Incidental Mutation 'R4003:Tmco3'
ID |
311347 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmco3
|
Ensembl Gene |
ENSMUSG00000038497 |
Gene Name |
transmembrane and coiled-coil domains 3 |
Synonyms |
B230339H12Rik |
MMRRC Submission |
040945-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4003 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
13338190-13372924 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 13341959 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 78
(V78M)
|
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: V78M
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000040347 Gene: ENSMUSG00000038497 AA Change: V78M
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: ENSMUST00000203963
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204673
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210402
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211402
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210063
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211645
|
Meta Mutation Damage Score |
0.1242 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.6%
|
Validation Efficiency |
98% (42/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acte1 |
A |
T |
7: 143,451,040 (GRCm39) |
M350L |
probably benign |
Het |
Adgrf4 |
A |
T |
17: 42,980,650 (GRCm39) |
I145N |
probably damaging |
Het |
Adgrv1 |
GA |
GAA |
13: 81,688,251 (GRCm39) |
|
probably null |
Het |
Bmp8b |
T |
A |
4: 123,015,671 (GRCm39) |
|
probably benign |
Het |
Cdhr2 |
A |
T |
13: 54,866,079 (GRCm39) |
E293V |
probably benign |
Het |
Cerkl |
C |
A |
2: 79,259,138 (GRCm39) |
R33L |
possibly damaging |
Het |
Chd9 |
C |
T |
8: 91,683,185 (GRCm39) |
R542C |
probably damaging |
Het |
Csnk2a1 |
A |
G |
2: 152,092,495 (GRCm39) |
E22G |
probably damaging |
Het |
Dnah7c |
A |
G |
1: 46,720,977 (GRCm39) |
K2834E |
probably damaging |
Het |
Eftud2 |
C |
T |
11: 102,750,936 (GRCm39) |
E286K |
possibly damaging |
Het |
Elapor2 |
A |
C |
5: 9,490,877 (GRCm39) |
E629A |
probably benign |
Het |
Fam222b |
C |
T |
11: 78,045,755 (GRCm39) |
P439S |
probably benign |
Het |
Gsn |
A |
G |
2: 35,173,995 (GRCm39) |
K35E |
probably benign |
Het |
Hif3a |
T |
A |
7: 16,778,844 (GRCm39) |
Q358H |
probably damaging |
Het |
L3hypdh |
T |
C |
12: 72,131,890 (GRCm39) |
D14G |
probably benign |
Het |
Map2 |
T |
C |
1: 66,454,899 (GRCm39) |
I1263T |
probably damaging |
Het |
Mrgprx3-ps |
T |
C |
7: 46,959,959 (GRCm39) |
T11A |
probably benign |
Het |
Mylk |
C |
A |
16: 34,783,947 (GRCm39) |
A1371D |
probably benign |
Het |
Myo1b |
A |
G |
1: 51,838,689 (GRCm39) |
|
probably null |
Het |
Or7g35 |
T |
G |
9: 19,496,010 (GRCm39) |
M59R |
probably damaging |
Het |
Pkp3 |
A |
G |
7: 140,668,650 (GRCm39) |
|
probably null |
Het |
Ppp4r3c1 |
T |
C |
X: 88,974,116 (GRCm39) |
I694V |
probably benign |
Het |
Ptprt |
A |
G |
2: 161,408,037 (GRCm39) |
|
probably benign |
Het |
Rabep1 |
T |
A |
11: 70,808,193 (GRCm39) |
M340K |
probably benign |
Het |
Scn10a |
T |
C |
9: 119,438,034 (GRCm39) |
D1945G |
probably null |
Het |
Slc22a2 |
A |
T |
17: 12,831,337 (GRCm39) |
I376F |
probably benign |
Het |
Slc34a1 |
T |
C |
13: 55,550,474 (GRCm39) |
|
probably benign |
Het |
Smc2 |
T |
C |
4: 52,462,897 (GRCm39) |
V629A |
probably damaging |
Het |
Stab2 |
G |
T |
10: 86,693,988 (GRCm39) |
D633E |
probably damaging |
Het |
Tnfaip2 |
C |
T |
12: 111,417,778 (GRCm39) |
|
probably benign |
Het |
Tnfrsf25 |
T |
C |
4: 152,204,058 (GRCm39) |
M333T |
probably damaging |
Het |
Triobp |
A |
G |
15: 78,844,177 (GRCm39) |
|
probably benign |
Het |
Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
Zfp236 |
A |
T |
18: 82,698,870 (GRCm39) |
C70* |
probably null |
Het |
Zfp384 |
T |
C |
6: 125,010,200 (GRCm39) |
|
probably benign |
Het |
Zfp619 |
A |
G |
7: 39,186,730 (GRCm39) |
E920G |
possibly damaging |
Het |
Zhx3 |
G |
A |
2: 160,622,809 (GRCm39) |
P453S |
probably damaging |
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 |
|
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 |
|
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'- TCTTTCACCTGATAGCCAGTG -3'
(R):5'- TTAATGGCAGCCTCCCTCAG -3'
Sequencing Primer
(F):5'- TGCCACTCAGAGGAAACA -3'
(R):5'- AGCCTCCCTCAGAGCCTC -3'
|
Posted On |
2015-04-29 |