probably damaging |
Het |
| Naip1 |
A |
G |
13: 100,581,151 (GRCm39) |
V32A |
probably benign |
Het |
| Nsl1 |
T |
C |
1: 190,803,403 (GRCm39) |
L158P |
probably damaging |
Het |
| Or51q1c |
A |
T |
7: 103,652,532 (GRCm39) |
T17S |
possibly damaging |
Het |
| Or6c202 |
G |
A |
10: 128,996,752 (GRCm39) |
L34F |
possibly damaging |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Pakap |
C |
T |
4: 57,855,516 (GRCm39) |
Q525* |
probably null |
Het |
| Pcdh15 |
A |
T |
10: 74,481,805 (GRCm39) |
|
probably null |
Het |
| Pramel15 |
T |
C |
4: 144,104,347 (GRCm39) |
R53G |
possibly damaging |
Het |
| Ptpn1 |
T |
C |
2: 167,809,716 (GRCm39) |
V108A |
possibly damaging |
Het |
| Rad9b |
T |
C |
5: 122,477,831 (GRCm39) |
N182D |
possibly damaging |
Het |
| Rp1l1 |
C |
T |
14: 64,267,545 (GRCm39) |
P1044S |
probably damaging |
Het |
| Scn2a |
G |
A |
2: 65,573,448 (GRCm39) |
V1433I |
probably benign |
Het |
| Ssrp1 |
T |
G |
2: 84,875,683 (GRCm39) |
|
probably benign |
Het |
| Suco |
T |
A |
1: 161,662,752 (GRCm39) |
K560* |
probably null |
Het |
| Tbx3 |
T |
C |
5: 119,819,018 (GRCm39) |
V531A |
probably benign |
Het |
| Topbp1 |
T |
A |
9: 103,188,963 (GRCm39) |
|
probably null |
Het |
| Trpm5 |
A |
T |
7: 142,642,688 (GRCm39) |
D86E |
probably damaging |
Het |
| Urb2 |
C |
T |
8: 124,755,300 (GRCm39) |
Q336* |
probably null |
Het |
| Vmn2r43 |
A |
G |
7: 8,247,970 (GRCm39) |
F731S |
probably damaging |
Het |
| Xkr9 |
A |
G |
1: 13,754,359 (GRCm39) |
T118A |
probably benign |
Het |
| Zcchc2 |
A |
C |
1: 105,947,609 (GRCm39) |
K117N |
probably damaging |
Het |
| Zfp52 |
T |
C |
17: 21,780,733 (GRCm39) |
Y194H |
probably damaging |
Het |
| Zfp763 |
C |
T |
17: 33,237,675 (GRCm39) |
C490Y |
possibly damaging |
Het |
| Zmynd19 |
G |
T |
2: 24,848,131 (GRCm39) |
R148L |
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 |
|
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'- ACTTAGATGCTGAGGCCCAC -3'
(R):5'- TGAATGTATTGAAACCACACAGCC -3'
Sequencing Primer
(F):5'- ACCCCATGCCTGTCTTTTAGATGG -3'
(R):5'- GCTACTCAGAGAGATGCTGTC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation