Incidental Mutation 'IGL00983:Tmbim1'
| ID |
26775 |
| 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 # |
IGL00983
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
74327406-74343495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 74334422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 46
(G46V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115444
(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: G46V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000016309
Gene: ENSMUSG00000006301
AA Change: G46V
| 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: G46V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109427
Gene: ENSMUSG00000006301
AA Change: G46V
| 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 damaging
Transcript: ENSMUST00000130763
AA Change: G46V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121814
Gene: ENSMUSG00000006301
AA Change: G46V
| 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 |
probably damaging
Transcript: ENSMUST00000141560
AA Change: G46V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115444
Gene: ENSMUSG00000006301
AA Change: G46V
| 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: ENSMUST00000152603
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154859
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186510
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187941
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138620
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
T |
11: 58,771,438 (GRCm39) |
Q307* |
probably null |
Het |
| Acss3 |
A |
T |
10: 106,802,825 (GRCm39) |
C473* |
probably null |
Het |
| Adgrg1 |
T |
A |
8: 95,731,871 (GRCm39) |
S178T |
probably damaging |
Het |
| Anxa7 |
C |
A |
14: 20,508,749 (GRCm39) |
L386F |
possibly damaging |
Het |
| Calcrl |
T |
C |
2: 84,200,798 (GRCm39) |
E82G |
probably benign |
Het |
| Ccr9 |
C |
T |
9: 123,608,351 (GRCm39) |
P11L |
probably benign |
Het |
| Cep164 |
C |
A |
9: 45,686,554 (GRCm39) |
V887L |
possibly damaging |
Het |
| Dctn6 |
A |
G |
8: 34,559,747 (GRCm39) |
L136P |
probably damaging |
Het |
| Dnase1 |
T |
C |
16: 3,857,417 (GRCm39) |
V238A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,486,427 (GRCm39) |
Y3304C |
probably damaging |
Het |
| Fbxo31 |
A |
T |
8: 122,281,069 (GRCm39) |
V359D |
possibly damaging |
Het |
| Gpr182 |
A |
G |
10: 127,586,657 (GRCm39) |
I98T |
possibly damaging |
Het |
| Gspt1 |
C |
T |
16: 11,048,861 (GRCm39) |
|
probably benign |
Het |
| Itgam |
C |
A |
7: 127,667,839 (GRCm39) |
T70K |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,212,479 (GRCm39) |
|
probably benign |
Het |
| Kank3 |
T |
A |
17: 34,040,791 (GRCm39) |
M458K |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,714,153 (GRCm39) |
K379E |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,275,915 (GRCm39) |
V4206I |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,735,525 (GRCm39) |
L3397S |
probably damaging |
Het |
| Msh3 |
A |
T |
13: 92,436,785 (GRCm39) |
N508K |
probably damaging |
Het |
| Mttp |
C |
A |
3: 137,820,890 (GRCm39) |
|
probably benign |
Het |
| Nme5 |
G |
T |
18: 34,700,181 (GRCm39) |
Q155K |
probably benign |
Het |
| Or13p3 |
A |
T |
4: 118,567,119 (GRCm39) |
N172Y |
probably damaging |
Het |
| Or2r11 |
A |
T |
6: 42,437,029 (GRCm39) |
I308N |
probably benign |
Het |
| Or52b4i |
T |
A |
7: 102,191,593 (GRCm39) |
I150N |
possibly damaging |
Het |
| Pfkp |
A |
T |
13: 6,631,603 (GRCm39) |
W151R |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,794,585 (GRCm39) |
T1859S |
probably benign |
Het |
| Pmvk |
T |
C |
3: 89,374,890 (GRCm39) |
W96R |
probably damaging |
Het |
| Prdx6b |
T |
A |
2: 80,123,539 (GRCm39) |
M116K |
probably damaging |
Het |
| Ptpro |
A |
C |
6: 137,395,246 (GRCm39) |
L876F |
probably benign |
Het |
| Sdcbp |
G |
T |
4: 6,392,953 (GRCm39) |
E197* |
probably null |
Het |
| Serpinb1c |
A |
T |
13: 33,068,207 (GRCm39) |
S188R |
possibly damaging |
Het |
| Sorcs1 |
A |
T |
19: 50,164,566 (GRCm39) |
D988E |
probably damaging |
Het |
| Ubl4b |
C |
T |
3: 107,461,756 (GRCm39) |
G168E |
unknown |
Het |
| Vmn2r91 |
T |
C |
17: 18,325,820 (GRCm39) |
F146S |
probably benign |
Het |
| Zdhhc20 |
T |
C |
14: 58,076,613 (GRCm39) |
N335D |
possibly damaging |
Het |
| Zzz3 |
T |
G |
3: 152,161,447 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tmbim1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03062:Tmbim1
|
APN |
1 |
74,330,858 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL03306:Tmbim1
|
APN |
1 |
74,332,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-04-17 |
Incidental Mutation