Incidental Mutation 'R5487:Tmbim1'
| ID |
501056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmbim1
|
| Ensembl Gene |
ENSMUSG00000006301 |
| Gene Name |
transmembrane BAX inhibitor motif containing 1 |
| Synonyms |
2310061B02Rik |
| MMRRC Submission |
043048-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
R5487 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
74327406-74343495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74332164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 121
(V121A)
|
| 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 benign
Transcript: ENSMUST00000016309
AA Change: V121A
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000016309
Gene: ENSMUSG00000006301
AA Change: V121A
| 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 benign
Transcript: ENSMUST00000113796
AA Change: V121A
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000109427
Gene: ENSMUSG00000006301
AA Change: V121A
| 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: ENSMUST00000152603
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154859
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186510
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187941
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138620
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.6%
- 20x: 89.0%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,844,340 (GRCm39) |
V959A |
probably damaging |
Het |
| Alg3 |
A |
T |
16: 20,426,530 (GRCm39) |
I115N |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,888,733 (GRCm39) |
D204G |
probably benign |
Het |
| Camta1 |
C |
A |
4: 151,229,211 (GRCm39) |
E540D |
possibly damaging |
Het |
| Cblc |
T |
C |
7: 19,518,733 (GRCm39) |
T413A |
probably benign |
Het |
| Ccdc122 |
T |
A |
14: 77,329,119 (GRCm39) |
H57Q |
probably benign |
Het |
| Ccdc85a |
A |
T |
11: 28,526,768 (GRCm39) |
L280* |
probably null |
Het |
| Cd46 |
T |
G |
1: 194,750,478 (GRCm39) |
|
probably null |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Dnaaf3 |
T |
C |
7: 4,526,864 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Ecpas |
T |
C |
4: 58,809,421 (GRCm39) |
D1651G |
probably benign |
Het |
| Eif2ak1 |
A |
G |
5: 143,833,981 (GRCm39) |
|
probably null |
Het |
| Erich4 |
A |
G |
7: 25,314,664 (GRCm39) |
M83T |
probably benign |
Het |
| Fbxo24 |
C |
T |
5: 137,617,094 (GRCm39) |
G331E |
possibly damaging |
Het |
| Fzd4 |
A |
G |
7: 89,056,615 (GRCm39) |
I221V |
probably benign |
Het |
| G6pc2 |
T |
C |
2: 69,056,921 (GRCm39) |
V189A |
probably damaging |
Het |
| Gm10663 |
A |
C |
8: 65,527,686 (GRCm39) |
E1A |
probably null |
Het |
| Gm4871 |
C |
A |
5: 144,967,199 (GRCm39) |
E178D |
probably damaging |
Het |
| Igdcc3 |
A |
G |
9: 65,088,866 (GRCm39) |
E415G |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,733,272 (GRCm39) |
|
probably benign |
Het |
| Krba1 |
T |
C |
6: 48,380,973 (GRCm39) |
V103A |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,296 (GRCm39) |
K409E |
probably benign |
Het |
| Lrriq4 |
C |
A |
3: 30,714,144 (GRCm39) |
N497K |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,919,842 (GRCm39) |
T451A |
probably damaging |
Het |
| Noxo1 |
C |
T |
17: 24,917,291 (GRCm39) |
|
probably benign |
Het |
| Oas1a |
A |
G |
5: 121,045,490 (GRCm39) |
I17T |
probably damaging |
Het |
| Otog |
A |
T |
7: 45,938,192 (GRCm39) |
Y1967F |
probably benign |
Het |
| Pcdha9 |
A |
T |
18: 37,132,703 (GRCm39) |
N591Y |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,494,218 (GRCm39) |
Y133H |
probably damaging |
Het |
| Pou5f2 |
T |
C |
13: 78,173,118 (GRCm39) |
L20P |
probably benign |
Het |
| Prkcb |
T |
A |
7: 122,199,948 (GRCm39) |
C586* |
probably null |
Het |
| Sema3b |
A |
T |
9: 107,478,161 (GRCm39) |
M408K |
probably damaging |
Het |
| Serpinf2 |
G |
A |
11: 75,324,031 (GRCm39) |
T332I |
probably damaging |
Het |
| Tph2 |
C |
T |
10: 114,955,779 (GRCm39) |
G338D |
probably damaging |
Het |
| Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,642,896 (GRCm39) |
V13247M |
probably damaging |
Het |
| Uty |
C |
T |
Y: 1,174,825 (GRCm39) |
G192R |
probably damaging |
Het |
| Vmn2r65 |
G |
T |
7: 84,595,529 (GRCm39) |
P385Q |
possibly damaging |
Het |
| Wdfy3 |
G |
A |
5: 101,984,140 (GRCm39) |
R3489W |
probably damaging |
Het |
| Zfp750 |
A |
G |
11: 121,404,558 (GRCm39) |
S106P |
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 |
|
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 |
|
R6257:Tmbim1
|
UTSW |
1 |
74,332,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7347:Tmbim1
|
UTSW |
1 |
74,330,438 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTTCTGCCCTGAACAACG -3'
(R):5'- GTACCACTAGCATGTTGGGG -3'
Sequencing Primer
(F):5'- TGAACAACGCCGGTCAG -3'
(R):5'- CCACTAGCATGTTGGGGGTGAG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation