Incidental Mutation 'IGL03056:Trabd2b'
| ID |
409243 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trabd2b
|
| Ensembl Gene |
ENSMUSG00000070867 |
| Gene Name |
TraB domain containing 2B |
| Synonyms |
Gm12824, Hkat |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
IGL03056
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
114263921-114472295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114266535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 183
(V183A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094894]
|
| AlphaFold |
B1ATG9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094894
AA Change: V183A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000092494
Gene: ENSMUSG00000070867
AA Change: V183A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:TraB
|
41 |
350 |
6.2e-67 |
PFAM |
|
low complexity region
|
359 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
469 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,647,862 (GRCm39) |
H1118R |
probably damaging |
Het |
| Aff1 |
G |
A |
5: 103,958,947 (GRCm39) |
V339I |
probably damaging |
Het |
| Ank1 |
G |
T |
8: 23,631,195 (GRCm39) |
V107F |
probably damaging |
Het |
| Aox3 |
T |
C |
1: 58,198,180 (GRCm39) |
|
probably null |
Het |
| Cd160 |
T |
C |
3: 96,713,127 (GRCm39) |
T46A |
probably benign |
Het |
| Cimip2a |
T |
A |
2: 25,111,367 (GRCm39) |
M232K |
possibly damaging |
Het |
| Col20a1 |
A |
T |
2: 180,636,682 (GRCm39) |
Y221F |
probably damaging |
Het |
| Ddx18 |
C |
T |
1: 121,492,264 (GRCm39) |
A148T |
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,956,570 (GRCm39) |
M307T |
probably damaging |
Het |
| Fam216b |
G |
A |
14: 78,320,223 (GRCm39) |
H86Y |
probably benign |
Het |
| Fh1 |
A |
T |
1: 175,433,728 (GRCm39) |
C374S |
probably damaging |
Het |
| Fkbp14 |
A |
G |
6: 54,556,529 (GRCm39) |
V207A |
probably benign |
Het |
| Gucy1a1 |
T |
C |
3: 82,020,594 (GRCm39) |
K101R |
probably benign |
Het |
| Kcnk2 |
G |
T |
1: 189,027,908 (GRCm39) |
Q116K |
possibly damaging |
Het |
| Kdm5b |
C |
A |
1: 134,515,717 (GRCm39) |
Q114K |
probably damaging |
Het |
| Kif12 |
C |
T |
4: 63,085,193 (GRCm39) |
R516Q |
probably null |
Het |
| Lca5l |
C |
T |
16: 95,962,551 (GRCm39) |
C463Y |
probably benign |
Het |
| Lgsn |
T |
A |
1: 31,242,705 (GRCm39) |
Y262* |
probably null |
Het |
| Lig4 |
A |
G |
8: 10,022,580 (GRCm39) |
I400T |
possibly damaging |
Het |
| Mink1 |
T |
A |
11: 70,503,409 (GRCm39) |
|
probably null |
Het |
| Mprip |
T |
A |
11: 59,662,518 (GRCm39) |
I2243N |
probably damaging |
Het |
| Myo1f |
A |
T |
17: 33,804,574 (GRCm39) |
Y426F |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,298,795 (GRCm39) |
S414C |
possibly damaging |
Het |
| Nrg1 |
T |
C |
8: 32,311,451 (GRCm39) |
I363V |
possibly damaging |
Het |
| Or4f54 |
A |
T |
2: 111,123,517 (GRCm39) |
R301S |
possibly damaging |
Het |
| Or52r1b |
A |
T |
7: 102,690,958 (GRCm39) |
I86L |
possibly damaging |
Het |
| Serpinb9d |
T |
C |
13: 33,386,736 (GRCm39) |
V268A |
probably damaging |
Het |
| Slc15a1 |
A |
G |
14: 121,728,695 (GRCm39) |
F17L |
possibly damaging |
Het |
| Slc9a3 |
T |
A |
13: 74,298,938 (GRCm39) |
V119E |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,447,472 (GRCm39) |
M2346K |
probably benign |
Het |
| Tcf4 |
G |
T |
18: 69,784,283 (GRCm39) |
|
probably benign |
Het |
| Ust |
T |
C |
10: 8,083,326 (GRCm39) |
H350R |
probably benign |
Het |
| Zfp952 |
T |
A |
17: 33,221,740 (GRCm39) |
V35E |
probably damaging |
Het |
|
| Other mutations in Trabd2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01329:Trabd2b
|
APN |
4 |
114,266,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01404:Trabd2b
|
APN |
4 |
114,457,153 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01866:Trabd2b
|
APN |
4 |
114,266,117 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03167:Trabd2b
|
APN |
4 |
114,467,195 (GRCm39) |
missense |
probably benign |
|
|
E0374:Trabd2b
|
UTSW |
4 |
114,457,094 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0645:Trabd2b
|
UTSW |
4 |
114,443,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0744:Trabd2b
|
UTSW |
4 |
114,437,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0833:Trabd2b
|
UTSW |
4 |
114,437,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1580:Trabd2b
|
UTSW |
4 |
114,437,531 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1599:Trabd2b
|
UTSW |
4 |
114,266,178 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2132:Trabd2b
|
UTSW |
4 |
114,467,205 (GRCm39) |
missense |
probably benign |
|
|
R2133:Trabd2b
|
UTSW |
4 |
114,467,205 (GRCm39) |
missense |
probably benign |
|
|
R2204:Trabd2b
|
UTSW |
4 |
114,460,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2518:Trabd2b
|
UTSW |
4 |
114,457,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4940:Trabd2b
|
UTSW |
4 |
114,266,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4994:Trabd2b
|
UTSW |
4 |
114,264,052 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5104:Trabd2b
|
UTSW |
4 |
114,264,114 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5219:Trabd2b
|
UTSW |
4 |
114,460,007 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6456:Trabd2b
|
UTSW |
4 |
114,443,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7148:Trabd2b
|
UTSW |
4 |
114,266,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7192:Trabd2b
|
UTSW |
4 |
114,467,217 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7195:Trabd2b
|
UTSW |
4 |
114,266,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7375:Trabd2b
|
UTSW |
4 |
114,467,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8490:Trabd2b
|
UTSW |
4 |
114,460,113 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8717:Trabd2b
|
UTSW |
4 |
114,460,186 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9203:Trabd2b
|
UTSW |
4 |
114,460,122 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation