Incidental Mutation 'R0241:Tmbim7'
ID |
66175 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmbim7
|
Ensembl Gene |
ENSMUSG00000014529 |
Gene Name |
transmembrane BAX inhibitor motif containing 7 |
Synonyms |
4930403J02Rik, 4930500J03Rik, Lfg5, Tmbim1b, 4930511M11Rik |
MMRRC Submission |
038479-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R0241 (G1)
|
Quality Score |
172 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
3707004-3729865 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 3716866 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 66
(Y66F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143241
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014673]
[ENSMUST00000156117]
[ENSMUST00000198739]
[ENSMUST00000199959]
|
AlphaFold |
Q9D592 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014673
AA Change: Y161F
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000014673 Gene: ENSMUSG00000014529 AA Change: Y161F
Domain | Start | End | E-Value | Type |
Pfam:Bax1-I
|
92 |
300 |
3.6e-39 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000115515
|
SMART Domains |
Protein: ENSMUSP00000111177 Gene: ENSMUSG00000014529
Domain | Start | End | E-Value | Type |
transmembrane domain
|
100 |
122 |
N/A |
INTRINSIC |
transmembrane domain
|
143 |
162 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156117
AA Change: Y110F
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000117435 Gene: ENSMUSG00000014529 AA Change: Y110F
Domain | Start | End | E-Value | Type |
Pfam:Bax1-I
|
55 |
205 |
2e-20 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198739
AA Change: Y83F
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000143399 Gene: ENSMUSG00000014529 AA Change: Y83F
Domain | Start | End | E-Value | Type |
Pfam:Bax1-I
|
28 |
222 |
3.2e-33 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199959
AA Change: Y66F
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000143241 Gene: ENSMUSG00000014529 AA Change: Y66F
Domain | Start | End | E-Value | Type |
Pfam:Bax1-I
|
1 |
96 |
2.6e-7 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.1%
- 10x: 89.8%
- 20x: 65.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck2 |
T |
A |
6: 39,560,752 (GRCm39) |
V380E |
probably benign |
Het |
Anapc1 |
A |
T |
2: 128,470,549 (GRCm39) |
M1527K |
possibly damaging |
Het |
Bicra |
A |
T |
7: 15,709,070 (GRCm39) |
M1188K |
probably damaging |
Het |
Brd7 |
G |
A |
8: 89,072,478 (GRCm39) |
R331W |
probably benign |
Het |
Cactin |
A |
G |
10: 81,158,486 (GRCm39) |
T151A |
probably benign |
Het |
Cadps |
G |
A |
14: 12,376,675 (GRCm38) |
T1274M |
probably damaging |
Het |
Catsper3 |
T |
C |
13: 55,952,667 (GRCm39) |
M175T |
probably damaging |
Het |
Chd5 |
A |
G |
4: 152,450,589 (GRCm39) |
D605G |
probably damaging |
Het |
Chst12 |
G |
A |
5: 140,510,054 (GRCm39) |
R227H |
possibly damaging |
Het |
Cobl |
A |
T |
11: 12,204,524 (GRCm39) |
V644E |
probably benign |
Het |
Ddx31 |
A |
G |
2: 28,738,303 (GRCm39) |
T155A |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,521,953 (GRCm39) |
Q4069R |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,984,653 (GRCm39) |
I3117T |
probably damaging |
Het |
Doc2b |
A |
G |
11: 75,663,387 (GRCm39) |
V355A |
probably damaging |
Het |
Dock10 |
A |
T |
1: 80,556,340 (GRCm39) |
S578T |
probably benign |
Het |
Fcer2a |
A |
G |
8: 3,738,796 (GRCm39) |
|
probably null |
Het |
Fmnl1 |
G |
A |
11: 103,072,996 (GRCm39) |
|
probably null |
Het |
Git2 |
T |
C |
5: 114,871,290 (GRCm39) |
E208G |
probably damaging |
Het |
Hs6st3 |
T |
C |
14: 119,376,232 (GRCm39) |
F136L |
probably benign |
Het |
Hydin |
G |
A |
8: 111,124,655 (GRCm39) |
V555I |
probably benign |
Het |
Kmt2b |
A |
G |
7: 30,276,494 (GRCm39) |
L1726S |
probably damaging |
Het |
Loxl3 |
A |
G |
6: 83,027,114 (GRCm39) |
D615G |
probably damaging |
Het |
Nfasc |
C |
A |
1: 132,564,731 (GRCm39) |
A70S |
probably benign |
Het |
Or4d1 |
T |
A |
11: 87,804,860 (GRCm39) |
N291Y |
probably damaging |
Het |
Or4p21 |
A |
T |
2: 88,276,889 (GRCm39) |
M131K |
possibly damaging |
Het |
Or52n4 |
A |
G |
7: 104,294,450 (GRCm39) |
M41T |
probably benign |
Het |
Or5g29 |
A |
G |
2: 85,421,154 (GRCm39) |
K90R |
probably benign |
Het |
Pde7b |
A |
G |
10: 20,311,962 (GRCm39) |
C239R |
probably damaging |
Het |
Pdzd2 |
A |
T |
15: 12,368,027 (GRCm39) |
L2654Q |
probably damaging |
Het |
Pgap1 |
T |
C |
1: 54,575,110 (GRCm39) |
|
probably null |
Het |
Proz |
T |
A |
8: 13,115,356 (GRCm39) |
M124K |
probably benign |
Het |
Raet1d |
A |
G |
10: 22,247,328 (GRCm39) |
T135A |
probably benign |
Het |
Rapgef1 |
A |
G |
2: 29,592,682 (GRCm39) |
N558S |
possibly damaging |
Het |
Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
Simc1 |
G |
T |
13: 54,698,338 (GRCm39) |
L1319F |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,438,429 (GRCm39) |
E1499G |
possibly damaging |
Het |
Tas2r118 |
T |
C |
6: 23,969,338 (GRCm39) |
Y241C |
probably damaging |
Het |
Tbck |
A |
G |
3: 132,430,636 (GRCm39) |
E344G |
probably benign |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Vil1 |
T |
C |
1: 74,465,853 (GRCm39) |
L548P |
probably damaging |
Het |
Wdr3 |
A |
G |
3: 100,052,973 (GRCm39) |
V593A |
probably damaging |
Het |
Zan |
T |
C |
5: 137,420,084 (GRCm39) |
T2858A |
unknown |
Het |
Zbtb37 |
A |
T |
1: 160,847,939 (GRCm39) |
V356E |
probably benign |
Het |
Zfp36 |
C |
T |
7: 28,077,759 (GRCm39) |
V50I |
probably damaging |
Het |
Zfp563 |
A |
T |
17: 33,323,659 (GRCm39) |
S85C |
possibly damaging |
Het |
|
Other mutations in Tmbim7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00719:Tmbim7
|
APN |
5 |
3,729,087 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2013-08-19 |