Incidental Mutation 'IGL03306:Tmbim1'
| ID |
416395 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmbim1
|
| Ensembl Gene |
ENSMUSG00000006301 |
| Gene Name |
transmembrane BAX inhibitor motif containing 1 |
| Synonyms |
2310061B02Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.286)
|
| Stock # |
IGL03306
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
74327406-74343495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74332225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 101
(Y101H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016309]
[ENSMUST00000027370]
[ENSMUST00000087226]
[ENSMUST00000113796]
[ENSMUST00000130763]
[ENSMUST00000141560]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016309
AA Change: Y101H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000016309
Gene: ENSMUSG00000006301
AA Change: Y101H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
65 |
N/A |
INTRINSIC |
|
Pfam:Bax1-I
|
94 |
305 |
1.3e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027370
|
| SMART Domains |
Protein: ENSMUSP00000027370
Gene: ENSMUSG00000026179
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Lactamase_B
|
4 |
79 |
1e-24 |
BLAST |
|
Lactamase_B
|
129 |
291 |
1.05e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087226
|
| SMART Domains |
Protein: ENSMUSP00000084478
Gene: ENSMUSG00000026179
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
61 |
N/A |
INTRINSIC |
|
Pfam:DUF4748
|
71 |
121 |
2.9e-23 |
PFAM |
|
Lactamase_B
|
168 |
330 |
1.05e-31 |
SMART |
|
Pfam:HAGH_C
|
331 |
421 |
6.2e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113796
AA Change: Y101H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109427
Gene: ENSMUSG00000006301
AA Change: Y101H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
65 |
N/A |
INTRINSIC |
|
Pfam:Bax1-I
|
94 |
305 |
4.6e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128505
|
| SMART Domains |
Protein: ENSMUSP00000122874
Gene: ENSMUSG00000006301
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bax1-I
|
1 |
152 |
3.3e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130763
|
| SMART Domains |
Protein: ENSMUSP00000121814
Gene: ENSMUSG00000006301
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
65 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135384
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186510
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154859
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187941
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152603
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138620
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141560
|
| SMART Domains |
Protein: ENSMUSP00000115444
Gene: ENSMUSG00000006301
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
65 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit susceptibility to cystic medial degeneration without inflammation or change in blood pressure and are prone to aortic dilation with age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
T |
A |
7: 76,239,252 (GRCm39) |
F584Y |
probably damaging |
Het |
| Amer2 |
C |
A |
14: 60,616,001 (GRCm39) |
D65E |
probably damaging |
Het |
| Arhgap28 |
A |
T |
17: 68,159,930 (GRCm39) |
L623Q |
probably damaging |
Het |
| Cep152 |
T |
C |
2: 125,447,328 (GRCm39) |
T407A |
possibly damaging |
Het |
| Cmpk2 |
A |
G |
12: 26,521,442 (GRCm39) |
D238G |
possibly damaging |
Het |
| Fam169a |
C |
A |
13: 97,243,497 (GRCm39) |
Q176K |
possibly damaging |
Het |
| Fbxo17 |
T |
A |
7: 28,434,782 (GRCm39) |
I189N |
probably damaging |
Het |
| Gm5581 |
T |
A |
6: 131,145,044 (GRCm39) |
|
noncoding transcript |
Het |
| Gpcpd1 |
C |
T |
2: 132,375,993 (GRCm39) |
|
probably null |
Het |
| Lhx2 |
A |
G |
2: 38,244,628 (GRCm39) |
Y123C |
probably damaging |
Het |
| Llgl1 |
C |
A |
11: 60,602,180 (GRCm39) |
T741N |
possibly damaging |
Het |
| Macc1 |
A |
G |
12: 119,410,603 (GRCm39) |
Q457R |
probably benign |
Het |
| Mthfd2l |
A |
G |
5: 91,168,067 (GRCm39) |
T321A |
probably damaging |
Het |
| Myo6 |
T |
C |
9: 80,153,837 (GRCm39) |
F271S |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,247,427 (GRCm39) |
V1959A |
probably benign |
Het |
| Npsr1 |
A |
G |
9: 24,224,535 (GRCm39) |
D304G |
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,185,104 (GRCm39) |
V841A |
probably damaging |
Het |
| Or10c1 |
A |
G |
17: 37,522,568 (GRCm39) |
Y59H |
probably damaging |
Het |
| Or1j20 |
A |
T |
2: 36,760,537 (GRCm39) |
|
probably benign |
Het |
| Osbpl9 |
A |
G |
4: 109,029,529 (GRCm39) |
|
probably benign |
Het |
| Pdgfra |
A |
G |
5: 75,353,194 (GRCm39) |
N995D |
possibly damaging |
Het |
| Ptgs1 |
A |
T |
2: 36,127,717 (GRCm39) |
H92L |
probably damaging |
Het |
| Rasd1 |
T |
A |
11: 59,855,181 (GRCm39) |
I100F |
possibly damaging |
Het |
| Rbm26 |
T |
C |
14: 105,388,758 (GRCm39) |
T378A |
probably damaging |
Het |
| Slc12a3 |
T |
C |
8: 95,078,386 (GRCm39) |
S805P |
possibly damaging |
Het |
| Smarcal1 |
G |
A |
1: 72,665,625 (GRCm39) |
V708I |
probably benign |
Het |
| Strn |
A |
G |
17: 78,974,652 (GRCm39) |
S408P |
probably damaging |
Het |
| Suclg1 |
A |
G |
6: 73,247,975 (GRCm39) |
N232S |
probably benign |
Het |
| Ube3a |
T |
A |
7: 58,935,895 (GRCm39) |
L614Q |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,826,149 (GRCm39) |
L171P |
probably damaging |
Het |
| Zfp335 |
T |
C |
2: 164,737,904 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tmbim1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00983:Tmbim1
|
APN |
1 |
74,334,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03062:Tmbim1
|
APN |
1 |
74,330,858 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0987:Tmbim1
|
UTSW |
1 |
74,333,083 (GRCm39) |
splice site |
probably null |
|
|
R1067:Tmbim1
|
UTSW |
1 |
74,329,905 (GRCm39) |
unclassified |
probably benign |
|
|
R3821:Tmbim1
|
UTSW |
1 |
74,333,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3881:Tmbim1
|
UTSW |
1 |
74,329,157 (GRCm39) |
unclassified |
probably benign |
|
|
R4254:Tmbim1
|
UTSW |
1 |
74,333,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4787:Tmbim1
|
UTSW |
1 |
74,334,519 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4906:Tmbim1
|
UTSW |
1 |
74,328,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4949:Tmbim1
|
UTSW |
1 |
74,334,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5487:Tmbim1
|
UTSW |
1 |
74,332,164 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6257:Tmbim1
|
UTSW |
1 |
74,332,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7347:Tmbim1
|
UTSW |
1 |
74,330,438 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation