Incidental Mutation 'R5855:Tmem63c'
ID |
454877 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem63c
|
Ensembl Gene |
ENSMUSG00000034145 |
Gene Name |
transmembrane protein 63c |
Synonyms |
9330187M14Rik |
MMRRC Submission |
043229-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R5855 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
87068114-87136817 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 87122500 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 433
(D433N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119872
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110187]
[ENSMUST00000131878]
[ENSMUST00000146292]
[ENSMUST00000154801]
|
AlphaFold |
Q8CBX0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110187
AA Change: D433N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105816 Gene: ENSMUSG00000034145 AA Change: D433N
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 damaging
Transcript: ENSMUST00000131878
AA Change: D433N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117023 Gene: ENSMUSG00000034145 AA Change: D433N
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 damaging
Transcript: ENSMUST00000146292
AA Change: D433N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119872 Gene: ENSMUSG00000034145 AA Change: D433N
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: 99.8%
- 3x: 99.4%
- 10x: 96.8%
- 20x: 89.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadsb |
T |
G |
7: 131,026,328 (GRCm39) |
L57R |
probably damaging |
Het |
Bmpr1b |
G |
A |
3: 141,577,146 (GRCm39) |
T55M |
possibly damaging |
Het |
Cep350 |
G |
A |
1: 155,829,508 (GRCm39) |
T132I |
probably benign |
Het |
Cops4 |
A |
T |
5: 100,695,280 (GRCm39) |
M400L |
probably benign |
Het |
Cul1 |
G |
A |
6: 47,500,147 (GRCm39) |
D653N |
probably benign |
Het |
Cyp3a13 |
C |
G |
5: 137,917,318 (GRCm39) |
L36F |
probably damaging |
Het |
Dcaf10 |
T |
C |
4: 45,342,558 (GRCm39) |
F131L |
probably benign |
Het |
Dgkh |
T |
C |
14: 78,861,944 (GRCm39) |
|
probably null |
Het |
Igll1 |
C |
T |
16: 16,678,921 (GRCm39) |
V130M |
probably damaging |
Het |
Kif2c |
C |
T |
4: 117,039,739 (GRCm39) |
|
probably benign |
Het |
Klra7 |
T |
C |
6: 130,195,921 (GRCm39) |
D262G |
possibly damaging |
Het |
Lrrc27 |
T |
C |
7: 138,798,251 (GRCm39) |
|
probably benign |
Het |
Maf |
A |
G |
8: 116,432,531 (GRCm39) |
S358P |
probably benign |
Het |
Map1a |
A |
G |
2: 121,134,155 (GRCm39) |
D1419G |
possibly damaging |
Het |
Map3k1 |
G |
A |
13: 111,892,513 (GRCm39) |
A914V |
probably benign |
Het |
Naa25 |
T |
G |
5: 121,561,755 (GRCm39) |
L436R |
possibly damaging |
Het |
Ndc1 |
T |
C |
4: 107,240,904 (GRCm39) |
I294T |
probably damaging |
Het |
Nek1 |
A |
C |
8: 61,469,306 (GRCm39) |
D121A |
probably damaging |
Het |
Nfil3 |
C |
T |
13: 53,122,746 (GRCm39) |
G53R |
probably benign |
Het |
Or10h28 |
T |
C |
17: 33,488,310 (GRCm39) |
V204A |
possibly damaging |
Het |
Parp14 |
A |
T |
16: 35,661,297 (GRCm39) |
Y1550* |
probably null |
Het |
Patl1 |
A |
G |
19: 11,898,880 (GRCm39) |
I192V |
probably damaging |
Het |
Pax3 |
G |
A |
1: 78,098,288 (GRCm39) |
T367I |
probably damaging |
Het |
Pla2g4a |
C |
T |
1: 149,755,814 (GRCm39) |
V208M |
probably damaging |
Het |
Prdm10 |
A |
T |
9: 31,248,619 (GRCm39) |
K347M |
probably damaging |
Het |
Prkd1 |
A |
T |
12: 50,439,699 (GRCm39) |
M376K |
probably benign |
Het |
Prkg1 |
C |
T |
19: 30,872,094 (GRCm39) |
V219I |
possibly damaging |
Het |
Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
Scn3a |
T |
C |
2: 65,295,074 (GRCm39) |
I1550V |
possibly damaging |
Het |
Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
Sox4 |
T |
C |
13: 29,136,979 (GRCm39) |
E9G |
probably damaging |
Het |
Spon1 |
T |
A |
7: 113,628,307 (GRCm39) |
D354E |
probably damaging |
Het |
Stat2 |
T |
A |
10: 128,119,363 (GRCm39) |
L450H |
probably damaging |
Het |
Tek |
T |
A |
4: 94,741,790 (GRCm39) |
M849K |
probably damaging |
Het |
Tnpo3 |
G |
A |
6: 29,589,032 (GRCm39) |
T106I |
probably damaging |
Het |
Tns1 |
G |
T |
1: 73,957,192 (GRCm39) |
A1674D |
possibly damaging |
Het |
Trim8 |
T |
C |
19: 46,503,849 (GRCm39) |
V467A |
possibly damaging |
Het |
Trmo |
T |
A |
4: 46,382,568 (GRCm39) |
H183L |
probably benign |
Het |
Trpm1 |
C |
A |
7: 63,918,710 (GRCm39) |
C683* |
probably null |
Het |
Vsig10 |
T |
G |
5: 117,476,335 (GRCm39) |
L263R |
probably damaging |
Het |
Zfp874a |
A |
T |
13: 67,590,812 (GRCm39) |
Y291N |
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 |
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 |
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'- TGGTGTCAAGGAAAGAGCCC -3'
(R):5'- TCTAGCCTGTCCCTGAGATG -3'
Sequencing Primer
(F):5'- GCACACAGGAAAAAGTATTGGTTTC -3'
(R):5'- AGTCATCCTATTTAGAACCCAGG -3'
|
Posted On |
2017-02-10 |