Incidental Mutation 'IGL01955:Tmem63c'
ID |
181405 |
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 # |
IGL01955
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
87068114-87136817 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 87123982 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 487
(I487F)
|
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: I487F
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000105816 Gene: ENSMUSG00000034145 AA Change: I487F
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: I487F
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000117023 Gene: ENSMUSG00000034145 AA Change: I487F
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: I487F
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000119872 Gene: ENSMUSG00000034145 AA Change: I487F
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
G |
T |
7: 29,273,420 (GRCm39) |
|
noncoding transcript |
Het |
Abcc1 |
T |
A |
16: 14,228,659 (GRCm39) |
I302N |
probably damaging |
Het |
Abhd16a |
A |
G |
17: 35,320,316 (GRCm39) |
S394G |
probably damaging |
Het |
Adgrv1 |
T |
C |
13: 81,330,902 (GRCm39) |
Y71C |
probably damaging |
Het |
Apol8 |
A |
G |
15: 77,633,899 (GRCm39) |
C226R |
probably benign |
Het |
Bbs7 |
A |
G |
3: 36,664,471 (GRCm39) |
S45P |
probably benign |
Het |
Cacna1b |
T |
C |
2: 24,529,149 (GRCm39) |
Y1575C |
probably damaging |
Het |
Cckbr |
T |
A |
7: 105,084,169 (GRCm39) |
V301E |
probably damaging |
Het |
Cwc27 |
A |
G |
13: 104,944,245 (GRCm39) |
Y79H |
probably damaging |
Het |
Dchs1 |
T |
C |
7: 105,406,798 (GRCm39) |
T2236A |
probably benign |
Het |
Ddx50 |
T |
C |
10: 62,482,962 (GRCm39) |
R36G |
probably benign |
Het |
Extl3 |
T |
A |
14: 65,313,415 (GRCm39) |
Y589F |
probably benign |
Het |
Gab2 |
T |
C |
7: 96,953,430 (GRCm39) |
V601A |
probably damaging |
Het |
Hsd3b1 |
T |
A |
3: 98,760,463 (GRCm39) |
N176I |
probably benign |
Het |
L3mbtl3 |
A |
T |
10: 26,194,336 (GRCm39) |
S420R |
unknown |
Het |
Odad2 |
C |
T |
18: 7,127,291 (GRCm39) |
R974Q |
possibly damaging |
Het |
Or2ak6 |
T |
C |
11: 58,592,955 (GRCm39) |
S143P |
probably damaging |
Het |
Or52e2 |
T |
A |
7: 102,804,061 (GRCm39) |
K298* |
probably null |
Het |
Or5g23 |
A |
G |
2: 85,439,051 (GRCm39) |
F68L |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,632,674 (GRCm39) |
D974G |
probably damaging |
Het |
Ptges3l |
T |
C |
11: 101,314,644 (GRCm39) |
K13E |
possibly damaging |
Het |
Ptprk |
A |
G |
10: 28,471,861 (GRCm39) |
|
probably benign |
Het |
Rassf3 |
T |
C |
10: 121,253,027 (GRCm39) |
Y60C |
probably damaging |
Het |
Rnf157 |
T |
C |
11: 116,250,722 (GRCm39) |
T160A |
probably damaging |
Het |
Secisbp2l |
A |
G |
2: 125,585,732 (GRCm39) |
|
probably null |
Het |
Setd2 |
A |
G |
9: 110,378,386 (GRCm39) |
T734A |
probably benign |
Het |
Skint5 |
A |
G |
4: 113,480,933 (GRCm39) |
|
probably null |
Het |
Slc38a9 |
A |
G |
13: 112,831,952 (GRCm39) |
|
probably benign |
Het |
Snx17 |
T |
G |
5: 31,354,426 (GRCm39) |
|
probably benign |
Het |
Tas2r113 |
A |
T |
6: 132,870,817 (GRCm39) |
M282L |
probably benign |
Het |
Tbc1d31 |
A |
G |
15: 57,805,766 (GRCm39) |
N404D |
probably benign |
Het |
Tpm3 |
A |
G |
3: 89,995,742 (GRCm39) |
M164V |
probably benign |
Het |
Trafd1 |
G |
T |
5: 121,513,217 (GRCm39) |
N340K |
probably benign |
Het |
Trpv4 |
T |
A |
5: 114,760,743 (GRCm39) |
K863* |
probably null |
Het |
Ttn |
A |
T |
2: 76,627,696 (GRCm39) |
M13003K |
possibly damaging |
Het |
Tulp1 |
G |
A |
17: 28,575,398 (GRCm39) |
T103M |
probably damaging |
Het |
Unc5b |
T |
C |
10: 60,614,034 (GRCm39) |
T272A |
probably benign |
Het |
Vmn1r82 |
A |
C |
7: 12,039,650 (GRCm39) |
|
probably null |
Het |
Zc3h7b |
A |
G |
15: 81,676,205 (GRCm39) |
N704D |
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 |
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 |
2014-05-07 |