Incidental Mutation 'R4416:Tmem63c'
| ID |
326851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem63c
|
| Ensembl Gene |
ENSMUSG00000034145 |
| Gene Name |
transmembrane protein 63c |
| Synonyms |
9330187M14Rik |
| MMRRC Submission |
041137-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R4416 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
87068114-87136817 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 87128676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Arginine
at position 567
(T567R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110187]
[ENSMUST00000131878]
[ENSMUST00000146292]
[ENSMUST00000154801]
|
| AlphaFold |
Q8CBX0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110187
AA Change: T567R
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000105816
Gene: ENSMUSG00000034145
AA Change: T567R
| 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: ENSMUST00000131878
AA Change: T567R
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000117023
Gene: ENSMUSG00000034145
AA Change: T567R
| 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
AA Change: T567R
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000119872
Gene: ENSMUSG00000034145
AA Change: T567R
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220808
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
T |
A |
15: 59,888,272 (GRCm39) |
E56V |
possibly damaging |
Het |
| Adam28 |
A |
G |
14: 68,859,531 (GRCm39) |
|
probably null |
Het |
| Bnc1 |
G |
T |
7: 81,618,708 (GRCm39) |
H786N |
probably benign |
Het |
| Cav1 |
T |
A |
6: 17,339,248 (GRCm39) |
M100K |
probably benign |
Het |
| Cdk9 |
A |
G |
2: 32,598,084 (GRCm39) |
L273P |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,812,200 (GRCm39) |
V2065A |
probably damaging |
Het |
| Cyp2c54 |
T |
C |
19: 40,026,703 (GRCm39) |
Q484R |
probably benign |
Het |
| Elfn1 |
T |
C |
5: 139,957,949 (GRCm39) |
S318P |
possibly damaging |
Het |
| Fbxl6 |
T |
C |
15: 76,421,924 (GRCm39) |
E205G |
possibly damaging |
Het |
| Fhip2a |
G |
T |
19: 57,373,829 (GRCm39) |
|
probably null |
Het |
| Frmd6 |
T |
A |
12: 70,924,023 (GRCm39) |
Y94N |
probably benign |
Het |
| Gdpd1 |
A |
T |
11: 86,926,114 (GRCm39) |
V277D |
probably benign |
Het |
| Grik1 |
C |
A |
16: 87,848,349 (GRCm39) |
V140L |
probably benign |
Het |
| Grpel1 |
A |
G |
5: 36,628,616 (GRCm39) |
H175R |
probably damaging |
Het |
| Gtdc1 |
G |
T |
2: 44,465,602 (GRCm39) |
|
probably null |
Het |
| Hivep2 |
A |
T |
10: 14,004,914 (GRCm39) |
Q504L |
probably benign |
Het |
| Icos |
A |
T |
1: 61,033,849 (GRCm39) |
I160L |
probably benign |
Het |
| Igsf9b |
G |
T |
9: 27,234,213 (GRCm39) |
C442F |
probably damaging |
Het |
| Itga10 |
T |
C |
3: 96,565,562 (GRCm39) |
V1062A |
possibly damaging |
Het |
| Lrp1b |
C |
T |
2: 40,553,679 (GRCm39) |
V386I |
unknown |
Het |
| Lrp2 |
G |
T |
2: 69,357,575 (GRCm39) |
F409L |
probably benign |
Het |
| Nadk |
T |
G |
4: 155,672,183 (GRCm39) |
Y291* |
probably null |
Het |
| Nudt6 |
A |
T |
3: 37,459,378 (GRCm39) |
|
probably null |
Het |
| Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
| Or2ag1b |
G |
A |
7: 106,288,218 (GRCm39) |
T240I |
probably benign |
Het |
| Or6c70 |
T |
C |
10: 129,709,826 (GRCm39) |
T267A |
probably benign |
Het |
| Or8d6 |
A |
G |
9: 39,853,724 (GRCm39) |
H56R |
probably damaging |
Het |
| Pasd1 |
G |
A |
X: 70,983,225 (GRCm39) |
C399Y |
possibly damaging |
Het |
| Pds5b |
C |
T |
5: 150,659,861 (GRCm39) |
P275S |
probably damaging |
Het |
| Pdzd7 |
T |
A |
19: 45,029,019 (GRCm39) |
E117V |
probably damaging |
Het |
| Pik3ca |
T |
C |
3: 32,515,679 (GRCm39) |
V784A |
probably damaging |
Het |
| Polr3e |
T |
C |
7: 120,538,280 (GRCm39) |
|
probably null |
Het |
| Rab3gap2 |
A |
T |
1: 185,014,544 (GRCm39) |
D1231V |
probably benign |
Het |
| Rapgef2 |
C |
A |
3: 78,976,364 (GRCm39) |
G1481* |
probably null |
Het |
| Rho |
G |
A |
6: 115,912,191 (GRCm39) |
V76I |
probably benign |
Het |
| Rrm1 |
A |
G |
7: 102,097,008 (GRCm39) |
D96G |
probably benign |
Het |
| Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
| Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
| Srp9 |
A |
T |
1: 181,958,976 (GRCm39) |
M50L |
probably benign |
Het |
| Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
| Sult1d1 |
A |
G |
5: 87,706,435 (GRCm39) |
F169S |
probably damaging |
Het |
| Tmf1 |
G |
T |
6: 97,155,949 (GRCm39) |
F12L |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,089,071 (GRCm39) |
I342T |
probably damaging |
Het |
| Veph1 |
A |
T |
3: 65,968,606 (GRCm39) |
N712K |
probably damaging |
Het |
| Vti1a |
T |
G |
19: 55,369,380 (GRCm39) |
S91A |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGCGAAAACCCTTAGTGC -3'
(R):5'- TGGAGTCCAAGAAACAGCC -3'
Sequencing Primer
(F):5'- CCCTTAGTGCATAGAATGATTTTGGC -3'
(R):5'- CACCTATGGTCACAGGCCTC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation