Incidental Mutation 'R3843:Tmco3'
ID |
277249 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmco3
|
Ensembl Gene |
ENSMUSG00000038497 |
Gene Name |
transmembrane and coiled-coil domains 3 |
Synonyms |
B230339H12Rik |
MMRRC Submission |
040783-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3843 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
13338190-13372924 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 13346114 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040347
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045229]
|
AlphaFold |
Q8BH01 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045229
|
SMART Domains |
Protein: ENSMUSP00000040347 Gene: ENSMUSG00000038497
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 |
noncoding transcript
Transcript: ENSMUST00000210063
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210402
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211645
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (35/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
A |
T |
6: 23,092,495 (GRCm39) |
Y168* |
probably null |
Het |
Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
Arid2 |
C |
T |
15: 96,249,721 (GRCm39) |
T145I |
possibly damaging |
Het |
Ccdc8 |
T |
C |
7: 16,729,039 (GRCm39) |
V176A |
probably damaging |
Het |
Cdhr1 |
G |
T |
14: 36,806,884 (GRCm39) |
F440L |
probably benign |
Het |
Ckap2 |
A |
T |
8: 22,665,774 (GRCm39) |
N424K |
probably damaging |
Het |
Col6a1 |
C |
T |
10: 76,547,175 (GRCm39) |
R730H |
unknown |
Het |
Dennd1b |
C |
A |
1: 138,981,092 (GRCm39) |
P102Q |
probably damaging |
Het |
E2f1 |
A |
G |
2: 154,402,748 (GRCm39) |
S340P |
probably benign |
Het |
Eef1akmt2 |
C |
T |
7: 132,433,305 (GRCm39) |
V134I |
probably damaging |
Het |
Elp3 |
A |
T |
14: 65,802,932 (GRCm39) |
|
probably null |
Het |
Grap |
T |
G |
11: 61,551,151 (GRCm39) |
|
probably null |
Het |
Heatr1 |
T |
C |
13: 12,450,002 (GRCm39) |
Y1999H |
probably benign |
Het |
Hectd4 |
G |
T |
5: 121,397,936 (GRCm39) |
W288L |
possibly damaging |
Het |
Hnf4g |
G |
A |
3: 3,716,362 (GRCm39) |
C262Y |
probably benign |
Het |
Hrh4 |
A |
G |
18: 13,155,343 (GRCm39) |
Y294C |
possibly damaging |
Het |
Igkv5-39 |
C |
A |
6: 69,877,526 (GRCm39) |
G77W |
probably damaging |
Het |
Kdm2b |
A |
T |
5: 123,072,856 (GRCm39) |
Y341N |
probably damaging |
Het |
Kif26b |
T |
C |
1: 178,755,742 (GRCm39) |
L1952P |
probably damaging |
Het |
Lgr4 |
C |
T |
2: 109,827,118 (GRCm39) |
|
probably benign |
Het |
Nlrc3 |
G |
A |
16: 3,782,828 (GRCm39) |
R194W |
probably benign |
Het |
Nup214 |
T |
C |
2: 31,941,112 (GRCm39) |
F547L |
probably damaging |
Het |
Or5m3 |
A |
G |
2: 85,838,548 (GRCm39) |
I143V |
probably benign |
Het |
Pdp1 |
T |
C |
4: 11,961,961 (GRCm39) |
K117E |
probably benign |
Het |
Phtf2 |
G |
A |
5: 20,979,020 (GRCm39) |
A31V |
probably damaging |
Het |
Pip4p2 |
T |
A |
4: 14,886,553 (GRCm39) |
Y42* |
probably null |
Het |
Pkhd1 |
A |
T |
1: 20,628,947 (GRCm39) |
C667S |
probably benign |
Het |
Pnp2 |
T |
A |
14: 51,200,878 (GRCm39) |
L121Q |
probably null |
Het |
Ppfia1 |
C |
T |
7: 144,058,707 (GRCm39) |
R698Q |
probably benign |
Het |
Sidt1 |
A |
T |
16: 44,104,587 (GRCm39) |
F275I |
probably benign |
Het |
Slc50a1 |
A |
T |
3: 89,177,207 (GRCm39) |
I70N |
probably damaging |
Het |
Sytl2 |
C |
G |
7: 90,009,367 (GRCm39) |
T123R |
possibly damaging |
Het |
Tlk1 |
T |
A |
2: 70,579,671 (GRCm39) |
T214S |
probably benign |
Het |
Trim71 |
T |
C |
9: 114,344,914 (GRCm39) |
T335A |
probably benign |
Het |
Zbtb47 |
T |
A |
9: 121,592,499 (GRCm39) |
V273E |
possibly 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 |
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'- ATCAGAGACCTCTTCCCTGAC -3'
(R):5'- GGCCATTACATCACCAGTCG -3'
Sequencing Primer
(F):5'- GACAACCTCTCTGTGTTCTGAC -3'
(R):5'- TTTAAAGAGACAAACTACCCGTCATC -3'
|
Posted On |
2015-04-06 |