Incidental Mutation 'R1594:Tmco3'
| ID |
175565 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmco3
|
| Ensembl Gene |
ENSMUSG00000038497 |
| Gene Name |
transmembrane and coiled-coil domains 3 |
| Synonyms |
B230339H12Rik |
| MMRRC Submission |
039631-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1594 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13338190-13372924 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13342052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 109
(S109P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040347
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045229]
[ENSMUST00000045366]
[ENSMUST00000110838]
[ENSMUST00000110839]
[ENSMUST00000110840]
[ENSMUST00000203467]
[ENSMUST00000203604]
|
| AlphaFold |
Q8BH01 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045229
AA Change: S109P
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040347
Gene: ENSMUSG00000038497
AA Change: S109P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
coiled coil region
|
124 |
204 |
N/A |
INTRINSIC |
|
Pfam:Na_H_Exchanger
|
274 |
662 |
9.2e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045366
|
| SMART Domains |
Protein: ENSMUSP00000047208
Gene: ENSMUSG00000038506
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
9 |
51 |
1.5e-13 |
PFAM |
|
Pfam:Cullin_binding
|
136 |
247 |
2.2e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110838
|
| SMART Domains |
Protein: ENSMUSP00000106462
Gene: ENSMUSG00000038506
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
9 |
50 |
9.9e-14 |
PFAM |
|
PDB:4GAO|G
|
62 |
173 |
3e-71 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110839
|
| SMART Domains |
Protein: ENSMUSP00000106463
Gene: ENSMUSG00000038506
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
9 |
50 |
1.1e-13 |
PFAM |
|
Pfam:Cullin_binding
|
134 |
206 |
2.3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110840
|
| SMART Domains |
Protein: ENSMUSP00000106464
Gene: ENSMUSG00000038506
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
9 |
50 |
7.6e-14 |
PFAM |
|
PDB:4GAO|G
|
62 |
199 |
6e-75 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203467
|
| SMART Domains |
Protein: ENSMUSP00000145399
Gene: ENSMUSG00000038506
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
9 |
51 |
7.5e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203604
|
| SMART Domains |
Protein: ENSMUSP00000145430
Gene: ENSMUSG00000038506
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
9 |
51 |
4.7e-11 |
PFAM |
|
Pfam:Cullin_binding
|
136 |
213 |
1.1e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210402
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211402
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203963
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204673
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210063
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211645
|
| Meta Mutation Damage Score |
0.1350 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.7%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
G |
A |
16: 30,946,205 (GRCm39) |
A264V |
probably benign |
Het |
| Adam17 |
A |
G |
12: 21,390,471 (GRCm39) |
|
probably null |
Het |
| Adcy10 |
A |
G |
1: 165,352,602 (GRCm39) |
N479D |
probably benign |
Het |
| C2cd2l |
A |
G |
9: 44,228,070 (GRCm39) |
S84P |
probably damaging |
Het |
| Capn13 |
A |
G |
17: 73,658,474 (GRCm39) |
V198A |
probably benign |
Het |
| Cblc |
G |
A |
7: 19,526,471 (GRCm39) |
S206F |
probably damaging |
Het |
| Ccdc7b |
A |
T |
8: 129,904,838 (GRCm39) |
T159S |
possibly damaging |
Het |
| Clpx |
A |
G |
9: 65,231,552 (GRCm39) |
T546A |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,948,870 (GRCm39) |
V214A |
possibly damaging |
Het |
| Csgalnact1 |
A |
T |
8: 68,811,284 (GRCm39) |
V462E |
probably damaging |
Het |
| Cts6 |
G |
A |
13: 61,346,181 (GRCm39) |
T202I |
probably damaging |
Het |
| Cwf19l2 |
A |
G |
9: 3,430,973 (GRCm39) |
Y435C |
probably benign |
Het |
| D630003M21Rik |
T |
A |
2: 158,053,550 (GRCm39) |
Q646L |
probably damaging |
Het |
| E2f2 |
A |
G |
4: 135,914,141 (GRCm39) |
Q297R |
possibly damaging |
Het |
| Eef1d |
T |
C |
15: 75,768,195 (GRCm39) |
E189G |
probably damaging |
Het |
| Fam114a2 |
A |
C |
11: 57,404,066 (GRCm39) |
|
probably null |
Het |
| Fam24b |
A |
C |
7: 130,928,025 (GRCm39) |
Y55D |
probably benign |
Het |
| Gimap6 |
T |
C |
6: 48,679,125 (GRCm39) |
T304A |
probably benign |
Het |
| Gm11232 |
T |
C |
4: 71,675,572 (GRCm39) |
E63G |
possibly damaging |
Het |
| Hbs1l |
A |
G |
10: 21,227,922 (GRCm39) |
M152V |
probably benign |
Het |
| Herc3 |
C |
A |
6: 58,864,569 (GRCm39) |
|
probably benign |
Het |
| Hmx2 |
A |
G |
7: 131,157,231 (GRCm39) |
D115G |
probably benign |
Het |
| Igsf3 |
C |
A |
3: 101,358,393 (GRCm39) |
Y761* |
probably null |
Het |
| Kbtbd13 |
A |
G |
9: 65,298,901 (GRCm39) |
W12R |
probably benign |
Het |
| Kif2c |
C |
A |
4: 117,035,385 (GRCm39) |
R21L |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,519,876 (GRCm39) |
N2078S |
probably benign |
Het |
| Mgst3 |
T |
A |
1: 167,201,379 (GRCm39) |
Y102F |
probably damaging |
Het |
| Mov10 |
G |
T |
3: 104,702,727 (GRCm39) |
T946N |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,344,450 (GRCm39) |
I2317N |
possibly damaging |
Het |
| Nid2 |
T |
A |
14: 19,831,329 (GRCm39) |
I741N |
probably benign |
Het |
| Nlrp9a |
G |
A |
7: 26,269,932 (GRCm39) |
W786* |
probably null |
Het |
| Or8g20 |
A |
C |
9: 39,396,042 (GRCm39) |
I166S |
probably benign |
Het |
| Or9a7 |
T |
C |
6: 40,521,281 (GRCm39) |
I211V |
probably benign |
Het |
| Pi4ka |
G |
T |
16: 17,191,283 (GRCm39) |
|
probably benign |
Het |
| Plcb4 |
A |
G |
2: 135,812,310 (GRCm39) |
|
probably benign |
Het |
| Psg16 |
A |
G |
7: 16,827,748 (GRCm39) |
T144A |
probably damaging |
Het |
| Sec24b |
A |
G |
3: 129,785,000 (GRCm39) |
V1002A |
probably benign |
Het |
| Shank1 |
A |
T |
7: 43,976,647 (GRCm39) |
K582* |
probably null |
Het |
| Slc22a7 |
T |
C |
17: 46,748,957 (GRCm39) |
D120G |
possibly damaging |
Het |
| Slco6c1 |
T |
A |
1: 96,990,163 (GRCm39) |
T676S |
probably benign |
Het |
| Sulf2 |
A |
G |
2: 165,926,367 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
T |
C |
14: 55,946,976 (GRCm39) |
D344G |
probably damaging |
Het |
| Tle4 |
C |
T |
19: 14,430,970 (GRCm39) |
W604* |
probably null |
Het |
| Unc13d |
T |
G |
11: 115,959,538 (GRCm39) |
D647A |
probably benign |
Het |
| Usp19 |
T |
C |
9: 108,375,721 (GRCm39) |
V887A |
probably damaging |
Het |
| Vmn2r49 |
A |
T |
7: 9,710,550 (GRCm39) |
D727E |
probably damaging |
Het |
| Ypel1 |
A |
G |
16: 16,899,985 (GRCm39) |
H72R |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,227,456 (GRCm39) |
V2051A |
probably benign |
Het |
| Zfp438 |
A |
G |
18: 5,213,515 (GRCm39) |
L481P |
possibly damaging |
Het |
| Zfp850 |
C |
A |
7: 27,688,816 (GRCm39) |
R464L |
probably benign |
Het |
| Zfp985 |
T |
C |
4: 147,667,537 (GRCm39) |
V135A |
probably benign |
Het |
|
| Other mutations in Tmco3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00824:Tmco3
|
APN |
8 |
13,342,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01139:Tmco3
|
APN |
8 |
13,369,887 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02116:Tmco3
|
APN |
8 |
13,342,706 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03114:Tmco3
|
APN |
8 |
13,348,205 (GRCm39) |
splice site |
probably benign |
|
|
Ganado
|
UTSW |
8 |
13,342,077 (GRCm39) |
splice site |
probably null |
|
|
R0244:Tmco3
|
UTSW |
8 |
13,342,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0385:Tmco3
|
UTSW |
8 |
13,346,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0711:Tmco3
|
UTSW |
8 |
13,342,039 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1727:Tmco3
|
UTSW |
8 |
13,368,866 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1752:Tmco3
|
UTSW |
8 |
13,341,741 (GRCm39) |
missense |
probably benign |
|
|
R2375:Tmco3
|
UTSW |
8 |
13,342,059 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2850:Tmco3
|
UTSW |
8 |
13,345,024 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3843:Tmco3
|
UTSW |
8 |
13,346,114 (GRCm39) |
splice site |
probably benign |
|
|
R4003:Tmco3
|
UTSW |
8 |
13,341,959 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4059:Tmco3
|
UTSW |
8 |
13,370,848 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5071:Tmco3
|
UTSW |
8 |
13,342,860 (GRCm39) |
nonsense |
probably null |
|
|
R5072:Tmco3
|
UTSW |
8 |
13,342,860 (GRCm39) |
nonsense |
probably null |
|
|
R5456:Tmco3
|
UTSW |
8 |
13,369,815 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5556:Tmco3
|
UTSW |
8 |
13,344,870 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5826:Tmco3
|
UTSW |
8 |
13,360,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6200:Tmco3
|
UTSW |
8 |
13,342,077 (GRCm39) |
splice site |
probably null |
|
|
R6586:Tmco3
|
UTSW |
8 |
13,370,894 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6858:Tmco3
|
UTSW |
8 |
13,363,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6867:Tmco3
|
UTSW |
8 |
13,363,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6944:Tmco3
|
UTSW |
8 |
13,353,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7082:Tmco3
|
UTSW |
8 |
13,370,847 (GRCm39) |
nonsense |
probably null |
|
|
R7192:Tmco3
|
UTSW |
8 |
13,369,605 (GRCm39) |
splice site |
probably null |
|
|
R7283:Tmco3
|
UTSW |
8 |
13,369,605 (GRCm39) |
splice site |
probably null |
|
|
R7285:Tmco3
|
UTSW |
8 |
13,369,605 (GRCm39) |
splice site |
probably null |
|
|
R7287:Tmco3
|
UTSW |
8 |
13,369,605 (GRCm39) |
splice site |
probably null |
|
|
R7314:Tmco3
|
UTSW |
8 |
13,369,605 (GRCm39) |
splice site |
probably null |
|
|
R7442:Tmco3
|
UTSW |
8 |
13,370,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8084:Tmco3
|
UTSW |
8 |
13,353,873 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8708:Tmco3
|
UTSW |
8 |
13,345,998 (GRCm39) |
missense |
probably benign |
|
|
R8755:Tmco3
|
UTSW |
8 |
13,341,782 (GRCm39) |
missense |
probably benign |
|
|
R9156:Tmco3
|
UTSW |
8 |
13,360,228 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9226:Tmco3
|
UTSW |
8 |
13,360,143 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTTGGACCATGAAGGTACTGGAC -3'
(R):5'- AGGCTTCGCAAAACGTAATCCCTC -3'
Sequencing Primer
(F):5'- AAGGTACTGGACCAGAGTCTCC -3'
(R):5'- AATTCTGTGTGTTGCTCCACC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation