Incidental Mutation 'IGL01317:Tmem63c'
| ID |
73918 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem63c
|
| Ensembl Gene |
ENSMUSG00000034145 |
| Gene Name |
transmembrane protein 63c |
| Synonyms |
9330187M14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
IGL01317
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
87068114-87136817 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 87118770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110187]
[ENSMUST00000131878]
[ENSMUST00000146292]
[ENSMUST00000154801]
|
| AlphaFold |
Q8CBX0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110187
|
| SMART Domains |
Protein: ENSMUSP00000105816
Gene: ENSMUSG00000034145
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RSN1_TM
|
35 |
204 |
9.5e-21 |
PFAM |
|
Pfam:DUF4463
|
253 |
323 |
6.1e-16 |
PFAM |
|
Pfam:DUF221
|
341 |
680 |
8.9e-89 |
PFAM |
|
transmembrane domain
|
682 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
737 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119807
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131878
|
| SMART Domains |
Protein: ENSMUSP00000117023
Gene: ENSMUSG00000034145
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RSN1_TM
|
35 |
204 |
9.5e-21 |
PFAM |
|
Pfam:DUF4463
|
253 |
323 |
6.1e-16 |
PFAM |
|
Pfam:DUF221
|
341 |
680 |
8.9e-89 |
PFAM |
|
transmembrane domain
|
682 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
737 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146292
|
| SMART Domains |
Protein: ENSMUSP00000119872
Gene: ENSMUSG00000034145
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RSN1_TM
|
35 |
204 |
1.6e-20 |
PFAM |
|
Pfam:PHM7_cyt
|
253 |
323 |
6e-12 |
PFAM |
|
Pfam:RSN1_7TM
|
341 |
680 |
2.5e-88 |
PFAM |
|
transmembrane domain
|
682 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
737 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154801
|
| SMART Domains |
Protein: ENSMUSP00000119898
Gene: ENSMUSG00000034145
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RSN1_TM
|
35 |
179 |
1.6e-16 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,362,597 (GRCm39) |
D609E |
probably damaging |
Het |
| Aldh3b1 |
T |
C |
19: 3,968,104 (GRCm39) |
I352V |
probably benign |
Het |
| Apeh |
A |
T |
9: 107,963,406 (GRCm39) |
S605R |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,168,260 (GRCm39) |
K748E |
probably benign |
Het |
| Avpr1a |
T |
C |
10: 122,285,472 (GRCm39) |
S255P |
probably benign |
Het |
| Cadps2 |
T |
A |
6: 23,314,172 (GRCm39) |
D1124V |
possibly damaging |
Het |
| Cask |
C |
T |
X: 13,388,499 (GRCm39) |
E83K |
probably damaging |
Het |
| Cep170b |
A |
G |
12: 112,704,078 (GRCm39) |
Y670C |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,244,037 (GRCm39) |
Y1343H |
probably damaging |
Het |
| Cit |
T |
A |
5: 116,046,775 (GRCm39) |
V396D |
probably benign |
Het |
| Cldn18 |
T |
C |
9: 99,578,135 (GRCm39) |
T203A |
probably benign |
Het |
| Dido1 |
A |
C |
2: 180,313,550 (GRCm39) |
N907K |
probably benign |
Het |
| Dmbt1 |
T |
A |
7: 130,642,921 (GRCm39) |
D246E |
probably damaging |
Het |
| Dph1 |
T |
C |
11: 75,071,486 (GRCm39) |
H303R |
probably benign |
Het |
| Dspp |
T |
A |
5: 104,321,914 (GRCm39) |
Y8N |
probably damaging |
Het |
| Efhc2 |
C |
T |
X: 17,071,198 (GRCm39) |
|
probably benign |
Het |
| Fam171a1 |
T |
A |
2: 3,203,663 (GRCm39) |
V215E |
probably damaging |
Het |
| Fhip1a |
T |
C |
3: 85,580,153 (GRCm39) |
D684G |
probably benign |
Het |
| Foxm1 |
T |
A |
6: 128,344,316 (GRCm39) |
M22K |
probably damaging |
Het |
| Gdpd4 |
A |
C |
7: 97,647,465 (GRCm39) |
M371L |
possibly damaging |
Het |
| Hdac9 |
T |
C |
12: 34,479,488 (GRCm39) |
|
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,413,908 (GRCm39) |
W162R |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,053,078 (GRCm39) |
D250V |
probably damaging |
Het |
| Itga4 |
T |
A |
2: 79,153,005 (GRCm39) |
C897* |
probably null |
Het |
| Itprid1 |
G |
T |
6: 55,944,790 (GRCm39) |
A504S |
possibly damaging |
Het |
| Kcnd2 |
T |
C |
6: 21,727,339 (GRCm39) |
*631Q |
probably null |
Het |
| Kcnn2 |
A |
G |
18: 45,693,694 (GRCm39) |
|
probably null |
Het |
| Lama1 |
A |
T |
17: 68,125,696 (GRCm39) |
E2951V |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,845,455 (GRCm39) |
Q1944R |
probably benign |
Het |
| Mmp14 |
A |
G |
14: 54,673,247 (GRCm39) |
T52A |
possibly damaging |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,372 (GRCm39) |
N102K |
probably benign |
Het |
| Mrpl28 |
G |
A |
17: 26,344,489 (GRCm39) |
G205D |
probably damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,493,230 (GRCm39) |
|
probably benign |
Het |
| Oog2 |
A |
G |
4: 143,921,837 (GRCm39) |
N249S |
probably benign |
Het |
| Or4f57 |
T |
A |
2: 111,790,620 (GRCm39) |
H266L |
possibly damaging |
Het |
| Ppp6r2 |
T |
A |
