Incidental Mutation 'R3761:Tmco5'
| ID |
270528 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmco5
|
| Ensembl Gene |
ENSMUSG00000027355 |
| Gene Name |
transmembrane and coiled-coil domains 5 |
| Synonyms |
1700095F04Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3761 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
116709172-116722975 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 116717787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028834]
[ENSMUST00000123598]
[ENSMUST00000155470]
|
| AlphaFold |
Q9D9D5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028834
|
| SMART Domains |
Protein: ENSMUSP00000028834
Gene: ENSMUSG00000027355
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMCO5
|
28 |
302 |
6.6e-114 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000123598
|
| SMART Domains |
Protein: ENSMUSP00000115690
Gene: ENSMUSG00000027355
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMCO5
|
27 |
250 |
3e-79 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146144
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000155470
|
| SMART Domains |
Protein: ENSMUSP00000122739
Gene: ENSMUSG00000027355
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMCO5
|
27 |
164 |
1.8e-47 |
PFAM |
|
Pfam:TMCO5
|
161 |
226 |
1.5e-14 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2cl |
A |
G |
9: 110,727,202 (GRCm39) |
T923A |
probably damaging |
Het |
| Ccdc91 |
A |
T |
6: 147,464,200 (GRCm39) |
D216V |
unknown |
Het |
| Clstn3 |
A |
G |
6: 124,434,835 (GRCm39) |
V360A |
possibly damaging |
Het |
| Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
| Ehmt2 |
A |
G |
17: 35,132,707 (GRCm39) |
I1235V |
probably damaging |
Het |
| Eif3e |
C |
T |
15: 43,124,480 (GRCm39) |
R346H |
probably damaging |
Het |
| Esrp2 |
T |
C |
8: 106,860,254 (GRCm39) |
D301G |
probably damaging |
Het |
| Fam174a |
G |
T |
1: 95,241,971 (GRCm39) |
V144F |
probably damaging |
Het |
| Fbxo31 |
A |
T |
8: 122,287,169 (GRCm39) |
W135R |
possibly damaging |
Het |
| Heatr5b |
A |
G |
17: 79,137,071 (GRCm39) |
S150P |
probably damaging |
Het |
| Il16 |
A |
G |
7: 83,300,093 (GRCm39) |
L400S |
possibly damaging |
Het |
| Or10d1c |
A |
T |
9: 38,893,662 (GRCm39) |
I226N |
possibly damaging |
Het |
| Ryr3 |
A |
G |
2: 112,585,258 (GRCm39) |
F2776S |
probably benign |
Het |
| Sema3d |
T |
C |
5: 12,621,004 (GRCm39) |
Y537H |
probably damaging |
Het |
| Sh3pxd2b |
T |
C |
11: 32,372,750 (GRCm39) |
V639A |
probably benign |
Het |
| Slc39a10 |
A |
G |
1: 46,851,285 (GRCm39) |
V735A |
possibly damaging |
Het |
| Slc45a2 |
T |
A |
15: 11,012,800 (GRCm39) |
Y268N |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,631,085 (GRCm39) |
H649Q |
probably damaging |
Het |
|
| Other mutations in Tmco5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01787:Tmco5
|
APN |
2 |
116,717,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03302:Tmco5
|
APN |
2 |
116,722,760 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0054:Tmco5
|
UTSW |
2 |
116,717,768 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0054:Tmco5
|
UTSW |
2 |
116,717,768 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0369:Tmco5
|
UTSW |
2 |
116,711,269 (GRCm39) |
splice site |
probably null |
|
|
R0485:Tmco5
|
UTSW |
2 |
116,720,588 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0973:Tmco5
|
UTSW |
2 |
116,713,699 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0973:Tmco5
|
UTSW |
2 |
116,713,699 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0974:Tmco5
|
UTSW |
2 |
116,713,699 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1622:Tmco5
|
UTSW |
2 |
116,710,796 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1838:Tmco5
|
UTSW |
2 |
116,711,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2060:Tmco5
|
UTSW |
2 |
116,722,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4514:Tmco5
|
UTSW |
2 |
116,710,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Tmco5
|
UTSW |
2 |
116,722,689 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7373:Tmco5
|
UTSW |
2 |
116,717,226 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7682:Tmco5
|
UTSW |
2 |
116,716,752 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7752:Tmco5
|
UTSW |
2 |
116,722,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8342:Tmco5
|
UTSW |
2 |
116,710,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9289:Tmco5
|
UTSW |
2 |
116,710,745 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9568:Tmco5
|
UTSW |
2 |
116,710,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTATTCATTCTACCGTCTCGCG -3'
(R):5'- CTTACCAAGGATTCCAGACAGC -3'
Sequencing Primer
(F):5'- ATTCTACCGTCTCGCGAAAAGTG -3'
(R):5'- GTCTATGCTATTACAATGTAGCCGTG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation