Incidental Mutation 'R6749:Tmem63c'
ID |
532902 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem63c
|
Ensembl Gene |
ENSMUSG00000034145 |
Gene Name |
transmembrane protein 63c |
Synonyms |
9330187M14Rik |
MMRRC Submission |
044866-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R6749 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
87068114-87136817 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 87122439 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 412
(N412K)
|
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: N412K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105816 Gene: ENSMUSG00000034145 AA Change: N412K
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: N412K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117023 Gene: ENSMUSG00000034145 AA Change: N412K
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: N412K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119872 Gene: ENSMUSG00000034145 AA Change: N412K
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
A |
G |
11: 119,901,600 (GRCm39) |
V875A |
possibly damaging |
Het |
Arhgef15 |
A |
T |
11: 68,845,383 (GRCm39) |
F156L |
probably damaging |
Het |
Bdh2 |
T |
A |
3: 135,006,452 (GRCm39) |
S184T |
probably damaging |
Het |
Bmp5 |
A |
T |
9: 75,683,375 (GRCm39) |
M1L |
probably benign |
Het |
Cacfd1 |
T |
C |
2: 26,908,467 (GRCm39) |
Y134H |
probably damaging |
Het |
Camk1 |
G |
A |
6: 113,311,486 (GRCm39) |
P340L |
probably benign |
Het |
Cdc14a |
T |
C |
3: 116,090,807 (GRCm39) |
H424R |
possibly damaging |
Het |
Cntfr |
T |
A |
4: 41,663,232 (GRCm39) |
T192S |
possibly damaging |
Het |
Erbin |
G |
T |
13: 103,970,885 (GRCm39) |
S910R |
probably damaging |
Het |
Esrp1 |
A |
T |
4: 11,357,519 (GRCm39) |
V366E |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,808,738 (GRCm39) |
S1686T |
possibly damaging |
Het |
Gata5 |
A |
G |
2: 179,976,143 (GRCm39) |
L7S |
probably damaging |
Het |
Hgf |
T |
A |
5: 16,818,640 (GRCm39) |
|
probably null |
Het |
Ift140 |
A |
G |
17: 25,317,890 (GRCm39) |
E1458G |
probably damaging |
Het |
Ift57 |
G |
A |
16: 49,581,347 (GRCm39) |
G209R |
probably benign |
Het |
Il12rb2 |
G |
T |
6: 67,338,950 (GRCm39) |
|
probably benign |
Het |
Krt78 |
G |
A |
15: 101,859,358 (GRCm39) |
R280C |
probably damaging |
Het |
Lipc |
A |
G |
9: 70,730,668 (GRCm39) |
I88T |
probably damaging |
Het |
Lrmda |
G |
T |
14: 22,077,344 (GRCm39) |
R27L |
probably benign |
Het |
Lrrc37a |
T |
G |
11: 103,392,923 (GRCm39) |
E834A |
probably benign |
Het |
Mmachc |
C |
A |
4: 116,561,738 (GRCm39) |
R132L |
probably damaging |
Het |
Myo10 |
T |
C |
15: 25,714,196 (GRCm39) |
Y88H |
probably damaging |
Het |
Myo5b |
G |
A |
18: 74,834,574 (GRCm39) |
R878Q |
possibly damaging |
Het |
Or2y1f |
A |
G |
11: 49,184,877 (GRCm39) |
H243R |
probably damaging |
Het |
Padi3 |
T |
C |
4: 140,523,164 (GRCm39) |
T289A |
possibly damaging |
Het |
Pcdhgb4 |
G |
T |
18: 37,854,282 (GRCm39) |
A226S |
possibly damaging |
Het |
Pde4c |
T |
C |
8: 71,198,659 (GRCm39) |
V167A |
probably damaging |
Het |
Pigr |
A |
G |
1: 130,774,285 (GRCm39) |
T422A |
probably benign |
Het |
Pmp2 |
T |
C |
3: 10,247,542 (GRCm39) |
Y49C |
probably benign |
Het |
Prpf39 |
A |
G |
12: 65,103,048 (GRCm39) |
I441V |
possibly damaging |
Het |
Ptprs |
A |
G |
17: 56,744,884 (GRCm39) |
V284A |
probably damaging |
Het |
Rsad1 |
T |
C |
11: 94,434,166 (GRCm39) |
E354G |
probably damaging |
Het |
Sema4b |
T |
A |
7: 79,869,949 (GRCm39) |
D412E |
possibly damaging |
Het |
Siglecg |
A |
G |
7: 43,058,403 (GRCm39) |
I97V |
probably benign |
Het |
Slc4a3 |
C |
T |
1: 75,531,182 (GRCm39) |
R792* |
probably null |
Het |
Slc6a20a |
A |
G |
9: 123,466,135 (GRCm39) |
C569R |
probably damaging |
Het |
Spata19 |
T |
C |
9: 27,309,276 (GRCm39) |
V59A |
probably benign |
Het |
Sult2a3 |
T |
A |
7: 13,816,629 (GRCm39) |
Y183F |
probably benign |
Het |
Tedc1 |
C |
T |
12: 113,121,702 (GRCm39) |
T194M |
probably damaging |
Het |
Tektl1 |
A |
C |
10: 78,588,672 (GRCm39) |
M46R |
possibly damaging |
Het |
Trav5-1 |
T |
C |
14: 52,860,402 (GRCm39) |
I69T |
possibly damaging |
Het |
Trim68 |
T |
C |
7: 102,327,990 (GRCm39) |
D321G |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,695,600 (GRCm39) |
|
probably benign |
Het |
Vars2 |
A |
G |
17: 35,977,605 (GRCm39) |
V109A |
probably damaging |
Het |
Vmn2r96 |
C |
T |
17: 18,818,352 (GRCm39) |
P643L |
probably damaging |
Het |
Zfpm2 |
G |
T |
15: 40,818,104 (GRCm39) |
V146F |
possibly damaging |
Het |
Znfx1 |
T |
C |
2: 166,898,519 (GRCm39) |
K135R |
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 |
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 |
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'- GCCTGAGCTTTCACAGATGG -3'
(R):5'- AATCTCCACCATGCTGTTGTTG -3'
Sequencing Primer
(F):5'- TGGTGTCAAGGAAAGAGCCC -3'
(R):5'- CTCCACCATGCTGTTGTTGTAAAAG -3'
|
Posted On |
2018-08-29 |