Incidental Mutation 'R1195:Tmbim7'
ID |
197524 |
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 |
039267-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R1195 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
3707004-3729865 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 3711943 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 63
(T63A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000014673
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014673]
[ENSMUST00000156117]
[ENSMUST00000196304]
[ENSMUST00000198739]
[ENSMUST00000199959]
|
AlphaFold |
Q9D592 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014673
AA Change: T63A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000014673 Gene: ENSMUSG00000014529 AA Change: T63A
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: T26A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000117435 Gene: ENSMUSG00000014529 AA Change: T26A
Domain | Start | End | E-Value | Type |
Pfam:Bax1-I
|
55 |
205 |
2e-20 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196304
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198739
|
SMART Domains |
Protein: ENSMUSP00000143399 Gene: ENSMUSG00000014529
Domain | Start | End | E-Value | Type |
Pfam:Bax1-I
|
28 |
222 |
3.2e-33 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199959
|
SMART Domains |
Protein: ENSMUSP00000143241 Gene: ENSMUSG00000014529
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: 97.4%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.8%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtr1a |
C |
A |
13: 30,565,901 (GRCm39) |
P322Q |
probably damaging |
Het |
Amh |
AGCGCCTTGG |
AG |
10: 80,641,419 (GRCm39) |
|
probably null |
Het |
Brd1 |
T |
C |
15: 88,585,014 (GRCm39) |
E940G |
probably benign |
Het |
Cd163 |
T |
A |
6: 124,302,209 (GRCm39) |
|
probably benign |
Het |
Cd28 |
C |
T |
1: 60,802,303 (GRCm39) |
T74I |
possibly damaging |
Het |
Cntnap2 |
T |
A |
6: 46,460,902 (GRCm39) |
M646K |
probably benign |
Het |
Cyb5d1 |
C |
T |
11: 69,285,797 (GRCm39) |
|
probably null |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Dab2ip |
T |
C |
2: 35,608,757 (GRCm39) |
|
probably benign |
Het |
Dnajc25 |
C |
T |
4: 59,003,415 (GRCm39) |
A62V |
probably damaging |
Het |
Dst |
A |
G |
1: 34,250,235 (GRCm39) |
D4063G |
probably damaging |
Het |
Elmod1 |
T |
C |
9: 53,843,052 (GRCm39) |
Y42C |
probably damaging |
Het |
Hdac5 |
T |
C |
11: 102,096,332 (GRCm39) |
I310V |
probably damaging |
Het |
Hpx |
A |
G |
7: 105,248,856 (GRCm39) |
|
probably benign |
Het |
Ighv10-1 |
A |
T |
12: 114,443,015 (GRCm39) |
|
probably benign |
Het |
Igsf3 |
A |
G |
3: 101,365,419 (GRCm39) |
D1130G |
probably benign |
Het |
Katnip |
A |
G |
7: 125,465,654 (GRCm39) |
R1343G |
probably damaging |
Het |
Kdm4d |
A |
G |
9: 14,374,395 (GRCm39) |
S488P |
probably benign |
Het |
Lingo2 |
A |
G |
4: 35,708,538 (GRCm39) |
Y481H |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
Map3k20 |
C |
T |
2: 72,268,562 (GRCm39) |
P523L |
probably damaging |
Het |
Msx1 |
A |
G |
5: 37,978,625 (GRCm39) |
Y297H |
probably damaging |
Het |
Myo9a |
A |
G |
9: 59,802,483 (GRCm39) |
D1990G |
probably damaging |
Het |
Niban2 |
T |
C |
2: 32,809,815 (GRCm39) |
V304A |
probably benign |
Het |
Perp |
C |
A |
10: 18,731,483 (GRCm39) |
Y147* |
probably null |
Het |
Prr16 |
A |
T |
18: 51,435,755 (GRCm39) |
D78V |
probably damaging |
Het |
Rfx7 |
C |
T |
9: 72,525,228 (GRCm39) |
T806M |
probably damaging |
Het |
Robo2 |
T |
C |
16: 73,713,016 (GRCm39) |
|
probably null |
Het |
Sema5b |
A |
T |
16: 35,472,030 (GRCm39) |
E496V |
probably null |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Spdl1 |
T |
C |
11: 34,710,644 (GRCm39) |
Y368C |
probably damaging |
Het |
Sptbn2 |
G |
C |
19: 4,795,921 (GRCm39) |
R1700P |
possibly damaging |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Tln2 |
T |
G |
9: 67,165,848 (GRCm39) |
K1000Q |
probably damaging |
Het |
Tmed11 |
T |
C |
5: 108,926,885 (GRCm39) |
D129G |
possibly damaging |
Het |
Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
Ttll6 |
T |
C |
11: 96,026,555 (GRCm39) |
I113T |
probably damaging |
Het |
Uso1 |
T |
A |
5: 92,318,606 (GRCm39) |
F210L |
probably damaging |
Het |
Uspl1 |
T |
A |
5: 149,131,131 (GRCm39) |
V224E |
probably benign |
Het |
Zfp639 |
G |
A |
3: 32,573,345 (GRCm39) |
V86I |
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 |
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 |
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 |
PCR Primer
(F):5'- TTGGAGGTCAGTGAGCCAGTCAAC -3'
(R):5'- CACAGCATTGCCCTTAGCTACTGTC -3'
Sequencing Primer
(F):5'- GTGAGCCAGTCAACTTTAGC -3'
(R):5'- ATGGCAGCCTTTGACACATC -3'
|
Posted On |
2014-05-23 |