Incidental Mutation 'IGL00719:Tmbim7'
| ID |
8467 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmbim7
|
| Ensembl Gene |
ENSMUSG00000014529 |
| Gene Name |
transmembrane BAX inhibitor motif containing 7 |
| Synonyms |
4930403J02Rik, 4930500J03Rik, Lfg5, Tmbim1b, 4930511M11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
IGL00719
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
3707004-3729865 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3729087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 279
(I279N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014673
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014673]
[ENSMUST00000156117]
[ENSMUST00000198739]
|
| AlphaFold |
Q9D592 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014673
AA Change: I279N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000014673
Gene: ENSMUSG00000014529
AA Change: I279N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bax1-I
|
92 |
300 |
3.6e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156117
|
| SMART Domains |
Protein: ENSMUSP00000117435
Gene: ENSMUSG00000014529
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bax1-I
|
55 |
205 |
2e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198739
AA Change: I201N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143399
Gene: ENSMUSG00000014529
AA Change: I201N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bax1-I
|
28 |
222 |
3.2e-33 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Allc |
C |
T |
12: 28,614,248 (GRCm39) |
E142K |
probably benign |
Het |
| Cln5 |
C |
T |
14: 103,313,468 (GRCm39) |
T240M |
possibly damaging |
Het |
| Ddx42 |
T |
C |
11: 106,126,575 (GRCm39) |
V330A |
probably damaging |
Het |
| Egr1 |
G |
A |
18: 34,995,547 (GRCm39) |
E110K |
possibly damaging |
Het |
| Fbxw7 |
A |
G |
3: 84,876,616 (GRCm39) |
|
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,141,005 (GRCm39) |
D674G |
probably damaging |
Het |
| Mboat2 |
T |
A |
12: 24,989,353 (GRCm39) |
|
probably benign |
Het |
| Mga |
T |
A |
2: 119,777,934 (GRCm39) |
Y1826* |
probably null |
Het |
| Mipol1 |
T |
A |
12: 57,354,139 (GRCm39) |
|
probably benign |
Het |
| Pds5b |
C |
A |
5: 150,646,007 (GRCm39) |
T155N |
probably benign |
Het |
| Plk4 |
A |
T |
3: 40,756,224 (GRCm39) |
D45V |
probably damaging |
Het |
| Rnf24 |
C |
T |
2: 131,147,613 (GRCm39) |
V63I |
possibly damaging |
Het |
| Serpinb6b |
A |
T |
13: 33,155,529 (GRCm39) |
T81S |
probably benign |
Het |
| Sesn1 |
C |
T |
10: 41,774,321 (GRCm39) |
T291I |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,732,077 (GRCm39) |
T1276A |
probably benign |
Het |
| Zfp40 |
T |
C |
17: 23,394,716 (GRCm39) |
T556A |
probably benign |
Het |
|
| Other mutations in Tmbim7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01712:Tmbim7
|
APN |
5 |
3,720,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03003:Tmbim7
|
APN |
5 |
3,711,887 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL03115:Tmbim7
|
APN |
5 |
3,729,158 (GRCm39) |
makesense |
probably null |
|
|
FR4340:Tmbim7
|
UTSW |
5 |
3,720,064 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
FR4342:Tmbim7
|
UTSW |
5 |
3,720,064 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
FR4589:Tmbim7
|
UTSW |
5 |
3,720,064 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0241:Tmbim7
|
UTSW |
5 |
3,716,866 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0241:Tmbim7
|
UTSW |
5 |
3,716,866 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1195:Tmbim7
|
UTSW |
5 |
3,711,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1195:Tmbim7
|
UTSW |
5 |
3,711,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1195:Tmbim7
|
UTSW |
5 |
3,711,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1462:Tmbim7
|
UTSW |
5 |
3,714,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Tmbim7
|
UTSW |
5 |
3,714,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1590:Tmbim7
|
UTSW |
5 |
3,715,338 (GRCm39) |
splice site |
probably null |
|
|
R1795:Tmbim7
|
UTSW |
5 |
3,707,493 (GRCm39) |
splice site |
probably null |
|
|
R2919:Tmbim7
|
UTSW |
5 |
3,723,188 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3896:Tmbim7
|
UTSW |
5 |
3,711,916 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4353:Tmbim7
|
UTSW |
5 |
3,711,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4930:Tmbim7
|
UTSW |
5 |
3,711,948 (GRCm39) |
nonsense |
probably null |
|
|
R5277:Tmbim7
|
UTSW |
5 |
3,723,192 (GRCm39) |
splice site |
probably null |
|
|
R6475:Tmbim7
|
UTSW |
5 |
3,714,319 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6633:Tmbim7
|
UTSW |
5 |
3,707,659 (GRCm39) |
splice site |
probably null |
|
|
R6835:Tmbim7
|
UTSW |
5 |
3,711,943 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7047:Tmbim7
|
UTSW |
5 |
3,720,112 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9709:Tmbim7
|
UTSW |
5 |
3,711,809 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-12-06 |
Incidental Mutation