Incidental Mutation 'R2375:Tmco3'
ID |
248263 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmco3
|
Ensembl Gene |
ENSMUSG00000038497 |
Gene Name |
transmembrane and coiled-coil domains 3 |
Synonyms |
B230339H12Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2375 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
13338190-13372924 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 13342059 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 111
(F111S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040347
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045229]
[ENSMUST00000045366]
[ENSMUST00000110838]
[ENSMUST00000110839]
[ENSMUST00000110840]
[ENSMUST00000203467]
[ENSMUST00000203604]
|
AlphaFold |
Q8BH01 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045229
AA Change: F111S
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000040347 Gene: ENSMUSG00000038497 AA Change: F111S
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 |
noncoding transcript
Transcript: ENSMUST00000211402
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203963
|
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: ENSMUST00000204673
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210402
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211645
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210063
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Arhgef7 |
A |
G |
8: 11,864,995 (GRCm39) |
N369S |
probably benign |
Het |
Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
Cps1 |
G |
A |
1: 67,257,019 (GRCm39) |
M1312I |
probably benign |
Het |
Fbn2 |
A |
C |
18: 58,169,038 (GRCm39) |
I2247S |
probably damaging |
Het |
Gtf2ird2 |
T |
A |
5: 134,245,977 (GRCm39) |
L745Q |
probably benign |
Het |
Lrr1 |
A |
G |
12: 69,221,697 (GRCm39) |
T280A |
probably benign |
Het |
Mpig6b |
C |
T |
17: 35,283,359 (GRCm39) |
M226I |
probably benign |
Het |
Myo1a |
A |
G |
10: 127,541,159 (GRCm39) |
D12G |
probably damaging |
Het |
Odr4 |
A |
G |
1: 150,265,985 (GRCm39) |
|
probably null |
Het |
Or6c1 |
A |
G |
10: 129,518,032 (GRCm39) |
F192S |
probably benign |
Het |
Orc5 |
A |
G |
5: 22,751,550 (GRCm39) |
L71P |
probably damaging |
Het |
Phc2 |
T |
C |
4: 128,616,818 (GRCm39) |
S364P |
probably benign |
Het |
Ramp3 |
G |
T |
11: 6,626,643 (GRCm39) |
V117L |
probably benign |
Het |
Rpap1 |
C |
A |
2: 119,600,888 (GRCm39) |
W836L |
possibly damaging |
Het |
Syt13 |
G |
A |
2: 92,776,496 (GRCm39) |
G261D |
probably benign |
Het |
Taf6 |
A |
T |
5: 138,180,463 (GRCm39) |
Y300* |
probably null |
Het |
Thsd7a |
T |
C |
6: 12,337,361 (GRCm39) |
S1219G |
probably damaging |
Het |
Upk1b |
C |
T |
16: 38,607,490 (GRCm39) |
G79E |
probably damaging |
Het |
Zc3h7b |
G |
A |
15: 81,676,703 (GRCm39) |
V773M |
probably benign |
Het |
Zfp655 |
A |
G |
5: 145,181,206 (GRCm39) |
T355A |
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 |
R1594:Tmco3
|
UTSW |
8 |
13,342,052 (GRCm39) |
missense |
probably damaging |
0.98 |
R1727:Tmco3
|
UTSW |
8 |
13,368,866 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1752:Tmco3
|
UTSW |
8 |
13,341,741 (GRCm39) |
missense |
probably benign |
|
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'- CTGCCACTCAGAGGAAACAG -3'
(R):5'- AGGGGCCCTTCCTAATTCTGTG -3'
Sequencing Primer
(F):5'- AAACAGTGGGCCCTGGAC -3'
(R):5'- GTGTGTTGCTCCACCCCAAC -3'
|
Posted On |
2014-11-11 |