Incidental Mutation 'IGL00837:Tmem63c'
ID |
14501 |
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 # |
IGL00837
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
87068114-87136817 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 87123971 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 483
(S483N)
|
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: S483N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105816 Gene: ENSMUSG00000034145 AA Change: S483N
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: S483N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000117023 Gene: ENSMUSG00000034145 AA Change: S483N
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: S483N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000119872 Gene: ENSMUSG00000034145 AA Change: S483N
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcyap1r1 |
T |
C |
6: 55,438,605 (GRCm39) |
|
probably benign |
Het |
Adig |
T |
A |
2: 158,344,709 (GRCm39) |
F16Y |
possibly damaging |
Het |
Alox12e |
T |
C |
11: 70,211,880 (GRCm39) |
T210A |
probably benign |
Het |
Ankfy1 |
T |
A |
11: 72,646,724 (GRCm39) |
|
probably benign |
Het |
Aoc1 |
T |
A |
6: 48,885,598 (GRCm39) |
I701N |
possibly damaging |
Het |
Armc1 |
A |
C |
3: 19,198,584 (GRCm39) |
N125K |
probably benign |
Het |
Bcl2a1c |
A |
T |
9: 114,159,560 (GRCm39) |
T113S |
probably benign |
Het |
Cdh10 |
A |
T |
15: 19,013,490 (GRCm39) |
I697L |
probably benign |
Het |
Cep350 |
A |
T |
1: 155,829,137 (GRCm39) |
S256T |
probably damaging |
Het |
Chd6 |
T |
C |
2: 160,883,999 (GRCm39) |
N82S |
probably benign |
Het |
Gart |
T |
C |
16: 91,435,608 (GRCm39) |
|
probably benign |
Het |
Gtf3c6 |
A |
G |
10: 40,130,470 (GRCm39) |
|
probably benign |
Het |
Igf1r |
T |
C |
7: 67,851,100 (GRCm39) |
|
probably benign |
Het |
Mtmr6 |
T |
A |
14: 60,517,666 (GRCm39) |
Y92* |
probably null |
Het |
Muc13 |
A |
T |
16: 33,628,329 (GRCm39) |
K360* |
probably null |
Het |
Nfyc |
A |
G |
4: 120,638,744 (GRCm39) |
|
probably benign |
Het |
Pole |
T |
A |
5: 110,449,875 (GRCm39) |
V774E |
possibly damaging |
Het |
Rnf217 |
A |
G |
10: 31,379,770 (GRCm39) |
L484P |
probably damaging |
Het |
Slc18a2 |
A |
T |
19: 59,272,816 (GRCm39) |
I373F |
probably benign |
Het |
Slc5a9 |
A |
G |
4: 111,750,887 (GRCm39) |
|
probably benign |
Het |
Tbc1d30 |
T |
C |
10: 121,132,750 (GRCm39) |
I205V |
probably damaging |
Het |
Tfap2d |
A |
T |
1: 19,189,430 (GRCm39) |
D270V |
probably damaging |
Het |
Tor1aip1 |
T |
A |
1: 155,882,662 (GRCm39) |
|
probably benign |
Het |
Tsga10 |
A |
C |
1: 37,840,992 (GRCm39) |
|
probably benign |
Het |
Ttc21b |
A |
T |
2: 66,065,915 (GRCm39) |
|
probably null |
Het |
Wdr89 |
A |
T |
12: 75,679,825 (GRCm39) |
L143* |
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 |
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 |
|
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 |
2012-12-06 |