15: 89,170,131 (GRCm39) |
V882E |
possibly damaging |
Het |
| Qser1 |
A |
C |
2: 104,617,324 (GRCm39) |
Y1073D |
probably damaging |
Het |
| Rbl2 |
C |
A |
8: 91,826,685 (GRCm39) |
D480E |
probably damaging |
Het |
| Rfx7 |
G |
A |
9: 72,525,818 (GRCm39) |
G1003S |
probably damaging |
Het |
| Rrh |
A |
C |
3: 129,616,074 (GRCm39) |
F20V |
possibly damaging |
Het |
| Rwdd3 |
A |
G |
3: 120,965,282 (GRCm39) |
I15T |
possibly damaging |
Het |
| Sestd1 |
A |
T |
2: 77,022,889 (GRCm39) |
M493K |
possibly damaging |
Het |
| Slc17a8 |
T |
A |
10: 89,456,666 (GRCm39) |
L32F |
probably benign |
Het |
| Slc29a4 |
A |
G |
5: 142,691,285 (GRCm39) |
D55G |
probably benign |
Het |
| Tbc1d10a |
A |
T |
11: 4,162,826 (GRCm39) |
Y223F |
probably benign |
Het |
| Tbx20 |
A |
G |
9: 24,681,051 (GRCm39) |
V147A |
probably damaging |
Het |
| Tmtc2 |
C |
A |
10: 105,249,646 (GRCm39) |
R29L |
probably damaging |
Het |
| Ttc21b |
T |
A |
2: 66,018,700 (GRCm39) |
M1236L |
probably benign |
Het |
| Unc119 |
T |
A |
11: 78,238,052 (GRCm39) |
C12S |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,839,787 (GRCm39) |
M1919T |
probably benign |
Het |
| Zmat4 |
C |
A |
8: 24,392,185 (GRCm39) |
T47K |
probably benign |
Het |
|
| Other mutations in Tmem63c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00730:Tmem63c
|
APN |
12 |
87,123,980 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00837:Tmem63c
|
APN |
12 |
87,123,971 (GRCm39) |
missense |
probably benign |
|
|
IGL01521:Tmem63c
|
APN |
12 |
87,115,918 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01955:Tmem63c
|
APN |
12 |
87,123,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02007:Tmem63c
|
APN |
12 |
87,119,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02891:Tmem63c
|
APN |
12 |
87,118,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03102:Tmem63c
|
APN |
12 |
87,112,323 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL03273:Tmem63c
|
APN |
12 |
87,128,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Tmem63c
|
UTSW |
12 |
87,122,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Tmem63c
|
UTSW |
12 |
87,122,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Tmem63c
|
UTSW |
12 |
87,122,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Tmem63c
|
UTSW |
12 |
87,122,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0975:Tmem63c
|
UTSW |
12 |
87,121,843 (GRCm39) |
splice site |
probably benign |
|
|
R2398:Tmem63c
|
UTSW |
12 |
87,103,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4416:Tmem63c
|
UTSW |
12 |
87,128,676 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4721:Tmem63c
|
UTSW |
12 |
87,103,954 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4881:Tmem63c
|
UTSW |
12 |
87,133,192 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4888:Tmem63c
|
UTSW |
12 |
87,136,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5210:Tmem63c
|
UTSW |
12 |
87,136,172 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5277:Tmem63c
|
UTSW |
12 |
87,104,531 (GRCm39) |
splice site |
probably null |
|
|
R5790:Tmem63c
|
UTSW |
12 |
87,104,410 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5855:Tmem63c
|
UTSW |
12 |
87,122,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5940:Tmem63c
|
UTSW |
12 |
87,121,946 (GRCm39) |
missense |
probably benign |
|
|
R6000:Tmem63c
|
UTSW |
12 |
87,103,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6240:Tmem63c
|
UTSW |
12 |
87,123,179 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6268:Tmem63c
|
UTSW |
12 |
87,128,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6749:Tmem63c
|
UTSW |
12 |
87,122,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7380:Tmem63c
|
UTSW |
12 |
87,124,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7472:Tmem63c
|
UTSW |
12 |
87,115,932 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8057:Tmem63c
|
UTSW |
12 |
87,118,972 (GRCm39) |
nonsense |
probably null |
|
|
R8184:Tmem63c
|
UTSW |
12 |
87,108,328 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8350:Tmem63c
|
UTSW |
12 |
87,119,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8499:Tmem63c
|
UTSW |
12 |
87,119,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8750:Tmem63c
|
UTSW |
12 |
87,103,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9138:Tmem63c
|
UTSW |
12 |
87,128,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9566:Tmem63c
|
UTSW |
12 |
87,108,305 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9617:Tmem63c
|
UTSW |
12 |
87,103,361 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9779:Tmem63c
|
UTSW |
12 |
87,104,419 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Tmem63c
|
UTSW |
12 |
87,103,259 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Tmem63c
|
UTSW |
12 |
87,124,038 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation