Incidental Mutation 'R3896:Tmbim7'
ID |
310535 |
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 |
040807-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R3896 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
3707004-3729865 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 3711916 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 54
(H54Y)
|
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: H54Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000014673 Gene: ENSMUSG00000014529 AA Change: H54Y
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: H17Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000117435 Gene: ENSMUSG00000014529 AA Change: H17Y
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: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (48/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503B20Rik |
A |
T |
3: 146,356,868 (GRCm39) |
N13K |
possibly damaging |
Het |
Alas1 |
G |
T |
9: 106,119,000 (GRCm39) |
|
probably null |
Het |
Arhgap20 |
A |
T |
9: 51,728,137 (GRCm39) |
I117F |
probably damaging |
Het |
Asz1 |
A |
G |
6: 18,075,766 (GRCm39) |
I269T |
probably benign |
Het |
Atp8a2 |
C |
A |
14: 60,263,589 (GRCm39) |
|
probably null |
Het |
Atp8b2 |
A |
T |
3: 89,864,626 (GRCm39) |
I163K |
probably damaging |
Het |
Casd1 |
T |
A |
6: 4,640,980 (GRCm39) |
F700L |
probably damaging |
Het |
Ccdc80 |
A |
G |
16: 44,916,984 (GRCm39) |
D580G |
probably benign |
Het |
Cog7 |
C |
T |
7: 121,540,392 (GRCm39) |
|
probably benign |
Het |
Cyp2c66 |
T |
C |
19: 39,130,722 (GRCm39) |
V112A |
possibly damaging |
Het |
D130040H23Rik |
T |
A |
8: 69,755,610 (GRCm39) |
C356S |
probably damaging |
Het |
Emb |
A |
G |
13: 117,409,598 (GRCm39) |
*331W |
probably null |
Het |
Enpp3 |
A |
C |
10: 24,653,847 (GRCm39) |
S703R |
possibly damaging |
Het |
Fam13b |
T |
C |
18: 34,596,008 (GRCm39) |
|
probably benign |
Het |
Foxp1 |
T |
A |
6: 99,052,897 (GRCm39) |
Q97L |
probably benign |
Het |
Gdf10 |
A |
T |
14: 33,656,438 (GRCm39) |
N467Y |
probably damaging |
Het |
Gm29394 |
C |
T |
15: 57,912,024 (GRCm39) |
|
probably benign |
Het |
Gsn |
T |
C |
2: 35,192,650 (GRCm39) |
S522P |
possibly damaging |
Het |
Hydin |
T |
A |
8: 111,235,711 (GRCm39) |
F1899I |
possibly damaging |
Het |
Ints1 |
C |
A |
5: 139,743,399 (GRCm39) |
E1658* |
probably null |
Het |
Jakmip2 |
A |
T |
18: 43,682,751 (GRCm39) |
F691Y |
probably benign |
Het |
Klhl28 |
A |
G |
12: 65,004,333 (GRCm39) |
F60S |
probably damaging |
Het |
Loxhd1 |
C |
T |
18: 77,469,719 (GRCm39) |
S992L |
possibly damaging |
Het |
Lrp1b |
A |
T |
2: 40,812,440 (GRCm39) |
|
probably null |
Het |
Macf1 |
A |
T |
4: 123,364,987 (GRCm39) |
I3258N |
possibly damaging |
Het |
Map4k2 |
G |
T |
19: 6,391,958 (GRCm39) |
E91* |
probably null |
Het |
Matcap1 |
T |
A |
8: 106,009,920 (GRCm39) |
H343L |
probably benign |
Het |
Myo1b |
A |
T |
1: 51,812,420 (GRCm39) |
V739E |
probably damaging |
Het |
Naa35 |
C |
T |
13: 59,755,109 (GRCm39) |
T185I |
probably damaging |
Het |
Or10v9 |
T |
C |
19: 11,832,951 (GRCm39) |
D122G |
probably damaging |
Het |
Or4c15b |
A |
G |
2: 89,113,441 (GRCm39) |
F33S |
possibly damaging |
Het |
Reg4 |
A |
T |
3: 98,132,082 (GRCm39) |
|
probably benign |
Het |
Rnaseh2b |
A |
C |
14: 62,597,906 (GRCm39) |
|
probably benign |
Het |
Rnf123 |
G |
A |
9: 107,946,302 (GRCm39) |
|
probably benign |
Het |
Scn8a |
A |
T |
15: 100,933,379 (GRCm39) |
M1528L |
probably benign |
Het |
Sdr16c5 |
T |
A |
4: 4,006,609 (GRCm39) |
T228S |
probably damaging |
Het |
Sgo2a |
T |
C |
1: 58,052,805 (GRCm39) |
C202R |
probably damaging |
Het |
Slc25a46 |
A |
G |
18: 31,716,725 (GRCm39) |
L259P |
probably damaging |
Het |
Slc4a4 |
A |
G |
5: 89,345,625 (GRCm39) |
|
probably benign |
Het |
Sox14 |
G |
T |
9: 99,757,636 (GRCm39) |
H34Q |
probably damaging |
Het |
Syna |
T |
A |
5: 134,587,165 (GRCm39) |
K595* |
probably null |
Het |
Taf4 |
A |
G |
2: 179,573,807 (GRCm39) |
V687A |
probably benign |
Het |
Vmn1r212 |
T |
C |
13: 23,068,067 (GRCm39) |
M89V |
probably benign |
Het |
Vmn1r86 |
T |
C |
7: 12,836,093 (GRCm39) |
Y261C |
probably benign |
Het |
Xkr4 |
A |
G |
1: 3,286,414 (GRCm39) |
I592T |
probably damaging |
Het |
Ywhah |
A |
G |
5: 33,184,349 (GRCm39) |
Y184C |
probably damaging |
Het |
Zkscan16 |
C |
T |
4: 58,946,125 (GRCm39) |
|
probably benign |
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 |
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 |
|
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'- CAGGACATGAATGACAGGTTTTC -3'
(R):5'- GCAGCCTTTGACACATCTCATG -3'
Sequencing Primer
(F):5'- GAATGACAGGTTTTCTATTCCAGG -3'
(R):5'- TTCTGTCAGTACACACCATGG -3'
|
Posted On |
2015-04-17 |