Incidental Mutation 'IGL00741:Tmco4'
ID |
14482 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmco4
|
Ensembl Gene |
ENSMUSG00000041143 |
Gene Name |
transmembrane and coiled-coil domains 4 |
Synonyms |
4632413C14Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
IGL00741
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
138700199-138786482 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 138723885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059320
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043042]
[ENSMUST00000050949]
|
AlphaFold |
Q91WU4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000043042
|
SMART Domains |
Protein: ENSMUSP00000041388 Gene: ENSMUSG00000041143
Domain | Start | End | E-Value | Type |
Pfam:DUF726
|
182 |
518 |
1.1e-138 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000050949
|
SMART Domains |
Protein: ENSMUSP00000059320 Gene: ENSMUSG00000041143
Domain | Start | End | E-Value | Type |
Pfam:DUF726
|
182 |
518 |
5.3e-145 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124835
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 12 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009J06Rik |
T |
A |
6: 40,941,768 (GRCm39) |
|
probably benign |
Het |
Abcc9 |
A |
C |
6: 142,632,956 (GRCm39) |
V262G |
probably benign |
Het |
Adamtsl1 |
T |
C |
4: 86,195,185 (GRCm39) |
V534A |
probably damaging |
Het |
Arhgap31 |
A |
G |
16: 38,423,363 (GRCm39) |
V901A |
probably damaging |
Het |
C3 |
A |
G |
17: 57,527,206 (GRCm39) |
|
probably benign |
Het |
Chd7 |
T |
C |
4: 8,839,454 (GRCm39) |
V1330A |
probably damaging |
Het |
Dop1a |
A |
G |
9: 86,404,859 (GRCm39) |
T255A |
possibly damaging |
Het |
Eef1a2 |
T |
C |
2: 180,794,803 (GRCm39) |
Q132R |
possibly damaging |
Het |
Pamr1 |
A |
C |
2: 102,416,966 (GRCm39) |
S93R |
possibly damaging |
Het |
Tacc3 |
A |
G |
5: 33,826,984 (GRCm39) |
Y531C |
probably damaging |
Het |
Tcerg1 |
A |
G |
18: 42,701,518 (GRCm39) |
E860G |
possibly damaging |
Het |
Zfyve16 |
A |
G |
13: 92,660,761 (GRCm39) |
L16P |
probably damaging |
Het |
|
Other mutations in Tmco4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01346:Tmco4
|
APN |
4 |
138,748,260 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02552:Tmco4
|
APN |
4 |
138,785,690 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02644:Tmco4
|
APN |
4 |
138,737,920 (GRCm39) |
splice site |
probably benign |
|
IGL02676:Tmco4
|
APN |
4 |
138,750,380 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02741:Tmco4
|
APN |
4 |
138,757,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R0116:Tmco4
|
UTSW |
4 |
138,781,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R0611:Tmco4
|
UTSW |
4 |
138,747,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R4034:Tmco4
|
UTSW |
4 |
138,748,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R4612:Tmco4
|
UTSW |
4 |
138,717,871 (GRCm39) |
missense |
probably benign |
|
R4785:Tmco4
|
UTSW |
4 |
138,725,350 (GRCm39) |
missense |
probably damaging |
0.97 |
R4981:Tmco4
|
UTSW |
4 |
138,718,012 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5040:Tmco4
|
UTSW |
4 |
138,747,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R5052:Tmco4
|
UTSW |
4 |
138,785,817 (GRCm39) |
missense |
probably benign |
|
R5074:Tmco4
|
UTSW |
4 |
138,785,433 (GRCm39) |
missense |
probably damaging |
0.98 |
R5364:Tmco4
|
UTSW |
4 |
138,779,815 (GRCm39) |
missense |
probably damaging |
0.99 |
R5445:Tmco4
|
UTSW |
4 |
138,748,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R5598:Tmco4
|
UTSW |
4 |
138,781,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R6959:Tmco4
|
UTSW |
4 |
138,737,810 (GRCm39) |
missense |
probably damaging |
0.99 |
R7539:Tmco4
|
UTSW |
4 |
138,749,010 (GRCm39) |
missense |
probably benign |
0.33 |
R7662:Tmco4
|
UTSW |
4 |
138,737,872 (GRCm39) |
missense |
probably benign |
0.00 |
R7981:Tmco4
|
UTSW |
4 |
138,785,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R7996:Tmco4
|
UTSW |
4 |
138,748,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R8543:Tmco4
|
UTSW |
4 |
138,781,251 (GRCm39) |
missense |
probably benign |
0.01 |
R9460:Tmco4
|
UTSW |
4 |
138,747,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R9551:Tmco4
|
UTSW |
4 |
138,779,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R9552:Tmco4
|
UTSW |
4 |
138,779,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |