Incidental Mutation 'R8184:Tmem63c'
| ID |
634784 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem63c
|
| Ensembl Gene |
ENSMUSG00000034145 |
| Gene Name |
transmembrane protein 63c |
| Synonyms |
9330187M14Rik |
| MMRRC Submission |
067607-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R8184 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
87068114-87136817 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87108328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 114
(M114L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110187]
[ENSMUST00000131878]
[ENSMUST00000146292]
[ENSMUST00000154801]
[ENSMUST00000156162]
|
| AlphaFold |
Q8CBX0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110187
AA Change: M114L
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105816
Gene: ENSMUSG00000034145
AA Change: M114L
| 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 |
possibly damaging
Transcript: ENSMUST00000131878
AA Change: M114L
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117023
Gene: ENSMUSG00000034145
AA Change: M114L
| 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 |
possibly damaging
Transcript: ENSMUST00000146292
AA Change: M114L
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119872
Gene: ENSMUSG00000034145
AA Change: M114L
| 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 |
possibly damaging
Transcript: ENSMUST00000154801
AA Change: M114L
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119898
Gene: ENSMUSG00000034145
AA Change: M114L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RSN1_TM
|
35 |
179 |
1.6e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156162
|
| SMART Domains |
Protein: ENSMUSP00000122346
Gene: ENSMUSG00000034145
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accsl |
T |
C |
2: 93,686,086 (GRCm39) |
K577R |
probably benign |
Het |
| Baiap3 |
A |
G |
17: 25,467,499 (GRCm39) |
S368P |
probably benign |
Het |
| Brf2 |
T |
C |
8: 27,614,013 (GRCm39) |
E391G |
possibly damaging |
Het |
| Casr |
T |
A |
16: 36,330,108 (GRCm39) |
M409L |
probably benign |
Het |
| Ccdc83 |
G |
T |
7: 89,873,286 (GRCm39) |
Y356* |
probably null |
Het |
| Clec10a |
A |
T |
11: 70,060,642 (GRCm39) |
N166Y |
probably damaging |
Het |
| Copg1 |
T |
C |
6: 87,866,996 (GRCm39) |
F77S |
probably damaging |
Het |
| Dnah7a |
T |
G |
1: 53,666,194 (GRCm39) |
K611T |
probably benign |
Het |
| Dock10 |
G |
A |
1: 80,530,469 (GRCm39) |
H1025Y |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,741,596 (GRCm39) |
S876T |
possibly damaging |
Het |
| Dop1b |
G |
T |
16: 93,573,881 (GRCm39) |
R1701L |
probably benign |
Het |
| Dus4l |
A |
G |
12: 31,690,817 (GRCm39) |
F278S |
probably damaging |
Het |
| Fbxo43 |
C |
T |
15: 36,162,485 (GRCm39) |
V241I |
possibly damaging |
Het |
| Gbx2 |
A |
T |
1: 89,856,550 (GRCm39) |
I280N |
probably damaging |
Het |
| Gnai1 |
A |
G |
5: 18,496,504 (GRCm39) |
F140L |
|
Het |
| Gne |
T |
C |
4: 44,084,061 (GRCm39) |
Y13C |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,121,662 (GRCm39) |
S688T |
probably benign |
Het |
| Hectd2 |
T |
A |
19: 36,581,754 (GRCm39) |
D431E |
possibly damaging |
Het |
| Hecw2 |
A |
G |
1: 54,079,546 (GRCm39) |
S36P |
probably benign |
Het |
| Hpx |
A |
T |
7: 105,241,352 (GRCm39) |
I353N |
probably damaging |
Het |
| Ints8 |
A |
T |
4: 11,204,534 (GRCm39) |
V974E |
probably damaging |
Het |
| Jaml |
T |
A |
9: 45,000,110 (GRCm39) |
L136Q |
probably damaging |
Het |
| Kazn |
A |
G |
4: 141,845,441 (GRCm39) |
V381A |
probably benign |
Het |
| Krt79 |
T |
C |
15: 101,838,187 (GRCm39) |
T523A |
unknown |
Het |
| Lrrc8e |
T |
G |
8: 4,285,140 (GRCm39) |
L455R |
probably damaging |
Het |
| Mrps11 |
T |
C |
7: 78,433,125 (GRCm39) |
S7P |
possibly damaging |
Het |
| Muc21 |
A |
G |
17: 35,933,722 (GRCm39) |
S155P |
unknown |
Het |
| Neurl3 |
A |
G |
1: 36,308,662 (GRCm39) |
F50S |
probably damaging |
Het |
| Nlgn1 |
T |
C |
3: 25,490,363 (GRCm39) |
T455A |
probably damaging |
Het |
| Pbp2 |
T |
C |
6: 135,287,260 (GRCm39) |
Y29C |
probably damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,101,791 (GRCm39) |
L992* |
probably null |
Het |
| Pla2g6 |
A |
G |
15: 79,171,322 (GRCm39) |
I756T |
probably benign |
Het |
| Polm |
T |
A |
11: 5,781,707 (GRCm39) |
D263V |
possibly damaging |
Het |
| Pspc1 |
T |
C |
14: 57,001,700 (GRCm39) |
T225A |
probably benign |
Het |
| Rtca |
C |
A |
3: 116,301,473 (GRCm39) |
A25S |
probably benign |
Het |
| Sirt2 |
G |
A |
7: 28,487,191 (GRCm39) |
V318M |
probably damaging |
Het |
| Slc1a2 |
T |
A |
2: 102,568,197 (GRCm39) |
I78K |
probably damaging |
Het |
| Slco3a1 |
A |
G |
7: 74,009,577 (GRCm39) |
I246T |
probably benign |
Het |
| Smpd5 |
A |
G |
15: 76,179,926 (GRCm39) |
E325G |
probably benign |
Het |
| Snw1 |
T |
C |
12: 87,500,673 (GRCm39) |
E362G |
probably benign |
Het |
| Trim24 |
T |
C |
6: 37,848,242 (GRCm39) |
L66P |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,896,060 (GRCm39) |
F966L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,609,643 (GRCm39) |
I17588V |
probably benign |
Het |
| Vmn2r44 |
A |
T |
7: 8,371,227 (GRCm39) |
C606* |
probably null |
Het |
| Vmn2r74 |
A |
T |
7: 85,601,454 (GRCm39) |
V728E |
probably benign |
Het |
| Zfp503 |
T |
C |
14: 22,036,019 (GRCm39) |
D299G |
possibly damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
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 |
|
|
IGL01317:Tmem63c
|
APN |
12 |
87,118,770 (GRCm39) |
splice site |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATGTCTGCTCACTTCTAGGG -3'
(R):5'- CCCAAGGGTCAAGATAGGAGTC -3'
Sequencing Primer
(F):5'- CACTTCTAGGGAGACATGTCC -3'
(R):5'- TCAGGGGCAAAGTGCTGTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation